Podcasts about homozygous

Explore the two different types of familial hypercholesterolemia: Homozygous and Heterozygous. Guest Kathy Byrne walks listeners through different signs and symptoms along with diagnostic tools to explore a diagnosis for your patients.National Heart Blood and Lung Screening Guidelines https://pubmed.ncbi.nlm.nih.gov/26343208/#:~:text=Identification%20of%20hetFH%20is%20key,;%20Prevalence;%20Screening;%20Treatment.Relevant PCNA Resources https://pcna.net/clinical-resources/patient-handouts/familial-hypercholesterolemia-patient-education-fact-sheet/See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

This content has been developed for healthcare professionals only. Patients who seek health information should consult with their physician or relevant patient advocacy groups.For the full presentation, downloadable Practice Aids, slides, and complete CME/MOC/NCPD/CPE/AAPA information, and to apply for credit, please visit us at PeerView.com/MRJ865. CME/MOC/NCPD/CPE/AAPA credit will be available until October 17, 2025.Changing the Future for Families With HoFH: Long-Term Benefits of Early Diagnosis and Treatment for Homozygous Familial Hypercholesterolemia In support of improving patient care, this activity has been planned and implemented by PVI, PeerView Institute for Medical Education, and Family Heart Foundation. PVI, PeerView Institute for Medical Education, is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.SupportThis activity is supported by an independent medical education grant from Regeneron Pharmaceuticals, Inc.Disclosure information is available at the beginning of the video presentation.

Wanna chat and get more personalized support? I'm offering podcast listeners a free 20-minute Thriving Mama Check-In where we'll evaluate your physical, mental, and emotional health and provide useful resources to help you on your journey. In this episode, Stephanie interviews Rhiannon Neuharth, a genetics expert who shares valuable insights on the impact of genes on health. Rhiannon discusses the MTHFR gene variant, its role in methylation processes, and how it affects various health issues like anxiety, ADHD, and fertility. She emphasizes the importance of comprehensive genetic testing and personalized recommendations for optimal health outcomes. Tune in to learn how understanding your genes can help you make informed decisions about your health and lifestyle.Rhiannon Neuharth is a Certified Functional Nutrition Counselor and a Board Certified Health Coach. She began her journey in functional nutrition after struggling to maintain her chronically ill child's health after antibiotics. Exhausted and overwhelmed, she delved into research, eventually finding her passion in supporting others on the path to optimal health and wellness. With a focus on individuals with MTHFR, Rhiannon provides simple solutions to optimized wellness in just 90 days, without spending endless hours on Google.Timestamps:2:07 How the MTHFR gene variant relates to various health issues.10:41 How methylation affects several hundred processes in our bodies.17:25 Why taking the recommended dosage might not be best for you.24:40 The impact of genes and the environment on your health.30:36 The role of mould and heavy metals.35:52 How a fatty liver is linked to MTHFR and detox issues.43:47 The importance of understanding lifestyle choices for MTHFR.Text MTHFR to 1 (321) 335-2414 to learn more or visit Revitalizing Wellness to take the MTHFR quiz.Connect with Rhiannon on Instagram or TikTok.Resources Mentioned:Environmental Working Group (EWG) | WebsiteThink Dirty App | WebsiteBranch Basics | WebsiteForce of Nature | WebsiteDUTCH Test | WebsiteFind More From Dr. Stephanie Davis:Thrive Mama Tribe | WebsiteThrive Mama Tribe | InstagramThrive Mama Tribe | Skool

In this episode of the Grazing Grass Podcast, we delve into the rich tapestry of livestock coat color genetics. From the sleek black of Angus cattle to the lush red of Red Polls, we uncover the chromosomal dance that dictates the stunning variety of hues in our farm animals. Whether you're a livestock enthusiast or a seasoned breeder, this episode promises to deepen your appreciation for the science behind animal pigmentation. We discuss the genetic interplay of pigments, the extension and agouti loci, and the role of DNA testing in breeding for desired traits. Join us as we explore the fascinating world of color genetics and how it shapes the beauty and identity of livestock breeds. Share this journey with us to better understand the living canvas of genetics that contributes to the agricultural landscape.Visit our Sponsors:Noble Research InstituteKencove Farm Fence

Genetics can be intricate, no doubt. With millions of mutations present in every human, one might wonder why not everyone is impacted by pathogenic diseases. The Patient Empowerment Program aims to assist you in grasping the fundamental concepts of various mutations and how they function, paving the way for you to enhance your understanding of genetics. Delve into the diverse array of disease-causing mutations, their characteristics, and explore which mutations could potentially be addressed through ASO treatment in this concluding episode of Advanced Genetics.On This Episode We Discuss:The nature of a SNPPre-mature-m-RNA effectsIndels can disrupt the reading frameDefining Alleles, Homozygous, Heterozygous, and Compound HeterozygousThe difference between whole exome and genome sequencingHow we, at n-Lorem, decide which patients are amendable to ASO treatmentsHow we design ASOs to take advantage of different post-RNA binding mechanismsMechanisms: Non-allele selective RNAse H1, Allele-selective RNAse H1, and Splicing ASOs

Did you know that greatly reduced low-density lipoprotein (LDL) receptor activity in homozygous familial hypercholesterolemia (HoFH) leads to severely elevated LDL-cholesterol (LDL-C) levels from birth causing very early onset of cardiovascular disease (CVD) events? Credit available for this activity expires: 3/28/25 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/1000494?ecd=bdc_podcast_libsyn_mscpedu

RanchHQ is the new guy in the online sale platform world, and they are setting out to do things differently. I sat down with the creators to dig into what they are up to, and why it's awesome. Logan and I visit about chasing homozygous black, when it matters and when you should walk away.   Sponsored by: RanchHQ ranchhq.app Walters Cattle Farm 270-832-1180 HI/ Cattle Co hislashcattle.com Learn more about your ad choices. Visit megaphone.fm/adchoices

RanchHQ is the new guy in the online sale platform world, and they are setting out to do things differently. I sat down with the creators to dig into what they are up to, and why it's awesome. Logan and I visit about chasing homozygous black, when it matters and when you should walk away.   Sponsored by: RanchHQ ranchhq.app Walters Cattle Farm 270-832-1180 HI/ Cattle Co hislashcattle.com Learn more about your ad choices. Visit megaphone.fm/adchoices

Commentary by Dr Raul Santos

Commentary by Dr. Candice Silversides

Please visit answersincme.com/TJX860 to participate, download slides and supporting materials, complete the post test, and obtain credit. In this activity, an expert in cardiology discusses low-density lipoprotein (LDL) receptor–independent therapies for homozygous familial hypercholesterolemia (HoFH) via two patient case studies. Upon completion of this activity, participants should be better able to: Identify patients with HoFH through differential diagnosis; Review the clinical profiles of novel strategies to reduce LDL cholesterol in patients with HoFH that work independently of LDL receptors; and Outline patient-centered strategies to maximize quality of life for patients with HoFH on lipid-lowering therapies.

Please visit answersincme.com/XTX860 to participate, download slides and supporting materials, complete the post test, and obtain credit. In this activity, two experts in cardiology discuss the diagnosis and management of homozygous familial hypercholesterolemia (HoFH). Upon completion of this activity, participants should be better able to: Describe the clinical impact of early and intensive treatment for patients with HoFH; Identify patients with HoFH through differential diagnosis; and Review the clinical profiles of novel strategies to reduce low-density lipoprotein (LDL).

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.24.550093v1?rss=1 Authors: Fenton, T., Haouchine, O., Hallam, E., Smith, E., Jackson, K., Rahbarian, D., Canales, C. P., Adhikari, A., Nord, A. S., Ben-Shalom, R., Silverman, J. L. Abstract: SYNGAP1 is a critical gene for neuronal development, synaptic structure, and function. Although rare, the disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability. Without functional SynGAP1 protein, patients present with intellectual disability, motor impairments, and epilepsy. Previous work using mouse models with a variety of germline and conditional mutations has helped delineate SynGAP1's critical roles in neuronal structure and function, as well as key biochemical signaling pathways essential to synapse integrity. Homozygous loss of SYNGAP1 is embryonically lethal. Heterozygous mutations of SynGAP1 result in a broad range of phenotypes including increased locomotor activity, impaired working spatial memory, impaired cued fear memory, and increased stereotypic behavior. Our in vivo functional data, using the original germline mutation mouse line from the Huganir laboratory, corroborated robust hyperactivity and learning and memory deficits. Here, we describe impairments in the translational biomarker domain of sleep, characterized using neurophysiological data collected with wireless telemetric electroencephalography (EEG). We discovered Syngap1+/- mice exhibited elevated spike trains in both number and duration, in addition to elevated power, most notably in the delta power band. Primary neurons from Syngap1+/- mice displayed increased network firing activity, greater spikes per burst, and shorter inter-burst intervals between peaks using high density micro-electrode arrays (HD-MEA). This work is translational, innovative, and highly significant as it outlines functional impairments in Syngap1 mutant mice. Simultaneously, the work utilized untethered, wireless neurophysiology that can discover potential biomarkers of Syngap1R-ID, for clinical trials, as it has done with other NDDs. Our work is substantial forward progress toward translational work for SynGAP1R-ID as it bridges in-vitro electrophysiological neuronal activity and function with in vivo neurophysiological brain activity and function. These data elucidate multiple quantitative, translational biomarkers in vivo and in vitro for the development of treatments for SYNGAP1-related intellectual disability. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Commentary by Dr. Candice Silversides

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.05.05.539444v1?rss=1 Authors: Dominov, J. A., Madigan, L. A., Whitt, J. P., Rademacher, K. L., Webster, K. M., Zhang, H., Banno, H. A., Tang, S., Zhang, Y., Wightman, N., Shychuck, E. M., Page, J., Weiss, A., Kelly, K., Kucukural, A. A., Brodsky, M. H., Jaworski, A., Fallon, J. R., Lipscombe, D., Brown, R. H. Abstract: Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder affecting brain and spinal cord motor neurons. Mutations in the copper/zinc superoxide dismutase gene (SOD1) are associated with ~20% of inherited and 1-2% of sporadic ALS cases. Much has been learned from mice expressing transgenic copies of mutant SOD1, which typically involve high-level transgene expression, thereby differing from ALS patients expressing one mutant gene copy. To generate a model that more closely represents patient gene expression, we created a knock-in point mutation (G85R, a human ALS-causing mutation) in the endogenous mouse Sod1 gene, leading to mutant SOD1G85R protein expression. Heterozygous Sod1G85R mutant mice resemble wild type, whereas homozygous mutants have reduced body weight and lifespan, a mild neurodegenerative phenotype, and express very low mutant SOD1 protein levels with no detectable SOD1 activity. Homozygous mutants exhibit partial neuromuscular junction denervation at 3-4 months of age. Spinal cord motor neuron transcriptome analyses of homozygous Sod1G85R mice revealed up-regulation of cholesterol synthesis pathway genes compared to wild type. Transcriptome and phenotypic features of these mice are similar to Sod1 knock-out mice, suggesting the Sod1G85R phenotype is largely driven by loss of SOD1 function. By contrast, cholesterol synthesis genes are down-regulated in severely affected human TgSOD1G93A transgenic mice at 4 months. Our analyses implicate dysregulation of cholesterol or related lipid pathway genes in ALS pathogenesis. The Sod1G85R knock-in mouse is a useful ALS model to examine the importance of SOD1 activity in control of cholesterol homeostasis and motor neuron survival. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.26.534268v1?rss=1 Authors: Li, S., Wang, Y., Stoel, M. v. d., Zhou, X., Madhusudan, S., Kanerva, K., Nguyen, V. D., Eskici, N., Olkkonen, V. M., Zhou, Y., Raivio, T., Ikonen, E. Abstract: Auxin-inducible degron (AID) technology is powerful for chemogenetic control of proteolysis. However, generation of human cell lines to deplete endogenous proteins with AID remains challenging. Typically, homozygous degron-tagging efficiency is low and overexpression of an auxin receptor requires additional engineering steps. Here, we establish a one-step genome editing procedure with high-efficiency homozygous tagging and auxin receptor expression. We demonstrate its application in 5 human cell lines, including embryonic stem (ES) cells. The method allowed isolation of AID single-cell clones in 10 days for 11 target proteins with greater than 80% average homozygous degron-tagging efficiency in A431 cells, and greater than 50% efficiency for 5 targets in H9 ES cells. The tagged endogenous proteins were inducibly degraded in all cell lines, including ES cells and ES-cell derived neurons, with robust expected functional readouts. This method facilitates the application of AID for studying endogenous protein functions in human cells, especially in stem cells. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.22.533562v1?rss=1 Authors: Lepine, S., Nauleau-Javaudin, A., Deneault, E., Chen, C. X.- Q., Abdian, N., Franco-Flores, A. K., Haghi, G., Castellanos-Montiel, M. J., Maussion, G., Chaineau, M., Durcan, T. M. Abstract: Cytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS). Furthermore, while mutations in the TARDBP gene (encoding TDP-43) have been associated with ALS, the pathogenic consequences of these mutations remain poorly understood. Using CRISPR/Cas9, we engineered two homozygous knock-in iPSC lines carrying mutations in TARDBP encoding TDP-43A382T and TDP-43G348C, two common yet understudied ALS TDP-43 variants. MNs differentiated from knock-in iPSCs had normal viability and displayed no significant changes in TDP-43 subcellular localization, phosphorylation, solubility, or aggregation compared with isogenic control MNs. However, our results highlight synaptic impairments in both TDP-43A382T and TDP-43G348C MN cultures, as reflected in synapse abnormalities and alterations in spontaneous neuronal activity. Collectively, our findings argue that MN dysfunction precedes the occurrence of TDP-43 pathology and neurodegeneration in ALS, and further implicates synaptic and excitability defects in the pathobiology of this disease. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.16.532982v1?rss=1 Authors: Yuan, T., Wang, Y., Jin, Y., Xu, S., Zhang, H., Chen, Q., Li, N., Ma, X., Song, H., Peng, C., Yang, H., Geng, Z., Dong, J., Duan, G., Sun, Q., Yang, Y., Yang, F., Huang, Z. Abstract: Quinidine has been used as an anticonvulsant to treat patients with KCNT1-related epilepsy by targeting gain-of-function KCNT1 pathogenic mutant variants. However, the detailed mechanism underlying quinidine's blockade against KCNT1 (Slack) remains elusive. Here, we report a functional and physical coupling of the voltage-gated sodium channel NaV1.6 and Slack. NaV1.6 binds to and highly sensitizes Slack to quinidine blockade. Homozygous knockout of NaV1.6 reduces the sensitivity of native sodium-activated potassium currents to quinidine blockade. NaV1.6-mediated sensitization requires the involvement of NaV1.6's N- and C-termini binding to Slack's C-terminus, and is enhanced by transient sodium influx through NaV1.6. Moreover, disrupting the Slack-NaV1.6 interaction by viral expression of Slack's C-terminus can protect against SlackG269S-induced seizures in mice. These insights about a Slack-NaV1.6 complex challenge the traditional view of "Slack as an isolated target" for anti-epileptic drug discovery efforts, and can guide the development of innovative therapeutic strategies for KCNT1-related epilepsy. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

A new research paper was published in Oncotarget's Volume 14 on March 11, 2023, entitled, “Genomic landscape of metastatic breast cancer (MBC) patients with methylthioadenosine phosphorylase (MTAP) loss.” Homozygous deletion of methylthioadenosine phosphorylase (MTAP) upregulates de novo synthesis of purine (DNSP) and increases the proliferation of neoplastic cells. This increases the sensitivity of breast cancer cells to DNSP inhibitors such as methotrexate, L-alanosine and pemetrexed. In their recent study, Maroun Bou Zerdan, Prashanth Ashok Kumar, Elio Haroun, Nimisha Srivastava, Jeffrey Ross, and Abirami Sivapiragasam from SUNY Upstate Medical University and Foundation Medicine, Inc. analyzed 7,301 metastatic breast cancer (MBC) patients that underwent hybrid-capture based comprehensive genomic profiling (CGP). “We provide one of the first large analyses of the spectrum of GA [genomic alterations] occurring in MTAP deleted MBC with the hope that this would enable identifying potential therapeutic agents in the future.” Tumor mutational burden (TMB) was determined on up to 1.1 Mb of sequenced DNA and microsatellite instability (MSI) was determined on 114 loci. Tumor cell PD-L1 expression was determined by IHC (Dako 22C3). 208 (2.84%) of MBC featured MTAP loss. MTAP loss patients were younger (p = 0.002) and were more frequently ER− (30% vs. 50%; p < 0.0001), triple negative (TNBC) (47% vs. 27%; p < 0.0001) and less frequently HER2+ (2% vs. 8%; p = 0.0001) than MTAP intact MBC. Lobular histology and CDH1 mutations were more frequent in MTAP intact (14%) than MTAP loss MBC (p < 0.0001). CDKN2A (100%) and CDKN2B (97%) loss (9p21 co-deletion) were significantly associated with MTAP loss (p < 0.0001). Likely associated with the increased TNBC cases, BRCA1 mutation was also more frequent in MTAP loss MBC (10% vs. 4%; p < 0.0001). As for immune checkpoint inhibitors biomarkers, higher TMB >20 mut/Mb levels in the MTAP intact MBC (p < 0.0001) and higher PD-L1 low expression (1–49% TPS) in the MTAP loss MTAP (p = 0.002) were observed. “MTAP loss in MBC has distinct clinical features with genomic alterations (GA) affecting both targeted and immunotherapies. Further efforts are necessary to identify alternative means of targeting PRMT5 and MTA2 in MTAP-ve cancers to benefit from the high-MTA environment of MTAP-deficient cancers.” Read the full research paper: DOI: https://doi.org/10.18632/oncotarget.28376 Correspondence to: Abirami Sivapiragasam - sivapira@upstate.edu Keywords: breast cancer, metastatic, MTAP loss About Oncotarget Oncotarget is a primarily oncology-focused, peer-reviewed, open access journal. Papers are published continuously within yearly volumes in their final and complete form, and then quickly released to Pubmed. On September 15, 2022, Oncotarget was accepted again for indexing by MEDLINE. Oncotarget is now indexed by Medline/PubMed and PMC/PubMed. To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: SoundCloud - https://soundcloud.com/oncotarget Facebook - https://www.facebook.com/Oncotarget/ Twitter - https://twitter.com/oncotarget Instagram - https://www.instagram.com/oncotargetjrnl/ YouTube - https://www.youtube.com/@OncotargetJournal LinkedIn - https://www.linkedin.com/company/oncotarget Pinterest - https://www.pinterest.com/oncotarget/ Reddit - https://www.reddit.com/user/Oncotarget/ Media Contact MEDIA@IMPACTJOURNALS.COM 18009220957

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.03.01.530650v1?rss=1 Authors: Occelli, L. M., Tran, N. M., Chen, S., Petersen-Jones, S. M. Abstract: PURPOSE. Human mutations in the CRX transcription factor are associated with dominant retinopathies often with more severe macular changes. The CRX-mutant cat (Rdy -A182d2) is the only animal model with the equivalent of the critical retinal region for high acuity vision, the macula. Heterozygous cats (CRXRdy/+) have a severe phenotype modeling Leber congenital amaurosis. This study reports the distinct ocular phenotype of homozygous cats (CRXRdy/Rdy). METHODS: Gene expression changes were assessed at both mRNA and protein levels. Changes in globe morphology and retinal structure were analyzed. RESULTS: CRXRdy/Rdy cats had high levels of mutant CRX mRNA and protein. The expression of photoreceptor target genes was severely impaired while there were variable effects on the expression of other transcription factors. The photoreceptor cells remained immature and failed to elaborate outer segments consistent with the lack of retinal function. The retinal layers displayed a progressive remodeling with cell loss but maintained overall retinal thickness due to gliosis. Rapid photoreceptor loss largely occurred in the macula-equivalent retinal region. The homozygous cats developed markedly increased ocular globe length. CONCLUSIONS: The phenotype of CRXRdy/Rdy cats was more severe compared to CRXRdy/+ cats by several metrics. TRANSLATIONAL RELEVANCE: The CRX-mutant cat is the only model for CRX-retinopathies with a macula-equivalent region. A prominent feature of the CRXRdy/Rdy cat phenotype not detectable in homozygous mouse models, was the rapid degeneration of the macula-equivalent retinal region highlighting the value of this large animal model and its future importance in the testing of translational therapies aiming to restore vision. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Drs. Raphael Vidal-Perez and Seth Martin discuss the submission, revision and acceptance process

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.01.514674v1?rss=1 Authors: Krausova, M., Kreplova, M., Banik, P., Kubovciak, J., Modrak, M., Zubova, D., Lindovsky, J., Kubik-Zahoradna, A., Palkova, M., Kolar, M., Prochazka, J., Sedlacek, R., Stanek, D. Abstract: A subset of patients suffering from a familial retinitis pigmentosa (RP) carry mutations in several spliceosomal components including PRPF8 protein. Here, we established two novel alleles of murine Prpf8 that genocopy or mimic aberrant PRPF8 found in RP patients - the substitution p.Tyr2334Asn and an extended protein variant p.Glu2331ValfsX15. Homozygous mice expressing either of the aberrant Prpf8 variants developed within first 2 months progressive atrophy of the cerebellum due to extensive granule neuron loss. Comparison of transcriptome from pre-degenerative and degenerative tissues revealed a subset of circRNAs that were deregulated in all tissues and both Prpf8-RP mouse strains. To identify potential risk factors that sensitize cerebellum for Prpf8 mutations we monitored expression of several splicing proteins during first eight weeks. We observed downregulation of all selected splicing proteins in wild-type cerebellum, which coincided with neurodegeneration onset. The decrease in splicing protein expression was further pronounced in mouse strains expressing mutated Prpf8. Collectively, we propose a model where physiological reduction of spliceosomal components during postnatal tissue maturation sensitizes cells to expression of aberrant Prpf8 and the subsequent deregulation of circRNAs triggers neuron death. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Dr. Evan Noch interviews Drs. Shannon Fortin Ensign and Sani Kizilbash about their recent paper in Neuro-Oncology entitled: "Translational significance of CDKN2A/B homozygous deletion in IDH mutant astrocytoma", published online in Neuro-Oncology in August 2022 Full Report

If you're a woman in your 40s, 50s, or beyond, you know that hormone health is key. But did you know that gut health is essential for hormone balance?   In this episode of The Hormone Prescription Podcast, Lindsey Parsons, a Certified Health Coach specializing in helping clients locally and nationally heal gut health issues and reverse autoimmune disease naturally as well as lose weight without cutting calories and hosts the podcast "The Perfect Stool: Understanding and Healing the Gut Microbiome", joins us to discuss the gut-hormone connection.     Lindsey shares with us:     How the gut and hormones are interconnected     How to heal your gut for better hormone health     The link between gut health and autoimmune disease     Type of tests to diagnose gut issues     How to create a healthy gut environment     Why some people suffer from SIBO as a chronic long term illness     The latest treatments for GI problems like  fecal microbiota transplant, breathwork, and colostrum   And more!   If you're interested in learning more about the gut-hormone connection and how to heal your gut for better hormone health, tune in now!   [00:00:00] "I'd rather pay for healthy food now than healthcare later." Would you? So the big question is how do women over 40, like us keep weight off, have great energy balance. Our hormones in our moods feel sexy and confident and master midlife. If you're like most of us, you are not getting the answers you need and remain confused and pretty hopeless to ever feel like yourself again.   [00:00:23] As an OB GYN, I had. Discover for myself, the truth about what creates a rock, solid metabolism, lasting weight loss, and supercharged energy. After 40 in order to lose a hundred pounds and fix my fatigue. Now I'm on a mission. This podcast is designed to share the natural tools you need for impactful results.   [00:00:41] And to give you clarity on the answers to your midlife metabolism challenge. Join me for tangible natural strategies to crush the hormone imbalances you are facing and help you get unstuck from the sidelines of life. My name is Dr. Kyrin Dunston. Welcome to The Hormone Prescription Podcast. Hey everybody.   [00:01:00] And welcome back to another episode of The Hormone Prescription Podcast with Dr. Kyrin. Thank you so much for joining me. My guest today is Lindsey Parsons. She has an amazing podcast called The Perfect Stool, Understanding And Healing, The Gut Microbiome. When I discovered her recently, I saw her podcast and I saw all the amazing guests she had and just really the depth and breadth of her knowledge in gut health and healing.   [00:01:26] And I know how central this is to hormone health and overall health. I had to have her on the podcast. And I reached out and she kind of said, well, I don't really do that kind of thing. I said, no, please, you gotta come talk to my ladies. So I bring her here to you today and I hope you enjoy her as much as I do.   [00:01:45] In addition to hosting the podcast, the perfect stool. She's a certified health coach and she works in Tucson. She specializes in helping clients nationally heal gut health issues and reverse autoimmune disease, as well as lose weight without cutting calories who doesn't want that. She also has this wonderful quote about a calorie not being a calorie.   [00:02:06] And she tells a little bit of a story about that, but you don't want to miss. She talks about fecal transplants, which if you don't know about that, you're gonna wanna hear about that. She talks about colostrum use for healing gut issues. We talk about SIBO testing. What tests to do.    [00:02:28] We talk about everything.   [00:02:29] So you'll see this episode is a little all over the place because I was super excited to talk to her. I knew I only had her for max an hour, so I was trying to jump around and hit all the things that I really wanted to chat with her about. You like it, and I hope you take it as an invitation to listen to her podcast and go more in depth into a lot of these issues that are of interest to you.   [00:02:54] There are way more than we could even cover. And I think we talked for 35, 40 minutes, so she has even way more available. So without further ado, please welcome Lindsey Parsons.   [00:03:06] Thank you.   [00:03:08] So glad to have you here. I don't remember where I found your podcast, but I was super excited when I did the perfect stool, understanding and healing, the gut microbiome, and then all the amazing guests and topics that you've had and how in depth you go.   [00:03:27] I was like, I have to talk to you.    [00:03:31] and I have to have you on the podcast. So thank you so much. Yeah, well, I appreciate you for inviting me. So I think that a lot of people in the general public who are looking for answers to their health, tend to only look for physicians. I'm glad to see that that's changing because I think there are some amazing health coaches, for instance, like you out there who really go so much deeper into a lot of these issues and really are better experts than a lot of physicians on things like you are for gut health.   [00:04:06] So talk to us about how you became so passion. About gut health and really what led you down that.    [00:04:15] So it was really my own health struggles that led me into this path. So years ago, unbeknownst to me, my, an episode of food poisoning led to something called Post infectious IBS, which I only actually found out within the last year or so is an autoimmune diagnosis that I have because I didn't have a typical presentation of IBS, which you might think of as, you know, may having diarrhea six times a day or severe constipation.   [00:04:47] I didn't have either of those, but. I did have gut symptoms that, you know, including bloating and reflux and things like that, that went on for years. And when I did see traditional doctors didn't really get a lot of help other than suggesting I take proton pump inhibitors, which I did for something like 10 or 15 years.   [00:05:08] And now they super strict about not taking more than two weeks at a time. So, you know, the long term damage from that, you can only imagine. . And when I did eventually find my way to a functional medicine provider and was put on a course of herbal treatment for something called SIBO or small intestine, bacterial overgrowth, which is what happens when you have this post infectious IBS.   [00:05:29] What happens is you have an autoimmune situation where the Migrating motor complex or the process by which food is cleared through your intestines after eating is impacted negatively and is attacked by your own body. Therefore, you don't have that clearing of the intestines and clearing of the bacteria and the intestines.   [00:05:50] So you get these overgrowths and stagnation, and then you end up with bloating every time you eat, because it's coming, the food's coming in, and immediately the bacteria are going crazy and producing gases. So I had that going on for years and you know, you meet a lot of people that have a lot of bloating after they eat and they just sort of rack it up to, I ate too much or, you know, a whole number of things.   [00:06:12] So. I did finally see somebody and they cleared the placebo for me. Eventually it took herbals and then followed by Rifaximin, which is a prescription, very expensive prescription drug that, that takes care of it. And then over time started changing my diet, getting rid of gluten, getting rid of dairy.   [00:06:29] Really, you know, reducing sugar significantly. And all of those things contributed to me getting much better. And then I also had several autoimmune diagnoses that, you know, cuz when you have these kind of gut issues, you can have followed on autoimmune issues. And so I had Hashimoto thyroiditis, which really, you know, when I found out about that, that really kicked me into gear about trying to turn things around because the doctor had said to me, oh, you can just wait until your thyroid's gone.   [00:06:55] Then we'll put you on. You know, thyroid hormones. And I thought, oh, I'm just gonna sit around and wait until my entire thyroid's destroyed by this. No, that's not what I'm gonna do.    [00:07:05] right. But that's such a typical mainstream medical approach. Um, nothing to do. You have raging thyroid peroxidase antibodies, you have Hashimotos and they do nothing.   [00:07:16] And then they literally say, we're not gonna do anything, you know, until you're you burn out your thyroid, which is just kind of insane. So then what happened at that point? I think I, all of this is a bit perhaps out of order, but I did eventually get off gluten, get off dairy and for a while off of Soy.   [00:07:34] Yeah, mm-hmm and, and, and I just kept retesting my hormones as I, my, I mean, my antibodies, rather my thyroid antibodies as I retested those foods. So it took a couple years. I, you know, I stayed off gluten for a year before I think I even retested, but then I, you know, you try it again and you see what happens and, and each of those foods.   [00:07:52] So anyway, I ultimately decided gluten and dairy are the two things that I'm most sensitive to. And then of course, everyone should stay off added sugar. So I try and avoid that in any case. And. Ultimately, I never had to take any thyroid hormones. My antibodies are now at zero. They're all completely normal and I never, now they can still see the damage from Hashimotos when they all use an ultrasound on my thyroid, but I still have normal TSH levels.   [00:08:17] I mean, not even just normal, optimal TSH levels. That's awesome.    [00:08:21] I want everyone listening to hear that clearly. She just told you that she healed herself from Hashimoto has no antibodies and has optimized thyroid function. This is what's possible with a root cause approach. And I think that when I talk about this on the podcast or on social media, people don't believe me because it's such an anomaly in mainstream medicine.   [00:08:44] And of course, regular doctors will look at you. Like you're crazy and say, that's not true, but it happens every day. We see it's an everyday miracle. So I love that you came down this path and you became so passionate about gut health. And I think to me, it makes sense why you focus on having the autoimmune disease or diseases focused on gut health, but I don't know  that's gonna make sense to everyone.   [00:09:11] Can you help them make that link betweeut health and autoimmune disease.   [00:09:15] Absolutely. So. There are three things that are necessary for an autoimmune condition to happen. And one is a genetic predisposition for that particular autoimmune disease. So some people's bodies will attack one, some one organ, some people's bodies will attack a different organ.   [00:09:32] Then you need to have a leaky gut or intestinal permeability, which means that the tight junctions in your intestines are not holding together or there are holes through actual cells in the intestines that are letting. Both toxins, undigested, food, bacteria, body parts, all sorts of things that your immune system is going to then start attacking.   [00:09:54] And then you activate the immune system like this. And that's what inflammation is in essence. And when you have undigested gluten proteins in particular or gliadin, it's called is the protein in gluten. It resembles the cells in your thyroid gland and your body will attack this protein and then also create antibodies that attack your thyroid.   [00:10:19] So in essence, it's a, what they call molecular mimicry or some sort of confusion in your body where it starts attacking itself. So that's always at the root of all autoimmune diseases. Yes.    [00:10:30] So if you have an autoimmune immune disease, I always tell people by definition you have a gut problem and people will say to me, well, My gut works just fine.   [00:10:39] I eat, I poop. I don't have loose stool. I'm not constipated. I don't get indigestion gas, bloating. And they say, I don't have a gut problem. I say, yes, you do. If you have a autoimmune disease, you've got a gut problem. So where is the disconnect? Why do people seemingly have no gut symptoms? But they have a gut problem, help us understand that.   [00:10:58] Well, sometimes I think what happens is there's a balance of bacteria in the gut, such that your stool looks okay, right? Like maybe, you have some constipating bacteria and you have some loosening bacteria and together they've canceled each other out. But that doesn't mean that you don't have a leaky gut.   [00:11:16] Typically there is some sort of gut infection causing leaky gut, but it doesn't necessarily. I mean, you could have toxins that are also in play or mold or things like that, but in general, something is causing your gut to be leaky. So, you know, it's interesting because sometimes I will see people's gut tests for potential stool donors for fecal transplants.   [00:11:39] And. And I'll say, oh no, you can't take this person's stool. They may have good stool, and they may seem healthy and have good digestion, but it's just full of problems. Like, I mean, they have, you know, major pathogens that you'd never wanna take on. So just because you don't have any obvious gut problems doesn't mean something's not gonna show up on a test, right?   [00:11:58] Yeah. I mean, you may not overtly have symptoms, but that doesn't mean that on a microscope or on the micro level, you're not having problems you are. If you have an autoimmune. Yeah. So you mentioned testing, let's start with that. Cause a lot of people, you know, they're used to going to their regular doctor and what happens at their regular doctor.   [00:12:19] Oh doc, I have indigestion after I eat. No tests are done and they're given a proton pump inhibitor or Hey doc, I can't poop. No tests are done. And then they're given some pro motility agent for their gut. Hey doc, I alternate diarrhea, constipation. oh, diagnosis of exclusion. You have irritable bowel syndrome.   [00:12:39] Mm-hmm and they're put on anti-spam. So they're not used to doing gut stool tests. And I remember when I first started doing this work and I started with my gynecologic patients and I told them they needed to do a stool test and they would look at me like I was crazy. What are you talking about? Well, you need to poop in this pie plate and send it off to scoop it into these little tubes and send it to the lab.   [00:13:01] And they're like, what? I'm not doing that cuz no doctor ever asked them to do that. mm-hmm so talk about, you know, the testing, maybe what are some of your favorite tests to do and what it shows you and how people can get comfortable with this idea of pooping in the pie plate?    [00:13:21] Well, I have to say the people who come to me have no problem giving up their stool for a test because they are coming typically with gut issues.   [00:13:28] However, yeah, my favorite is the GI map. I like that one because it includes H pylori and I have found it now over the course  of. Three or four years now of helping people with gut issues that people who are severely constipated often have an overgrowth of H pylori or just a high level of it that's given their symptomatic is also problematic.   [00:13:51] So that's a bacteria that causes ulcers or stomach cancer, but not always only when it has certain virulence factors. Nevertheless, people will typically present with stomach pain with reflux, but sometimes just constipation. Sometimes they don't have those upper GI symptoms with H pylori. So I like that it includes also the GI map.   [00:14:14] You know, a number of different levels of bacteria in the gut. So you can see if certain classes or certain Gena or certain species are elevated or too low, both of the commences, the normal good ones, and then the potentially pathogenic and then the actual toxic pathogenic ones. It also includes all the parasites.   [00:14:33] So you can catch up somebody as a para and then it includes markers of gut health and just digestion. So, like, do you have enough pancreatic enzymes? Do you have elevated levels of beta lyase, which ties into hormones? Do you have sufficient secretory, IGA, or is that super elevated? Indicating your gut immune system is on high alert and trying to fight something.   [00:14:55] So I just like that it's a good overall test of various markers. And then of course it has marker for Calprotectin, which is a marker of inflammatory bowel disease and the inflammation in the colon.    [00:15:07] Yes. That's actually my favorite too. So great minds think alike. I think it really gives you the most comprehensive view.   [00:15:14] And sometimes people will come to me and say, well, I had a volume test. Can't you use that? and I go, yeah, that's not useful at all. Can you share with your people your thoughts on the bio, that one or any other one of these direct to consumer tests are not as far as I'm concerned, clinically useful. They might be good for the consumer, but they typically, you know, they will make all sorts of commentary about what diet changes are necessary, for example, based on your microbiome and no harm in trying those things.   [00:15:49] But when you're dealing with parasites or digestive dysfunction, Dysbiosis, et cetera. I think you need a clinical level test for that kind of stuff. There's just not a lot of actionable for a practitioner. There's not a lot of actionable information on a volume test. I agree.    [00:16:11] I, I think the same is true for a lot of the DNA direct to consumer test.   [00:16:15] Like, is it 23? And me, it's just not all the actionable information that you would want. Like the Alzheimer's gene mm-hmm , that's something I think everyone should have. And, uh, they don't include. Oh, really? I feel like they've included in well, so, oh, maybe they have, well, you can take, you can pull the raw data.   [00:16:34] I'll sometimes ask my clients for their raw data and I put it in genetic genie and I run that. And then I see, cause I, because I know that I'm, I'm APO four, three Aprile four. Homozygous. So I have my high Alzheimer's risk, which I, the only reason I know that is from the 23 and me. So I know it came through may, either on genetic gen genie or directly on 23 and me.   [00:16:55] Great.    [00:16:56] And so how has that empowered you? Do you feel like it's empowered you or disempowered you to have that information?   [00:17:03] I don't know that I would be doing anything different because I'm already somebody who seeks to optimize my health and have been my entire life. So I don't know, but I think as I get older, I'm definitely going to be more attentive to any kind of lapses in memory.   [00:17:21] And then at some point I'm probably going to get hooked up with that. Program the Dale BNS program related to Alzheimer's just to make sure that I'm doing absolutely everything preventative and everything testing wise, to make sure I don't lose my memory any sooner than necessary. Yes, absolutely. The Recode protocol.   [00:17:38] And I think there are 28 parameters, 28 things you need to be doing that are totally worthwhile. My mom. It has advanced Alzheimer's. So it's something I'm very keenly aware of and, you know, it's too late for her. Like I shared in a recent TEDx talk that I did talk about her only risk factor was that she had been menopausal for three decades without hormone therapy.   [00:18:01] And that is, of course, one of the main tens of the Recode protocol is using. Hormones therapy, natural hormone therapy. Speaking of which the podcast is called the hormone prescription. So I tie everything into hormones because to me, everything in the body is related to hormones. So how does let's go back to autoimmune disease with gut dysfunction, leaky gut.   [00:18:25] Intestine intestinal hyperpermeability as a key factor.    [00:18:30] How does this interact with the hormonal meal, you and the body?   [00:18:32] In my particular case, I'm not sure if there's a huge interaction, but in general, I mentioned on the GI map, there's a hormone, uh, I mean an enzyme called beta Gluar days and that. Is an enzyme that breaks the tight bond between glucuronic acid and toxins, including circulating estrogens in the intestines.   [00:18:55] And so when that gets elevated in certain bacteria in the gut, produce it so certain bacteria from the, the, uh, class ties also certain clostridia E coli. And there's a lot of healthy E coli, not just the ones that are known to be pathogenic and stalac rheumatic. So there's a number of different bacteria that produce it.   [00:19:18] And when those tend to get overgrown, then you can have access. Beta glucoronide and then this is breaking apart, this bond and recirculating estrogens in the body, which can lead to estrogen-related breast cancer, potentially colon cancer. So there's some correlations between those and. When that happens, what you can do to reverse it is to move to a lower fat, lower meat diet, to more of a plant-based diet because higher fiber will help undo that process.   [00:19:50] Yes, it's so    [00:19:51] true. The beta glucuronidase. So anyone who is suffering, which is very common sometimes in thirties and forties year old women, before they go through menopause with excess estrogen. And symptoms of that. It could be fibroid, endometriosis, heavy, painful periods, which is often associated with weight gain bloating.   [00:20:13] These are estrogen dominant conditions. You gotta look at your beta Glu UASE in your stool because it could be elevated. So that could be one of the key causes of one of your hormonal imbalances And then the other thing I always like to say for anyone with an autoimmune disease is you've got a foot on the accelerator of inflammation and that's this leaky gut, but you have no break on your car.   [00:20:39] And that would be cortisol, which is your body's natural steroid. So what do they do when you have a flare up of any type of inflammation or autoimmune disease? Steroids is the treatment and that's your body. Cortisol inside naturally. So you have a brake failure and you have a foot on the accelerator.   [00:20:57] So it's kind of a two-prong problem. So you've got to address both, but by healing your gut, you can work on your cortisol as well.   [00:21:03] So let me interrupt you for a second, because when you said all those things, as I think of this stuff now more in terms of my client than myself, but I did actually have estrogen dominance.   [00:21:15] No, no doubt. I had always low progesterone and I went through years of infertility. So I, I assumed that all of my gut stuff was at the root of that as well as the autoimmune stuff and probably, uh, you know, some thyroid issues.    [00:21:28] Yeah. You know, I think it's, isn't it Louis pastor who said death begins in the colon and I think  it's absolutely true.   [00:21:37] The gut is the center of your body physically. And it's the center of your health. Literally. It has branches to everything. And, you know, I always like to say. I ask people, what's your biggest interface with the external environment? And they say, oh my skin. And I say, no, think again. And it takes them a minute and most people don't get it.   [00:21:58] It's your gastrointestinal tract, cuz you're taking the external environment and you're putting it inside of you into this tube. That seems like it's in you, but it really just passes through and interacts. So it's like an inner skin and it's as big as two doubles tennis courts, the surface area. And so.   [00:22:17] Really that's your biggest ability for the environment to program you? You mentioned genetics, right? That's part of probably five, 10, maybe 20% of our health, but then what turns on those genes? In terms of our epigenetic code and, and food is the biggest programmer of that, that we're putting into our body and think of all the food you eat in the day.   [00:22:41] So I, I wanted to, to touch on something else. You said, well, we were talking about testing and I think you mentioned earlier about that you had SIBO small intestine bacteria overgrowth.    [00:22:53] Yes. What are your favorite tests to diagnose that? And it's such a Gnarly topic for the people who have it. How do you get rid of it?   [00:23:02] You mentioned the migrating motor complex, which a lot of people really don't have that working. So there's no motility going. So can you talk about SIBO?   [00:23:14] I don't tend to use breath tests. I'll start by saying mm-hmm . I tend to use the GI map and organic acids in general. When I see somebody with some type of presentation of bloating and what look like SIBO symptoms.   [00:23:31] Mm-hmm that being said, if. After looking at those and after taking herbal supplements to get rid of bacterial overgrowth, there still seems to be no resolution. I may recommend either the trio smart, especially if I suspect there could be hydrogen sulfide overgrowth, or I might recommend the IBS smart test to see if they have post.   [00:23:57] Infectious IBS to see if they have that autoimmune component and are always gonna be dealing with SIBO. So some people just get this overgrowth, they clean it up once, and they're all good. And then other people like me are going to constantly have to be fighting it. So I have to take something each night.   [00:24:12] A prokinetic. In order to keep things moving in my migrating motor complex and just be conscientious of not eating tons. No, not snacking all day long, letting my intestines empty out completely and periodically have to kind of Rell the bacteria. I have to take antimicrobials, you know, every year, roughly.   [00:24:31] In some quantity when I start to see things getting bloated again. Okay.    [00:24:35] So now the average person listening and probably a lot of the clients that you see and that I see they've been to their regular doctor and they've got this bloating problem. That seems pretty consistent. They're probably not gonna get any of these tests.   [00:24:50] Are they, there are some doctors at this point who will order SIBO, breath tests. That's not unheard of now at this point for GI doctors and some will have heard of, and may be using some, the trio smarter, the IBS smart, because they are, they were developed by an MD who is the expert at, Mark Pimentel.   [00:25:10] Who's the expert in SIBO and who does try and reach that traditional audience or conventional, I should say audience, but typically you'll have to ask for and seek out these more. Specialized tests with somebody who's either practicing functional medicine, a natural path, a health coach, somebody who is mm-hmm, more of a non-conventional expert in gut health.   [00:25:34] Yes.    [00:25:35] And so it sounds like you're describing, which has kind of been my experience too, with people who have SIBO. Some people do recover, and they don't have a problem any longer, but there is a subset of people who this is a very chronic problem. Can you talk a little bit about why someone might suffer with that as a chronic long term condition?   [00:25:57] Sure. So I did talk about. The primary, I guess I think about it as the primary, but I'm not actually sure. In terms of percentages, but I did mention the primary, which is the post infectious IBS, there, incidents of food poisoning, where you have an autoimmune problem, you can also have of course thyroid issues that can contribute to it.   [00:26:17] Hypothyroid, you can have traumatic brain injuries that are causing issues with the vagus nerve and with. Movement in the intestines from that of course infections, diabetes can be a root cause. Mold toxicity. You can have problems with your production of stomach acid, so you can have low stomach acid or hypochlorhydria.   [00:26:41] And that can cause. Overgrowth of bacteria or poor bio flow, uh, lack of pancreatic enzymes or brush border enzymes. There can be deficiencies in your secretory, IGA. If you've been under periods of extreme stress that can reduce secretory IGA, which is your gut immune defense, which is what is killing off these bacteria that are coming in.   [00:27:00] Mm-hmm , you can have medications that you're taking that could be causing problems and slowing your motility, obviously proton pump inhibitors, but also antidepressants. Anti SMOs opiates, narcotics. Then you can also have issues that are physical in nature. So you've had a past abdominal surgery and you could have adhesions for example, that are keeping your intestines from flowing properly endometriosis, which I also had, can be a root cause.   [00:27:28] Alors Danlos syndrome can also cause problems with motility. And then you can have dysfunction of your I valve.    [00:27:35] Yeah. There's such a long list of problems that you can have that can contribute to this. And I think, you know, people listening, I kind of want, because you have such breadth and depth of knowledge.   [00:27:48] For them to really get a good idea of what you, what you know, and what you offer. You have so much information on your podcast. We're definitely gonna give everyone, um, we'll put the link in the show notes to the podcast. And I was just looking at all the episodes you have. I was like, oh my gosh, I wanna talk to her about this.   [00:28:11] I wanna talk to her about that. I want her to share this. I want her to share. And so I think even if you're listening and you're like, oh my gosh, you guys are going way too fast and covering way too much ground. That is information for you to spur your interest, to go watch. Or listen to Lindsey's podcast, cuz she has so much valuable information.   [00:28:32] And then you can select the topics that interest you and you can listen to those. She talks about the FMT, the fecal microbiota transplant as a treatment. And I'm wondering if you could share a little bit about what that is and what it's used for? Cause I don't think a lot of people know that. An up and coming treatment for our GI problems.   [00:28:54] Okay. So FMT in the US is legal only in non-experimental contexts for recurrent C difficile infections, which is very potent bacteria that causes, you know, explosive diarrhea that can kill you and kills. I don't know something like 40,000 people a year. So if you have recurrent C diff, that's not treatable by antibiotics a couple times, then you could, in theory, if you can access it, get a fecal transplant done in a hospital.   [00:29:23] And it's basically taking the stool from a healthy donor and either putting it in capsule format or in ENMA format. And then you get a retention en ENMA of it. And for C diff it's usually just one treatment for other. So in other countries it's legal for other conditions like. IBS or inflammatory bowel disease with different levels of success, given the condition, even for autoimmune conditions, for any number of things, even, even conditions you might think aren't connected to.   [00:29:58] The gut is like ALS or multiple sclerosis. Well, that's autoimmune. So you may think that, but in any case, there are definitely some testimonies on a number of different conditions. So in, in particular, I think I know of clinics that do this in Australia, in the UK, in The Bahamas in Canada. Now I think there's one in Mexico focusing on, on children with autism in particular.   [00:30:23] Oh, and I think there used to be one in Argentina. I'm not sure if that's still there. So around the world, you can do treatments. And typically those will last for two five-day courses, essentially over the course of two weeks during the work week. And, you know, there are just some amazing testimonials of, of, oh, and of course mental health.   [00:30:41] I hadn't even discussed that cuz I have a lot of stories of people with serious mental health issues from bipolar to depression, to anxiety and pan and pan pans and pan, does that have been resolved after fecal transplants? And then of course it's also being used and in a particular, very purified form, that's an experimental form being used for autism.   [00:31:03] So it has the potential to be quite life changing, which is not to say it is for everyone. Uh, there's a Facebook group full of people who have tried it and it didn't help them. So I think the donor quality and just sort of the good match between the donor and the recipient are also important. So it's not always a foolproof thing.   [00:31:22] I. but, but there are for those, for whom it makes a difference, boy, it sure can make a big difference. Yeah. And I think probably some people listening are thinking, wow, that's really radical. Cuz I know when I talk about coffee, ENMA some people just really freak out. they're like what? I'm not doing.   [00:31:39] Putting what in my butt. No. And so when we talk about a fecal transplant via enema, I know some people get freaked out, but you know, if anybody listening has heard any of the recent data or information or knowledge that we have about the microbiome and how key it is for our overall health, you really, for some people could call it almost like getting a brain transplant, cuz your gut is your second brain.   [00:32:04] And. See the podcast episode that you had with the woman who I think she healed herself from bipolar using fecal transplant. Can you talk a little bit about her story?   [00:32:15] So she was in Australia and had bipolar for many years. I think she had probably, I think if I recall correctly, I think there had been suicide attempts.   [00:32:27] She had been in the hospitalized maybe five times with, you know, major depressive episodes. So. It was a serious and ongoing problem for her, from which she would emerge, you know, for periods of time when she could function normally, but mostly couldn't hold down a job. She did get married though, to a wonderful man who also had a wonderful stool.   [00:32:49] And at some point heard about yeah.    [00:32:52] New criteria for finding a partner.    [00:32:55] Absolutely.    [00:32:56] So did I get a stool sample before we seriously? Well, she didn't test it or anything. She just tried it and sure enough. It really worked for her. I think she, I think she did it more intensely at first and then more periodically afterwards, but it absolutely pulled her out of her depressions.   [00:33:15] And, you know, in large part resolved her bipolar. I wouldn't say she said it wa I think she emphasized it. Wasn't like a hundred percent cure, but from what I could hear, it really turned her life around. So she just DIYed it. She DIYed it. Yeah. So there's a lot of people doing that in the US, by the way, they're just finding donors.   [00:33:35] They may or may not be testing 'em I always recommend, of course, if you're gonna consider a donor that you do the full protocol of testing, which involves both blood tests for infectious diseases and sexually transmitted transmitted infections, as well as a stool test to, to make sure they don't have any of the major stool pathogens that you could potentially get.   [00:33:52] Because especially if you're doing it. Reasons related to gut issues. And you're, if you're in fragile health, like, especially if you have any kind of inflammatory bowel disease, you can really mess yourself up. If you bring in a pathogen and your gut is not prepared to fight it.    [00:34:07] Yes. Yeah. I would say, you know, it'd be similar to having sex.   [00:34:11] It's pretty intimate. You might wanna even more so.   [00:34:15] Right. Even more so. Yeah. Wow. So much. And then I was wondering, I saw you had another, a few episodes. I. On colostrum. Yeah. The one with ni not Nike, is that how you say his name and how and breathwork and colostrum that he used to restore his gut. And I was wondering if you could talk about some of that.   [00:34:39] So colostrum is the first milk that comes out of the breast and, or the cow in this case, because if you buy it, you're buying cow colostrum and. It is full of antibodies and transfer factors and immunoglobulin. And in particular, now they're also selling these serum bovine immunoglobulin, which are extracted from colostrums. [00:35:05] So I often recommend those to clients who have serious gut issues, because it just kind of enhances your. Immune system in the gut, without specifically, it's not like an antibiotic, which kind of indiscriminately kills. It's more like bringing in an extra immune system. Mm-hmm . So I often do recommend those powders to people who have something that you don't quite want to hit with an antimicrobial right off the bat.   [00:35:29] So anyway, so in his case though, he used a colostrum to heal his gut. And so it's just, I think it's just a way of bringing in a new immune system to the gut slowly but surely and helping it turn itself around. Yeah, I love them as like, you it's like a supportive, I don't know that it fixes necessarily.   [00:35:47] It's a bandaid and it gives support in the short term and can help promote healing. So I love them. And then I was just interested. For you to also talk about breathwork, which is something that I use in my programs all the time with people. Um, I teach them about the nature of HR V heart rate variability and parasympathetic sympathetic, autonomic nervous system balance.   [00:36:09] And how that really programs your gut, your guts motility. Is that something that you recommend for people?   [00:36:16] I have recommended it to certain people since that podcast in particular. And then since I read the word, the book breath by while I'm in the middle of it by James Nester Yes. So I definitely have gotten more interested in the breath and how it relates to good health in particular.   [00:36:32] Now, if I have a client who snores, I'll suggest mouth taping, mm-hmm . If I have a client for whom. Everything has been tried in terms of diet changes in terms of supplements and antimicrobials. And there's still kind of the root cause of their stress or of their dysfunction has not been identified. I'll really think about breath work and or some other type of practice like meditation or yoga, etcetera, to start reducing stress and just bringing some focus.   [00:37:05] But  I probably have not exploited it to the extent that it could be, because there's always so many different things you can bring in with a client and you don't want to overload them.    [00:37:15] That is so true. And along those lines, I'm wondering if, because we've jumped all over the place, cuz I'm just so excited to talk to you.   [00:37:23] And there's so many things I wanna ask you about and chat with you about, but for everybody listening, can you kind of bring it full circle, maybe using a who comes to mind that maybe had really been suffering for a long time. And who came to you and kind of, what is the process you usually take people through. And what does, what does a gut journey look like?   [00:37:46] for people? So I have such a variety of clients, from people who think they've been suffering a long time because they've had something for a year versus people who've had something for 15 years. And, but I would say, uh, a typical journey might be somebody who comes in with a little more complexity.   [00:38:02] Maybe they have both gut issues and autoimmune issues. Typically, we would just have a first appointment to talk over a complete medical history in the way that no doctor has ever sat and listened to you where I'm gonna totally try and understand all the potential root causes of what has come to pass and how they've ended up where they are.   [00:38:20] And then together we'll decide on what tests fit in based on. What their symptoms are and then what their budget is because obviously not everybody can afford a thousand dollars worth of testing right off the bat. It would be lovely if everybody could, but not everyone can. So we have to be thoughtful about that.   [00:38:37] And then typically we'll get the results back, and then we'll go over those results and all the potential things that could help given what, what was found on the test. And I'll educate them about the protocols that practitioners use to deal with those that's come up, be it some type of dysbiosis or SIBO or overgrowth of candida.   [00:38:57] Or something like the ion profile, we may be looking at deficiencies in amino acids or in fatty acids or vitamins and minerals that can come up on organic acids or on the ion profile. So we'll look at that. And then typically I'm recommending things to them over a period of time because you can't again, throw.   [00:39:15] A hundred supplements at a person at the same time, people can only take so much. I mean, there are, people are just like, give it all to me. I want it all right now but other people are gonna be like, yeah, that's too much both financially and too much in terms of taking pills. So, you know, I'll, I'll explain to them what, what the different supplements the benefits are and what I think in a good order would probably be for doing it.   [00:39:37] And then diet changes, of course, will be recommended based on. What they've already tried, but I find that by the time people get to me, they're usually already eating some version of a paleo diet, or I do occasionally get people who are plant based and I often have to push them towards getting more protein.   [00:39:54] Somehow mm-hmm, potentially moving towards eating some animal protein or some seafood, just because I can see frequent deficiencies, amino acids when that happens. And, it's also very common to see mental health issues in my clients. So if that's the case, then I'm often. You know, educating them about the amino acids that can bring up serotonin and dopamine.   [00:40:16] And you can see the deficiencies of that  on an organic acid test, or you can see actual levels of the amino acids on the ion profile. And then with autoimmune stuff, then we're also looking at supplements that can help reduce inflammation if we've already addressed gut stuff. So typically we'd go through addressing any kind of gut.   [00:40:36] But then after that, if they're still flaring, then we might look at anti-inflammatory supplements, like, you know, fish oil or SPMS, or I get the name of right off the bat. Oh, alpha glyco, ISO Quatrine Soin BAIC or Cuban. Yeah. Curcumin. Right. Those kind of anti-inflammatory things. So over time, you know, I'll educate them about each kind of supplement and how it might play a role in helping them heal. [00:41:04] and yeah, so I'll ultimately see people over the course of five appointments that might take most of a year and slowly but surely help them restore their health and get them at least to a point of stability. There's no magic cure in terms of autoimmune disease. Not everybody's gonna have the results I did because I caught it early enough and there was not so much damage to my thyroid.   [00:41:25] So. You know, you have a certain amount of damage, and it's not gonna be, you're not gonna reverse it, but you may reduce your medication dosages and you may at least get to a point of stability or potentially if, if the client is interested, get off any kind of, you know, steroid medications or. Other autoimmune prescription medications.   [00:41:46] Yeah. Immunosuppressive drugs. Right. I'm curious to know.    [00:41:49] I mean, we're, we're getting short on time. I'm gonna have to let you go, but I wanna know your thoughts on alcohol, cuz my thoughts are not necessarily popular. So I just want to see where you stand on that with gut health. Well, it is toxic. There's no question about that.   [00:42:05] And it does. Kind of go in and cause some damage to gut bacteria. And if you're having guest right and upper GI issues, for sure. It's definitely not helpful. That being said, I can't say I'm a non-drinker, so I'm not, but generally my clients who are really sick are just not drinking in the first place.   [00:42:26] So I'm not having to tell most of them to stay away from alcohol there, but they've already done it themselves. So obviously you want to stay at the lowest levels. You want to be considered a low level drinker, not a moderate level, which unfortunately for a woman is no more than a drink a day. And for men no more than two, up until 65 than one after 65, if I recall correctly.   [00:42:47] And then the other things is that people wanna say, do we all have to stop eating gluten and cow smoke dairy Lindsey?    [00:42:55] We'll typically recommend cutting out gluten and dairy to everybody for some period of time. Now, if I have a very simple case of SIBO that resolves quickly and easily, and the person says, I don't seem to have any problem with gluten, I cut it out, and I put it back in, and I had no difference.   [00:43:12] Then I won't necessarily say you have to cut out gluten. If you have an autoimmune issue, I'm gonna say gluten's gone for life.   [00:43:20] Yeah. I, I generally would agree with that for sure Lindsey, so much great information that you shared today. I know everybody listening has been like, it's a whirlwind Kyrin, you took her all over the place.   [00:43:31] I know, I know guys, but I wanted you to get a sampling of everything that she has to offer. There's so much more, even on her podcast, the perfect stool, which is an amazing name. And great content. You've had some of the same. Yes. I've had Steve Wright and Dr. Gray SL and they're probably more if I continue to look at it, I did wanna ask you about this before we wrap up, you shared, uh, some quotes that you like before we started with me and I just wanna share this one.   [00:44:01] A calorie is not a calorie. And can you tell everyone what that means to you?   [00:44:04] Absolutely. So, number one, I, before I did this, I was. A, an advocate for healthier school food. And one of the things that we fought the most in that particular battle in Montgomery County, Maryland, was to try and reduce the sugar in school food.   [00:44:22] And I remember sitting at a hearing with the state Senate, trying to get a bill passed, to reduce sugar in school food, and having. Former home EC teacher who was a state Senator said, well, a calorie's just a calorie. And I said, no, it is not. In fact, that is a soda marketing campaign to try and convince you.   [00:44:41] You can just go calories and calories out, just exercise more, and you can drink your Coke every day, which I definitely do not believe. So part of the issue with calories is that they're not metabolized the same. So for example, when you eat protein, 25 to 30% of it is. Of the calories of protein is used up just in digesting the protein.   [00:45:01] Whereas it's, it's a much lower number for carbohydrates and fat. So, you know, something like six to 8% of the carbs are used to digest carbs and two to 3% of the fat. So therefore you're getting a lot more calories from your fat and your carbs. And then. You also have different foods and have that have different impact on the body.   [00:45:20] So for example, fructose versus glucose, glucose can be used by almost all your cells. Fructose is going to your liver and ultimately, mostly being stored as fat. So, you know, that's why the whole thing against high fructose corn syrup, not to say glucose is good, but just to say that, that they impact your body differently.   [00:45:37] And then of course you have fiber. So, you know, if you eat a hundred calories of almonds versus a hundred calories of soda, That impacts your body in a completely different way because the almonds have healthy fats, and they have fiber, and that is gonna slow down the absorption of the calories of any sugars, et cetera, that are in the food when you're eating fiber.   [00:45:59] So it just makes a complete difference in which kinds of foods you're eating. A calorie is not a calorie. It's so true.    [00:46:04] And I, I really love to help people understand that a lot of people believe the food that they eat is only about calories. And it's speaking to your system on so many levels. Right.   [00:46:17] Mm-hmm, in so many languages at one time. It's like they're having this international language conference. It's speaking because of its bio force. It's life force, it's PR it's Chi, whatever you want to call it, it's speaking nutrition, right? Certain vitamins, which are not present in soda and in the almonds are of course speaking the fiber language, right.   [00:46:39] Or it's not speaking fiber language. And so about so much more than macronutrients, which are calories. It's about micronutrients, energetic nutrients. And I think that goes to the other quote that you shared with me that I love. I'd rather pay for healthy food now than healthcare later. So one of people's biggest objections to doing this type of work is eating, trying to eat healthy and particularly organic.   [00:47:07] And so talk a little bit about that and then we'll go ahead and wrap up.   [00:47:09] Oh, I just have, I've been of the philosophy since I have tried to turn around my health, that that indeed it is worth it to pay for more expensive organic foods and in particular, and this is a lot of people, they, they think, well, I, I mostly buy organic vegetables and I say, do you eat Pasteur raised meats?   [00:47:29] How about your dairy products? Are they pasture raised? So I don't, I, the only dairy I. Is butter and GE. And so I make sure that those products and, and I know it cost $4 more, a pound for pasture raise butter, but I get it because that's where all the toxins from the body settle into your fat.    [00:47:54] So if you want to maximize your, you know, or minimize your consumption of toxins, then you definitely wanna look for high quality meat and wild cut seafood and that kind of thing not. And then of course, low mercury seafood at that. When you're looking for your animal products, cuz the animals, you know, you think about everything else. It's the build up the entire environment and the plants that builds into the  animal and the protein and the fat.   [00:48:10] So true.    [00:48:14] Thank you so much, Lindsey for joining us today, Lindsey Parsons, we are gonna have links in the show notes. You've got a free E booklet available on your website, finding your root cause through stool and organic acids testing. So I'll have a link over to that.   [00:48:29] We'll have a link to the 30 minute breakthrough session that people can do by phone or video chat. We'll have a link to the podcast also that you definitely wanna check out if you're interested in your health and healing from a root cause. Gut is a huge part of that. So you want to go there and check out the perfect stool so you can have the perfect stool and thanks so much for joining me today.   [00:48:53] Any last words you'd like to leave everybody?    [00:48:54] No, I just wanna thank you so much for bringing me on and for checking out my podcast and recommending it. I really appreciate it.    [00:49:02] It is absolutely my pleasure to have you here, and thank you all for listening today. Thanks for spending a little bit of your day with us.   [00:49:10] Hopefully you have learned something today that you can put into action. This is all about taking action to move your. To the brilliance that it can be. I thank you for joining me, and I'll see you next week until then peace, love and hormones. Y'all thank you so much for listening. I know that incredible vitality occurs for women over 40.   [00:49:32] When we learn to speak hormone and balance these vital regulators to create the health and life that we. If you're enjoying this podcast, I'd love it. If you give me a review and subscribe, it really does help this podcast out so much. You can visit the hormone prescription.com, where we have some free gifts for you, and you can sign up to have a hormone evaluation with me on the podcast to gain clarity into your personal situation until next time.   [00:50:02] Remember, small steps each day to balance your hormones and watch the wonderful changes in your health that begin to unfold for you. Talk to you soon.   Get Lindsey Parsons's free e-booklet: “Finding Your Root Cause Through Stool and Organic Acids Testing.” https://highdeserthealthcoaching.com/newsletter/   30 Minute Breakthrough Session with Lindsey Parsons - by phone or video chat https://calendly.com/highdeserthealth/30-minute-breakthrough-session-by-phone-or-vi-clone   Feeling tired? Can't seem to lose weight, no matter how hard you try? It might be time to check your hormones.   Most people don't even know that their hormones could be the culprit behind their problems. But at Her Hormone Club, we specialize in hormone testing and treatment. We can help you figure out what's going on with your hormones and get you back on track.   We offer advanced hormone testing and treatment from Board Certified Practitioners, so you can feel confident that you're getting the best possible care. Plus, our convenient online consultation process makes it easy to get started.   Try Her Hormone Club for 30 days and see how it can help you feel better than before. CLICK HERE to sign up: https://www.herhormoneclub.com/  

Welcome back to our weekend Cabral HouseCall shows! This is where we answer our community's wellness, weight loss, and anti-aging questions to help people get back on track! Check out today's questions:    Richard: Hi Dr. Cabral, I have recently been looking for a new blender and it seems like much to my surprise, all the descent premium or high end blenders have a plastic jar. After some time of doing research I had decided on purchasing the ninja but then found out that the jar of this particular blender is plastic. This is really concerning to me because it's something that I use everyday and I don't want to be ingesting chemicals from the plastic. I know a lot of these blenders claim that the plastic is BPA free but from what I understand, when BPA is not used they use other chemicals that are just as bad if not worse than BPAs. I also mix in hot water for my morning smoothies to warm them up a bit since I use a lot of frozen fruits so that would make things more problematic. I also use hot water to clean the blender since sometimes there are stains I need to remove. Is this a legitimate concern or am I missing something here? I would love to hear your thoughts on this and some potential alternatives. Thank you for all your help, it is much appreciated!   Kristen: Hello! I've learned and been helped so much through you! After a “virus” my chest feels so much pressure, I went to a cardio dr and all checks out. I do have MTHFR I read that “ Homozygous variants, and some heterozygotes, may see a decrease in the metabolic pathway that converts folate and folic acid (vitamin Bs) into active forms. There can be a build up of homocysteine (amino acid) which has been linked to cardiovascular issues. ” I'm trying to turn over every leaf to get to the bottom of the random pressure when I lay down. Is It possible they are related or is there a connection with either one of these issues. I've done 5 protocols in over a year with significant improvement! To which I'm soo grateful to you and your staff!   Darren: Good day Dr Cabral. I see un ayurveda, they extol the benefits of ghee. I use it but recently started looking at the nutrition facts label and all the grass fed New Zealand based ghee brands I have seen say they contain some trans fat. Is pure grass-fed ghee of transfat concern? ? If ghee has trans-fat, why is ghee called healthy? Or is it a misperception given New Zealand is often touted as favoured by nature when making milk, with a climate, soils, and plentiful water that generate an ideal environment for growing healthy grass and New Zealand livestock access open pasture year-round, meaning space to roam and follow their natural affinity outdoors. Care to make us understand? Thank you   Lori: Hi, I am considering enrolling in your certification program. I am wondering, however, how to utilize it to practice legally in IL and many other states where it seems only an RD or CNS are allowed to make nutritional recommendations to clients. Thank you! ~Lori   Hazel: Im at a loss for breakfast I have high oxalates, a latex alergy and spontaneous uticaria/ dermatographia. I am following your mediteranean diet Many thanks. I listen to all your podcasts   Cody: Hi Dr. Cabral - I get acid reflux, mild diarrhea, and intestinal pain on my left side when I eat mildly spicy or citrus foods. I was curious if I had H Pylori, and I did a stool test and upper endoscopy which both came back negative. I also did an organic acid test which showed high levels of yeast. Before I start the CBO protocol, I decided to try some supplements targeted towards H Pylori just in case due to my symptoms. I've been taking Manuka honey, 1/2 cup cabbage juice, and L. Reuteri. I was fine for 2 weeks, but I'm now starting to get intestinal pain on my left side. I was planning to add mastic gum, but I've put that on hold now. Would you recommend stopping the H Pylori supplements and starting the CBO protocol? Compared to the CBO protocol, I've taken much less potent antimicrobials/antifungals in the past which started out fine but then gradually gave me intestinal pain. This is what led me to trying a treatment targeted towards H Pylori, which testing says I don't have, in the hope that it would allow me to tolerate the CBO protocol better, but I'm already having pain which I suspect is from the strength of the Manuka honey. In addition, zinc supplements give me intestinal pain, but I also take DGL licorice which is fine. Thank you for your time and advice.   Thank you for tuning into today's Cabral HouseCall and be sure to check back tomorrow where we answer more of our community's questions!    - - - Show Notes and Resources: StephenCabral.com/2360 - - - Get a FREE Copy of Dr. Cabral's Book: The Rain Barrel Effect - - - Join the Community & Get Your Questions Answered: CabralSupportGroup.com - - - Dr. Cabral's Most Popular At-Home Lab Tests: > Complete Minerals & Metals Test (Test for mineral imbalances & heavy metal toxicity) - - - > Complete Candida, Metabolic & Vitamins Test (Test for 75 biomarkers including yeast & bacterial gut overgrowth, as well as vitamin levels) - - - > Complete Stress, Mood & Metabolism Test (Discover your complete thyroid, adrenal, hormone, vitamin D & insulin levels) - - - > Complete Food Sensitivity Test (Find out your hidden food sensitivities) - - - > Complete Omega-3 & Inflammation Test (Discover your levels of inflammation related to your omega-6 to omega-3 levels) - - - Get Your Question Answered On An Upcoming HouseCall: StephenCabral.com/askcabral - - - Would You Take 30 Seconds To Rate & Review The Cabral Concept? The best way to help me spread our mission of true natural health is to pass on the good word, and I read and appreciate every review!

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Episode 331. Investigating myself. Topic: Is it me? For the first episode of this series, I compare my whole genome sequencing to the raw data from my health and ancestry test. How do these two methods differ in assessing genetic information.  Are both tests from the same individual? Do they always perfectly match?!Twitter: @3minutelessonEmail: 3minutelesson@gmail.comNew episode every week day!Methodology notes: Paired-end fastq reads from whole genome sequencing (performed by Nebula genomics) were aligned to hg19 with bwa mem to match the genome version of the raw array calls from the health and ancestry test. The identity of the health and ancestry test will not be revealed. Genotypes at array loci were called with bcftools mpileup. Homozygous calls were interpreted as cases where one allele has an frequency of >0.9. Heterozygous calls were verified where two alleles each show an allele frequency of >= 0.1 and

An amazing group of FH experts along with patients will present key information and solutions regarding HoFH. Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/945901?src=mkm_podcast_addon_945901

A case report describing two monozygotic twins with different clinical courses, despite having the same environment and genomic factors. 

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.24.265454v1?rss=1 Authors: Toddes, C., Lefevre, E. M., Brandner, D. D., Zugschwert, L., Rothwell, P. E. Abstract: The mu opioid receptor regulates reward derived from both drug use and natural experiences, including social interaction. Homozygous genetic knockout of the mu opioid receptor (Oprm1-/-) causes social deficits in mice, whereas partial dysregulation of mu opioid signaling has been documented in several human neuropsychiatric disorders. Here, we investigated the social behavior of male and female mice with heterozygous genetic knockout of the mu opioid receptor (Oprm1+/-), modeling partial reduction of mu opioid signaling. Reciprocal social interaction and social conditioned place preference were diminished in Oprm1+/- and Oprm1-/- mutants of both sexes. Interaction with Oprm1 mutants also altered the social behavior of genotypical test partners. We corroborated this latter result using a social preference task, in which genotypical mice preferred interactions with another typical mouse over Oprm1 mutants. We also analyzed inhibitory synapses in the nucleus accumbens, a key brain region for mu opioid regulation of social behavior, using methods that differentiate between medium spiny neurons (MSNs) expressing the D1 or D2 dopamine receptor. Inhibitory synaptic transmission was increased in D2-MSNs of male mutants, but not female mutants, while the density of inhibitory synaptic puncta at the cell body of D2-MSNs was increased in both male and female mutants. These changes in nucleus accumbens microcircuitry were more robust in Oprm1+/- mutants than Oprm1-/- mutants, demonstrating that partial reductions of mu opioid signaling can have large effects on brain function and behavior. Our results support a role for partial dysregulation of mu opioid signaling in social deficits associated with neuropsychiatric conditions. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.07.23.217976v1?rss=1 Authors: Bigio, B., Seeleuthner, Y., Kerner, G., Migaud, M., Rosain, J., Boisson, B., Nasca, C., Puel, A., Bustamante, J., Casanova, J.-L., Abel, L., Cobat, A. Abstract: The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is important, as CNVs may underlie a number of human genetic disorders. The recently developed HMZDelFinder algorithm can detect rare homozygous and hemizygous (HMZ) deletions in WES data more effectively than other widely used tools. Here, we present HMZDelFinder_opt, an approach that outperforms HMZDelFinder for the detection of HMZ deletions, including partial exon deletions in particular, in typical laboratory cohorts that are generated over time under different experimental conditions. We show that using an optimized reference control set of WES data, based on a PCA-derived Euclidean distance for coverage, strongly improves the detection of HMZ deletions both in real patients carrying validated disease-causing deletions and in simulated data. Furthermore, we develop a sliding window approach enabling HMZDelFinder-opt to identify HMZ partial deletions of exons that are otherwise undiscovered by HMZDelFinder. HMZDelFinder_opt is a timely and powerful approach for detecting HMZ deletions, particularly partial exon deletions, in laboratory cohorts, which are typically heterogeneous. Copy rights belong to original authors. Visit the link for more info

Commentary by Dr. Valentin Fuster

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.06.23.150367v1?rss=1 Authors: Eaton, M., Zhang, J., Ma, Z., Park, A. C., Lietzke, E. E., Romero, C. M., Liu, Y., Coleman, E. R., Chen, X., Xiao, T., Huang, Z., Skarnes, W. C., Koss, W. A., Yang, Y. Abstract: Recent large-scale genomic studies have revealed SCN2A as one of the most frequently mutated gene in patients with neurodevelopmental disorders including autism spectrum disorder and intellectual disability. SCN2A encodes for voltage-gated sodium channel isoform 1.2 (Nav1.2), which is mainly expressed in the central nervous system and responsible for the propagation of neuronal action potentials. Homozygous knockout (null) of Scn2a is perinatal lethal, whereas heterozygous knockout of Scn2a results in mild behavior abnormalities. To achieve a more substantial, but not complete, reduction of Scn2a expression, we characterized a Scn2a deficient mouse model using a targeted gene trap knockout (gtKO) strategy to recapitulate loss-of-function SCN2A disorders. This model produces viable homozygous mice (Scn2agtKO/gtKO) that can survive to adulthood, with markedly low but detectable Nav1.2 expression. Although Scn2agtKO/gtKO adult mice possess normal olfactory, taste, hearing, and mechanical sensitivity, they have decreased thermal and cold tolerance. Innate behaviors are profoundly impaired including impaired nesting, marble burying, and mating. These mice also have increased food and water intake with subsequent increases in fecal excretion of more but smaller fecal boli. This novel Scn2a gene trap knockout mouse thus provides a unique model to study pathophysiology associated with Scn2a deficiency. Copy rights belong to original authors. Visit the link for more info

Commentary by Dr. Julia Grapsa

In this episode, Dr Katie Thomas discusses key points from a recent case report published in EHJ – Case Reports. For the paper discussed in this episode, please visit https://doi.org/10.1093/ehjcr/ytz233.

Question: For someone who is homozygous for the H63D allele of the iron- and hemochromatosis-related HFE gene, if ferritin is low but transferrin saturation is high, should they still donate blood?   H63D is one of the genes that predisposes to hemochromatosis, a condition of iron overload. Most clinicians who work in this area do not consider the H63D allele to be a concern because it's less severe. With that said, most people who are progressive on the iron research front do believe it's a concern. There is literature showing that people can get clinical hemochromatosis from it and you don't have to get clinically hemochromatosis to be worried about iron overload.     My opinion on this is going to be different than someone who is an expert clinician, but is not immersing themselves deeply in the physiological literature about how this works.   I don't have the skills that they have in triaging and filtering who’s ideal for what treatment and looking at large numbers of people that do one or another treatment and knowing intuitively what happens in those — but what I do have is I have immersed myself very deeply in the physiology.    So the way that I look at this is as follows: iron saturation is an estimate of your transferrin saturation. It's a cheaper way to estimate it than to actually measure transferrin saturation, so it's much more common to get iron saturation.   But let's assume that we're talking about actual transferrin saturation or that iron saturation is a good metric of it. That's your short-term iron storage. Ferritin is your long-term iron storage. The defect in the H63D allele, same for the C282Y allele of the HFE gene, the two moderate and severe hemochromatosis alleles. Allele is a variant of the gene.   In normal physiology what happens is transferrin acts as a gauge of your iron status. The normal physiological levels are between 30 and 40 percent. Now being 41 percent doesn't mean you have a disease, we're not talking about diagnosis here, we're talking about understanding the physiology.   Mechanistically this is designed so that as you go from 30 to 40 percent and especially as you go over 40 percent that communicates the signal to a hormonal system that says you have more iron than you need. So you ramp down iron absorption and you ramp up ferritin. Why do you ramp up ferritin? Because you have more than you need in your short-term storage, so that's when you put it into your long-term storage. Also, because ferritin is a protective response that prevents you from having free iron.   Free iron is bad because it feeds pathogens and it makes infections worse. Free iron is bad because it causes oxidative stress and causes wear and damage on your tissues. And so to avoid free iron you ramp up ferritin while you take down your absorption from food at the same time.   And now is that a problem at all?  You could debate that, but if you're just talking, if you're not talking about diagnosis and you're talking about wellness, and you're talking about health management then… What I would want to do myself in that situation is I would first of all not let the ferritin go under 20, and if it's going near there I would be getting a CBC to make sure I'm not making myself anemic.    And so I would not stop donating blood just because the ferritin is going down 60, 50, 40, I would consider it a gray area, it would be my preference to focus on the transferrin saturation and get it consistently under 40%. You get the pinprick to look at your serum iron levels, they're not going to let you donate blood if you're actually in the danger zone of anemia.   So I would get the CBC to be proactive about it.   This Q&A can also be found as part of a much longer episode, here: https://chrismasterjohnphd.com/podcast/2019/02/24/ask-anything-nutrition-feb-17-2019/   If you would like to be part of the next live Ask Me Anything About Nutrition, sign up for the CMJ Masterpass, which includes access to these live Zoom sessions, premium features on all my content, and hundreds of dollars of exclusive discounts. You can sign up with a 10% lifetime discount here: https://chrismasterjohnphd.com/q&a

JACC: Case Reports - Audio Summary by Dr. Julia Grapsa

In Episode 177 of Beat Infertility, Nina shares her triumph over homozygous MTHFR. If you need additional support, consider joining Hope University or our Infertility Warrior Tribe. For details on both, please visit https://beatinfertility.co/hopeu.

In Episode 177 of Beat Infertility, Nina shares her triumph over homozygous MTHFR. Infertility coach Heather Huhman helps warriors like you make scientifically-based, well-informed decisions about your next steps. To schedule your free 30-minute call, go to https://beatinfertility.co/hope.

Commentary by Dr. Valentin Fuster

Dr. Tim Jackson is a doctor of Physical Therapy. He also studied nutritional biochemistry, digestive health and its systemic effects, as well as functional endocrinology. He helps people with all sorts of disorders over at HealYourbody.org. He also does online consults through his Heal Your Body Program. In this episode we talked about: What MTHFR means: (It's not your first thought. I know what you were thinking.) It stands for Methylenetetrahydrofolate reductase. (Say that three times fast.) It basically means that if you have it, you lack the ability to activate folic acid into methyl-folate. Then you don't have the useable form of folate and you have too much folic acid sitting around. That's when disorders start popping up. Miscarriages have been associated with MTHFR. Best place to get tested: 23andme.com. You will just get the raw data, no interpretations. Get interpretations at livewello.com or MTHFRSupport.com. Heterozygous means you have one copy Homozygous means you have two copies Polymorphism is a SNP (Single-nucleotide polymorphism) Genetics refers to actual mutations someone might have. Trisomy or Down's Syndrome are examples. Epigenetics are modifiable risk factors, which give us a predisposition to certain diseases or disorders. The key word is modifiable. They are not set in stone. "HG can be the straw that breaks the camel's back." Allostatic load means the sum total of internal and external stressors on the body. "It can take a disease from subclinical to clinical" (expressed). "Any stressor can effect the expression of genes." Exposome means everything you've been exposed to in your life. You can have too little or too much methylation. This effect neurotransmitter production (mood disorders), T-cells (infection and allergies), and Glutithione (which controls free radicals). Can Hyperemesis Gravidarum be an allergy to the hormones, the placenta or the baby? Short answer....YES. Neuro-immune is more accurate than "Auto-immune" to describe this. Liver Detox: Phase 1: oxydation Phase 2: conjugation-methylation Phase 3: Transport to the cell Milk Thistle supports Phase 1 detox. If phase 2 is not adequate, the byproducts of phase 1 sit around causing oxidative stress. B vitamins, NAC (N-acetyl cysteine-precursor to glutithione), Glutithione and Glycine support Phase 2 detox. Oxidative Stress causes all disorders, which go through 3 stages. Stage 1: energetic imbalance (you don't feel bad in this stage) Stage 2: Functional: Fibromyalgia or chronic fatigue syndrome. You feel the effects but there are no biomarkers to show what's going on. Stage 3: lesional-can be seen on an MRI (like Multiple Sclerosis) Inflammation causes fatigue ad premature aging. Lipid Peroxidation: damage to cell membranes What to do about it: Support the methylation cycle Reduce oxidative stress Diet: Clean out processed foods and additives. Remove sugar and gluten. Consider removing dairy Heal your gut (mood disorders are related to leaky gut.) Just because you don't have symptoms, doesn't mean you don't have a disorder. "The system that is disordered might not be what's expressing itself." Supplements: Glutithione: Oral liposomal form, transdermal creams and oral s-acetyl-glutithione Magnesium and zinc are cofactors for methylfolate and other b vitamins. B12 needs methylfolate. Taking methylfolate without B12 could cause "methyl-trapping". To learn more about this, check out my paper about the importance of Magnesium, Zinc and B vitamins. Sign up here and I'll email the paper to you. For more suggestions, check out Dr. Jackson's website. He suggests not taking supplements all at once but after changing your diet to reduce insulin (which is pro-inflammatory), increasing healthy fats (which fuels the liver, tissues and cells and helps balance hormones) then layer in supplements, one at a time. Minerals first, magnesium, then zinc. Then add B vitamins, starting with B12. The last supplement to add is methylfolate. Liver, gallbladder and pancreas: We know the importance of the liver. The gallbladder helps with bile flow. Bile is dependent on glutithione. If you're not methylating in the liver and the bile is backed up, toxins back up. This can mess up our ability to process carbohydrates (diabetes is carbohydrate intolerance) and this has an effect on our pancreas, which produces insulin. If you want to get in touch with Dr. Jackson, you can visit his website at healyourbody.org. Check out his facebook page. Or email him at drtim072981@gmail.com. Let me know what you think! Does this connect some dots for you about your health?

Host: Alan S. Brown, MD, FNLA Dr. Alan Brown welcomes Dr. Daniel J. Rader, Cooper-McLure Professor of Medicine and Pharmacology and Chief of the Division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania. Their discussion focuses on the clinical diagnosis, genetic complexity and prevalence of HoFH while exploring the current and novel modalities available to help HoFH patients achieve their LDL goals. Produced in Partnership with Supported by an Educational Grant from

MDS presents the latest research and findings from the field of Movement Disorders. Abstracts of articles from the Society Journal, Movement Disorders, are taken from the March 2013 (Vol. 28, Issue 3) issue.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases.Methods: 17 individuals who are homozygous for deletions, missense, stop or splice site mutations in the CFTR gene were investigated for clinical symptoms of CF and assessed in CFTR function by sweat test, nasal potential difference and intestinal current measurement.Results: CFTR activity in sweat gland, upper airways and distal intestine was normal for homozygous carriers of G314E or L997F and in the range of F508del homozygotes for homozygous carriers of E92K, W1098L, R553X, R1162X, CFTRdele2(ins186) or CFTRdele2,3(21 kb). Homozygotes for M1101K, 1898+3 A-G or 3849+10 kb C-T were not consistent CF or non-CF in the three bioassays. 14 individuals exhibited some chloride conductance in the airways and/or in the intestine which was identified by the differential response to cAMP and DIDS as being caused by CFTR or at least two other chloride conductances.Discussion: CFTR mutations may lead to unusual electrophysiological or clinical manifestations. In vivo and ex vivo functional assessment of CFTR function and in-depth clinical examination of the index cases are indicated to classify yet uncharacterised CFTR mutations as either disease-causing lesions, risk factors, modifiers or neutral variants.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.

Presented at NACFC Anaheim 2011 this symposium presentation offers information on the current treatment options for patients with cystic fibrosis. Mike Boyle, MD, from Johns Hopkins University School of Medicine offers a 25-minute look at the basics of CF, then describes genotype and CF phenotype relationships. The presentation includes a review the influences of severity of lung disease and outcomes in CF, followed up by issues related to adherence.