This book is an an up-to-date survey and summary of present knowledge and future expectations regarding the environmental causes of congenital malformations in human beings, beginning with the earliest discoveries of the 20th century up to the latest ideas and problems at its end, presents views and comments on the progress made over the century in understanding human prenatal maldevelopment.

Approximately eight to twelve million individuals in the United States are affected by peripheral arterial disease (PAD). Thus this disease is common and well represented in nearly all adult medical practices. Peripheral arterial diseases include diverse clinical entities that encompass atherosclerotic, aneurysmal, vasospastic, and inflammatory disorders that affect the arteries. The Peripheral Arterial Disease Handbook presents a unique compendium of evidenced-based and expert approaches for the diagnosis and treatment of peripheral arterial diseases, written for all practitioners who care for adults with these disorders. This comprehensive, easy-to-use book presents both epidemiological and pathophysiological data in succinct form, along with a practical clinical review of the diagnosis and treatment of the most important areas of peripheral arterial disease care.

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disorder that causes blood vessel abnormalities in the nose, skin, gastrointestinal tract, lungs, brain, and liver. Nosebleeds are the most common symptom of HHT, but abnormal vessels in other organs, if they are not diagnosed and treated, can lead to serious medical complications, including stroke, hemorrhage, anemia, and brain abscess. Psychologist Sara Palmer, who has HHT herself and is an expert in helping people cope with health conditions, draws on current research as she thoroughly describes the symptoms of HHT, explains how the diagnosis is made (and often missed), and details treatment options. While addressing the medical aspects of HHT, Palmer also reveals how people affected by the disorder can maintain their emotional health, take care of family members, and live life as fully as possible. Enriched with illustrations, personal stories of people living with HHT, a glossary, and contact information for the HHT Centers of Excellence (which provide coordinated medical treatment for people with the disorder), Living with HHT is a complete resource for individuals with HHT and their families. This guide is also essential for health professionals seeking more information about this underdiagnosed disease.

This volume begins with a summary of the classical genetic studies and molecular genetic studies of the most common diseases, and indicates what makes them amenable to analysis and treatment. A range of possible future therapeutic options are discussed, from conventional drug targets through to gene therapy. The final chapters assess the value of diagnosis and prediction of the inheritance of various diseases.

There is growing acknowledgement of the importance of interpersonal and communication skills in the training of future physicians. Effective diagnostic and clinical management skills require competency in observing, listening, communicating, problem-solving and negotiating. In addition, the physician needs human relationship skills. It is apparent that a systematic curriculum is needed to teach these clinical skills to medical students and trainees and this handbook provides a practical guide. Each chapter in this book discusses one of the clinical skills in depth. A unique feature of this book is the use of concepts developed in several other disciplines. For example, ideas to learn listening skills are borrowed from industrial management literature. The other unique feature is the inclusion of practical exercises to learn and teach each of these skills. The Appendix outlines ideas on how to organize a course on clinical competency skills and includes a few exercises to start discussion groups. This practical manual is a resource for training of future physicians for competency in the art and practice of medicine. Ideas expressed in this book have been developed, tested and improved over a period of 25 to 30 years with input from trainees and medical practitioners.

This is a complete, medically reliable dictionary of congenital malformations and disorders. As the authors explain, "Down syndrome is the only common congenital disorder; the other defects and disorders are rare or very rare, some having been reported fewer than 20 times worldwide." This dictionary covers them all. Examples: Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. Acrocallosal syndrome is characterized by total or partial absence of the corpus callosum, craniofacial dysmorphism, polydactyly, and severe mental retardation. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits. Acrodysostosis is characterized by prenatal growth deficiency, brachycephaly, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation.

This book addresses the impact of genetic deafness/hearing impairment on people' s lives and those around them. It includes the perspectives of those who are deaf or hard of hearing as well as those working in the field. Professional topics include genetic counselling, social science, psychology, social work and - within medicine - audiological and ENT medical and audiological paediatrics. These practitioners are both hearing and hearing impaired.

The impact of deafness on children, those of working age and elderly people is discussed highlighting the specific effect of genetic factors. In particular there are chapters on deafblindness and otosclerosis and NF2 (a potentially lethal condition). The Who definitions and ICF are used as a framework for considering the effect on people' s lives of impairment and their participation in society.

This provides a bridge between the medical and social models of disability. Contributors write from both their professional and personal experience in order to try and address some of the issues raised by the real impact of genetic deafness on everyday life and how these can best be tackled by those working in the field.

This volume offers therapists effective, practical strategies for helping patients overcome the psychological impact of a history of serious illness in the family. Using illustrative case material, the author discusses the feelings of powerlessness that family illness can produce in an individual, and describes techniques for fostering a healthier, more empowered attitude. She shows how various assessment exercises and validation techniques can help the person distinguish between reality and the myths that evolved as a result of the family illness.

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"Packed with information that is useful on a daily basis. This book will be useful for all who care for children with disabilities or chronic disase." -Journal of Parental and Enteral Nutrition Food and nutrition studies are more relevant to the practice of medicine than ever before. As scientific understanding of these links has expanded over the last decade, the need for an authoritative reference has never been greater. This fully revised and updated edition of PEDIATRIC AND ADULT NUTRITION IN CHRONIC DISEASES, DEVELOPMENTAL DISABILITIES, AND HEREDITARY METABOLIC DISORDERS offers a comprehensive reference to the nutritional interventions for diseases across the lifespan. Comprising more than 60 topic-based chapters from leading figures in nutrition and medicine, this book is the most up-to-date work on diet as a symptom of, and therapy for, chronic, hereditary, and developmental disorders. Enriched with tables and charts that distill the latest recommendations for nutrient intake, physical activity, this third edition is a convenient and essential resource for busy clinicians and students in nutrition, dietetics, and medical specialties.

Noonan Syndrome: Characteristics and Interventions provides an in-depth analysis on this disorder that pediatric endocrinologists and primary care clinicians can use to make sure they provide affected patients with an updated model of care and appropriate treatment. The book examines recent advances in understanding and treating short stature in Noonan Syndrome, along with the latest progress in growth hormone-dependent signaling pathways involved in short stature, one of the most frequent clinical manifestations. Chapters also address how patients with Noonan Syndrome undergo more than average surgical procedures and have a great bleeding risk. This must have reference for pediatric endocrinologists and practicing physicians will give them all the information they need on the topic.

The clinical benefits of hormone replacement therapy in women have to be carefully balanced against the possible risks, and a particular theoretical concern relates to risks associated with various forms of female oncology. Because of conflicting reports, gynecologists and oncologists especially need a single, authoritative resource of up-to-date information. Hormone Replacement Therapy and Cancer, published in association with the International Menopause Society, provides the very consensus statement that clinicians need in this difficult and complex area.

Many of the world's leading specialists have contributed important chapters that provide state-of-the-art knowledge about the effects of hormones on women and possible cancer risks. The introductory section deals with carcinogenesis, and the other main sections cover HRT and breast cancer, endometrial cancer, colon cancer, melanoma and epithelial ovarian cancer. The concluding chapters discuss the benefits and risks of specific therapies. An authoritative clinical reference with extensive bibliographic references and index, Hormone Replacement Therapy and Cancer covers all aspects of HRT and cancer based on the research available up to June 2001.

This thoroughly revised and updated reference addresses the drugs and chemicals causing malformations and congenital anomalies in the human fetus-comprehensively reviewing experimental studies in animals and clinical data on human development, primarily in the organogenesis period. Addressing current public health concerns over teratogens, Chemically Induced Birth Defects, Third Edition covers and condenses the 2500 new publications on developmental toxicology that appear every year. Provides comprehensive identification of teratogens by chemical, generic, and trade names. Chemically Induced Birth Defects, Third Edition -discusses the interrelation of over 4100 chemicals in current use, still in the experimental stage, or now obsolete -covers recently available drugs, such as misoprostol and fluconazole -utilizes the latest Good Laboratory Practices-conducted studies to evaluate specific agents -investigates up-to-the-minute impairments of maternal homeostasis that may lead to teratogenesis -surveys chemicals by use, distinguishing medicinals from industrial chemicals -elucidates recent research on chemicals linked to endocrine disruption -and more! Containing over 10,000 citations from the literature, Chemically Induced Birth Defects, Third Edition deserves a place on the bookshelves of all toxicologists, teratologists, pediatricians, obstetricians, gynecologists, environmentalists, biochemists, oncologists, pharmacologists, endocrinologists, and upper-level undergraduate, graduate, and medical school students in these disciplines.

Sickle cell disease (SCD) is a severe chronic illness and one of the world's most common genetic conditions, with 400,000 children born annually with the disorder, mainly in Sub-Saharan Africa, India, Brazil, the Middle East and in diasporic African populations in North America and Europe. Biomedical treatments for SCD are increasingly available to the world's affluent populations, while such medical care is available only in attenuated forms in Africa, India and to socio-economically disadvantaged groups in North America and Europe. Often a condition rendered invisible in policy terms because of its problematic association with politically marginalized groups, the social study of sickle cell has been neglected. This illuminating volume explores the challenges and possibilities for developing a social view of sickle cell, and for improving the quality of lives of those living with SCD. Tackling the controversial role of screening and genetics in SCD, the book offers a brief thematic history of approaches to the condition, queries the role of ethnicity and includes a discussion of how the social model of disability can be applied, as well as featuring chapters focusing on athletics, prisons and schools. Bringing together a wide range of original research conducted in the USA, the UK, Ghana and Nigeria, Sickle Cell and the Social Sciences is anchored in the discipline of sociology, but draws upon a diverse range of fields, including public health, anthropology, social policy and disability studies.

This volume contains the text of the presentations delivered at the International Symposium on Rare Diseases "Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies," held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on dif- sion of science to the society of the Catedra Santiago Grisolia and the Fundacion Ciudad de las Artes y las Ciencias -Comunitat Valenciana. More than 200 inter- tional scientists from different countries of Europe, the USA, and Australia attended the meeting. The venue was the Auditorium of the Science Museum Principe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: "It has been estimated that more than one person in every 3,000 has a serious disabling inherited n- romuscular disorder. The suffering caused by these disorders is considerable, but, until the last decade or so, virtually nothing was known of their pathogenesis. Any rationale approach to treatment was therefore out of the question. However, matters are now changing rapidly. The genes for many of these disorders have been localised and characterised and their gene products identi ed and studied. The detection of preclinical disease, the identi cation of heterozygous carriers and prenatal di- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant."

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.

More than 350,000 individuals in the United States alone are affected by Down syndrome, a genetic disorder related to the presence of an extra copy of chromosome 21. Down Syndrome: Visions for the 21st Century is designed to provide a comprehensive and up-to-date treatment of the current issues of self-determination, education, and advocacy, as well as the most recent research developments.

Providing a comprehensive survey of the clinical, educational, developmental, psychosocial, and transitional issues relevant to people with Down syndrome, the book is structured to meet the needs of parents and professionals alike. The controversial topics of alternative and nonconventional therapies are included alongside the best practices of top experts in the fields of family support, supported living, and life in the community. Down Syndrome incorporates the newest developments concerning issues of sexuality, inclusion, transition into adulthood, and legislation and features a discussion of the implications of the Human Genome Project and the sequencing of chromosome 21. The book comprises ten chapters covering:

• Self-Determination
• Self-Advocacy
• Advocacy
• Role of the Family
• Health and Clinical Care
• Research
• Psychosocial Issues
• Education/Inclusion
• Communication, Math, and Language Skills
• Turning the Vision into Reality

Down Syndrome: Visions for the 21st Century assumes the stated mission of the National Down Syndrome Society: to ensure that all individuals with Down syndrome are provided the opportunity to achieve their potential in community life. Parents, family members, individuals with Down syndrome, advocates, educators, and physicians will benefit from this peerless guide.

This book brings together many of the main conclusions of the European Concerted Action Programme on Genetic Hearing Impairment (HEAR). It is spilt into four sections, covering definitions, protocols, genotype/phenotype relationships and important websites.The section on definitions enables all those approaching the problems of Genetic Hearing Impairment from different backgrounds to communicate in the same language and understand what each is doing more clearly. The definitions are of Audiological, Vestibulogical, Epidemiological and Genetic terms, together with specific terms associated with particular craniofacial abnormalities.

The second section comprises protocols for the minimal set investigation of patients and their family members with genetic hearing impairment. Relatively little work has been done in the past on the balance of disorders which may be associated with Genetic Hearing Impairment and a protocol aiming to elucidate some of these factors in a relevant way has been defined. The final chapter in this section deals with how audiologists should relate to genetic laboratories in an attempt to reduce the confusion which has risen in this field in the past.

The third section is concerned with the relationship between genotypes and phenotypes in non-syndromal hearing impairment in the conditions in which the genes have so far been localised and in many cases identified.

The final section deals with the important websites within this field. The most important and the most visited is the Hereditary Hearing Loss website based on Antwerp and managed by Guy Van Camp and Richard Smith.

This text contains a collection of papers presented at the 6th World Congress on Down's Syndrome, held in Madrid in October 1997. The papers focus on the scientific advances and therapeutic practices that make it possible for people with Down's syndrome to enjoy good health, to be recognized socially, to go to mainstream school, to have a job, to integrate in their community and to enjoy a better quality of life.

The papers aim to reflect the dynamism of the Down's syndrome community at national and international levels, and the questions and solutions envisaged in many parts of the world. They also highlight the challenges for future concern. The most important and urgent challenges discussed are: increased recognition of the syndromic specificity of Down's syndrome; better knowledge of the genetic mechanisms inducing Down's syndrome and of the individual variation at the genetic and epigenetic level (particularly brain development); more precise characterization of psychological, educational and social development in Down's syndrome individuals; continued improvement of medical care for the whole life cycle of Down's syndrome individuals; better and specialized school techniques and approaches for tracking literacy and computational skills in Down's syndrome children and adolescents; more effective ways of integrating Down syndrome individuals into society and making them feel and be fully-fledged members of our social structures; and adequate medical, psychological, and social care of ageing Down's syndrome persons

The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.

Congenital Heart Defects, or CHDs, are the most frequently occurring birth defect. In the US alone, over 25,000 babies are born each year with some form of CHD. In the last 20 years, medical advances and new surgical procedures have dramatically decreased the mortality rate of these abnormalities and led to a better understanding and treatment of CHDs in adults. This definitive work on the subject covers all aspects of CHD, under the editorship of a leading geneticist, cardiologist, and public health physician, and features contributions from 60 major authorities in the field. Coverage includes a broad range of topics on the development, epidemiology, genetics, diagnosis, management, prevention, and public health issues of CHDs. This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals with CHDs.

"Advances in Down Syndrome Research represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, transporters, superoxide dismutase, antioxidant system, chromosome assembly factor and other important biological structures are provided. And again, the gene dosage hypothesis is addressed and although the vast majority of chromosome 21 gene products is unchanged in fetal DS brain, a few specific chromosome 21 encoded structures including transcription factors are indeed overexpressed although findings in fetal DS are different from those in adult DS brain when Alzheimer-like neuropathology supervenes."

This book contains the contributions to the 30th Hemophilia Symposium, 1999. The main topics are HIV infection, inhibitors in hemophilia, modern treatment of hemophilia, drug-induced thrombophilia and pediatric hemostasiology. The volume is rounded off by numerous free papers and posters on hemophilia and associated topics.

This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.

The indispensable guide to all aspects of clinical care, the Oxford Handbook of Endocrinology and Diabetes has been fully updated for its fourth edition, providing comprehensive coverage of both disciplines in a practical and concise format. Featuring new chapters on transition in endocrinology and diabetes, practical nursing considerations, and the genetics of endocrinology, and expanded sections on inherited endocrine syndromes and MEN, it retains the clear organisation and layout for ease of reference as the previous edition over a broader range of topics. Combining authority, relevance, and reliability, this title includes new therapies and guidelines alongside 'clinical pearl' and 'tricky situation' boxes to aide readers in rare or complicated situations. This is the must-have guide for all trainees and specialist nurses in endocrinology and diabetes.

This study sets out to describe all aspects of a congenital anomaly which has been described as "the epitome of modern surgery" and "the raison d'etre of pediatric surgery". The book is presented in eight sections, commencing with a summary of the historical events of significance, followed by epidemiology and genetics, embryology, anatomy and pathophysiology. The clinical aspects commence with chapters dealing with diagnosis, transport, anaesthesia and intensive care. This is followed by a section which addresses the surgical aspects of the specific variants of the anormaly.;A major problem in a baby with oesophageal atresia is the associated anomalies which are present in over 50% of the patients; therefore section 4 is devoted to the consideration of these anomalies with emphasis on the most important specific anomalies.;It also includes the overall care of the child and family and to complete the monograph by describing the management of specific problems and complications, and the longterm results of surgery.;This book is presented in the hope that it will be of help to all concerned with the care of the baby with oesophageal atresia and its family, recognizing that the field is wide, involving as it does representatives of many medical and paramedical disciplines.