Download or read book Mapping and DNA sequence analysis of Genes underlying Isolated Autosomal Human Hereditary Alopecia in Pakistani families written by Khushbakht Khan and published by GRIN Verlag. This book was released on 2014-12-23 with total page 90 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bachelor Thesis from the year 2014 in the subject Biology - Micro- and Molecular Biology, grade: 1, International Islamic University, language: English, abstract: Alopecia is a broad term including many forms of hereditary hair loss resulting from genetic defects affecting hair growth cycle or hair structure that vary in age of onset, severity and associated ectodermal abnormalities. The inheritance pattern of alopecia can be autosomal dominant, autosomal recessive or X-linked. Various mutations in several genes on different chromosomes are being identified which are involved in pathogenesis of inherited autosomal recessive alopecia. In present research, two families (A&B) with isolated hereditary alopecia, residing in different zones of Pakistan were ascertained. The mode of inheritance inferred as autosomal recessive. One family was subjected to mutation screening while on other, polymorphic microsatellite markers was used for the purpose of homozygosity mapping to explicate the gene defect. Phenotypic analysis of family A shows the characteristic clinical features of hypotrichosis with sparse hair on head and rest of body and with no associated abnormality. Gene linked to this family in previous research was CDH3. So, splice-junction site and sixteen exons of this gene were sequenced but were negative for functonal sequence variant. This clearly shows mutation must be present in regulatory region of this gene. In family B, affected individual’s shows clinical features of atrichia with papular lesions (APL) which is rare autosomal recessive disorder, characterized by occurrence of complete hair loss with the development of keratin-filled cysts. Known candidate genes (DSG4, HR, LIPH and LPAR6) were tested for homozygosity mapping via polymorphic microsatellite markers. Genotyping data showed no linkage to any of the candidate loci and therefore, their involvement in causing atrichia with papular lesions in this family is not supported.
Download or read book Textbook of Human Reproductive Genetics written by Karen Sermon and published by Cambridge University Press. This book was released on 2014-04-10 with total page 217 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
Download or read book Color Vision written by Karl R. Gegenfurtner and published by Cambridge University Press. This book was released on 2001-05-28 with total page 492 pages. Available in PDF, EPUB and Kindle. Book excerpt: Color Vision, first published in 2000, defines the state of knowledge about all aspects of human and primate color vision.
Download or read book Human Genetics written by Ricki Lewis and published by McGraw-Hill Science, Engineering & Mathematics. This book was released on 2004-02 with total page 439 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Genetics, 6/e is a non-science majors human genetics text that clearly explains what genes are, how they function, how they interact with the environment, and how our understanding of genetics has changed since completion of the human genome project. It is a clear, modern, and exciting book for citizens who will be responsible for evaluating new medical options, new foods, and new technologies in the age of genomics.
Download or read book Cytokine Storm Syndrome written by Randy Q. Cron and published by Springer Nature. This book was released on with total page 609 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Pediatric Hepatology and Liver Transplantation written by Lorenzo D'Antiga and published by Springer. This book was released on 2019-04-29 with total page 817 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first to provide balanced examination of both pediatric liver disease and liver transplantation – two topics that are inherently related, given that most chronic liver disorders eventually require organ replacement. The different forms of liver disease encountered in the pediatric age group are first discussed in a series of disease-specific chapters that have a reader-friendly, uniform structure covering pathophysiology, diagnostic and treatment algorithms, clinical cases, and transition to adult care. Key topics in the field of liver transplantation are then addressed. Examples include indications and contraindications, surgical techniques and complications, immunosuppression, in pediatric liver transplantation, acute and chronic rejection and allograft dysfunction, and CMV and EBV infection in transplant recipients, long-term graft injury and tolerance. A section on pediatric hepatology across the world includes chapters presenting the features and management of pediatric liver disease in South-America, Africa and Asia. A closing section considers what the future holds for pediatric liver disease and its management, including novel genetic testing, cell therapy and gene therapy. Pediatric Hepatology and Liver Transplantation will be of value for a range of practitioners, from residents making their first approach to pediatric liver disease through to specialists working in transplantation centers.
Download or read book Textbook of Pediatric Gastroenterology Hepatology and Nutrition written by Stefano Guandalini and published by Springer. This book was released on 2015-09-30 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook provides a comprehensive and state-of-the-art overview of the major issues specific to the field of pediatric gastroenterology, hepatology, and nutrition. The first part of the book, Gastroenterology and Nutrition, presents in a systematic way the overall scope of issues encountered by children (newborn to teenagers) suffering from disorders of the gastrointestinal tract, pancreas and/or presenting nutritional issues. These chapters are structured in logical sections to facilitate consultation and include major topics ranging from congenital disorders to gastrointestinal problems of the newborn, infectious diseases of the gastrointestinal tract, and approach to nutritional problems in the various pediatric ages. The second part of the book, Hepatology, is articulated in a series of chapters which present a comprehensive review of congenital and acquired disorders of the biliary tract and liver. This section also includes a critical analysis of available diagnostic and therapeutic procedures and future perspectives. Written by experts in the field, Textbook of Pediatric Gastroenterology, Hepatology and Nutrition: A Comprehensive Guide to Practice constitutes a much needed, innovative resource combining updated, reliable and comprehensive information with agile consultation for a streamlined approach to the care of children with such disorders.
Download or read book Human Reproductive and Prenatal Genetics written by Peter C.K. Leung and published by Elsevier. This book was released on 2023-03-22 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: **Selected for Doody's Core Titles® 2024 in Clinical Genetics** Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. - Features chapter contributions from leading international scientists and clinicians - Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more - Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches - Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine
Download or read book Toxicological Profile for Copper written by and published by . This book was released on 2004 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Primary Immunodeficiency Diseases written by Nima Rezaei and published by Springer. This book was released on 2016-11-30 with total page 593 pages. Available in PDF, EPUB and Kindle. Book excerpt: The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. This book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.
Download or read book Handbook of Mouse Mutations with Skin and Hair Abnormalities written by John P. Sundberg and published by CRC Press. This book was released on 1994-05-19 with total page 582 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Mouse Mutations with Skin and Hair Abnormalities presents 48 mouse mutations that are all available to the biomedical community. Many of the mouse mutations with dermatological diseases are reviewed and illustrated in detail. This popular reference book gives you a single source to use when determining which mouse mutation will best serve your needs as a biomedical tool for sophisticated research projects. The book also includes an overview of domestic animal genodermatoses to provide alternatives to mouse models that do not exist or to complement those that do. A detailed section written by renowned experts compares the biology of human and mouse skin and skin diseases in the areas of development and the use of animal models, mammalian genetics, keratin biochemistry, epidermal and hair follicle cycles and kinetics, cytokines and growth factors, keratinocyte culture systems, cutaneous carcinogenesis, cutaneous immune system, and skin changes associated with mutations of the endocrine system.
Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Download or read book Bovine Medicine written by Anthony H. Andrews and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 1233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bovine Medicine provides practical and comprehensive information oncattle disease and production and is a key reference for all largeanimal vets. Since the first edition was published in 1991 therehave been significant improvements in disease control andmanagement of cattle. Almost all parts of the book have beenupdated and completely rewritten. There are new chapters onsurgery, embryo transfer, artificial insemination, ethno-veterinarymedicine and biosecurity, and a new consolidating chapter on theinteraction between the animal, environment, management anddisease. The previous edition has sold all over the world, and as aresult of this a greater emphasis has been placed on conditions andtheir treatment in areas other than temperate regions. A newsection entitled "Global Variation in Cattle Practice" has beenincluded with contributors discussing bovine medicine practice intheir part of the world. All in all this is an outstanding resource for any practisingvet and an excellent reference for veterinary students.
Download or read book Principles of Human Nutrition written by Martin Eastwood and published by John Wiley & Sons. This book was released on 2013-06-05 with total page 1088 pages. Available in PDF, EPUB and Kindle. Book excerpt: This exciting new book is the updated and revised second edition of an extremely popular and well-received textbook. Written by Martin Eastwood, well respected internationally in nutritional sciences, this important new edition provides students with a thorough book that should be adopted for course use on many courses worldwide. Taking into account constructive comments received by students and teachers who used and enjoyed the first edition, this new edition retains the original freshness of the 1st edition, looking at nutrition as an exciting discipline. Special features within the book to help students include summaries, boxes and questions. Carefully laid out to assist learning, the book is divided broadly into sections, providing in-depth coverage of the following subjects: food in the community metabolism of nutrients by an individual, dictated by genetic makeup, measurement of an individual’s nutritional status essential, non-essential and non-nutrients; their selection, ingestion, digestion, absorption and metabolism nutritional requirements in the normal individual and for specific diseases Principles of Human Nutrition, 2nd Edition is primarily written as a course text for those studying degree courses in nutrition and dietetics and for students on modular courses on nutrition within other degree courses, e.g. food studies, medicine, health sciences, nursing and biological sciences. It is also of great value as a reference for professional nutritionists and dietitians, food scientists and health professionals based in academia, in practice and in commercial positions such as within the food and pharmaceutical industries. Multiple copies of this valuable book should also be on the shelves of all universities, medical schools and research establishments where these subjects are studied and taught. For supplementary material associated with this textbook and its contents, please visit the web pages for this book, on the publishers’ website: http://www.blackwellpublishing.com/eastwood/ Martin Eastwood was formerly consultant gastroenterologist at the Western General Hospital, Edinburgh, U. K. and Reader in Medicine at the University of Edinburgh, U. K.
Download or read book Autism Spectrum Disorders written by Stephen Deutsch and published by BoD – Books on Demand. This book was released on 2011-08-01 with total page 214 pages. Available in PDF, EPUB and Kindle. Book excerpt: Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.
