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: 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 Название: Neuroacanthocytosis Syndromes II ISBN: 3642090826 ISBN-13(EAN): 9783642090820 Издательство: Springer Рейтинг: Цена: 127450 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: The latest research regarding the neurodegenerative conditions known as neuroacanthocytosis will be found in this book. In vitro studies have identified potential protein interactions, and work on erythrocyte membranes suggests mechanisms for the generation of acanthocytes.
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: Cassidy Название: Management of Genetic Syndromes. 3 ed. 2010 ISBN: 0470191414 ISBN-13(EAN): 9780470191415 Издательство: Wiley Рейтинг: Цена: 121920 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: The bestselling guide to the medical management of common genetic syndromes ?€”now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled colle
Автор: Lerman, Steward & Cote Название: Manual of Pediatric Anesthesia, 6th EditionWith an Index of Pediatric Syndromes ISBN: 1437709885 ISBN-13(EAN): 9781437709889 Издательство: Elsevier Science Рейтинг: Цена: 38400 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: Summarizes the principles of pediatric anesthesia and details important management considerations for a wide variety of conditions. This title provides coverage ranging from chronic and acute pain through the pathophysiology of surgical disease to endoscopic procedures.
Автор: Barton Название: The Neurological Manifestations of Pediatric Infectious Diseases and Immunodeficiency Syndromes ISBN: 1588299678 ISBN-13(EAN): 9781588299673 Издательство: Springer Рейтинг: Цена: 138580 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: In this concise book, an international panel of experts provide a succinct, up-to-date, evidence-based reference to the neurological consequences of infectious diseases and immunodeficiency syndromes in children in one readily accessible volume.
Автор: Hennekam, Raoul; Allanson, Judith; Krantz, Ian Название: Gorlin`s Syndromes of the Head and Neck ISBN: 0195307909 ISBN-13(EAN): 9780195307900 Издательство: Oxford Academ Рейтинг: Цена: 140950 T Наличие на складе: Поставка под заказ. Описание: This classic text covers over 700 different genetic syndromes involving the head and neck, and has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.
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.