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.

Somatic growth is a crucial component in the development of an organism. Growth is manifested in many levels during an organisms lifespan; rapid intrauterine growth is followed by extrauterine development that subsides with age. The control of growth is exerted via particularly complex and multifaceted mechanisms that affect every cell of the body, regulating the balance between the anabolic and catabolic processes, and it is intimately entwined with almost every physiological function. The central component of this regulatory system is the hypothalamo-hypophyseal axis that controls not only all of the endocrine organs of the body, but also regulates the growth of every cell via growth hormone (GH) release. It would certainly exceed the scope of the present book to summarize the growth-related complex peripheral actions of the various hormonal systems of the hypothalamo-hypophyseal axis. GH secretion is modulated primarily by the somatotropic axis, which is one of the functional components of the hypothalamo-hypophyseal axis and integrates the stimulatory and inhibitory actions of growth hormone-releasing hormone (GHRH) and somatostatin upon GH release, respectively. Therefore, in the present volume we attempt to give an overview of the regulatory components of a somatotropic axis with a special emphasis on the regulatory input provided by hypothalamic hormonal and neurotransmitter/neuromodulator systems. Since it is particularly complicated to extrapolate animal data to human physiology, the authors focus on human results while animal studies are detailed only if they provide a better understanding to how growth is regulated in humans. This process has proven to be difficult due to the scarcity of human studies in this field.

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 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.

The role of vitamin A in living organisms has been known throughout human history. In the last 100 years, the biochemical nature of vitamin A and its active derivative, retinoic acid, its physiological impact on growth processes, and the essential details of its mechanism of action have been revealed by investigations carried out by researchers using vertebrate and more recently invertebrate models to study a multiplicity of processes and conditions, encompassing embryogenesis, postnatal development to old age. A wealth of intercellular interactions, intracellular signaling systems, and molecular mechanisms have been described and the overall conclusion is that retinoic acid is essential for life. This book series, with chapters authored by experts in every aspect of this complex field, unifies the knowledge base and mechanisms currently known in detailed, engaging, well-illustrated, focused chapters that synthesize information for each specific area. In view of the recent information explosion in this field, it is timely to publish a contemporary, comprehensive, book series recapitulating the most exciting developments in the field and covering fundamental research in molecular mechanisms of vitamin A action, its role in physiology, development, and continued well-being, and the potential of vitamin A derivatives and synthetic mimetics to serve as therapeutic treatments for cancers and other debilitating human diseases. Volume II is divided into nine chapters contributed by prominent experts in their respective fields. Each chapter starts with the history of the area of research. Then, the key findings that contributed to development of the field are described, followed by a detailed look at key findings and progress that are being made in current, ongoing research. Each chapter is concluded with a discussion of the relevance of the research and a perspective on missing pieces and lingering gaps that the author recommends will be important in defining future directions in vitamin A research.

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 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.

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.

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 discusses the relationship between cellular immunity and tryptophan metabolism, as well as its products, serotonin and melatonin, in the development of several diseases and reappraises the common signal transduction pathways of the neurodegenerative diseases, carcinogenesis, immune tolerance, inflammation, hypersensitivity reactions, neuropsychiatric disorders, in addition to bacterial tryptophan biosynthesis and novel antimicrobials. Tryptophan Metabolism: Implications for Biological Processes, Health and Disease presents fundamental information on tryptophan related metabolic pathways and metabolites, implications of these products for specific biological processes, diseases and conditions. This book focuses on effects of tryptophan metabolites on human health and will appeal to researchers, clinicians and students within this field.

This textbook presents concise chapters written by internationally respected experts on various important aspects of cancer-associated metabolism, offering a comprehensive overview of the central features of this exciting research field. The discovery that tumor cells display characteristic alterations of metabolic pathways has significantly changed our understanding of cancer: while the first description of tumor-specific changes in cellular energetics was published more than 90 years ago, the causal significance of this observation for the pathogenesis of cancer was only discovered in the post-genome era. The first 10 years of the twenty-first century were characterized by rapid advances in our grasp of the functional role of cancer-specific metabolism as well as the underlying molecular pathways. Various unanticipated interrelations between metabolic alterations and cancer-driving pathways were identified and currently await translation into diagnostic and therapeutic applications. Yet the speed, quantity, and complexity of these new discoveries make it difficult for researchers to keep up to date with the latest developments, an issue this book helps to remedy.

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.

The sustained skin research efforts over the past decades has led to the accumulation of a significant collection of information on skin structure and physiology as well as on the pathogenesis of cutaneous diseases. In Molecular Dermatology: Methods and Protocols, leading experts in the field provide a collection of state-of-the-art reliable protocols covering a wide spectrum of techniques and experimental models, specific molecular assays and disease models, as well as overviews of diagnostic and research areas relevant to molecular dermatology. As a volume in the highly successful Methods in Molecular Biology (TM) series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and authoritative, Molecular Dermatology: Methods and Protocols emphasizes the vital importance of skin research and collects the methodologies necessary to aid scientists in moving forward in this valuable field.

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.

In theoretical terms, sex differences in brains and behaviors of laboratory animals offer the possibility of fascinating scientific studies on a range of molecular phenomena such as genomic imprinting, DNA methylation, chromatin protein modification, non-coding DNA, potentially resulting in important neuroanatomical and neurochemical sex differences in the brain. Such sex differences could arise consequent to exposures to testosterone early in development, or to other effects deriving from the Y chromosome. However, this general subject has been treated with much hyperbole. Historically, sex differences were assumed to be present where they did not really exist, e.g. with respect to mathematics, executive leadership, etc. etc. Under what circumstances do we really care about sex differences in brain and behavior? These circumstances concern human maladies whose diagnoses are much different between boys and girls, or between women and men. Prominent examples discussed in this volume include autism, attention deficit hyperactivity disorders and congenital adrenal hyperplasia. In fact, infant boys are more susceptible than infant girls to a variety of disorders that arise early in development. This volume then ends with a consideration of effects of estrogenic hormones on the injured brain, and their roles as protective agents.

T. Hara, I. Kimura, D. Inoue, A. Ichimura, and A. Hirasawa: Free fatty acid receptors and their role in regulation of energy metabolism. B. Nilius and G. Appendino. Spices: the savory and healthy science of pungency.

This volume is comprised of 18 chapters, covering various aspects of DNA modification and RNA modified bases. It also discusses in detail circular RNA, therapeutic oligonucleotides and their different properties. The chemical nature of DNA, RNA, protein and lipids makes these macromolecules easily modifiable, but they are also susceptible to damage from both endogenous and exogenous agents. Alkylation and oxidation show a potential to disrupt the cellular redox equilibrium and cause cellular damage leading to inflammation and even chronic disease. Furthermore, DNA damage can drive mutagenesis and the resulting DNA sequence changes can induce carcinogenesis and cancer progression. Modified nucleosides can occur as a result of oxidative DNA damage and RNA turnover, and are used as markers for various diseases. To function properly some RNA needs to be chemically modified post-transcriptionally. Dysregulation of the RNA-modification pattern or of the levels of the enzymes that catalyze these modifications alters RNA functionality and can result in complex phenotypes, likely due to defects in protein translation. While modifications are best characterized in noncoding ribonucleic acids like tRNA and rRNA, coding mRNAs have also been found to contain modified nucleosides. This book is a valuable resource, not only for graduate students but also researchers in the fields of molecular medicine and molecular biology.

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.