JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

"Metabolism of Human Diseases" examines the physiology of key organs (e.g. brain, eye, lung, heart, blood vessels, blood, immune system, gastrointestinal tract, pancreas, liver, fat tissue, kidney, reproductive system, teeth, bone and joints) and how defective metabolism and signaling pathways within these organs contribute to common human diseases. The latter include depression, schizophrenia, epilepsy, Parkinson's disease, Alzheimer's disease, migraine, multiple sclerosis, Down syndrome, macular degeneration, glaucoma, asthma, COPD, pneumonia, atherosclerotic heart disease, heart failure, stroke, varicose veins, Sickle cell disease, hyperlipidemia, fever, sepsis, allergies, peptic ulcer, gastroenteritis, lactose intolerance, colon cancer, diabetes, cirrhosis, metabolic syndrome, hypertension, chronic kidney disease, gout, urinary tract infections, kidney stones, dental caries, osteoporosis, osteoarthritis, rheumatoid arthritis, breast cancer and prostate cancer. The book also describes commonly used drugs and explains their molecular targets. It provides the first comprehensive and detailed summary of the metabolism of individual organs and their physiological and pathological functioning. Thus it serves as a useful supplement to previous textbooks of human physiology. "Metabolism of Human Diseases" " "is a must-have, state-of-the-arttextbook written by International experts for graduate students, postdocs andscientists in metabolic research, biochemistry, physiology and pharmacy as well as for physicians interested in molecular mechanisms underlying common human diseases."

Das massgebliche Referenzwerk zur Erkennung und Behandlung von akuten endokrinen und Stoffwechselerkrankungen Die Endokrinologie beschaftigt sich mit den haufigsten Krankheitsbildern und ernsthaften Erkrankungen, mit denen die heutige Medizin zu kampfen hat. Im klinischen Umfeld lassen sich Notfalle zum Grossteil auf Stoerungen des endokrinen Systems und des Stoffwechsels zuruckfuhren. Endocrine and Metabolic Medical Emergencies: A Clinician's Guide ist ein einzigartiges Referenzwerk, unterstutzt Endokrinologen, Notfall- und Allgemeinmediziner in Kliniken, Hospitalisten und Intensivmediziner und Allgemeinmediziner dabei, die Symptome endokriner Notfalle zu erkennen und die Patienten optimal und nach den hoechsten Standards zu versorgen. Die neue 2. Auflage dieses Buches, das bereits als das massgebliche Referenzwerk des Fachgebiets gilt, bietet bei bekannten und ungewoehnlichen endokrinen Notfallen Richtlinien fur die Akutversorgung, erlautert im Detail die Auswirkungen von akutmedizinischen und kritischen Erkrankungen auf den Stoffwechsel und das endokrine System und deren Einfluss auf Untersuchungen des endokrinen Systems, beschreibt besondere Patientenpopulationen, auch den Einfluss des Alterns, von Schwangerschaft, Transplantationen, Spatfolgen, von perioperativen Vorfallen, angeborenen Stoffwechselerkrankungen sowie von HIV/AIDS bei der Vorstellung und dem Management von Patienten. Weiterhin werden die mit dem jeweiligen System verbundenen Erkrankungen ausfuhrlich behandelt, ebenso stoffwechselbedingte Knochenerkrankungen, neuroendokrine Tumore u.v.a. Dieser Leitfaden enthalt unzahlige Fallstudien, Abbildungen und Kapitel, die von renommierten Autoren geschrieben wurden, und eignet sich zum schnellen Nachschlagen und fur das Studium. Behandelt werden Vorstellung, Diagnose, Management und Behandlung von Patienten mit Erkrankungen des endokrinen Systems und des Stoffwechsels auf Intensivstationen. Aktuelle Leitlinien befassen sich mit Themen wie klinische Lipidologie, Glukose, Natrium, Kalzium, Phosphat usw. Dieses unschatzbare Referenzwerk vereint die neuesten wissenschaftlichen Erkenntnisse mit Ratschlagen fur Klinik und Praxis. Kliniker erhalten alles aktuell Wissenswerte des Fachgebiets an die Hand sowie einen praxisorientierten klinischen Einblick, um Patienten optimal zu versorgen.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

The metabolomics and systems biology approach to research can be applied to many disciplines. This book provides a solid introduction to medical metabolomics and systems biology, and demonstrates how they have been applied to studies in medicine and human health, including nutrition and pathogenic microorganisms. Following core themes of diagnosis, pathology and aetiology of disease, this book provides a reference for health care professionals interested in how to use metabolomics for medical research.

This book provides a perspective on the current status of bioimaging technologies developed to assess the quality of musculoskeletal tissue with an emphasis on bone and cartilage. It offers evaluations of scaffold biomaterials developed for enhancing the repair of musculoskeletal tissues. These bioimaging techniques include micro-CT, nano-CT, pQCT/QCT, MRI, and ultrasound.

The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialised centre is emphasised in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

Human health issues relating to amino acids are extremely broad and include metabolic disorders of amino acid metabolism as well as their presence in food and use as supplements. This book covers the biochemistry of amino acid metabolism in the context of health and disease. It discusses their use as food supplements, in clinical therapy and nutritional support and focuses on major recent developments, highlighting new areas of research that will be needed to sustain further interest in the field.

This book brings together the behavioral, physiological, and neuroendocrine regulation of calcium. An understanding of how the brain orchestrates whole-body demands for calcium is introduced. The approach is one in which behavior in addition to physiology serves bodily maintenance. The book links basic and clinical literature surrounding calcium homeostasis, as a wide variety of clinical syndromes are tied to calcium metabolism. Because calcium is so important during life stages particular to women, an emphasis is placed on the relevance of calcium to women's health throughout the book, though not exclusively since calcium is fundamental to both sexes.

This book brings together the behavioral, physiological, and neuroendocrine regulation of calcium. An understanding of how the brain orchestrates whole-body demands for calcium is introduced. The approach is one in which behavior in addition to physiology serves bodily maintenance. The book links basic and clinical literature surrounding calcium homeostasis, as a wide variety of clinical syndromes are tied to calcium metabolism. Because calcium is so important during life stages particular to women, an emphasis is placed on the relevance of calcium to women's health throughout the book, though not exclusively since calcium is fundamental to both sexes.

Metabolic disorder is caused by a gene defect, environmental factors or an unknown aetiology. Altered metabolism caused by these factors affects normal function of various organs including the brain and may lead to abnormal phenotype. Understanding agents of causing these abnormalities is useful to interpret possible targets in these diseases. This book reveals what factors contribute in lysosomal storage diseases, Phenylketonuria and Canavan disease, as they are major emerging diseases in multiethnic populations.

The Diabetes LIFEMAP changes the way chronic diabetes care is delivered forever. The LIFEMAP raises diabetes care for the primary care and ancillary healthcare provider to the level of world renown diabetes expert, David Bleich, MD. For patients, the LIFEMAP provides real-time diabetes care that changes a "tough-to-manage" disease into a shared, personal, and efficient management experience. The LIFEMAP can be used as a stand-alone diabetes management tool or can be combined with our cloud based LIFEMAP platform through GoMo Health. Now care can be delivered seamlessly at home for both provider and patient. The Diabetes LIFEMAP is the playbook for 21st century diabetes care. It starts with an understanding of the basic principles of insulin secretion and moves to a discussion of how the LIFEMAP evolved and why it is such a powerful management tool. Finally, case studies are provided to reinforce basic concepts of LIFEMAP diabetes care with real world examples. Taken together, The Diabetes LIFEMAP succeeds in helping healthcare providers overcome a difficult to manage disease and provides patients with an optimal diabetes outcome with the least amount of effort necessary to achieve high level results.

In just under three decades, the world has witnessed an enormous rise in obesity with a parallel growth in cardiometabolic disease risk factors characterized by insulin resistance, dyslipidemia, and hypertension, together known as the metabolic syndrome - conditions previously unheard of in children and adolescents. During this time, we have little knowledge of the global and cumulative detrimental health effects of childhood obesity. As obese children age, not only will their health be negatively affected, but infertility and pregnancy complications associated with the metabolic syndrome will affect generations to come. The work force will undoubtedly be affected because of increased sick days and decreased work productivity. Identifying children and adolescents at the earliest stages of chronic disease onset should be the goal of clinical practice, yet there is no clear guidance for defining the risk of metabolic syndrome or appropriate risk-factor thresholds in these groups. If children are identified early in the disease process, lifestyle and clinical interventions can be instituted when they are potentially more effective. Pediatric Metabolic Syndrome: Comprehensive Clinical Review and Related Health Issues approaches the pediatric metabolic syndrome by elucidating its effects on specific organ systems and by considering the problem through understanding the social, psychological and economic consequences of it. The Editors have recruited an invited group of esteemed experts in the field to provide the most timely and informative approaches on how to deal with this health crisis. Through educating our practitioners, our future researchers, our health and community organizations, our legislators and our families and children, we have the best chance at improving the health trajectory of the next generation.

This book is dedicated to an update on metabolic disorders and their consequences on the developing nervous system. In the last ten years, major scientific advances in biochemical diagnosis have enabled the identification of many new disease entities, as well as a better classification of clinical symptoms and their correlation to biochemical defects. This volume provides an introduction to basic sciences specifically relevant to this disease group, then focuses on each subgroup in turn: hyperphenylalaninaemias, mitochondrial encephalomyopathies, organic acidoses, urea cycle defects, lysosomal storage and peroxylsomal disorders. Finally, a discussion of long term follow-up and family related issues also reports the results of a four-year research project led by the Mariani Foundation.

Wenn bei einem Kind Diabetes diagnostiziert wird, fragen sich Eltern, wie sie sich der Verantwortung stellen koennen und wie sich der Familienalltag verandern wird. Die Autoren, zwei Kinder- und Jugendarzte und eine Psychologin, geben luckenlos Antwort und helfen Eltern, ihre AEngste abzubauen. Sie begleiten sechs Kinder und Jugendliche mit Diabetes und zeigen, wie das Familienleben mit der Krankheit organisiert werden kann. Mit vielen Tipps und Hinweisen zu allen Fragen, die die Lebensgestaltung und die Zukunft eines Kindes mit Diabetes betreffen.

Selected as a Doody's Core Title for 2022! Ideal for all health care professionals who evaluate, diagnose, treat, or refer patients with endocrine disease or disorders, Manual of Endocrinology and Metabolism, Fifth Edition , brings together nearly 150 global authorities who share their knowledge and expertise on endocrine disorders in children, adolescents, and adults. Using a concise outline format, this thoroughly updated manual presents clinical information and protocols needed in everyday practice, with an emphasis on diagnosis and treatment. Succinct chapters and an abundance of tables and diagrams make complex information easy to find and understand. Includes coverage of fundamental understandings and treatment modalities as well as recent therapies, new methods of treatment, new understandings of endocrine physiology, and new surgical approaches to disease states Covers evaluation, pathophysiology, management, and treatment at every age of life, along with short- and long-term goals of reversibility and prevention New chapters include transgender medicine, flushing and sweating, nasal administration of hormones, the growth plate, as well as traumatic brain injury and hypopituitarism New topics include galactorrhea; preoperative, intraoperative, and postoperative management following pituitary surgery; growth hormone in adults, polycystic ovary syndrome, hypercalcemic crisis, parathyroid hormone-related protein, congenital hyperinsulinism, and hypokalemic periodic and non-periodic paralysis New and expanded coverage of diabetes mellitus includes hypoglycemia-associated autonomic failure, glucocorticoid-induced hyperglycemia, C-peptide, cystic fibrosis-related diabetes, the artificial pancreas, glycated proteins, inhaled insulin, and the application of stem cells in diabetes mellitus Serves as an excellent resource for board preparation, as well as a concise daily reference for endocrinologists, general practitioners, internists, pediatricians, physician assistants, nurse practitioners, and others who see patients with primary or underlying endocrine disease Enrich Your eBook Reading Experience with Enhanced Video, Audio and Interactive Capabilities! Read directly on your preferred device(s ), such as computer, tablet, or smartphone Easily convert to audiobook , powering your content with natural language text-to-speech Adapt for unique reading needs , supporting learning disabilities, visual/auditory impairments, second-language or literacy challenges, and more

Unter Mitarbeit zahlreicher Fachwissenschaftler

Diabetes in Medizin- und Kulturgeschichte behandelt die Geschichte der wissenschaftlichen Erforschung dieses Leidens von der Antike bis zur Entdeckung des Insulins (1921) unter gleichzeitiger Berucksichtigung der Geschichte des Patienten und kulturhistorischer Hintergrunde. Die abgedruckten medizinhistorischen Studien eroertern sowohl allgemeine Zusammenhange wie spezifische Details und besondere Forschungsleistungen der Vergangenheit. In der Bibliographie der Quellen werden die wesentlichen historischen Beitrage der Diabetesforschung und Diabetestherapie mit den Autoren und der Angabe der Druckorte zusammengestellt. Die Bibliographie der Sekundarliteratur vereinigt internationale Studien seit dem vergangenen Jahrhundert bis in die jungste Gegenwart uber die Geschichte der Theorien des Diabetes und der therapeutischen Ansatze. Abbildungen und literarische Texte dokumentieren kulturhistorische Zusammenhange. Ein Personen- und Sachregister erleichtert die Benutzung dieses Bandes, der insgesamt Mediziner, Medizinhistoriker, Medizinstudenten, Allgemeinhistoriker wie auch Diabetespatienten anregen moechte.

Why Do I Still Have Thyroid Symptoms? was written to address the true causes of hypothyroidism in this country and how to manage them. The vast majority of hypothyroid cases are caused by Hashimoto's disease, an autoimmune reaction, and are being treated inappropriately or misdiagnosed by the standard health care model. Through exhaustive research and clinical experience, Dr. Kharrazian has discovered the many causes of hypothyroidism, including autoimmunity, and how to manage it. NOTE: This is the same thyroid book but under a new publisher. To read reviews of the book, please visit the old listing at http: //www.amazon.com/Still-Thyroid-Symptoms-Tests-Normal/dp/1600376703/ref=sr_1_1?ie=UTF8&qid=1348258676&sr=8-1&keywords=kharrazian.

Frank Nawroth thematisiert das Social Freezing und die zugehoerige Beratung, die nicht nur Chancen, sondern auch denkbare Komplikationen und Grenzen der Methode aufzeigen muss. Zum Beispiel haben die gesellschaftspolitisch nicht optimal geloeste Problematik des moeglichen Karriere-Nachteils einer berufstatigen Mutter oder die haufig bestehende Schwierigkeit, den geeigneten Partner zu finden, bei gleichzeitig verbesserten Kryokonservierungsmethoden dazu gefuhrt, dass Frauen ohne medizinische Indikation uber das Einfrieren ihrer Eizellen nachdenken. Die Technologie selbst ist seit Langerem Routine vor fertilitatsbeeintrachtigenden Therapien onkologischer Erkrankungen (Operation, Strahlen- und/oder Chemotherapie) im reproduktiven Alter.

Das Standardwerk zur arteriellen Hypertonie, das keine noch so knifflige Frage auslasst! Die Klinik aller Hypertonieformen, die zeitgemasse Diagnostik und alle etablierten und neuen Therapieansatze sind von den jeweiligen Top-Spezialisten beschrieben. Ein besonderer Schwerpunkt liegt auf dem Umgang mit speziellen therapeutischen Problemen. Kein Arzt in Praxis und Klinik, der Patienten mit arterieller Hypertonie betreut, kann auf dieses Buch verzichten. Von der Hochdruckliga wird das Buch empfohlen.

H. E. Schaefer Pathologisches Institut, Universitat Freiburg Dieser Band berichtet uber die 6. Arbeitstagung der Deutschen Gesellschaft fur Arterioskleroseforschung, die vom 5. bis 7. April 1992 am nun schon gewohnten Tagungsort, im Heinrich Fabri-Institut in Blaubeuren, stattgefunden hat. Dieses Haus bietet die Moglichkeit, am gleichen Ort zu tagen und zu wohnen, und garantiert insofern ideale Rahmenbedingungen fur einen intensiven Gedanken austausch. In einer besonderen Feierstunde dankte die Gesellschaft dem Prasidenten der Universitat Tubingen, Herrn Dr. A. Theis, fur das bereits mehrjahrig genossene Gastrecht, insbesondere aber auch ihrem Sponsor der ersten Stunde, Herrn Ehrensenator Adolf Merckle, Inhaber der Firma Merckle GmbH - Chemisch-Pharmazeutische Fabrik/Blaubeuren, fur die grosszugige Finanzierung dieser Tagung. Einen besonderen Akzent erfuhr diese Tagung durch die erstmalige Verleihung des W. H. Hauss-Preises an Herrn Dr. H. A. Lehr vom Institut fur Chirurgische Experimentalforschung der Ludwig-Maximilians-Universitat Munchen fur seine Arbeit "Superoxide-dependent stimulation of leukocyte adhesion by oxidatively modified low density lipoprotein in vivo." Uber Inhalt und Bedeutung dieser Forschungen zur Thematik der Stimulation von Leukozyten durch oxidativ modifizierte LDL kann sich der Leser durch einen weiterfuhrenden Beitrag der Arbeitsgruppe um Herrn Dr. Lehr in diesem Tagungsband informieren. Je ein Preis fur den besten Vortrag sowie fur das beste Poster der Tagung wurden an die Autoren Dr. M. Thie (Munster) und D. Axel (Tubingen) verliehen. Diese neu eingerichteten Preise sind dankenswerter Weise von der Firma Lichtwer Pharma GmbHlBerlin gestiftet worden."