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Автор: G. Shashidhar Pai Название: Handbook of Chromosomal Syndromes ISBN: 047137217X ISBN-13(EAN): 9780471372172 Издательство: Wiley Рейтинг: Цена: 97040 T Наличие на складе: Есть Описание: Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook Chromosomal Syndromes is the up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. For each syndrome, easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: A section devoted to the nomenclature of chromosome abnormalities Pictorial material suitable to be shown to patient populations Descriptions of the phenotype in tabular and text form for quick and easy reference Ideograms for each entry A list of key references
Автор: Jarrah Ali Al-Tubaikh; Maximilian F. Reiser Название: Congenital Diseases and Syndromes ISBN: 3642001599 ISBN-13(EAN): 9783642001598 Издательство: Springer Рейтинг: Цена: 127450 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: This book is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common
congenital diseases and syndromes. Chapters are organised according to body system, and focus on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and
the musculoskeletal system. In this book, a final chapter is devoted to phacomatoses.
Each syndrome or disease is illustrated by multiple images as well as by high-quality
digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point
of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted.
This book will be immensely useful for junior
radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes.
Автор: Antzelevitch Название: J Wave Syndromes ISBN: 3319315765 ISBN-13(EAN): 9783319315768 Издательство: Springer Рейтинг: Цена: 87380 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics.J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes.There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.
Автор: Walker Ruth H., Saiki Shinji, Danek Adrian Название: Neuroacanthocytosis Syndromes II ISBN: 3540716920 ISBN-13(EAN): 9783540716921 Издательство: Springer Рейтинг: Цена: 127450 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: This book contains the latest research regarding the neurodegenerative conditions known as neuroacanthocytosis. Recent advances have identified the range of mutations in the causative genes, shedding light on potential phenotype-genotype correlations. In vitro studies have identified potential protein interactions, which have important implications for pathophysiology, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes. Animal models are being generated which greatly facilitate understanding the significance of gene mutations in humans, and provide the foundation for possible therapeutic interventions.
Автор: Beryl Benacerraf Название: Ultrasound of Fetal Syndromes ISBN: 0443079684 ISBN-13(EAN): 9780443079689 Издательство: Elsevier Science Цена: 99070 T Наличие на складе: Невозможна поставка. Описание: This unique book facilitates recognition and identification of the fetal abnormalities seen in ultrasound. It is the only resource that provides so much detail about all of the fetal abnormalities currently known. An easy-to-use organisation makes it simple for readers to locate the most reliable information available today.
Автор: Christopher Gillberg,Mary Coleman Название: The Biology of the Autistic Syndromes ISBN: 1898683220 ISBN-13(EAN): 9781898683223 Издательство: Wiley Рейтинг: Цена: 47270 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Autism is not a single disease but a syndrome of different diseases. In this completely reworked and updated third edition, two world authorities, Christopher Gillberg and Mary Coleman, address the difficulties this presents for clinical diagnosis with di
Автор: Panayiotopoulos Название: Reflex seizures and related epileptic syndromes ISBN: 1447140419 ISBN-13(EAN): 9781447140412 Издательство: Springer Рейтинг: Цена: 23930 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Reflex seizures and related epileptic syndromes provides a concise, authoritative guide to this category of epilepsies. The clinical manifestations, aetiology, diagnosis, prognosis and management of the main types of visually induced seizures and epilepsies and also the main types of complex reflex epilepsies are described. C. P. Panayiotopoulos is an internationally renowned leader and expert in the diagnosis, treatment and management of epilepsy. This pocket-sized reference work will be a valuable resource for all those involved in the care of patients with epileptic seizures.
Автор: Ellis Название: Inherited Cancer Syndromes ISBN: 1441968202 ISBN-13(EAN): 9781441968203 Издательство: Springer Рейтинг: Цена: 75130 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: The second edition of Inherited Cancer Syndromes incorporates new genetic markers data with the clinical utility and practicality of the first edition.
Автор: Baum Название: Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood ISBN: 0781779383 ISBN-13(EAN): 9780781779388 Издательство: Lippincott Williams & Wilkins Рейтинг: Цена: 91440 T Наличие на складе: Поставка под заказ. Описание: "Thoroughly updated for its Second Edition, this reference is the only single-source guide to the anesthetic management of children and adults with genetic, metabolic, and dysmorphic syndromes. In a format designed for quick, easy look-up, this edition provides an encyclopedic review of well over 500 distinct syndromes, with up-to-date information, complete current bibliographies, and over 140 clinical photographs.
Автор: Panayiotopoulos Название: A Clinical Guide to Epileptic Syndromes and their Treatment ISBN: 1846286433 ISBN-13(EAN): 9781846286438 Издательство: Springer Рейтинг: Цена: 44490 T Наличие на складе: Нет в наличии. Описание: Affecting 4 percent of children and 1-2 percent of the general population, epilepsy is one of the most common neurological disorders. This guide covers various aspects of diagnosis and treatment. It reflects the report of the ILAE classification core group and the progress made in the diagnosis, classification and treatment of the epilepsies.
Автор: Danek Название: Neuroacanthocytosis Syndromes ISBN: 1402028970 ISBN-13(EAN): 9781402028977 Издательство: Springer Рейтинг: Цена: 105740 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes.
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