Congenital Diseases and Syndromes
Congenital Diseases and Syndromes

Author: Jarrah Ali Al-Tubaikh

Publisher: Springer Science & Business Media

Published: 2009-06-13

Total Pages: 210

ISBN-13: 3642001602

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Radiology to me is an art more than a science; an art of imaging the human body, and an art of extracting information from an image. Radiology today is a vital specialty that almost no other medical specialty can work without. Congenital anomalies and syndromes are complex subjects in all medical specialties. They require knowledge of the normal anatomy and of the embryological basis of organogenesis. The importance of recognizing a congenital malformation or an anomaly, which can be the tip of an iceberg of a more complex syndrome, is to prevent future manifestations of a s- drome if possible or to reduce its severity. Due to this concept, I had an interest in studying how to use the radiological modalities in diagnosing congenital malfor- tions as early as possible. Although radiology offers very powerful tools for diag- sis, the basics of medicine are still the main tools to be used for diagnosis. History, observation, clinical examination, and laboratory investigations are essential elements for diagnosis, which need to be used before radiology investigations are initiated. The idea of this book is based on a simple principle: it is to link radiology to these basic medical tools. The book is written for junior radiologists, radiology students, and doctors interested in congenital malformations and syndromes in any specialty. Each disease is represented with a de? nition, description, etiology, diagnostic cri- ria, main symptoms, and its typical diagnostic radiological features on the modern radiological modalities available today.

Genetic Syndromes
Genetic Syndromes

Author: Nima Rezaei

Publisher:

Published: 2019

Total Pages: 8970

ISBN-13: 9783319668161

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This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .

Essentials of Glycobiology
Essentials of Glycobiology

Author: Ajit Varki

Publisher: CSHL Press

Published: 1999

Total Pages: 694

ISBN-13: 9780879696818

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Sugar chains (glycans) are often attached to proteins and lipids and have multiple roles in the organization and function of all organisms. "Essentials of Glycobiology" describes their biogenesis and function and offers a useful gateway to the understanding of glycans.

Cardiovascular Disability
Cardiovascular Disability

Author: Institute of Medicine

Publisher: National Academies Press

Published: 2010-12-04

Total Pages: 304

ISBN-13: 030915698X

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The Social Security Administration (SSA) uses a screening tool called the Listing of Impairments to identify claimants who are so severely impaired that they cannot work at all and thus immediately qualify for benefits. In this report, the IOM makes several recommendations for improving SSA's capacity to determine disability benefits more quickly and efficiently using the Listings.

Congenital Bleeding Disorders
Congenital Bleeding Disorders

Author: Akbar Dorgalaleh

Publisher: Springer

Published: 2018-07-25

Total Pages: 397

ISBN-13: 3319767232

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This book describes in detail the clinical presentation, diagnosis, and management of a wide range of congenital bleeding disorders. It will assist readers in overcoming the significant challenges involved in clinical and laboratory diagnosis and in providing effective clinical care that makes optimal use of new products, including recombinant factor concentrate. The coverage ranges from hemophilia A and B and von Willebrand disease to rare bleeding disorders such as congenital factor V, factor X, factor XI, and factor XIII deficiency and inherited platelet function disorders. The exceptional attention to rarer conditions is of particular importance given the considerable risk of overlooking them during diagnosis, with potential consequences for disease-related morbidity and mortality. The authors are acknowledged specialists in the field from across the world who have particular expertise in the disorder that they discuss. The book will be of value to hematologists, oncologists, pediatricians, laboratory specialists and technicians, general physicians, and trainees.

Genetic Disorders, Syndromology and Prenatal Diagnosis
Genetic Disorders, Syndromology and Prenatal Diagnosis

Author: T.V.N. Persaud

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 257

ISBN-13: 9401166692

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Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

Color Atlas of Congenital Malformation Syndromes
Color Atlas of Congenital Malformation Syndromes

Author: Michael Baraitser

Publisher: Mosby Elsevier Health Science

Published: 1996

Total Pages: 264

ISBN-13:

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The vast amount of genetic research has added to the list of clinically recognized syndromes, identification of which can cause enormous problems for those non-specialist geneticists. This book provides a colour atlas, covering these syndromes. The concise, authoritative text is combined with over 900 full-colour illustrations, providing a visual aid in the pattern recognition of clinical features.

Medical Genetics
Medical Genetics

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 385

ISBN-13: 0071819282

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Diagnosis and Management of Adult Congenital Heart Disease E-Book
Diagnosis and Management of Adult Congenital Heart Disease E-Book

Author: Michael A. Gatzoulis

Publisher: Elsevier Health Sciences

Published: 2017-02-02

Total Pages: 739

ISBN-13: 0702069310

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Designed to meet the needs of clinicians working with adults with congenital heart disease, Diagnosis and Management of Adult Congenital Heart Disease , by Drs. Michael A. Gatzoulis, Gary D. Webb, and Piers E. F. Daubeney, offers essential guidance on the anatomical issues, clinical presentation, diagnosis, and treatment options available to practitioners today. This latest edition features completely updated content, including new information for nurses and nurse practitioners who, now more than ever, are playing an important role in the care of adults with CHD. You'll also access four new chapters, illustrated congenital defects, coverage of long-term outcomes, and much more. - Drs. Gatzoulis, Webb, and Daubeney lead a team of experts ideally positioned to provide state-of-the-art global coverage of this increasingly important topic. - Each disease-oriented chapter is written to a highly structured template and provides key information on incidence, genetics, morphology, presentation, investigation and imaging, and treatment and intervention. - Congenital defects are illustrated with full-color line drawings and by the appropriate imaging modality (for example, EKG, x-ray, echocardiogram, MRI, CT, ). - Provides coverage of long-term outcomes, including the management of pregnant patients and patients undergoing non-cardiac surgery. - Features the addition of four new chapters: A Historic Perspective; Quality of Life in Patients with Pulmonary Hypertension; Psychosocial Issues in ACHD; Supportive and Palliative Care for End-Stage ACHD.