Medfödda sjukdomar & rubbningar

En familjs kamp för att rädda sin sonVi tålde inte fett i maten.Vi led av en x-kromosombunden recessivt ärftlig sjukdom där mina barn ärvt genen till 50 procent. Min äldste son skulle dö. Endast ett syskon kunde rädda vår yngste son, Felix, liv. Sjä…

Varje dag drabbas någon av ärftlig cancer i vårt land, och de sällsynta ärftliga sjukdomarna är så många att man i sjukvården, oavsett specialitet, regelbundet kommer i kontakt med drabbade patienter.Läs merGenetiska sjukdomar är en översiktlig, pra…

"Diagnosis and Management of Adult Congenital Heart Disease", by Drs. Gatzoulis, Webb, and Daubeney, is a practical, one-stop resource designed to help you manage the unique challenges of treating long-term adult survivors of congenital heart diseas…

Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight tho…

This is a comprehensive reference book on: the latest clinical findings on the effects of genetic disorders, nutrition, neonatal and postnatal growth, ovarian insufficiency, lymosomal disorders, urea cycle defects, amino acid and organic acid disord…

"Genetic Diseases of the Kidney" provides expert insight into the role of genetic abnormalities in the pathogenesis of deranged kidney function and kidney disease. The principles of mammalian genetics are first elaborated, with special consideration…

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 dec…

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 an…

This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the fi…

With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans and almost all children with the syndrome have speech and language impairments that are general…

This user-friendly handbook is intended to help the busy physician with that first critical step in clinical diagnosis.

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 f…

The onset of cancer presents one of the most fundamental problems in modern biology. In "Dynamics of Cancer", Steven Frank produces the first comprehensive analysis of how particular genetic and environmental causes influence the age of onset. The b…

Primary immunodeficiency diseases, first recognized 60 years ago, are inherited disorders that affect human adaptive and innate immunity. In most cases, affected individuals experience recurrent infections, but they may also suffer from autoimmune d…

Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, mole…

Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, mole…

This extensively illustrated book guides readers through the use of ultrasound-including modern 3D images-to detect and identify birth defects in utero. Up-to-date advice is offered on the differential diagnosis of a wide range of fetal abnormalitie…

The genodermatoses are a group of inherited skin disorders forming a small but important proportion of the cases seen by dermatologists and paediatricians. Recent genetic developments have led to a better understanding of the underlying aetiology of…

For children with Down syndrome, it is essential to lay the foundation for speech development as early as possible. To achieve the best possible results, the latest research shows that an integrated approach to speech development is most effective,…

This issue serves as a timely review of both the genetic and genomic factors resulting in a predisposition to human cancer. There is now strong evidence to support the use of genetic testing for cancer predisposition in the practice of preventive me…

The first book devoted exclusively to the principles and practice of genetic counseling--now in a new editionFirst published in 1998, "A Guide to Genetic Counseling" quickly became a bestselling and widely recognized text, used nationally and intern…

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 Rus…

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 impor…

Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early in…

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 third edition of the classic monograph on the topic, Alan Emery is joined by Fran…

'Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their…

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…

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…

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, fo…

This book represents the state of the art of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. It offers a current…

Living with haemophilia has established itself as the complete guide to haemophilia and related disorders. Written primarily for affected families, the. book also provides a useful and up-to-date guide for doctors, paramedical staff, including nurse…

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This publication offers an annual review of notifications of congenital anomalies received as part of the England and Wales National Congenital Anomaly System.This publication is prepared by The Office for National Statistics - a highly-trustworthy…

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 lates…

This volume aims to cover all the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters cover the analysis of gene mutations, as well as the functional organization of genes and chromosomal regions. The techniq…

This book is designed as reference material to increase knowledge of the human body. Beautiful full-colour illustrations help enhance understanding of the body or illness. It is suitable for healthcare professions, patients, students, educators and…

Designed as reference material to increase knowledge of the human body, this title features beautiful full-colour illustrations that help enhance understanding of the body or illness. It is suitable for healthcare professions, patients, students, ed…

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…

An authoritative introduction to Parkinson's disease and its related disorders and syndromes, this book provides a concise overview of the disease and its diagnosis and management. The author presents samples of clinical, investigative (CT, MRI, and…

Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion inc…

This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast…

This book is directed toward the molecular composition, pathogenesis, diagnosis, treatment and control of congenital and other related diseases of the newborn that are caused by a variety of viruses. These viruses comprise several families that incl…

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 2004 book t…

This book provides extensive clinical descriptions of the spondylarthritides, as well as reviews of the clinical features of these diseases. Written by an international team comprised of leading authorities in the field, the book will be of consider…

"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 - ran…

Over the last 20 years it has become increasingly apparent that the occurrence of many cancers can have an inherited basis. This book examines the principles underlying genetic predisposition to cancer and will be relevant to practising oncologists,…

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 re…

Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what ha…

The preeminent book on cancer cytogenetics--now in a valuable new editionLike its successful predecessors, "Cancer Cytogenetics," Third Edition continues to offer authoritative coverage of neoplastic processes at the chromosomal level of genomic org…

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 report…

Down syndrome is a developmental disorder caused by the presence of an extra copy of chromosome 21. This extra genetic material causes changes in the production of various proteins, such as enzymes and cell adhesion molecules, which can disrupt meta…

Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of others. Lik…