Podcasts about Xeroderma

Xeroderma refers to "dry skin," and is a common condition which results in skin roughness, tightness, flaking, and scaling. It can cause pruritus, leading to excoriations and an increased risk of skin infections.. Xeroderma pigmentosum (XP) is a hereditary condition characterized by extreme sun sensitivity, leading to a very high risk of skin cancer and other medical problems. People with XP are extremely sensitive to ultra-violet (UV) radiation from the sun. This includes UV type A and UV type B.

Confira nesta edição do Fala Brasil: Quatro casos de meningite são registrados em creche na Grande São Paulo. Moradores de vilarejo isolado têm doença genética grave e não podem tomar sol.

Para nos ajudar a entender melhor o que é o Xeroderma Pigmentoso e nos contar como vivem as pessoas do povoado de Araras, convidamos a bióloga Lígia Pereira Castro. Ligia faz parte da equipe do geneticista Carlos Menck, do Instituto de Ciências Biomédicas da Universidade de São Paulo (ICB-USP), que desde 2010 vem estudando casos da doença em busca de suas causas e de um possível tratamento.

Bullseye! This week Gracie & Abbey discuss the most underrated American vampire film! Near Dark, even over 30 years later, is still eerily relevant to this day. Hatred against the "other," father's of the night and day, toxic masculinity, and women trying to survive in a patriarchal society (vampire or otherwise) are among some of the talking points. Thanks to Lily LeBlanc for our theme song: www.lilythecomposer.com Thanks to Recess Coffee for being a sponsor: www.recesscoffee.com Check out our friends over at FriGay the 13th: https://www.stitcher.com/podcast/frigay-the-13th Resources: Near Dark (1987). dir. Kathryn Bigelow Auerbach, Nina. Our Vampires, Ourselves. The University of Chicago Press, 2006. Holte, James Craig. Dracula in the Dark: The Dracula Film Adaptations. Greenwood Press, 1997. Palmer, Louis H. Vampires in the New World. Praeger, 2013. Rickels, Laurence A. The Vampire Lectures. Univ. of Minnesota Press, 2008. Simpson, Philip. “Blood Read: The Vampire as Metaphor in Contemporary Culture.” Journal of American & Comparative Cultures, vol. 23, no. 2, 2002. Questia.com. https://www.youtube.com/watch?v=Xf1Fmn5zBzQ https://en.wikipedia.org/wiki/Near_Dark http://www.oxfordbibliographies.com/view/document/obo-9780199791286/obo-9780199791286-0083.xml http://www.gothic.stir.ac.uk/guestblog/american-independent-gothic-near-dark-kathryn-bigelow-1987/ http://www.slate.com/articles/arts/culturebox/2017/10/looking_at_kathryn_bigelow_s_vampire_western_near_dark_30_years_later.html http://brightlightsfilm.com/young-vampires-love-kathryn-bigelows-near-dark/#.W0uJYthKjq0 http://www.shaviro.com/Blog/?p=862 https://film.avclub.com/the-new-cult-canon-near-dark-1798215134 https://en.wikipedia.org/wiki/Xeroderma_pigmentosum http://www.tcm.com/this-month/article/491987%7C0/Near-Dark.html https://www.youtube.com/watch?v=qLtFxykg1ew https://en.wikipedia.org/wiki/The_Hurt_Locker

15 January 2013: Join presenter Dr. Robert Dellavalle as he speaks with Dr. John J. DiGiovanna and Dr. Kenneth H. Kraemer from the National Institutes of Health (NIH) about xeroderma pigmentosum (XP), a defect in DNA repair pathways that is characterized by sun sensitivity and UV radiation-induced skin and mucous membrane cancers.

Dr. Jared Weiss, UNC Lineberger Comprehensive Cancer Center, discusses the genetic risk (or lack thereof) for lung cancer.

Dr. Jared Weiss, UNC Lineberger Comprehensive Cancer Center, discusses the genetic risk (or lack thereof) for lung cancer.

Dr. Jared Weiss, UNC Lineberger Comprehensive Cancer Center, discusses the genetic risk (or lack thereof) for lung cancer.

Wed, 09 May 2012 14:32:40 GMT http://saveyourskin.ch/podcast/DE/6.1.2.Xeroderma_pigment.mp4 Prof. Dr. Dr. h. c. Günter Burg, MD Zürich 2013-03-10T14:32:37Z Prof. Dr. Dr. h. c. Günter Burg, MD Zürich no

Wed, 09 May 2012 14:32:40 GMT http://saveyourskin.ch/podcast/EN/6.1.2.Xeroderma_pigment.mp4 Prof. Dr. Dr. h. c. Günter Burg, MD Zürich & Prof. Dr. Walter Burgdorf, MD 2013-03-10T14:32:37Z Prof. Dr. Dr. h. c. Günter Burg, MD Zürich & Prof. Dr. Walter Burgdorf, MD no

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD Imagine that you have a rare condition called Xeroderma Pigmentosum (XP) in which even the slightest amount of UV radiation from the Sun turns your skin to cancer; left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it. Join Dr. Andrew Krakowski as he joins Dr. Bari Cuningham to discuss her remarkable journey through the wilderness of Guatemala to a small town where an autosomal recessive disease has dominated the local population and cast a shadow on life in this village. Then hear how a new day may be dawning for these special people thanks to a support team that is now championing their cause.

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD It's a rare condition in which even minimal amounts of UV radiation are deadly to the skin. Left untreated, a child will likely die before age 10. Sadly, xeroderma pigmentosum has devastated the local population of a small Guatemalan town. Dr. Bari Cunningham, associate professor of pediatric dermatology at the University of California, San Diego School of Medicine, talks with host Dr. Andrew Krakowski about a journey through the wilderness of Guatemala, where the autosomal recessive disease has cast a shadow on life in this village. But a new day may be dawning for these people, thanks to a support team that is now championing their cause.

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD Imagine that you have a rare condition called xeroderma pigmentosum (XP) in which even the slightest amount of UV radiation from the sun turns your skin to cancer. Left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it. Dr. Bari Cunningham, a pediatric dermatologic surgeon at Rady Children's Hospital of San Diego, journied through the wilderness of Guatemala to a small town where the autosomal recessive disease has dominated the local population and has cast a shadow on life in this simple village. In this segment hear about the fundamentals for the disease process, its prevalence both nationally and globally, and how experts approach XP patients in high- vs low-resource areas. Dr. Andrew Krakowski hosts.

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD It's a rare condition in which even minimal amounts of UV radiation are deadly to the skin. Left untreated, a child will likely die before age 10. Sadly, xeroderma pigmentosum has devastated the local population of a small Guatemalan town. Dr. Bari Cunningham, associate professor of pediatric dermatology at the University of California, San Diego School of Medicine, talks with host Dr. Andrew Krakowski about a journey through the wilderness of Guatemala, where the autosomal recessive disease has cast a shadow on life in this village. But a new day may be dawning for these people, thanks to a support team that is now championing their cause.

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD Imagine that you have a rare condition called xeroderma pigmentosum (XP) in which even the slightest amount of UV radiation from the sun turns your skin to cancer. Left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it. Dr. Bari Cunningham, a pediatric dermatologic surgeon at Rady Children's Hospital of San Diego, journied through the wilderness of Guatemala to a small town where the autosomal recessive disease has dominated the local population and has cast a shadow on life in this simple village. In this segment hear about the fundamentals for the disease process, its prevalence both nationally and globally, and how experts approach XP patients in high- vs low-resource areas. Dr. Andrew Krakowski hosts.

Host: Andrew Krakowski, MD Guest: Bari Cunningham, MD Imagine that you have a rare condition called Xeroderma Pigmentosum (XP) in which even the slightest amount of UV radiation from the Sun turns your skin to cancer; left untreated, you can expect to die within the first 10 years of your life. Also imagine that your brothers and sisters suffer from this same affliction, but your family lacks the resources to do anything about it. Join Dr. Andrew Krakowski as he joins Dr. Bari Cuningham to discuss her remarkable journey through the wilderness of Guatemala to a small town where an autosomal recessive disease has dominated the local population and cast a shadow on life in this village. Then hear how a new day may be dawning for these special people thanks to a support team that is now championing their cause.

Human cells have evolved protective mechanisms such as DNA repair and cell cycle checkpoints in order to promote stability of the genome. Studies on hereditary instability syndromes associated with a higher incidence of malignancies like Xeroderma pigmentosum or Nijmegen breakage syndrome demonstrated that genetic defects and subsequent dysfunction of a specific DNA repair mechanism trigger the development of cancer. Within the last years, the investigation of cell cycle checkpoints gained increasing importance in cancer research. Checkpoints are signaling cascades that halt the cell cycle in response to DNA damage, thereby providing time for repair and preventing accumulation of DNA alterations. While the p53-dependent G1-S checkpoint has been extensively investigated, little is known about other checkpoints in humans such as the G2-M or the S-phase progression checkpoint. Studies on the human cancer syndrome ataxia telangiectasia (AT) showed that AT cells fail to induce several checkpoints in response to ionizing radiation (IR), indicating that a checkpoint gene defect is responsible for the AT-associated cancers. The responsible gene (ATM) has significant sequence homology to the checkpoint kinase gene sprad3 in the fission yeast Schizosaccharomyces pombe (S. pombe). In S. pombe, spRad3 regulates G2-M checkpoint activation in response to DNA damage. Defects in the sprad3 gene, like defects in ATM, sensitize the organisms to radiation and radiomimetic drugs, suggesting conservation of checkpoint pathways from yeast to humans as well as a potential role of the G2-M checkpoint in carcinogenesis. The discovery of G2-M checkpoint-deficient yeast mutants led to the cloning of additional checkpoint genes in yeast and their human homologs. This group of novel human genes includes homologs of sprad9 (hRAD9), sphus1 (hHUS1), and sprad1 (hRAD1). In S. pombe, these genes are required for activation of spRad3, and defects in one or more of these genes render the yeast more sensitive to genotoxic agents. Mutations within the human rad genes may bring about an increased rate of mutations and genomic instability as shown for p53 or AT and may be responsible for inherited predisposition to cancer. In view of this potential importance of human rad genes in the process of carcinogenesis, we have undertaken a cellular and molecular analysis of the novel human checkpoint proteins hRad9, hHus1, and hRad1 in the leukemia cell line K562 and in human keratinocytes. Using specific antibodies to the hRad9, hHus1, and hRad1 proteins we demonstrated with co-immunoprecipitation and Western-blot experiments that the human checkpoint proteins hRad9, hHus1, and hRad1 associate in a biochemical complex similar to the spRad9-spHus1-spRad1 complex reported in fission yeast. To generate a model system of checkpoint protein function amenable to biochemical analysis, we prepared epitope-tagged expression vectors for hRad9, hHus1, and hRad1, which were transfected into K562 cells by electroporation, resulting in transient expression of epitope-tagged protein. By simultaneous expression of hRad9, hHus1, and hRad1 we showed that transiently expressed epitope-tagged checkpoint proteins hRad9, hHus1, and hRad1 recapitulate complex formation of endogenous proteins. Immunoprecipitation studies with lysates of hRad9-overexpressing cells revealed that hRad9 undergoes complex post-translational modifications. Co-expression of hRad9 with hHus1, and hRad1 resulted in a large increase of the amount of a highly modified form of hRad9, suggesting that hRad1 and hHus1 either promote formation of, or stabilize the modified form of hRad9. Previously, a direct correlation between checkpoint protein phosphorylation and activation of DNA damage checkpoints in yeast was proposed. In this study, we show that hRad9 is phosphorylated in response to DNA damage, and that phosphorylated hRad9 interacts with hHus1 and hRad1 as well. The present results suggest that the hRad9-hHus1-hRad1 complex actively participates in an evolutionarily conserved DNA damage-induced signaling cascade. hRad1 seems to possess exonuclease activity. The presence of a putative DNA-metabolizing protein in the multimolecular checkpoint complex, coupled with genetic data that place spRad9, spHus1, and spRad1 early in the response pathway of checkpoint activation suggests that the complex may function as a sensor that scans the genome for damaged DNA. Once damaged DNA is detected, this complex may initiate endonucleolytic processing of the lesions and trigger interactions with downstream signaling elements, or may link unknown damage recognition components to downstream signal-transducing pathways that include the ATM kinase, which is implicated in actively enforcing cell cycle arrest after DNA damage. Potential goals of checkpoint research include the implementation of screening tests to identify familial cancer predisposition and treatment of checkpoint gene defects by gene transfer. Another aim of checkpoint research is the development of checkpoint-based cancer therapy. More than 50% of all human malignant tumors contain mutated p53, and p53-deficient tumor cells lack induction of the G1-S checkpoint in response to DNA damage. One emerging hypothesis is that selective inhibitors of the compensating G2-M checkpoint would preferentially radiosensitize p53-deficient tumor cells. Thus, the investigation of checkpoint function in humans provides further targets for chemotherapeutic agents and will help to design future strategies in cancer therapy.