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 world is beset by a pandemic of obesity and type 2 diabetes and the need for new drugs is startlingly clear; recent years have seen a huge increase in research activity to fill this gap. The development of new drugs for diabetes and obesity must be founded upon a sound appreciation of the pathophysiology of these common disorders. The dual defects of insulin resistance and impaired insulin secretion are fundamental to the pathogenesis and progression of obesity-associated type 2 diabetes. There is a need to explain how new drugs can counter insulin resistance and insulin deficiency to a broad range of professionals, from clinical scientists active in early (and later) phase drug development to specialist physicians and increasingly primary care doctors who must tailor drug regimens to the individual patient. Clinical research methods for measuring insulin action and insulin secretion have become well-established in proof-of-mechanism studies; however, selection of the best techniques is by no means straightforward. The purpose of the book is to aid the selection of the most appropriate techniques for assessing insulin action, insulin secretion and body composition in humans (with particular reference to new drugs) in phase 1 and 2 studies and aid the understanding of drug effects and non-drug treatment strategies on key biochemical-hormonal defects of obesity and type 2 diabetes. The book will assume a working knowledge of human physiology relating to glucose metabolism and will be of interest to biomedical scientists, pharmacologists, academics involved in metabolic research and clinicians practicing in these specialties.

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.

That a relation exists between lipids/lipoproteins and coronary artery disease is no longer an arguable point. However, the complexities associated with this relationship, and the number of factors that can impact and alter circumstances and clinical status, are many and diverse. Consequently, this relationship continues to receive a great deal of focus from researchers. Lipid Metabolism and Health, in presenting the latest statement from those positioned on the cutting edge in this arena, provides an overview and historical perspective of the evolution of serum lipids and lipoproteins. It traces their development from a mere curiosity to their acceptance as an established and major coronary artery disease (CAD) risk factor, and, ultimately, to their becoming the subject of clinical guidelines. Considerable attention is focused on the fundamentals, beginning with a chapter on basic lipidology, and progresses through such topics as lipid/lipoprotein metabolism, and the biology of atherosclerosis. Additional topics include methodologies for measuring lipoproteins, clinical strategies used to manage unhealthy lipid levels, and discussion of important influential factors such as obesity, diabetes and metabolic syndrome, diet/nutrition, exercise, cigarette smoking and environmental tobacco smoke, and age, as well as gender, race, and other heredity factors. Qualified and recognized experts in their specific fields of study were recruited by the editors to contribute chapters. They include top researchers in, nutrition, pharmacology, exercise science, and several areas of clinical medicine including cardiology, kinesiology, and immunology. Lipid Metabolism and Health provides a useful scientific and educational tool for researchers, clinicians, academicians, and students seeking a timely and bona fide source of information on the relationship between lipids and health.

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 third volume is focused on the most common "cardiovascular events" to provide an overview on pathogenesis and clinical aspects. 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.

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 second volume is focused on all aspects concerning "secondary risk factors" in terms of diseases associated with enhanced risk for cardiovascular events. 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.

This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent "proof-of-principles" for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, "doctor-patient" collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.

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.

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.

A Yale-trained, board-certified family physician with a specialty in women's health and obstetrics delivers a proven 28-day program to heal the overwhelmed, overloaded systems, and prevent and reverse the myriad of symptoms affecting the vast majority of women today. Weight gain, fatigue, brain fog, hormonal imbalances, and autoimmune conditions-for years, health practitioners have commonly viewed each as individual health problems resulting from a patient's genetic bad luck, poor lifestyle choices, or lack of willpower. Patients, too, have turned to different doctors to alleviate their specific symptoms: an endocrinologist for a thyroid problem; a gynecologist for hormonal issues; an internist for weight, diabetes, and high blood pressure; a rheumatologist for joint problems, and even to therapists or psychologists. While these ailments may seem unrelated, Dr. Aviva Romm contends that they are intrinsically connected by what she calls Survival Overdrive Syndrome, a condition that occurs when the body becomes overloaded. SOS can result from childhood survival patterns or adult life stressors that are compounded by foods we eat, toxins in our environment, viral infections, lack of sleep, disrupted gut microflora, and even prescribed medications. Two of the systems most affected are the adrenal system and the thyroid, which control mood, hormones, inflammation, immunity, energy, weight, will power, blood sugar balance, cholesterol, sleep, and a host of other bodily functions. When these systems become overwhelmed they lead to symptoms that can develop into full blow illnesses, including diabetes, hypertension, osteoporosis, and heart disease-all of which have medically provable origins in SOS. The Adrenal Thyroid Revolution explains SOS, how it impacts our bodies and can lead to illness, and most importantly, offers a drug-free cure developed through Dr. Romm's research and clinical work with tens of thousands of patients. In as little as two weeks, you can lose excess weight, discover increased energy, improve sleep, and feel better. With The Adrenal Thyroid Revolution, you can rescue your metabolism, hormones, mind and mood-and achieve long-lasting health.

This book discusses the maximal power and capacity of the three major biochemical pathways ­- aerobic (oxygen consumption), anaerobic lactic (muscle lactate accumulation in absence of oxygen consumption), and anaerobic alactic (phosphocreatine hydrolysis) metabolism - as well as the factors that limit them. It also discusses the metabolic and cardio-pulmonary mechanisms of the dynamic response to exercise. The way and extent to which the power and capacity of the three major energy metabolisms are affected under a number of different conditions, such as training, hypoxia and microgravity, are also described.

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 comprises proceedings from the Third International Conference on Advances in Nutrition and Cancer, held in Naples in May 2012. This highly multidisciplinary meeting analyzed “nutrition and cancer” from different perspectives and on the basis of distinct and up-to-date experimental approaches. Knowledge on the relation between lifestyle, diet, and cancer is explored in a number of contributions, and the role of dietary intervention in cancer patients is discussed. Issues of vital interest to the research community, such as epidemiological and experimental oncology (genetics, epigenetics, and the mechanisms of action of natural compounds in the diet), receive detailed consideration. A further key topic is the emerging molecular technologies (the “omics”) that can cast light on the interplay between nutrition and human malignancies. Chapters take the form of reviews that include sections presenting expert opinions.

Twenty years after its discovery, recombinant human leptin has been approved by the Food and Drug Administration for the treatment of patients with lipodystrophy. Beginning with a synthesis of the vast body of work on its discovery, dissection of mechanisms, and effects in experimental models , the focus of this book shifts to a consideration of the regulation and role of leptin in humans. The emphasis on human-level data is a unique feature of this book. The results of numerous studies indicate that leptin is indeed a regulated human hormone. Leptin provides a detailed account of the myriad physiological, hormonal, metabolic, immunological, mitogenic and inflammatory modulators and targets of leptin in a single volume. Next follows a comprehensive presentation of the therapeutic trials of recombinant leptin in patients with congenital leptin deficiency, lipodystrophy, hypothalamic amenorrhea, and other emerging areas, including leptin supplementation in leptin-replete subjects, leptin substitution for insulin in diabetic models, and novel combination regimens of leptin and other biogenic peptides. Unanswered questions and future directions in leptin research are highlighted in the Foreword by Dr. Jeffrey Friedman and throughout the volume. Identifying such questions helps direct research that could deepen understanding of the complex regulation of leptin under physiological and pathological conditions, a critical prerequisite to its rational deployment in the treatment of human disorders.

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.

Enzymes are the astonishing, tiny molecular machines that make life possible. Each one of these small proteins speeds up a single chemical reaction inside a living organism many millionfold. Working together, teams of enzymes carry out all the processes that collectively we recognise as life, from making DNA to digesting food. This Very Short Introduction explains the why and the how of speeding up these reactions - catalysis - before going on to reveal how we have evolved these catalysts of such extraordinary power and exquisite selectivity. Paul Engel shows how X-ray crystallography has revealed the complex molecular shapes that allow enzymes to function at an extraordinarily sophisticated level. He also examines medical aspects of enzymes, both in the way faulty enzymes cause disease and in the way enzymes can be used for diagnosis and therapy. Finally, he looks at the many varied ways in which individual enzymes, taken out of their biological context, are used nowadays as tools - in washing powders, food production, waste treatment, and chemical synthesis. ABOUT THE SERIES: The Very Short Introductions series from Oxford University Press contains hundreds of titles in almost every subject area. These pocket-sized books are the perfect way to get ahead in a new subject quickly. Our expert authors combine facts, analysis, perspective, new ideas, and enthusiasm to make interesting and challenging topics highly readable.

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.

Exposure to ambient air pollutants, both indoors and outdoors has been associated with the exacerbation and also in the etiology of diverse human diseases. This book offers an overview of our current understanding of air pollution health risks and how this knowledge is being used in the regulatory, therapeutic intervention measures to protect the public health and reduce the disease burden caused by acute and long-term exposure to air pollutants. Air Pollution and Health Effects provides readers with a comprehensive understanding of air pollution health risks, morbidity and the global disease burden, whilst also delivering critical review on state of the art research so as to gain a fundamental understanding of the biological mechanisms involved in the etiology of air pollution-induced diseases. Chapters range from pregnancy outcomes and pre-term birth, carcinogens in the ambient aerosol and the health consequences of indoor biomass burning. Special emphasis is placed on regional and local air pollution and its impact on global health along with suitable preventive and interventional measures. With contributions from international experts in the field this volume is a valuable guide for researchers and clinicians in toxicology, medicine and public health as well as industry and government regulatory scientists involved in health protection.

This book is intended to provide up-to-date and emerging information in the field of diabetes mellitus with a focus on preventive, predictive and personalized medicine.

This book contains an extensive collection of critical reviews, from leading researchers in the field of regulated protein degradation. It covers the role of regulated proteolysis in a range of microorganisms (from Gram positive, Gram negative and pathogenic bacteria to Archaea and the Baker's yeast Saccharomyces cerevisiae).

It is a pleasure to introduce this new book, Clinical and Pathological Aspects of Skin Diseases in Endocrine, Metabolic, Nutritional, and Deposition Disease, edited by two of my friends and respected colleagues, Franco Rongioletti and Bruce R. Smoller. In fact, I was very ent- siastic when I learned that they were preparing this work. Although endocrine, metabolic, w, and deposition diseases are regularly included in general textbooks of dermatology and d- matopathology, one gains the general impression that these topics receive little emphasis and are mainly included for completeness. The prospect of having all of this information in one volume, lovingly described and detailed by experts in the feld, should be of great interest not only to dermatologists, pathologists, and dermatopathologists but also to internists and en- crinologists, who may well gain a different perspective on these disorders. As a derma- pathologist, I am also pleased that this project has been organized and undertaken by two distinguished authorities in cutaneous pathology. This assures a close integration of histo- thology and other laboratory techniques with the clinical aspects of these disorders, which will make it possible - perhaps for the frst time - to view these conditions in a truly comprehensive way. So I invite you, the reader, to open this volume and dig in; be prepared for an eye-catching, intellectually stimulating, and ultimately rewarding experience! Charlottesville, VA James W. Patterson v w Foreword II Dermatopathology is a bridge between Dermatology and Pathology.