Podcasts about eur j hum genet

Neste episódio especial da PEBMED em parceria com a Pfizer, Marcelo Gobbo, médico de comunidade e família e editor médico do Portal recebe a neurologista Viviane Carvalho para falar sobre PAF, a Polineuropatia Amiloidótica Familiar, uma condição rara que pode ter sua trajetória modificada quando identificada precocemente e adequadamente tratada. Referências Bibliográficas: 1- Picken MM. The Pathology of Amyloidosis in Classification: A Review. Acta Haematol. 2020;143(4):322-334. doi: 10.1159/000506696. Epub 2020 May 11. PMID: 32392555. 2- Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019 Jul;15(7):387-404. doi: 10.1038/s41582-019-0210-4. Epub 2019 Jun 17. PMID: 31209302. 3- Guevara C, Barrientos N, Flores A, Idiáquez J. Polineuropatia amiloidótica familiar tipo I. Rev Méd Chile. 2003;131:1179-82. 4- Centenário do nascimento de Corino de Andrade. Sinapse, publicação da Sociedade Portuguesa de Neurologia, Suplemento 1, Volume 6, Nº1, Maio de 2006. 5- Andrade, C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952 Sep;75(3):408-27. doi: 10.1093/brain/75.3.408. PMID: 12978172.) 6- Saporta, M. A. C., C Zaros, M W Cruz, C André, M Misrahi, et al. "Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families." European journal of neurology 16.3 (2009): 337-341. 7- Vieira M, Saraiva MJ. Transthyretin: a multifaceted protein. Biomol Concepts. 2014 Mar;5(1):45-54. doi: 10.1515/bmc-2013-0038. PMID: 25372741. 8- Galant NJ, Westermark P, Higaki JN, Chakrabartty Al. Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy. Clin Sci. 2017 ;131(5):395-409 9-Simões M. V., Fernandes F, Marcondes-Braga F, Scheinberg P, Correia E, et al. Posicionamento sobre Diagnóstico e Tratamento da Amiloidose Cardíaca (2021). Arquivos Brasileiros de Cardiologia, 117, 561-598. 10- Bonaiti B, Olson M, Hellman U, Surh O, Bonaiti-Pellie C, et al. TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? Eur J Hum Genet. 2010;18(8):948- 52 11- Ando Y, Coelho T, Berk J, Cruz M, Ericzon B-G, et al. Guideline of transthyretin- related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31 12- Salvi F, Pastorelli F, Plasmati R, Bartolomei I, Dall'Osso D, et al. Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid. 2012;19 Suppl 1:58-60. 13-Gertz MA, Benson M, Dyck PJ, Grogan M, et al. Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis. J Am Coll Cardiol. 2015 Dec 1;66(21):2451-2466. doi: 10.1016/j.jacc.2015.09.075. PMID: 26610878 14- Luiz F. Pinto, MD; and Marcus V. Pinto, MD, MS. The most common amyloidosis are both treatable; accurate diagnosis is paramount. Practical Neurology, July, 2021.

In this episode, we begin by reflecting on the counselling interventions and issues raised in episode 3: testing of children. We then introduce a new case about Kaitlin* and her husband Ben, who encounter a difficult decision in pregnancy. Join the discussion on social media with #GCchatpodcast More information about topics referenced in our discussion: Shkedi-Rafid, et al. (2014), Genetic testing of children for adult-onset conditions: opinions of the British adult population and implications for clinical practice, Eur J Hum Genet 23, 1281–1285. Metcalfe, et al. (2008), Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research, Eur J Hum Genet 16(10): 1193-1200. On our website, you will find suggestions for support, our privacy statement and disclaimer, and more information about topics referenced in our discussion. http://www.gcchatpodcast.libsyn.com *Pseudonyms are used throughout

In this episode, we firstly reflect on the counselling interventions and issues raised in episode 2: family secrets. We then introduce a new case about Paul*, his family and the issue of testing children for a genetic condition for which there is no proven medical benefit in knowing.    Join the discussion on social media with #GCchatpodcast More information about topics referenced in our discussion: Schema et al., (2015), Clearing the Air: A Qualitative Investigation of Genetic Counselors’ Experiences of Counselor‐Focused Patient Anger. J Genet Counsel, 24: 717-731. Baty M (2010), Facing Patient Anger in LeRoy, McCarthy Veach, Bartels (eds) (2010), Genetic counseling practice: Advanced concepts and skills. (pp.125-154). Wiley-Blackwell, USA. Barsevick et al., (2008). Intention to communicate BRCA1/BRCA2 genetic test results to the family. Journal of Family Psychology, 22(2): 303-312. Ritchie (1991). Family communication patterns: An epistemic analysis and conceptual Reinterpretation. Commun Res, 18, 548–565. Koerner, LeRoy & Veach (2010), Family Communication Patterns in Gaff & Byland (Eds) Family communication about genetics: Theory and practice.(pp. 187 – 189). New York, NY:Oxford University Press. McClellan et al., (2013), Exploring resources for intrafamilial communication of cancer genetic risk: we still need to talk. Eur J Hum Genet, 21(9): 903–910. Vavolizza RD, et al. (2014), Disclosing genetic information to family members about inherited cardiac arrhythmias: an obligation or a choice? J Genet Couns, 24:608–615. Our privacy statement and disclaimer can be found here: http://traffic.libsyn.com/gcchatpodcast/GC_Chat_Podcast_Disclaimer_version1.pdf

Guest: Dr. Annemieke Aartsma-Rus, DMD Genetic Therapy Group, Dept. of Human Genetics, Leiden University Medical Center, The Netherlands Access an abstract of this Month's Featured Research Article: Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet. 2010 Feb;18(2):146-53.

Guest: Dr. Annemieke Aartsma-Rus, DMD Genetic Therapy Group, Dept. of Human Genetics, Leiden University Medical Center, The Netherlands Access an abstract of this Month's Featured Research Article: Progress in therapeutic antisense applications for neuromuscular disorders. Eur J Hum Genet. 2010 Feb;18(2):146-53.