"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."

In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

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.

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.

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

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.

This is the first volume in an interdisciplinary three-book series covering the full range of biological, clinical, and surgical aspects in the evaluation, diagnosis, and treatment of patients with craniofacial malformations. This volume opens by considering general topics such as developmental biology and disease classification and then examines in depth the biological basis of the various malformations, including craniosynostoses, cleft-lip and palate with complex orofacial clefts, branchio-oculo-facial syndromes, rare syndromes, soft tissue malformations, and dysgnathia. Psychological aspects, including psychological evaluation methods and therapies and quality of life issues, are then addressed. Finally, all relevant clinical, radiological, and genetic investigations are described and important diagnostic issues are explored. Featuring numerous high-quality illustrations, the book will be of high value for all clinicians, researchers, and postgraduate students who deal with these malformations. The accompanying two volumes describe treatment principles and present in an atlas manner all relevant surgical techniques in detail. The content of this multivolume set, written by the world's leading research and clinical specialists in their discipline, represents therefore the recent intellect, experience, and state of this medical field.

Prader-Willi syndrome (PWS) is a rare, genetic, multisystemic disorder, characterised by short stature, muscular hypotonia, intellectual disability, behavioural and psychological problems and frequently hypogonadism and impaired growth hormone secretion. PWS arises due to loss of function of paternally-expressed, imprinted genes from chromosome region 15q11-q13. In new-borns and infants, the syndrome presents symptoms of muscular hypotonia and nutritional difficulties, which from the age of approximately two years is replaced by hyperphagia often leading to severe obesity. With increasing age the behavioural and psychological problems increase while the muscular hypotonia improves. During the last decades the knowledge of different aspects of PWS has increased and accordingly the treatment possibilities. However, no specific treatment exists and thus problems continue lifelong. Taking care of PWS patients is therefore a demanding task and necessitates a solid knowledge and understanding of the disorder as well as a multidisciplinary approach. This book will provide professionals taking care of patients with PWS with updated and comprehensive information and advise. The content is built up logically and it will be easy to navigate between the chapters, which cover all clinically relevant issues, genetics, signs and symptoms in children and adults, treatment, words from patients and parents, supporting organisations, and from a parent to a PWS patient.

Dana Creighton and her mother both were affected by the same inherited cerebellar degeneration, known as ataxia--a loss of control over body movements. Both were treated by a healthcare system that failed them in different ways. Yet their experiences with ataxia were disparate. Where Creighton eventually found the right tools to piece together meaning and purpose in her life, her mother resisted accepting the reality of her condition, in part because doctors repeatedly said nothing was wrong with her. Twenty-five years after her mother's suicide, Crieghton's memoir finds striking similarities and differences in their lives and traces a lineage of family trauma. Drawing on research in neuroplasticity, medical records, personal correspondence and genealogy, her narrative highlights the gap between the lived experience of debilitating ailment and the impersonal aims of clinicians, and shows how the stories parents tell themselves about living with a genetic disorder influences how they communicate it to their children.

'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.

This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases.

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/

Bringing together the most up-to-date information on congenital Mullerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field's current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Mullerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

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.

This book on Hirschsprung's disease (HD) contains a complete update on the various aspects of this disease. It is the collaboration of an international group of paediatric surgeons well-known in their fields who are experts in this pathology and of other prestigious professionals -- neurobiologists, physiologists, geneticists, paediatricians, and histopathologists. Over the course of 28 chapters, these authors describe the latest advances in the diagnosis and treatment of this pathology. The first part is an update of the anorectal physiology, pathophysiology, genetics, and histopathology. The second part deals with the clinical manifestations and diagnosis in the new-born, with especial reference to manometric diagnosis during the neonatal period and to the morphological and radiological study. Other important chapters are devoted to differential diagnosis, preoperative care, indications for ostomy, and preparing the child for the pull-through. The third part describes the various classical surgical options (Swenson, Duhamel, Soave, Rehbein), and the new methods using laparoscopy and transanal pull-through, which have been the major breakthrough in the treatment of this condition. Total colonic aganglionosis and the critical review of the different surgical techniques occupy two magisterial chapters. The fourth part comprises an extensive exposition of enterocolitis in HD, the long-term results following surgery, other variants of HD, and two novel chapters in treatises on this disease (intestinal transplants and nutrition). In the Annex, parents of children with this disease describe their experience. The book ends with a final chapter devoted to informed consent. This book will be an invaluable reference for paediatric surgeons and paediatricians and gastroenterologists, and has a special interest for parents of children with Hirschsprung's disease.

Many of the fundamental concepts in genetics are applicable across various organisms-microorganisms, plants, animals, and humans. This book presents a concise discussion of these universal genetic principles. In addition, this book also puts a spotlight on an aspect of genetics that is distinctly human, that of genetic disorders. Many of these are rare, have no cure, and have no specified cause. This book discusses representative genetic disorders as well as some of the DNA-based technologies that enable a better understanding of these disorders.

Cases in Adult Congenital Heart Disease, by Michael Gatzoulis et al., is a new, one-of-a-kind cardiology textbook designed to help you effectively manage these conditions through comprehensive visual guidance. Leading experts present 85 cases-ranging from the simple to the complex, supplemented by abundant videos and images-which enable you to diagnose these conditions from a real-life, clinical perspective. A companion DVD featuring surgical video clips of congential operations of both corrected and uncorrected problems, samples of heart sounds, and much more, helps you to better manage your patients. Features 85 cases encompassing a full range of congenital heart disease problems-from the simple to the complex-that provide a better understanding of these conditions from a real-life, clinical perspective. Presents examples of multiple imaging modalities (including chest radiography, echocardiography, CT, MR, and angiography) clearly depict the clinical manifestations of congenital defects and provide you with the best views available of these conditions. Includes a companion website at expertconsult.com featuring the full text fully searchable online and images and supplemented by a library of dynamic imaging clips allows you to access this unique resource in another convenient way. Offers guidance on the assessment of congenital heart disease during pregnancy equips you with essential knowledge in addressing the needs of this growing patient population.

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.

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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