To most cardiologists, the long QT syndrome is a relatively rare congenital and familial syndrome that affects children or young adults. However, in addition to congenital LQTS there is a series of acquired forms of the syndrome, usually resulting from exposure to drugs that extend the duration the QT interval. This prolongation may be the primary pharmacodynamic action of the drug, however a plethora of other drugs, including some types of antibiotic, antipsychotics, antidepressants, antimalarials and antihistamines may provoke QT interval prolongation.

The aim of the "Clinical Approaches to Tachyarryhthmias" series is to update the physician, cardiologist, and all those responsible for the the care of patients with cardiac arrhythmias. In this volume, Dr. Yap and Dr. Camm expose the data implicating a large number of drugs as potential QT prolongators.

Neurogenetics is intended for any physician or scientist who manages patients with inherited diseases of the nervous system. It presents the clinical phenotypes of the most commonly inherited neurologic diseases, and their molecular pathogenesis, followed by a description of the appropriate
tests to be used in diagnosis. Two introductory chapters familiarize the nongeneticist with medical genetic terminology and molecular genetic techniques useful in the analysis of genetic disease and genetic testing. Subsequent chapters examine major neurologic disorders caused by single defects,
as well as disease phenotypes such as Alzheimer disease or amyotrophic lateral sclerosis which may be caused by defects in single genes, but may also be seen as sporadic diseases. The genetic components of other common neurologic disorders, such as epilepsy, multiple sclerosis, migraine, and stroke
are all covered in detail. The final chapter discusses genetic counseling of symptomatic and pre-symptomatic individuals. Throughout, chapters discuss genotype/phenotype correlations and, where appropriate, animal models for inherited human neurologic diseases. Several chapters are devoted to
recently discovered diseases caused by unstable DNA repeats. Special emphasis is placed on conveying how DNA testing can be applied to the daily practice of geneticists and neurologists.

Based on some 30 years of research on people who claim to remember past lives, this work encompasses the full spectrum of theory and case study on the subject to date. Early in his investigations, Stevenson became aware that some who remember past lives had birthmarks or birth defects that corresponded to wounds, usually fatal, on the person whose life was remembered. The work suggests surprising answers to such questions as the following: Why does someone born with a birth defect have the one he or she has, instead of another one? Why do some children show phobias in early infancy when they have had no traumatic experiences and no model for the phobia in their family? Why are some monozygotic (one-egg) twins markedly different from each other? Why do many boys who later become homosexual show effeminate behavior in infancy before their parents can have influenced them to do so?

Writing as a scientist and a Western medical professional. Stevenson realizes that the idea that wounds on a deceased person can influence the embryo of a later-born baby is subversive of many assumptions of modern biology. Knowing that each individual case has some flaw or weakness, he decided to publish the entire corpus of cases of this sort. Photographs of birthmarks and illustrations of weapons form part of the evidence in this daring and explorative reaearch. This work will be of particular interest to physicians, psychiatrists, biologists, and anthropologists. In addition, those concerned with paranormal phenomena and the mind-brain problem will find this work challenging.

Drs. Bharati and Lev share the knowledge they've accumulated through the study of the pathology of congenital heart disease as seen in this century. Their detailed studies of over 6,300 congenitally malformed hearts give them a unique and comprehensive perspective on this topic. This monograph reports the results of their analyses and includes 2,700 excellent photographs. This book will be of significant interest to those working with or studying about congenital heart disease. This book will help clinicians and surgeons to diagnose congenital heart disease. Likewise, it offers protocol for correcting the lesions, nonsurgically and surgically. Concurrently, the text offers fertile ground for selective basic science specialities: genetics, immunology and molecular biology. Epidemiologists, statisticians and computer experts will want to review this book

"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.

'A big-picture forecast of how medicine stands on the threshold of a revolution that will radically change all of our lives' The Times Welcome to a revolution in the science of you! This landmark new book from award-winning scientist Daniel M. Davis explores the future of the human body. Imagine taking drugs to help you acquire new skills, or knowing years in advance the precise likelihood of developing specific cancers, or following a diet and health regime tailored to your microbiome, or even having continuous monitoring of your body's workings and well-being. Written by an award-winning scientist, this landmark book shows how these radical and disconcerting possibilities have been made real. It is at once a gripping drama of scientific ingenuity, discovery and collaboration, and a vision of the human body of dizzying complexity and wonder. 'The startling new discoveries...are radically altering our understanding of how we function and what our future holds' BRIAN COX 'Thrilling' BILL BRYSON 'Brilliant' TIM SPECTOR 'Extraordinary' ALICE ROBERTS

Can you imagine not being able to speak or communicate? The silence, the loneliness, the pain. But, inside you disappear to magical places, and even meet your best friend there. However, most of the time you remain imprisoned within the isolation. Waiting, longing, hoping. Until someone realises your potential and discovers your key, so your unlocking can begin. Now you are free, flying like a wild bird in the open sky. A voice for the voiceless. Jonathan Bryan has severe cerebral palsy, a condition that makes him incapable of voluntary movement or speech. He was locked inside his own mind, aware of the outside world but unable to fully communicate with it until he found a way by using his eyes to laboriously choose individual letters, and through this make his thoughts known. In Eye can Write, we read of his intense passion for life, his mischievous sense of fun, his hopes, his fears and what it's like to be him. This is a powerful book from an incredible young writer whose writing ability defies age or physical disability - a truly inspirational figure. Foreword by Sir Michael Morpurgo A portion of the proceeds from the sale of this book will be donated to Jonathan Bryan's charity, Teach Us Too. http://www.teachustoo.org.uk/

New genetic causes of mental retardation are being discovered at rapid rates--every day more people are diagnosed with specific syndromes. This comprehensive guide identifies characteristics of people with these syndromes to help you understand their behaviors and needs, provide better interventions, and create wider community inclusion. Through easy-to-read, detailed discussions of four major syndromes--Down, Williams, fragile X, and Prader-Willi--you'll learn about genetic causes and implications, cognitive profiles, medical complications, prevalence of these syndromes, speech and language issues, behavioral issues, and basic physical characteristics. You'll also find research-based intervention strategies that help you manage issues related to education, personal relationships, employment, and living arrangements. And you'll get in-depth information on five less researched syndromes: velocardiofacial, Rubinstein-Taybi, Angelman, Smith-Magenis, and 5p- (cri-du-chat). This book provides the solid foundation of knowledge you're looking for to better support individuals with genetic disorders.

Down syndrome is a genetic condition which causes varying degrees of learning disability as well as other health problems. Nearly one baby in every 1000 born in the UK has the condition. Parents are often frightened and confused by the birth of a baby with Down syndrome, and they need reassurance as well as up-to-date information regarding the condition.
The new edition of this highly regarded book for parents of children with Down syndrome covers a number of important new developments in research and clinical practice that have occurred in the field in recent years. These include several newly recognised medical conditions that are known to occur more commonly in patients with Down syndrome, for example, glaucoma, gastrointestinal malformations, feeding difficulties, gastro-oesophageal reflux, coeliac disease, and diabetes. This expanded edition also includes new recommendations regarding routine health checks in line with those of the UK Down Syndrome Medical Interest Group (UKDSMIG). Additionally the book covers new prenatal screening methods which have been developed to identify Down syndrome during pregnancy.

This concise manual provides clinicians and other related health care professionals with an essential reference tool to the background of cystic fibrosis, and the management and treatment of this disease. The latest guidelines are reviewed and current and emerging treatments are discussed in the latter chapters. Cystic fibrosis is an inherited condition where a mutation in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) causes loss of function. The dysfunction of CFTR results in the production of thick mucus in the lungs and digestive tract, causing pulmonary and gastrointestinal manifestations. The incidence of cystic fibrosis in Europe and the US ranges between 1 in 2,000 and 1 in 25,000.

This second edition has been comprehensively updated to reflect current clinical practice and the latest technical developments, including pre-implantation genetic diagnosis, array CGH, QF-PCR, non-invasive prenatal diagnosis and next generation sequencing amongst others. The first section covers basic principles, while the second outlines the more common situations where obstetrics and gynaecology interact with medical genetics. The third section contains real-life clinical case scenarios which have been selected to represent typical problems and to highlight areas which, if mismanaged, could have serious medico-legal consequences. Together with its accompanying website (www.essentialmedgen.com), it provides an invaluable guide to the use and selection of useful online genetic resources. This book is essential reading for candidates preparing for the MRCOG postgraduate examination, and any health professionals requiring a clear understanding of medical genetics and its increasingly frequent uses in obstetrics and gynaecology, where incorrect genetic advice can have serious consequences.

Clinical Diagnosis of Congenital Heart Disease is the latest edition of this comprehensive, highly illustrated guide to the diagnosis of congenital heart disease. Divided into 31 sections, each chapter discusses a different aspect of congenital heart disease, clearly explaining history, assessment, imaging, clinical diagnosis and management techniques. This third edition has been fully revised to provide the latest advances in the field, with in depth discussion on new diagnostic modalities. Each topic concludes with a summary of key points, and includes schematic diagrams depicting abnormal anatomy and its pathophysiological consequences. Key Points Highly illustrated guide to diagnosis of congenital heart disease Fully revised, third edition with in depth discussion on new diagnostic modalities Each topic features a summary of key points and schematic diagrams of abnormal anatomy Previous edition (9789351529125) published in 2015

The most frequently asked questions that confront the fetal medicine trainee/expert on a daily basis are "Is the finding real or merely an artifact?" and "Is the diagnosis correct?". However, to be able to find the description of an abnormal ultrasound finding in a textbook, one generally has to search by the definite diagnosis, which has not been done as yet. This uneasy feeling was the first factor that directed the layout of Ultrasound of Congenital Fetal Anomalies: Differential Diagnosis and Prognostic Indicators, Second Edition. Copiously illustrated, the book displays fetal anomalies by scanning view and descriptions of all major ultrasound planes, detailing what can be considered a normal view and what cannot. See What's New in the Second Edition: Early detection of fetal anomalies (1214 weeks) Ultrasound in fetal infections and in twins The nuchal translucency issue, the newest intracranial translucency as well as the range of congenital anomalies detectable at this gestational age Expanded coverage of heart anomalies, including arrhythmias and early fetal echocardiography The author's mission continues to be to provide guidance on how to quickly recognize and diagnose congenital fetal anomalies, beginning at the beginning with ultrasound sigh all the way through to final diagnosis.

Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest inherited muscular dystrophy and has a profound effect on individuals who are diagnosed with the disease and their families. It is present for many decades of a patient's life but, unlike the other dystrophies, it also affects the organs in the body, making this a very distinctive disorder, and a very troubling one for those close to it.
When the first edition of Myotonic Dystropy: The Facts published in 2002, it was widely appreciated by families, support groups, professionals, and reviewers for its simple and clear approach to key practical questions. This new edition retains the same successful structure, but now includes new material on the recognition of the distinct "type 2 myotonic dystrophy," which had only just been identified at the time of the first edition. Further explanation of the advances in basic understanding of myotonic dystrophy, and additional coverage of the new approaches to therapy and management of the condition are also included, as well as comprehensive discussion of the recent on-going worlwide research.
New to this edition are "Key Facts" at the beginning of each chapter, "Frequently Asked Questions" boxes, and up-to-date contact details for worldwide myotonic dystrophy support groups.

Dr. Perloff, the founding father of the field of adult congenital heart disease, presents a decade's worth of research and clinical data in the completely redefined 3rd edition to bring you the most current information. With advances in diagnosis and treatment in children, more and more of those with CHD survive well into adulthood. Expert contributors in various fields offer a multi-disciplinary, multi-system approach to treatment so you get comprehensive coverage on all aspects of the subspecialty, including basic unoperated malformations, medical and surgical perspectives, postoperative residue, and sequelae. As someone who treats these patients, you need to be ready to provide the continual care they require. Conveys a multidisciplinary, multi-system approach to the lifelong care of adult CHD patients to put treatment in a broader context. Presents information in a consistent, logical style so the information you need is easy to find and apply. Supplements the text with 600 clear conceptual illustrations to clarify difficult concepts. Features completely rewritten chapters to include the latest developments in the field-such as major advances in surgical and interventional techniques-and the various needs of patients with adult CHD. Incorporates recently published trials such as those involving cyanotic CHD and atherogenesis, coronary microcirculation, and pathogenesis of thrombocytopenia to supplement the chapter on cyanotic CHD. Emphasizes advances in imaging in a new section-edited by an expert-that covers echocardiography as well as specialized imaging techniques. Illustrates the full range of advances in the field with 600 images that reflect the latest progress. Includes new chapters-Global Scope of ACHD; Cardiac Transplantation; Electrophysiologic Abnormalities in Unoperated Patients and Residue and Sequelae After Cardiac Surgery-to provide you with the latest information on the growth of the subspecialty and its effect on treatment. Presents revisions by a new authorship of experts in infectious disease, genetics and epidemiology, sports medicine, neurology, cardiac surgery, cardiac anesthesiology, and more.

For thousands of loving and concerned parents of autistic children, the suspicion that something may be wrong comes long before the clinical diagnosis of autism, PDD (pervasive developmental disorder), or Asperger's syndrome. When rounds of testing and consultations confirm parents' worst fears, their emotional turmoil is matched by an overriding practical concern: What do we do next? The World of the Autistic Child is by far the most complete and comprehensive book ever written for the parents of autistic children, and for the teachers, child specialists, and other professionals that care for them. Written by Dr. Bryna Siegel, a developmental psychologist and director of a large university clinic for autistic children, it provides help and hope not only for the children, but for their families--the parents, grandparents, siblings, and other caregivers who must come to grips with their own grief and confusion following a diagnosis of autism or other related disorder. Dr. Siegel believes that parents' best defense is to acquire, as early as possible, the knowledge and the parenting skills they will need to work with professionals to help their child fulfill his or her potential. This book, therefore, is about understanding the diagnosis of autism, the available treatments, and how to decide what is best for a particular child with autism or PDD. Straightforward and sympathetic, Dr. Siegel guides readers through the thicket of symptoms and labels, explaining the crucial importance of intensive early education, and how to find the resources and help that are available. Behavior modification, the development of daily living skills, guidelines for selecting and designing schooling, mainstreaming, the role for traditional academics in educating higher functioning children and young people, building effective parent-teacher relationships, psychoactive medications, and dealing with the possibility of residential placement are all covered. Dr. Siegel teaches parents and professionals to use their own common sense and personal observations in evaluating the many highly publicized but unorthodox and often untested treatments for autism, including the much-touted facilitated communication (F/C), holding therapy, auditory training, "Options" therapy, allergy treatments, and special diets. Pulling together a wealth of long-needed information on the latest educational and medical advances, The World of the Autistic Child is a superb guide and resource that no one who cares about autistic or developmentally disabled young people will want to be without.

Recent years have seen rapid advances in our understanding of genetic diseases in terms of their molecular origins. The book focuses on DNA mutations which give rise to abnormalities of protein structure and function in genetic disease.

A practical approach to the investigation and treatment of adult congenital heart disease (ACHD), this fully updated Oxford Specialist Handbook is a concise and accessible overview of a complex condition. Packed with straightforward advice, management strategies and key clinical points, it equips clinicians with a sound understanding of the principles and physiology of ACHD. An ideal reference tool for cardiology trainees, general cardiologists and acute medicine physicians, this second edition of Adult Congenital Heart Disease has been fully reviewed to include new guidelines and increased illustations to aid understanding. Brand new chapters on epidemiology, heart failure, device therapy and transition and transfer of care ensure that Adult Congenital Heart Disease remains the definitive guide to supporting clinicians throughout all aspects of the patient's care.

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 first advanced-level genetics counseling skills resource

As genetic medicine and testing continue to expand, so the role of the genetic counselor is transforming and evolving. "Genetic Counseling Practice: Advanced Concepts and Skills" is the first text to address ways that genetic counselors can deepen their skills to meet expanding practice demands. This timely resource not only helps readers further develop their abilities to gather relevant data and interpret it for patients, it also aids them in surpassing their usual role by truly understanding patient situations, incorporating patient values into clinical practice, providing in-depth support, and facilitating thoroughly informed, autonomous decisions.

Edited by an expert cross-disciplinary team consisting of a genetic counseling program director, a licensed psychologist, and a nurse/bioethicist/family social scientist, this authoritative reference provides specific and detailed instruction in addressing psychosocial aspects of genetic counseling practice and professional development and training issues of genetic counselors.

Provides a "process" view of genetic counselor service provision; i.e., skills that promote desired genetic counseling outcomes are emphasized (such as relationship skills, patient characteristics, client behaviors, and extra-clinical skills)

Includes experiential activities in every chapter to help readers apply concepts and skills

Draws on the experience of widely recognized experts in genetic counseling theory, practice, and research, who serve as chapter authors

Features numerous specific, real-life examples from clinical practice

"Genetic Counseling Practice" addresses issues relevant to practicing genetic counselors as well as students of genetic counseling programs. In addition, oncology nurses, social workers, and psychologists working with genetic counseling patients and families; medical geneticists and physicians training in the field; and physician assistants will also benefit from this resource.

John T. Alexander's study dramatically highlights how the Russian people reacted to the Plague, and shows how the tools of modern epidemiology can illuminate the causes of the plague's tragic course through Russia. Bubonic Plauge in Early Modern Russia makes contributions to many aspects of Russian and European history: social, economic, medical, urban, demographic, and meterological. It is particularly enlightening in its discussion of eighteenth-century Russia's emergent medical profession and public health institutions and, overall, should interest scholars in its use of abundant new primary source material from Soviet, German, and British archives.

Recent advances in genetic methodology are providing important aetiological and developmental information to the growing literature on Attention Deficit Hyperactivity Disorder (ADHD) and related conditions. Attention, Genes and ADHD is the first book to review and integrate both behaviour-genetic and molecular-genetic advances in this area. It brings together international researchers to show how modern techniques may be applied to the investigation of ADHD, and reviews current findings in the field of ADHD and related conditions.
The book looks at the application of behaviour genetic approaches to twin studies, and reviews diagnostic to ADHD, the relationships between reading, spelling and ADHD, and family and genetic influences on speech and speech and language.
Chapters go on to consider the overlaps between ADHD, Oppositional Defiant Disorder and Conduct Disorder and to explore the environmental and genetic influences among these disorders. The neurobiological and genetic relationship between ADHD and Tourette's Disorder is also examined. The book reviews recent advances in molecular genetics - in particular a discussion of Fragile X as a model for a single single gene effects on ADHD, and the application of genetic methods and approaches to the study of candidate genes. Finally, the implications for education and intervention are discussed, and current and future roles of gentic studies of ADHD are explored, as well as implications of the sequencing of the human genome for child psychiatry.

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This well-organized and clearly written text has a unique focus on methods of identifying the joint effects of genes and environment on disease patterns. It follows the natural sequence of research, taking readers through the study designs and statistical analysis techniques for determining whether a trait runs in families, testing hypotheses about whether a familial tendency is due to genetic or environmental factors or both, estimating the parameters of a genetic model, localizing and ultimately isolating the responsible genes, and finally characterizing their effects in the population. Examples from the literature on the genetic epidemiology of breast and colorectal cancer, among other diseases, illustrate this process. Although the book is oriented primarily towards graduate students in epidemiology, biostatistics and human genetics, it will also serve as a comprehensive reference work for researchers. Introductory chapters on molecular biology, Mendelian genetics, epidemiology, statistics, and population genetics will help make the book accessible to those coming from one of these fields without a background in the others. It strikes a good balance between epidemiologic study designs and statistical methods of data analysis.

Examines common hereditary diseases and ways of avoiding them, discussing diabetes, heart disease, cancer, alcoholism, and the exploration of one's family medical tree.