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 Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
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 Jubb Kennedy Palmer s Pathology of Domestic Animals E Book written by Grant Maxie and published by Elsevier Health Sciences. This book was released on 2015-08-16 with total page 912 pages. Available in PDF, EPUB and Kindle. Book excerpt: With an emphasis on the disease conditions of dogs, cats, horses, swine, cattle and small ruminants, Jubb, Kennedy, and Palmer's Pathology of Domestic Animals, 6th Edition continues its long tradition of being the most comprehensive reference book on common domestic mammal pathology. Using a body systems approach, veterinary pathology experts provide overviews of general system characteristics, reactions to insult, and disease conditions that are broken down by type of infectious or toxic insult affecting the anatomical subdivisions of each body system. The sixth edition now boasts a new full-color design, including more than 2,000 high-resolution images of normal and abnormal organs, tissues, and cells. Updated content also includes evolved coverage of disease agents such as the Schmallenberg virus, porcine epidemic diarrhea virus, and the porcine deltacoronavirus; plus new information on molecular-based testing, including polymerase chain reaction (PCR) and in-situ hybridization, keep you abreast of the latest diagnostic capabilities. Updated content includes new and evolving pathogens and diagnostic techniques. Updated bibliographies give readers new entry points into the rapidly expanding literature on each subject. NEW! High-resolution color images clearly depict the diagnostic features of hundreds of conditions. NEW! Introduction to the Diagnostic Process chapter illustrates the whole animal perspective and details the approaches to systemic, multi-system, and polymicrobial disease. NEW! Coverage of camelids is now included in the reference’s widened scope of species. NEW! Team of 30+ expert contributors offers the latest perspective on the continuum of issues in veterinary pathology. NEW! Expanded resources on the companion website include a variety of helpful tools such as full reference lists with entries linked to abstracts in Pub Med and bonus web-only figures. NEW! Full-color design improves the accessibility of the text.
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 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 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 829 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 Cytokine Storm Syndrome written by Randy Q. Cron and published by Springer Nature. This book was released on 2019-09-09 with total page 607 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytokine Storm Syndromes, including HLH and MAS, are frequently fatal disorders, particularly if not recognized early and treated during presentation. The genetics of Cytokine Storm Syndromes are being defined with many of the risk alleles giving rise to mutations in the perforin-mediated cytolytic pathway used by CD8 cytotoxic T cells and natural killer cells. These are being studied using murine models. Up to 10% of the general population may carry risk alleles for developing Cytokine Storm Syndromes, and Cytokine Storm Syndromes are being increasingly recognized around the world in pediatric and adult hospitals. A variety of infectious, rheumatic, and oncologic triggers are commonly associated with Cytokine Storm Syndromes, but understanding this disorder is critical for all researchers and physicians to ensure timely and appropriate therapy. This textbook, the first of its kind, addresses all aspects of the disorder – from genetics, pathophysiology, and ongoing research, to clinical presentations, risk factors, and treatment.
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
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 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: 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 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 Textbook of Plastic and Reconstructive Surgery written by Deepak K. Kalaskar and published by UCL Press. This book was released on 2016-08-02 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by experts from London’s renowned Royal Free Hospital, Textbook of Plastic and Reconstructive Surgery offers a comprehensive overview of the vast topic of reconstructive plastic surgery and its various subspecialties for introductory plastic surgery and surgical science courses. The book comprises five sections covering the fundamental principles of plastic surgery, cancer, burns and trauma, paediatric plastic surgery and aesthetic surgery, and covers the breadth of knowledge that students need to further their career in this exciting field. Additional coverage of areas in which reconstructive surgery techniques are called upon includes abdominal wall reconstruction, ear reconstruction and genital reconstruction. A chapter on aesthetic surgery includes facial aesthetic surgery and blepharoplasty, aesthetic breast surgery, body contouring and the evolution of hair transplantation.The broad scope of this volume and attention to often neglected specialisms such as military plastic surgery make this a unique contribution to the field. Heavily illustrated throughout, Textbook of Plastic and Reconstructive Surgery is essential reading for anyone interested in furthering their knowledge of this exciting field. This book was produced as part of JISC's Institution as e-Textbook Publisher project. Find out more at https://www.jisc.ac.uk/rd/projects/institution-as-e-textbook-publisher
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 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 Calcium and Bone Disorders in Children and Adolescents written by J. Allgrove and published by Karger Medical and Scientific Publishers. This book was released on 2015-06-11 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.
