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Metabolic Endocrine And Genetic Disorders Of Children
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Book Synopsis Musculoskeletal Diseases 2021-2024 by : Juerg Hodler
Download or read book Musculoskeletal Diseases 2021-2024 written by Juerg Hodler and published by Springer Nature. This book was released on 2021 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book focuses on imaging of the musculoskeletal diseases. Over the last few years, there have been considerable advances in this area, driven by clinical as well as technological developments. The authors are all internationally renowned experts in their field. They are also excellent teachers, and provide didactically outstanding chapters. The book is disease-oriented and covers all relevant imaging modalities, with particular emphasis on magnetic resonance imaging. Important aspects of pediatric imaging are also included. IDKD books are completely re-written every four years. As a result, they offer a comprehensive review of the state of the art in imaging. The book is clearly structured with learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers easily navigate through the text. As an IDKD book, it is particularly valuable for general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic knowledge, and for clinicians interested in imaging as it relates to their specialty.
Book Synopsis Genetic Diagnosis of Endocrine Disorders by : Roy E. Weiss
Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
Book Synopsis Diabetes Mellitus in Children by : Mark A. Sperling
Download or read book Diabetes Mellitus in Children written by Mark A. Sperling and published by . This book was released on 2005 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Genetics of Obesity by : Claude Bouchard
Download or read book The Genetics of Obesity written by Claude Bouchard and published by CRC Press. This book was released on 1994-03-28 with total page 262 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive compilation of the evidence available regarding the role of genetic differences in the etiology of human obesities and their health and metabolic implications. It also identifies the most promising research areas, methods, and strategies for use in future efforts to understand the genetic basis of obesities and their consequences on human health. Leading researchers in their respective fields present contributed chapters on such topics as etiology and the prevalence of obesities, nongenetic determinants of obesity and fat topography, and animal models and molecular biological technology used to delineate the genetic basis of human obesities. A major portion of the book is devoted to human genetic research and clinical observations encompassing adoption studies, twin studies, family studies, single gene effects, temporal trends and etiology heterogeneity, energy intake and food preference, energy expenditure, and susceptibility to metabolic derangements in the obese state. Future directions of research in the field are covered in the book as well.
Book Synopsis Calcium and Bone Disorders in Children and Adolescents by : J. Allgrove
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.
Book Synopsis Genetic and Metabolic Disease in Pediatrics by : June K. Lloyd
Download or read book Genetic and Metabolic Disease in Pediatrics written by June K. Lloyd and published by Butterworth-Heinemann. This book was released on 2014-04-24 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Genetics in Endocrinology by : John D. Baxter
Download or read book Genetics in Endocrinology written by John D. Baxter and published by Lippincott Raven. This book was released on 2002 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: An extensive body of evidence highlights the crucial importance of endocrine genetics. Examples range from human growth disorders and obesity to cancers of the prostate and breast. A pivotal part of the Modern Endocrinology Series, this book presents major biological studies underlining the significance of data obtained from knock-out mice, as well as from transgenic animals. Gene therapy and laboratory evaluation and screening of genetic endocrine diseases are covered, as are many of the classical endocrine diseases.
Download or read book Transition of Care written by M. Polak and published by Karger Medical and Scientific Publishers. This book was released on 2018-06-11 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatricians face many questions and challenges during patients’ transition from childhood to adulthood. Chronic diseases justify long-term medical, psychological, educational, and social management. The establishment of networks with adult endocrinologists is, therefore, very important to achieving optimal conditions for a successful transition period. In this book, leading experts discuss major public health issues such as diabetes and obesity. They also review genetic diseases, including Turner syndrome and congenital adrenal hyperplasia. All clinical cases are presented in a focused way to highlight any issues which might be discussed by the doctor with patients and family. Psychological approaches are debated as are proposals for defining specific tools to encourage autonomy during this life period. This book is a valuable tool and will be helpful in answering many questions for endocrinologists, adult and pediatric, dedicated to the long-term management of patients with chronic diseases.
Book Synopsis Metabolic, Endocrine, and Genetic Disorders of Children by : Vincent C. Kelley
Download or read book Metabolic, Endocrine, and Genetic Disorders of Children written by Vincent C. Kelley and published by HarperCollins Publishers. This book was released on 1974 with total page 606 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Michael B. Ranke Publisher :Karger Medical and Scientific Publishers ISBN 13 :3805594143 Total Pages :548 pages Book Rating :4.8/5 (55 download)
Book Synopsis Diagnostics of Endocrine Function in Children and Adolescents by : Michael B. Ranke
Download or read book Diagnostics of Endocrine Function in Children and Adolescents written by Michael B. Ranke and published by Karger Medical and Scientific Publishers. This book was released on 2011 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: A multitude of new developments, not only in the rapidly advancing field of molecular genetics and steroid metabolism but in all traditional areas of pediatric endocrinology, have influenced the diagnostic approach in children and adolescents with endocrine disorders, thus warranting this 4th, revised and extended edition of 'Diagnostics of Endocrine Function in Children and Adolescents'. Several chapters have been revised completely and all have been thoroughly updated. In addition, new chapters dealing with the muscle-bone unit and bone metabolism have also been incorporated. The original format of the chapters, which are a combination of in-depth discussion of the diagnostic process, practical conclusions and expert advice based on extensive experience, was maintained. Easy-to-use tables and figures allow for quick reference. Flowcharts of possible diagnostic pathways lead to the most frequent diagnoses. Presenting a broad range of diagnostic approaches, test procedures, and normative data required for establishing diagnoses for a broad spectrum of endocrine disorders, this book is an indispensable reference tool not only for endocrinologists and pediatricians but also for professionals in other specialties seeking evidence-based, rapid diagnostic solutions as the basis of advice and therapy for their patients.
Book Synopsis Metabolic Diseases by : E. Gilbert-Barness
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Mitochondrial Medicine by : Saskia Koene
Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genes and Obesity written by and published by Academic Press. This book was released on 2010-12-17 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: A number of genes have been identified that are associated with an increased body mass index (BMI), the standard measurement of obesity. By analyzing these genes, researchers hope to gain a better understanding of what causes obesity and develop ways to tackle the problem. The study of genes and obesity could lead to new treatments. Genes and Obesity reviews the latest developments in the field. - This series provides a forum for discussion of new discoveries, approaches, and ideas - Contributions from leading scholars and industry experts - Reference guide for researchers involved in molecular biology and related fields
Book Synopsis Management of Prader-Willi Syndrome by : Merlin Butler
Download or read book Management of Prader-Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Book Synopsis Biochemical and Molecular Basis of Pediatric Disease by : Edward C.C. Wong
Download or read book Biochemical and Molecular Basis of Pediatric Disease written by Edward C.C. Wong and published by Academic Press. This book was released on 2021-05-13 with total page 1172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Book Synopsis Practical Pediatric Endocrinology in a Limited Resource Setting by : Margaret Zacharin
Download or read book Practical Pediatric Endocrinology in a Limited Resource Setting written by Margaret Zacharin and published by Academic Press. This book was released on 2013-04-11 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical Pediatric Endocrinology in a Limited Resource Setting provides a guide for managing pediatric endocrine problems in a limited resource setting, together with an outline of the bases for these disorders. The book outlines a plan for coming to a likely diagnosis in situations where resources are constrained, and suggests ways to access more sophisticated technologies for diagnostic confirmation and extension of available tools. Further extending and complementing each chapter is a series of scenarios for use as teaching and learning tools. Together with a clinical question, all chapters include a suggested outline for assessment that assists readers facing similar situations in daily practice. Each scenario works through a typical series of deductive steps used to establish a working diagnosis, while considering both a differential diagnosis and reminding readers of current knowledge around the subject matter. - Provides a working knowledge of pediatric endocrinology, from the viewpoint of practical application, for residents and clinicians practicing in settings with scarce material resources - Features clinically based chapters, empahsising workable diagnoses and management plans in limited resource situations - Includes information on Type 1 diabetes mellitus, given its increasing prevalence worldwide - Describes basic research techniques and planning, intended to foster collaboration between colleagues and other centers in clinical or basic research, which can inform clinical practice and drive innovation
Book Synopsis Pediatric Orthopedics and Sports Medicine by : Amr Abdelgawad
Download or read book Pediatric Orthopedics and Sports Medicine written by Amr Abdelgawad and published by Springer Nature. This book was released on 2020-11-24 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: The revised and the expanded second edition of this concise and targeted handbook presents the “need-to-know” musculoskeletal conditions and injuries required for all health care providers dealing with pediatric patients, including primary care physicians, emergency medicine physicians, radiologists, residents, students, nurses, and therapists, to brush up on pediatric orthopedics and sports medicine topics with ease. The most up-to-date information is contained within themed chapters--sports injuries and pediatric trauma, for example--as well as by anatomical region--the hip, knee, foot, spine, etc.--including chapters new to this edition covering pediatric musculoskeletal image interpretation and general aspects of sports medicine. This book addresses high-yield points needed for both general day-to-day pediatric orthopedics and sports medicine practice as well as information needed for the musculoskeletal section of the General Pediatrics Certifying Examination and other board exams for other specialties, physician assistants, nurse practitioners, and physical therapists. Well-illustrated and utilizing an easy-to-follow, bullet-pointed format, Pediatric Orthopedics and Sports Medicine gives the reader the basic knowledge to be able to identify and understand the management of common pediatric orthopedic and sports medicine conditions, and indications to either treat these conditions or refer the patient to an orthopedist.
