A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it ...

The Oxford Handbook of Genetics provides an essential overview of this complex subject, distilled into an accessible format for primary care practitioners and junior doctors. It can be used as an aide memoire to gain advice on dealing with individual patients during the working day, or as a reference text to be read over time. Combining the expertise of leading geneticists with the knowledge of experienced general practitioners, the handbook covers the genetics core curriculum as ...

Movement disorders - ranging from parkinsonism to a variety of hyperkinetic disorders, such as tremors, dystonic, chorea and myoclonus - can be the presenting or a prominent clinical feature in a broad spectrum of systemic conditions such as endocrine and metabolic disorders, autoimmune diseases, infections, intoxications, tumors and pareneoplastic syndromes, stroke and multiple sclerosis. The resulting clinical scenarios can be confusing and difficult to interpret by internists, generalis...

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 ...

Stiehm's Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm's Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecular abnormalities, newborn screening, and current therapies. - Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients - Covers both cl...

Multiple sclerosis is the most common debilitating neurological disease in people under the age of forty in the developed world. Many publications cover medical and clinical approaches to the disease; however, The Biology of Multiple Sclerosis provides a clear and concise up-to-date overview of the scientific literature on the various theories of MS pathogenesis. Covering the main elements of scientific research into multiple sclerosis, the book contains chapters on the neuropathology of t...

This issue of Sleep Medicine Clinics will be Guest Edited by Jim Barker, MD CPE, FACP, FCCP, FAASM Shirley Fong Jones, MD, FCCP of Scott and White Memorial Hospital and will focus on Obstructive Sleep Apnea. Article topics include Weight loss, Pharmacologic therapy of obstructive sleep apnea, Alternative Therapies, Masks and Interfaces, Outcomes of treatment of hypersomnia for OSA, Effects of therapy on CV outcomes, Complex Sleep Apnea, Oral appliances, Cost of therapy, Medicolegal aspects...

Primary Sjögren's syndrome is a rheumatic disease affecting around 0.1-0.2% of the adult female population and can result in significant disability without adequate therapy. Diagnosis is often delayed and suggested therapies may not be optimal, and a multidisciplinary approach that includes rheumatologists, ophthalmologists, oral medicine physicians, and others is important to patient management. This volume summarises current understanding of the pathogenesis of the disease, including adv...

Stillbirth remains a major and tragic obstetric complicationThe number of deaths due to stillbirth are greater than those due to preterm birth and sudden infant death syndrome combined.Stillbirth: Prediction, Prevention and Management provides a comprehensive guide to the topic of stillbirth. Distilling recent groundbreaking research, expert authors consider:The epidemiology of stillbirth throughout the worldThe various poss...

Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and o...

Practical Pediatric Endocrinology in a Limited Resource Setting provides a guide for managing pediatric endocrine problems in a limited resource setting, together with an outline of the bases for these disorders. The book outlines a plan for coming to a likely diagnosis in situations where resources are constrained, and suggests ways to access more sophisticated technologies for diagnostic confirmation and extension of available tools. Further extending and complementing each chapter is a ...

- NEW! Updated evidence-based content reflects the latest national and international quality standards regarding various cancer types, major drug and non-drug treatments, treatment protocols, and approaches to symptom management. - NEW! Nursing Practice Considerations section incorporates information on communication, cultural considerations, ethical considerations, safe and quality care, evidence-based practice, patient navigation, and patient education. - NEW! 17 new chapters cover topic...