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Genetic and Metabolic Disease in Pediatrics by June K. Lloyd,Charles R. Scriver Pdf
Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Unexplained Pediatric Deaths by Elizabeth Bundock,Tracey Corey Pdf
This publication reviews medicolegal investigation of sudden, unexpected pediatric deaths, focusing on systems and procedures in the United States and those deaths which remain incompletely understood or entirely unexplained. It discusses the evolution of our understanding and practice in the area of sudden, unexpected pediatric death investigation, covering the changing philosophies and medical theories as to causation and changing investigative and certification strategies. Procedural guidance for investigation, autopsy and ancillary testing, certification and reporting, and key considerations for prevention, research and working with family members and other professional team members are provided.The path to production of this publication began in 2016 when the National Association of Medical Examiners received a scientific grant from the SUDC Foundation called "Sudden Death in Pediatrics: Consensus for Investigation, Certification, Research Direction and Family Needs" to convene, in collaboration with the American Academy of Pediatrics, an expert panel to identify and discuss the diverse issues and limitations surrounding these deaths and build a foundation for national consensus. The combined effort of a panel of medical examiners, pediatricians, and federal agency representatives, representing the diverse interests of death investigation, autopsy performance, certification, clinical subspecialties (pediatrics, neurology, cardiology, child abuse, injury prevention, infectious diseases, genetics, and metabolic diseases), family needs, prevention, and epidemiology, culminated in this publication.
Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Publisher : Springer Science & Business Media Page : 380 pages File Size : 55,8 Mb Release : 2009-11-21 Category : Medical ISBN : 9783540747239
Inherited Metabolic Diseases by Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Pdf
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Pediatric Genetics and Inborn Errors of Metabolism by Christine M. Houser Pdf
Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.
Atlas of Inherited Metabolic Diseases by William L Nyhan,Georg F Hoffmann Pdf
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
Metabolic Diseases by E. Gilbert-Barness,L.A. Barness,P.M. Farrell Pdf
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Inherited Metabolic Disease in Adults by Carla E. M. Hollak,Robin Lachmann Pdf
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe Publisher : Springer Science & Business Media Page : 421 pages File Size : 48,9 Mb Release : 2013-03-14 Category : Medical ISBN : 9783662031476
Inborn Metabolic Diseases by K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe Pdf
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke
Author : Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke Publisher : Springer Science & Business Media Page : 404 pages File Size : 47,6 Mb Release : 2006-01-16 Category : Medical ISBN : 9783540289623
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke Pdf
This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Inherited Metabolic Epilepsies by Phillip L. Pearl, MD Pdf
"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders." -Elaine Wirrell, MD, Neurology "Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow." -Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science —covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies—supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families. Features Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters Authored and edited by international experts in neurology, metabolic disorders, and genetics A readable and well-illustrated reference for clinicians Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published New chapter on inherited metabolic epilepsies in adult
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Nenad Blau,Carlo Dionisi Vici,Carlos R. Ferreira,Christine Vianey-Saban,Clara D. M. van Karnebeek Pdf
This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.
Potter's Pathology of the Fetus, Infant, and Child by Edith Louise Potter Pdf
This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.
Diseases of the Brain, Head and Neck, Spine 2020–2023 by Juerg Hodler,Rahel A. Kubik-Huch,Gustav K. von Schulthess Pdf
This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.
