Metabolic disorder caused by altered levels of metabolism resulting pathophysiological abnormalities often leads to childhood death. Several new developments on metabolic diseases research have been emerging. Gaucher disease is a lysosomal storage disorder caused by glucocerebrosidase gene mutations resulting glucocerebrosidase deficiency. Current studies show that the same gene mutations also contribute to the Parkinson's disease. Tetrahydrobiopterin (BH4) has been widely used in treating patients with Phenylketonuria over a decade. Recent studies reveal that patients treated with BH4 over one-year period showed reduced levels of serum B12, folate and iron intake and therefore patients under chronic BH4 treatment needed to be advised to have additional micronutrients along with BH4. Macrocephaly was used as one of the important features to diagnose Canavan disease. However, a recent study showing a child with aspartoacylase gene mutation developed microcephaly. Hence, Canavan disease phenotype can be either macrocephaly or microcephaly. These are a few examples of recent developments on metabolic diseases research. Therefore, this book was aimed to compose current developments on metabolic diseases research for the use by broad spectrum of experts including Physicians, Neuroscientists, Neurologists, Biomedical researchers, Biochemists, Molecular biologists, Basic Science Researchers and Medical Students.

This timely and clinically oriented book uniquely addresses the entire spectrum of treatment for severe obesity and diabetes. It thoroughly examines all aspects from robotic surgery to cell therapy, from the latest antidiabetic drugs to endoscopic procedures and devices, from appetite-inhibiting signals and nutrients to gastric arterial embolization. It offers objective and authoritative information for practicing professionals; not only are successful interventions discussed and updated, but cutting-edge and experimental pathways are also anticipated. Obesity is the foremost nutritional challenge worldwide. Its companion is type-2 diabetes, the most prevalent metabolic disease. Together they represent the diabesity epidemic, which is draining resources, overwhelming healthcare facilities, and impacting life expectancy and quality of life everywhere. No country has been spared, and most medical specialties have been affected. Many books focus on the surgical options for obesity and diabetes, namely bariatric and metabolic operations. Information on the clinical and pharmacological treatment is also available, conveyed by standard texts on internal medicine and endocrinology. Yet endoscopic maneuvers and prostheses, cell therapy for diabetes, and other innovative approaches are hard to come by, as conventional texts overlook such therapies. This timely publication bridges the gaps between all different therapeutic options, also covering advances in the conservative, surgical and parasurgical domains. This book will appeal to seasoned specialists, students and healthcare professionals in training alike.

Recent research, which Bone- Metabolic Function and Modulators expands on, has added new support to the idea that bone not only serves as a support system, but also functions as an integrating organ, with a significant regulatory role for lipid and energy metabolism. Links between physical activity and the skeleton are also becoming increasingly clear. This fully illustrated volume contains up-to-date information on the metabolic role of the skeleton and what this can mean for the treatment of metabolic as well as skeletal and auditory diseases. Bone- Metabolic Function and Modulators is of particular interest to clinician scientists, clinical and basic bone researchers, orthopedists, endocrinologists, internists, dentists, nurse practitioners, medical and dental residents and physiotherapists as well as students of the musculoskeletal system. Bone- Metabolic Function and Modulators is the seventh volume in the series Topics in Bone Biology, edited by Felix Bronner and Mary C. Farach-Carson. Other titles in this series:- Bone Formation Bone Resorption Engineering of Functional Skeletal Tissues Bone and Osteoarthritis Bone and Cancer Bone and Development Bone- Metabolic Function and Modulators is of particular interest to clinician scientists, clinical and basic bone researchers, orthopedists, endocrinologists, internists, dentists, nurse practitioners, medical and dental residents and physiotherapists as well as students of the musculoskeletal system. Bone- Metabolic Function and Modulators is the seventh volume in the series Topics in Bone Biology, edited by Felix Bronner and Mary C. Farach-Carson. Other titles in this series:- Bone Formation Bone Resorption Engineering of Functional Skeletal Tissues Bone and Osteoarthritis Bone and Cancer Bone and Development Bone- Metabolic Function and Modulators is of particular interest to clinician scientists, clinical and basic bone researchers, orthopedists, endocrinologists, internists, dentists, nurse practitioners, medical and dental residents and physiotherapists as well as students of the musculoskeletal system. Bone- Metabolic Function and Modulators is the seventh volume in the series Topics in Bone Biology, edited by Felix Bronner and Mary C. Farach-Carson. Other titles in this series:- Bone Formation Bone Resorption Engineering of Functional Skeletal Tissues Bone and Osteoarthritis Bone and Cancer Bone and Development

Because of the wealth of new information generated by the scientific community during the last decade on the role of nutrition on cancer risk, this book provides a forum for presentation and discussion of recent scientific data and highlights a set of dietary recommendations. Bioactive Compounds and Cancer presents chapters that highlight laboratory and clinical findings on how selected nutrients function as signaling molecules and, as such, influence cellular behavior and cancer predisposition. This important compendium focuses on understanding the role of nutrition in cancer biology, the molecular action of bioactive food components and xenobiotics on cancer risk, the role of dietary components in cancer prevention and/or treatment, and nutrition education with the most up to date dietary recommendations that may reduce cancer risk. This volume will be of interest to specialized health professionals, clinicians, nurses, basic and clinical researchers, graduate students, and health officials of public and private organizations.

The Nutrition and Health series of books have had great success because each volume has the consistent overriding mission of providing health professionals with texts that are essential because each includes (1) a synthesis of the state of the science, (2) timely, in-depth reviews by the leading researchers in their respective ?elds, (3) extensive, up-to-date fully annotated ref- ence lists, (4) a detailed index, (5) relevant tables and ?gures, (6) identi?cation of paradigm shifts and the consequences, (7) virtually no overlap of information between chapters, but targeted, inter-chapter referrals, (8) suggestions of areas for future research, and (9) balanced, data-driven answers to patient as well as health professionals questions which are based upon the totality of evidence rather than the ?ndings of any single study. The series volumes are not the outcome of a symposium. Rather, each editor has the potential to examine a chosen area with a broad perspective, both in subject matter and in the choice of chapter authors. The editor(s), whose training(s) is (are) both research and practice oriented, has(ve) the opportunity to develop a primary objective for their book, de?ne the scope and focus, and then invite the leading authorities to be part of their initiative. The authors are encouraged to provide an overview of the ?eld, discuss their own research, and relate the research ?ndings to potential human health consequences.

This book brings a comprehensive treatise about obesity, examining the measures that can be taken to stop and even reduce obesity if these right measures are taken in time. Recent studies show that obesity is on the increase at an alarming rate, especially in the industrialized and affluent countries. A number of reasons have been put forward for this increase, including life style choices, over-eating, over-use of commercially processed food, addiction for fast food, high caloric diet specially containing high levels of sugar and fat, lack of exercise and sedentary life style. Also genetic make up has been associated with obesity. Obesity can lead to a variety of lethal diseases, notably coronary heart disease, cancer and diabetes. These diseases account for the highest number of human death amongst all other causes. There are also a number of other side effects associated with obesity including increased stress, loss of intelligentsia, pancreatitis, premature birth and osteoarthritis. In recent years media have been playing important roles in highlighting the lethality and damage caused by obesity, nevertheless no significant effects can be seen in the population and obesity remains on the increase, especially amongst children. The editors believe that it is important that more education, campaign and research are used to stop this increasing disease.

The dynamics of body metabolism are changed in the disease process and interact with physical activity. The alteration of metabolism and its consequences raise the need for simple and reliable methods for assessment of body composition. The chapters aim to investigate various interacting components converging on metabolic changes in lung and muscle tissues taking into consideration the drug effects. The effects of exercise and nutritional status are dealt with at a great extent.

This book focuses on the state of the art in fully grasping precocious puberty and its consequences, incorporating advances in the areas of endocrinology, genetics, imaging and therapeutics to offer an indispensable tool for all physicians interested in the latest advances in this field. The authors present the latest findings on early puberty in girls and boys. The dynamic process of maturation is influenced by many signals and reshapes growing children's role within their environment. Readers will benefit from the educational value and level of depth of the individual chapters; written by respected experts and in a self-contained format, they can also be read separately to address specific interests.

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.

This book provides an introduction to the principles of both cardiovascular epidemiology and molecular pathophysiology; as a unique aspect, it also outlines and discusses the molecular concepts underlying epidemiological observations. This first volume is focused on the genetic and molecular basis of pathogenesis and the role of environmental factors triggering cardiovascular dysfunctions. The book promotes the use of interdisciplinary approaches in the field of preventive medicine based on recent advances in molecular and cellular pathophysiology. The book offers a valuable resource for researchers in basic biomedical fields and clinical scientists alike, as well as guidelines for novel avenues of research in both basic pathophysiology and cardiovascular therapy and prevention.

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.

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.

Developed via a peer review process that included 25 experienced endocrinologists and utilizing the best current evidence, The Cleveland Clinic has created a practical set of protocols for over 25 commonly used dynamic endocrine tests. The cornerstone of clinical endocrinology, these evidence-based protocols play an important role in clinical decision-making and are important element of billing and compliance with high quality standards. Included here are various tests for pituitary and adrenal disorders, thyroid disorders, and glucose metabolism and pancreatic disorders, presented systematically with indications, preparation, materials needed, precautions, procedure, interpretation, and caveats. Filling the gap left by a lack of national guidelines, The Cleveland Clinic Manual of Dynamic Endocrine Testing is an up-to-date practical guide for endocrinologists, nurses, and their staff, inside or outside of the US, who need to perform and interpret dynamic endocrine testing in their everyday practice, as well as medical students, residents and fellows who have interest in endocrinology.

This timely, concise title provides an important update on clinical lipid management. Using information from recent clinical trials and in special populations, the book begins by offering an easy-to-read overview of LDL, HDL, and triglyceride metabolism and the genetics of lipid disorders. The link between inflammation and lipids, and how this relates to atherosclerosis development, is also addressed, as are the measures of subclinical atherosclerosis in patients with abnormal lipid levels. Lipid abnormalities in children, with a particular focus on vulnerable populations (with an emphasis on ethnicity and childhood obesity), are covered. The treatment goals and approaches for managing lipids in the clinic are thoroughly discussed, emphasizing the important role of statin use and addressing controversies of lipid management in special populations such as heart failure, end stage kidney disease and fatty liver disease. Of special note, an important update on how new HIV medications impact lipid levels is provided. In all, Lipid Management: From Basics to Clinic, is an invaluable, handy resource for understanding changes in lipids in different populations and for sharpening the clinical approach to managing complicated lipid cases.

"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."

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

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.

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.

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.