Download or read book Molecular Mechanisms of Xeroderma Pigmentosum written by Shamim Ahmad and published by Springer Science & Business Media. This book was released on 2008-11-30 with total page 191 pages. Available in PDF, EPUB and Kindle. Book excerpt: Xeroderma pigmentosum (XP), meaning parchment skin and pigmentary dist- bance, is a rare and mostly autosomal recessive genetic disorder that was originally named by two dermatologists, the Austrian Ferdinand Ritter von Hebra and his H- garian son in law Moritz Kaposi in 1874i and 1883. 2 The earliest published record (PubMed) available on the internet is a publication in 1949 by Ulicna Zapletalova under the title, "Contribution to the pathogenesis of xeroderma pigmentosum". It was in the late 1960s when James Cleaver (contributor of Chapter 1 of this book), at the University of California, San Francisco, while working on nucleotide excision repair (NER), read an article in a local newspaper about XP and soon after obtained a skin biopsy from a patient suffering from XP that showed that cells from it were deficient in NER. Thus, his studies led to the discovery that indeed this genetic defect was due to mutations in DNA repair genes that imbalance the NER pathway. . s The discovery paved the way for further exploration of the link between DNA damage, mutagenesis, neoplastic transformation and DNA repair diseases. Since then, 4,088 papers, incl- ing excellent reviews, on XP are listed on the internet (PubMed data, February 2008), and an XP Society has been established in the USA (http://www. xps. org) and an XP Support Group in the United Kingdom (www. xpsupportgroup. org. uk)
Download or read book Molecular Mechanisms of Xeroderma Pigmentosum written by Shamim I. Ahmad and published by Springer. This book was released on 2008-07-25 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: To understand the molecular mechanisms of XP, XP mouse models have been used, and mice deficient in XPA, XPC, XPD, XPG, XPF, and XPA/CSB have been produced and analysed. A recent elegant technique of targeting gene replacement in mouse embryonic stem cells has provided researchers with the ability to generate mutant mice defective in any specific gene(s). 32 Animals generated in this way display phenotypes and symptoms of XP patients, and have provided valuable tools to understand how and where the deficiency in DNA repair may lead to tumor formation, and also in studies of developmental biology and the aging process. Mouse studies have recently contributed to our understanding of the role of ink4a-Arf in increasing the risk of melanoma photocarcinogenesis in an XPC mutant background. As with many other genetic defects, the distribution of XP globally is not uniform. In most cases the frequency of mutation of a particular trait depends when and where a specific mutation arose, and the longer ago that is, the greater the frequency of mutant in the population unless some selective pressure prevailed. Another factor responsible for the high incidence of any mutation is consanguinity. One of the last chapters analyzes the world distribution of XP and shows that Japan has the highest incidence of XP and of varying complementation groups. After Japan perhaps Egypt suffers most from this inborn error. Here it is also shown that the most common complementation groups are XPA and XPC followed by XPV. XPB and XPE are least frequent. In a recent publication, however, 16 Japanese patients with XPV have been diagnosed and confirmed both clinically and at the cellular level. There is no evidence that interest in XP is waning, and this book should provide both the expert and novice researcher in the field with an excellent overview of the current status of research and pointers to future research goals.
Download or read book Understanding Xeroderma Pigmentosum written by and published by . This book was released on 1995 with total page 22 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book DNA Repair Disorders written by Chikako Nishigori and published by Springer. This book was released on 2018-12-31 with total page 221 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.
Download or read book Xeroderma Pigmentosum New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 28 pages. Available in PDF, EPUB and Kindle. Book excerpt: Xeroderma Pigmentosum: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Xeroderma Pigmentosum in a compact format. The editors have built Xeroderma Pigmentosum: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Xeroderma Pigmentosum in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Xeroderma Pigmentosum: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Download or read book Dermatology Made Easy written by Amanda Oakley and published by Scion Publishing Ltd. This book was released on 2017-05-06 with total page 438 pages. Available in PDF, EPUB and Kindle. Book excerpt: A concise overview of the common dermatological conditions most likely to present in general medicine From reviews: "... a perfect solution to the constant struggle that dermatology diagnosis presents to primary care physicians and other providers... This well-formatted book covers a vast array of topics ranging from common to rare skin disorders. The pictures are immensely helpful in the understanding of various skin rashes...." Fam Med 2019;51(5):451–452. “... easy to read and informative. One cannot emphasise enough the quality and comprehensive nature of the photographic content.... As someone who was interested in dermatology even as a medical student my only regret is that this book was not around when I was a student as it would have very adequately guided me into my beloved subspecialty.” Ulster Med J 2017;86(3):1–1. “The introduction outlines dermatological conditions by symptom, morphology and body site, providing an excellent index prior to delving into greater detail in the following chapters. The logical approach and level of detail make this text perfect for medical students, interns/residents, primary care physicians and other specialists who wish to quickly identify differential diagnoses or refresh their knowledge of dermatological conditions.” A Lecturer in Dermatology Dermatology Made Easy is based on the hugely popular DermNet New Zealand website and is designed to help GPs, medical students and dermatologists diagnose skin conditions with confidence. The book starts by providing a series of comprehensive tables, complete with over 500 thumbnail photos, to aid diagnosis according to symptoms, morphology, or body site. Once you have narrowed down the diagnosis, cross-references then guide you to more detailed descriptions, and another 700 photographs, covering: common infections inflammatory rashes non-inflammatory conditions skin lesions Every section provides consistent information on the disorder: who gets it and what causes it? what are the clinical features and does it cause any complications? how do you diagnose it? how do you treat it and how long does it take to resolve? The book concludes with a comprehensive section on further investigations and treatment options. Dermatology Made Easy combines the essential focus of the Made Easy book series with the authority and knowledge base of DermNet New Zealand’s unparalleled resources. Printed in full colour throughout.
Download or read book Fear Nothing written by Dean Koontz and published by Bantam. This book was released on 2007-06-15 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fear, compassion, evil, courage, hope, wonder, the exquisite terror of not knowing what will happen on the next page to characters you care about deeply—these are the marvels that Dean Koontz weaves into the unique tapestry of every novel. His storytelling talents have earned him the devotion of fans around the world, making him one of the most popular authors of our time, with more than 200 million copies of his books sold worldwide. Christopher Snow is different from all the other residents of Moonlight Bay, different from anyone you've ever met. For Christopher Snow has made his peace with a very rare genetic disorder shared by only one thousand other Americans, a disorder that leaves him dangerously vulnerable to light. His life is filled with the fascinating rituals of one who must embrace the dark. He knows the night as no one else ever will, ever can—the mystery, the beauty, the many terrors, and the eerie, silken rhythms of the night—for it is only at night that he is free. Until the night he witnesses a series of disturbing incidents that sweep him into a violent mystery only he can solve, a mystery that will force him to rise above all fears and confront the many-layered strangeness of Moonlight Bay and its residents. Once again drawing daringly from several genres, Dean Koontz has created a narrative that is a thriller, a mystery, a wild adventure, a novel of friendship, a rousing story of triumph over severe physical limitations, and a haunting cautionary tale. This ebook edition contains a special preview of Dean Koontz’s The Silent Corner.
Download or read book Mohs Micrographic Surgery written by Stephen N. Snow and published by Univ of Wisconsin Press. This book was released on 2004 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mohs Micrographic Surgery, an advanced treatment procedure for skin cancer, offers the highest potential for recovery--even if the skin cancer has been previously treated. This procedure is a state-of-the-art treatment in which the physician serves as surgeon, pathologist, and reconstructive surgeon. It relies on the accuracy of a microscope to trace and ensure removal of skin cancer down to its roots. This procedure allows dermatologists trained in Mohs Surgery to see beyond the visible disease and to precisely identify and remove the entire tumor, leaving healthy tissue unharmed. This procedure is most often used in treating two of the most common forms of skin cancer: basal cell carcinoma and squamous cell carcinoma. The cure rate for Mohs Micrographic Surgery is the highest of all treatments for skin cancer--up to 99 percent even if other forms of treatment have failed. This procedure, the most exact and precise method of tumor removal, minimizes the chance of regrowth and lessens the potential for scarring or disfigurement
Download or read book Seize the Night written by Dean Koontz and published by Bantam. This book was released on 2007-06-15 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: BONUS: This edition contains an excerpt from Dean Koontz's The City. There are no rules in the dark, no place to feel safe, no escape from the shadows. But to save the day, you must...Seize the Night. At no time does Moonlight Bay look more beautiful than at night. Yet it is precisely then that the secluded little town reveals its menace. Now children are disappearing. From their homes. From the streets. And there's nothing their families can do about it. Because in Moonlight Bay, the police work their hardest to conceal crimes and silence victims. No matter what happens in the night, their job is to ensure that nothing disturbs the peace and quiet of Moonlight Bay.... Christopher Snow isn't afraid of the dark. Forced to live in the shadows because of a rare genetic disorder, he knows the night world better than anyone. He believes the lost children are still alive and that their disappearance is connected to the town's most carefully kept, most ominous secret—a secret only he can uncover, a secret that will force him to confront an adversary at one with the most dangerous darkness of all. The darkness inside the human heart.
Download or read book Sunlight Vitamin D and Skin Cancer written by Jörg Reichrath and published by Springer Nature. This book was released on 2020-09-11 with total page 428 pages. Available in PDF, EPUB and Kindle. Book excerpt: The third edition is a comprehensive and updated overview of positive and negative effects of UV-exposure, with a focus on Vitamin D and skin cancer. Researchers, oncologists,and students will be provided with the most significant and timely information related to topics such as the epidemiology of skin cancer, the immune system and skin cancer, ultraviolet damage, DNA repair and Vitamin D in Nonmelanoma skin cancer and malignant melanoma. There have been a number of new, scientific findings in this fast moving field that necessitated a thoroughly updated and revised edition including new Vitamin D metabolites and skin cancer, new findings on the beneficial effects of UV and solar UV and skin cancer, adverse effects of sun protection and sunscreens, sun exposure and mortality, and more. The book will summarize essential, up-to-date information for every clinician or scientist interested in how to balance the positive and negative effects of UV‐exposure to minimize the risks of developing vitamin D deficiency and skin cancer.
Download or read book Neurocutaneous Disorders written by Christos P. Panteliadis and published by "Elsevier,Urban&FischerVerlag". This book was released on 2016-01-14 with total page 315 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Download or read book Handbook of Tumor Syndromes written by Dongyou Liu and published by CRC Press. This book was released on 2020-05-08 with total page 1446 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tumors/cancers are characterized by uncontrolled growths of abnormal cells that extend beyond their usual boundaries and disrupt the normal functions of affected organs and systems. While about 75%–80% of tumors/cancers arise sporadically without a family connection, 20%–25% appear to be familial (including 10%–15% nonhereditary familial tumors [or familial tumors] and 5%–10% hereditary familial tumors [or hereditary tumors]). As nonhereditary and hereditary familial tumors often show both tumor-related and non-tumor-related (or syndromic) symptoms, they are referred to as tumor syndromes (or cancer susceptibility syndromes). In comparison with sporadic tumors/cancers, tumor syndromes (>300 described so far) tend to occur at a younger age, involve multiple organs and systems, produce multiple (often in a distinct spectrum) and bilateral lesions, form multiple hamartomatous, benign, or precursor lesions; locate in specific site(s), display unique syndromic features, and affect multiple members/generations of a family. This book provides state-of-art and authoritative coverage of nearly 100 tumor syndromes, with chapters presenting overviews of individual tumor syndromes in relation to their biology, epidemiology, pathogenesis, clinical features, diagnosis, treatment, and prognosis. Featuring contributions from oncologists, clinicians, and specialists, the book offers a reliable, comprehensive reference on tumor syndromes for scholars and students of medicine, dentistry, pharmacology, nursing, public health, and other biomedical disciplines. Key Features Reviews the biology, epidemiology, pathogenesis, and clinical features of tumor syndromes Contains up-to-date information on the diagnosis and treatment of tumor syndromes Includes expert coverage from leading oncologists and clinicians Related Titles J. R. McIntosh, Understanding Cancer: An Introduction to the Biology, Medicine, and Societal Implications of This Disease (ISBN 978-0-8153-4535-0) P. S. T. Shanmugam, Understanding Cancer Therapies (ISBN 978-1-1381-9815-9) J. M. Baehring and J. M. Piepmeier, eds., Brain Tumors: Practical Guide to Diagnosis and Treatment (ISBN 978-0-3673-9022-8) D. Liu, Tumors and Cancers: Endocrine Glands – Blood – Marrow – Lymph (ISBN 978-1-4987-2975-8) Dongyou Liu, PhD, has worked at several research and clinical laboratories in Australia and the United States for the past three decades, with a focus on molecular characterization of microbial pathogens and detection of human genetic disorders and tumors/cancers. He is the primary author of more than 50 original research and review articles in various peer-reviewed international journals, the contributor of 197 book chapters, and the editor of more than 10 books.
Download or read book Clinical Cases in Early Years Pediatric Dermatology written by Fabio Arcangeli and published by Springer Nature. This book was released on 2022-01-25 with total page 100 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a concise practical guide designed to facilitate the clinical decision-making process in the management of pediatric skin disease. Dermatologists and general pediatricians who offer primary care to children must be knowledgeable in managing dermatological problems, and this title provides insightful reviews of a number of common and rare dermatologic cases. Clinical cases are a key component in modern medical education, assisting the trainee or recertifying clinician to work through unusual scenarios using best practice techniques. Pediatric dermatology is a particularly important discipline in this regard since it is a highly visual subject requiring the reader to describe often very subtle differences in the presentation of patients and define accurately the diagnostic and management criteria on which to base their clinical decision-making. Clinical Cases in Early-Years Pediatric Dermatology concisely covers how to approach diagnosing and managing patients between ages 2 through 5 years. Each chapter focuses on a particular case and emphasizes how to make an appropriate choice when deciding which diagnostic tool or management strategy would be most suitable. Potential complications are detailed and management tips provided to enable the reader to develop a deep understanding of how approach the care of these patients within their day-to-day clinical practice. This book therefore represents an ideal up-to-date resource for all practitioners who encounter these cases as part of their everyday practice.
Download or read book The Genetic Basis of Human Cancer written by Kenneth W. Kinzler and published by McGraw Hill Professional. This book was released on 2002 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt: -- Current coverage of diagnosis and treatment on a wide spectrum of active cancer research.
Download or read book Dermatological Atlas of Indigenous People written by Marcos Cesar Florian and published by Springer. This book was released on 2017-09-07 with total page 93 pages. Available in PDF, EPUB and Kindle. Book excerpt: Skin diseases are highly prevalent among indigenous people, leading to low mortality but greatly impacting their quality of life. Such diseases can be observed in indigenous people; both those living in isolated communities and those who have since been urbanized to some degree share a common characteristic of presenting different clinical patterns than non-indigenous individuals. These specificities necessitate a special approach when diagnosing dermatologic diseases in indigenous people. However, these considerations are rarely discussed in standard dermatology books. This Atlas addresses that gap by providing specific materials for professionals involved in the health of indigenous people, especially with those who live either alone or in remote areas. It offers a comprehensive overview of the most common skin diseases in specific tribes, providing a full clinical guide on the dermatologic signs and symptoms in these individuals. Additionally, the book complements the clinical standpoint with an anthropologic perspective, examining the impact of dermatologic diseases in indigenous people and the different meaning of these diseases in their lives. Most of the material presented in this Atlas was collected in the Xingu Program, a project created in 1965 by the Federal University of São Paulo, Brazil, and devoted to providing medical care to indigenous people from the Upper Xingu region, in the heart of the Amazon rainforest. Thus, the content is primarily applicable to South American indigenous people. However, the common characteristics of the isolation and non-urbanization of these communities, as well as the anthropologic perspective adopted here, allow the content to be extrapolated to other indigenous peoples worldwide. This Atlas will be a novel and valuable resource for health professionals who work with indigenous peoples, especially in geographic areas where dermatologists are not always readily available.
Download or read book Treatment of Skin Disease written by Mark Lebwohl and published by Saunders. This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Treatment of Skin Disease is your definitive source for managing the complete range of dermatologic conditions you're likely to encounter in practice. This medical reference book boasts an intuitive and easy to use format that covers the full spectrum of options, equipping you with not only standard treatment strategies, but second- and third-line therapies for instances when other alternatives fail"--Publisher's website
Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
