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 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.

Cheese puffs. Coffee. Sunscreen. Vapes. Hand sanitiser. George Zaidan reveals the weird science behind everyday items that may or may not kill you, depending on whom you ask. If you want easy answers, this book is not for you. But if you're curious which health studies to trust, what dense scientific jargon really means, and how to make better choices when it comes to food and health - dive right in! Zaidan makes chemistry more fun than potions class as he reveals exactly what science can (and can't) tell us about the packaged ingredients we buy in the supermarket. He demystifies the ingredients of life and death - and explains how we know whether something is good or bad for you - in exquisite, hilarious detail at breakneck speed. PRAISE FOR INGREDIENTS 'If you ever thought that chemistry might be really interesting (it is), but your eyes glazed over in high school chem class, this is the book for you. George Zaidan will keep you laughing out loud as he shares the wonders of our most useful, practical science, with brilliant analogies that even an 11-year old can understand.' Daniel J. Levitin, author of Successful Aging and This is Your Brain on Music 'If you crossed Bill Nye with Stephen Colbert, you'd get George Zaidan. Ingredients is a masterful piece of science writing.' Daniel H. Pink, author of When and Drive 'Ingredients lifts the film from our eyes with humour and reassurance.' Hank Green, author of An Absolutely Remarkable Thing 'At last, a book on nutrition that tries to make you understand how little we know instead of offering blanket prognostications. If instead of a simple solution, you want a guide to how to think about health, this is it.' Zach and Kelly Weinersmith, New York Times best-selling authors of Soonish 'Ingredients, is everything that should lead you to expect: funny, edgy, fascinating, dismaying, reassuring, and overall just incredibly smart.' Deborah Blum, Pulitzer prize-winning author of The Poison Squad 'You should buy Ingredients because it teaches you how to think better - like a smart, informed, and wickedly funny scientist.' Sam Kean, author of The Disappearing Spoon 'Omfg this book is FABULOUS! It's hilarious, insightful, sassy, and reassuring. A delightful roller-coaster of science communication.' Kallie Moore, Co-host of PBS Eons

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.

The Genetic Analysis of Complex Disease provides a comprehensive introduction to the various strategies, designs, and methods of analysis for the study of human complex genetic disease. Chapters present clear and easily referenced overviews of the broad range of considerations involved in genetic analysis of human complex genetic disease. This updated third edition includes a new chapter on next-generation sequencing, copy-number variants and epigenetic analysis, increased emphasis on bioinformatics tools, and a new expanded chapter on complex genetic interactions.

Major advances in the diagnosis and treatment of oral clefts have been made in the past 50 years, and recent genetics and epidemiological studies have led to new theories about the causes of cleft lip and palate. Addressing issues that are relevant to clinicians, researchers and family members, this book is a comprehensive, well-illustrated, and up-to-date account of the many facets of this common disorder. The authors describe the embryological and molecular mechanisms of cleft causation, present and illustrate the genetic and epidemiological methods used to identify risk factors for oral clefts, and describe treatments by the various professionals of the cleft team. A section is also devoted to the integration of research findings into public health practice, including ethical and financial considerations. The book draws together such diverse disciplines as craniofacial development, gene mapping, epidemiology, medicine, ethics, health economics, and health policy and management, and it will be an invaluable reference work.

Inherited disorders of the kidney are becoming important, not only in pediatric nephrological practice, but also in adult nephrology, representing a high proportion of patients with end-stage renal failure. In almost 50% of all children and in 15% of adults accepted for renal replacement therapy, the causative disorders have a hereditary basis. Many of these disorders are apparent at birth but may not cause renal failure until adolescence. Others may not present until adult life. The contribution of these disorders to adult nephrological practice has so far been understated in most of the existing textbooks. This book presents a practical approach to the investigation and management of patients with inherited renal disorders. The book is aimed at both established pediatric and adult nephrologists, as well as nephrologists in training, and will also be of interest to pediatricians, geneticists, and research workers in this field.

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.

A comprehensive work written by driving forces in the field, defining the
essentials of congenital heart disease.

Over the last 50 years, tremendous strides have been made in the treatment
of congenital heart disease. Many patients with congenital heart disease
are now reaching adulthood and seeking medical care from cardiologists,
internists, and family practitioners who do not historically deal with
congenital heart disease. Written by two acclaimed authorities and
educators in the field, Jesse E. Edwards' Synopsis of Congenital Heart
Disease provides these physicians with a richly illustrated refresher
course, and a handy reference text, in the fundamentals of congenital heart
disease.

In this book, Dr. Jesse Edwards shares his vast experience in a discussion
of the fundamental anatomy and physiology associated with congenital heart
disease. The text provides succinct descriptions of the common and uncommon
abnormalities of congenital heart disease and the principles underlying
their treatment, while 200 figures clearly demonstrate and guide the user to
understand the essential nature of the characteristic defects and
abnormalities discussed.

This book will serve as a unique and useful reference to broaden the
knowledge of adult cardiologists, internists, radiologists, cardiovascular
nurses, nurse practitioners, cardiac catheterization personnel, and other
paramedical professionals who wish to understand more thoroughly the
fundamentals of congenital heart disease.

The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy gauge 3ml lamination with sealed edges and two metal eyelets for hanging makes chart highly durable. Write-on/wipe-off with dry erase marker (not included).

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.

Following on from the success of the international best-seller "Key Questions in Cardiac Surgery", the long-awaited KEY QUESTIONS IN CONGENITAL CARDIAC SURGERY will be the latest book in the Key Questions series to be released. Key Questions in Congenital Cardiac Surgery will systematically cover all the main topics involved in the current practice of a congenital cardiac surgeon. It will incorporate current guidelines for practice (such as from the American College of Cardiology, American Heart Association, British Paediatric Cardiac Association and European Society of Cardiology) and up-to-date information based on current literature. Each chapter will be structured to include the aetiology, pathophysiology, clinical features, indications for surgery, peri-operative management, surgical options and postoperative care. Possible complications will be discussed and the results of current practice presented. Importantly, there will be a section on basic sciences related to the practising congenital cardiac surgeon and a further section on congenital cardiac investigations with many images illustrating the variety of pathologies. Each chapter will also contain important references for further reading and greater depth of knowledge. The data and body of knowledge presented in this book is strictly evidence-based and is relevant to all congenital cardiac surgical trainees, at any stage of their training programme. It will provide residents, fellows and specialist registrars the necessary information to carry out their daily duties. Congenital cardiologists and paediatric cardiac intensive care unit specialists will also find the book useful in terms of the indications and surgical management of these patients, as they are integral to the congenital cardiac surgical process. Another important group is the nursing staff, physiotherapists and other professions allied to medicine working with patients with congenital cardiac disease either pre-operatively or postoperatively, as it will help to give a detailed understanding of the principles surrounding congenital cardiac surgical disease. Most importantly, the book is ideal as a revision aid for residents/registrars undertaking their Cardiothoracic Surgery Board examinations around the world. Although these examinations vary in format in different countries, this book is applicable to all cardiothoracic surgical trainees. Its concise, yet complete coverage of the important topics, make it the ideal guide to answer the key questions in congenital cardiac surgery that are asked within the confines of an examination.

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.

The Understanding PAD chart presents an overall view of the symptoms and causes of Peripheral Artery Disease (PAD). A large graphic shows the vascular system with affected areas. Smaller views accompany the sections on stroke, thrombosis, atherosclerosis, along with blood clotting. Heavy cover stock with protective varnish for durability.

'Congenital Heart Disease in the Right Heart' is an exhaustive review of the malformations of the right ventricle with particular emphasis on the ability of the ventricle to support circulation and the results of right heart malformations on circulation. Edited by the world's foremost authorities on the subject, the book benefits from an international team of contributors.

Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome. This is a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioural considerations, this guide covers all aspects of Fragile X syndrome, its implications, and the possibilities open to families affected by it. It demonstrates how, with the right therapies, progress can be made and emphasises how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition. This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and are looking to find out more.

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity.

This text reviews our understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal diagnostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contractures, and examines the potential, in the future, for effective treatment utilizing the new techniques of gene and cell therapy.

Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.

Originally published as Preventative Management of Children with Congenital Anomalies and Syndromes, this new edition provides health professionals with an invaluable, structured approach to the preventive care of children with congenital disorders. Over 150 conditions ranging from cerebral palsy to Down syndrome are discussed. The large number of conditions covered and the added perspective of a developmental pediatrician (Dr Cooley) provides a valuable resource for carers and parents. For each disorder there is an introductory summary of key information, followed by more detailed listing of general pediatric and speciality concerns, all structured to provide an integrated approach to patient care. For 32 common disorders or disease categories, preventive management checklists are provided: these checklists provide an ongoing record for the child's medical complications and progress and they are designed to be copied and placed in the medical record. The text provides details of medical complications and preventive recommendations supported by key literature and web resources for parents and professionals.

New discoveries reveal how crucial interactions which determine our destiny occur before birth, when our genes interact with their environment as the embryo and fetus develop. These processes - in the matrix of the womb - are evolutionary echoes of mechanisms which allowed our hunter-gatherer ancestors to survive. These exciting insights into predictive adaptive responses suggest new ways of protecting the health of the fetus, infant and adult. If inappropriate they can trigger obesity, diabetes and heart disease, formerly thought to result solely from adult lifestyle. The new concepts in this book are crucial to understanding the daunting public health burden in societies undergoing rapid transition from poverty to affluence. They add an important new dimension to evolutionary theory. Synthesising developmental biology, evolutionary history, medical science, public health and social policy, this is a ground-breaking and fascinating account by two of the world's leading pioneers in this important emerging field.

Prader-Willi syndrome (PWS) is associated with an assortment of physical, behavioural and cognitive abnormalities which create a broad range of care needs. Information about the syndrome is spread across a variety of disciplines. In this book the authors seek to identify and provide the latest findings about how best to manage the complex medical, nutritional, psychological, educational, social and therapeutic needs of people with PWS. Their approach is an integrated one, centred on the PWS phenotype. Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.