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Coffin Siris Syndrome
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Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Coffin Siris Syndrome by : Aamir Al Mosawi
Download or read book Coffin Siris Syndrome written by Aamir Al Mosawi and published by Createspace Independent Publishing Platform. This book was released on 2018-11-22 with total page 56 pages. Available in PDF, EPUB and Kindle. Book excerpt: Coffin Siris syndrome is very rare genetic syndrome.During the 1970s, there were 13 reported patients with Coffin Siris syndrome including three patients reported by Coffin and Siris ,1970; two patients reported by Weiswasser et al ,1973; one patient reported by Mastroiacovo et al ,1977; one patient reported by Tunnessen and colleagues ,1978; one patient reported by Schinzel, 1979; and five patients reported by Carey and Hall ,1978.During the 1980s, there were eighteen reported patients with Coffin Siris syndrome including one patient reported by Ueda et al ,1980; four patients reported by Lucaya et al ,1981, one patient reported by Foasso et al ,1983; two patients reported by Haspeslagh and colleagues, 1984; one patient reported by DeBassio et al and colleagues, 1985; two patients reported by Franceschini et al,1985; one patient reported by Meinecke and colleagues, 1986; two patients reported by Bodurtha et al, 1986; one patient reported by Patel et al ,1987;Alembik et al,1988; and one patient reported by Rogers et al, 1988.During the 1990s, there were twenty four reported patients with Coffin Siris syndrome including one patient reported by Qazi et al, 1990; one patient reported by Burlina and colleagues,1990;two patients reported by Levy and Baraitser,1991; two patient reported by de Jong and Nelson,1992; one patient reported by Bonioli et al ,1995; one patient reported by Imaizumi et al ,1995; twelve patients reported by Swillen et al,1995; one patient reported by Braun-Quentin and colleagues,1996; one patient reported by Suzumura et al ,1996; one patient reported by McPherson et al ,1997; one patient reported by Delvaux and colleagues,1998).During the 2000s, there were thirty four reported patients with Coffin Siris syndrome including one patient reported by McGhee et al ,2000; one patient reported by Dimaculangan et al , 2000; eighteen patients reported by Fleck et al ,2001; one patient reported by Imai et al (2001); Brunetti-Pierri and colleagues,2003; one patient reported by Silvani et al ,2004; one patient reported by Shirakami et al ,2005; one patient reported by Al Mosawi AJ,2006; one patient reported by Kellermayer et al ,2007; one patient reported by Fornet et al ,2007; one patient reported by Baban et al ,2008; one patient reported by Pollono et al ,2009; one patient reported by Coulibaly et al ,2010; one patient reported by Goyal et al ,2010.After 2010, there were eighty reported patients with Coffin Siris syndrome including one patient reported by Bender et al ,2011; three patients reported by Santen GW et al ,2012; five patients reported by Tsurusaki et al , 2012; two patients reported by Tsurusaki et al , 2014; One patient reported by Tzeng et , 2014; forty nine patients reported by Tsurusaki et al , 2014; Nemani et al ,2014; One patient reported byGossai et al ,2015; Seven patients reported by Hempel et al,2016; One patient reported by Sonmez et al ,2016; three patients reported by Zarate et al, 2016; One patient reported by Ozkan et al ,2017; One patient reported by Errichiello et al ,2017; One patient reported by Okamoto et al ,2018; One patient reported by Sweeney et al ,2018; Määttänen et al ,2018; Zhao et al ,2018.THE TOTAL NUMBER OF THE REPORTED PATIENTS WITH COFFIN SIRIS SYNDROME IS 169Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab.The main aim of this book is to describe the second case of this syndrome in Iraq which is also the case number 170 in the world. The book also describes the historic documentation of the syndrome in the literature.
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Book Synopsis Autism Spectrum Disorders by : M. Créteil
Download or read book Autism Spectrum Disorders written by M. Créteil and published by Karger Medical and Scientific Publishers. This book was released on 2015-02-11 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Accurate and exhaustive, this book provides a wide overview of the current knowledge on phenotypes, mechanisms and treatment of autism spectrum disorders. It covers topics on diagnostic issues, comorbid conditions and therapeutic strategies along with a detailed discussion on the actual understanding of the pathophysiology of autism disorders. More specifically, this book reviews in detail the current knowledge on the comorbidity between mental and medical disorders, describes abnormal cognitive and social development and gives a thorough overview on genetic as well as brain imaging abnormalities observed in autism spectrum disorders. In addition, the current literature on environmental risk factors which may provide an explanation for the increased prevalence of autism is being described. The last chapter gives an extensive review of early detection and early therapeutic interventions encompassing psycho-social and pharmacological strategies. Each chapter is easy to read and gives the reader access to the most important information on each topic covered. This book provides innovative reading material for medical students, psychologists, researchers and clinicians who need accurate information on the best available diagnostic and therapeutic strategies as well as on up-to-date research data.
Download or read book Nolan's Shadow written by Timothy Graf and published by Bookbaby. This book was released on 2020-01-25 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Take Nolan's hand as he leads you on a mini adventure of wonder, exploration and discovery. Everyday certainly is an adventure with Nolan.
Author :Christine Roman-Lantzy Publisher :American Foundation for the Blind ISBN 13 :0891288295 Total Pages :225 pages Book Rating :4.8/5 (912 download)
Book Synopsis Cortical Visual Impairment by : Christine Roman-Lantzy
Download or read book Cortical Visual Impairment written by Christine Roman-Lantzy and published by American Foundation for the Blind. This book was released on 2007 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: The current leading cause of visual impairment among children is not a disease or condition of the eyes, but cortical visual impairment (CVI)-also known as cerebral visual impairment-in which visual dysfunction is caused by damage or injury to the brain. The definition, nature, and treatment of CVI are the focus of great concern and widespread debate, and this complex condition poses challenges to professionals and families seeking to support the growth and development of visually impaired children. On the basis of more than 30 years' experience in working with hundreds of children of all ages with CVI, Christine Roman-Lantzy has developed a set of unique assessment tools and systematic, targeted principles whose use has helped children learn to use their vision more effectively. This one-of-a-kind resource provides readers with both a conceptual framework with which to understand working with CVI and concrete strategies to apply directly in their work.
Book Synopsis The Bedside Dysmorphologist by : William Reardon
Download or read book The Bedside Dysmorphologist written by William Reardon and published by Oxford University Press, USA. This book was released on 2015-10-14 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? That question is often quite difficult to answer, and the texts that may aid in diagnosis are highly sophisticated and rather daunting for the practicing pediatrician. The aim of Reardon's new text is to provide a practical solution to this situation.
Book Synopsis Smith's Recognizable Patterns of Human Malformation by : Kenneth Lyons Jones
Download or read book Smith's Recognizable Patterns of Human Malformation written by Kenneth Lyons Jones and published by . This book was released on 1997 with total page 888 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly 5th Edition provides concise but complete information on numerous common and rare disorders that cause human malformation. Includes an outline of the salient features of each condition, as well as material on natural history, etiology, and pathogenesis. The text is accompanied by helpful illustrations and reference lists. Organized to allow for easy access to essential information.
Book Synopsis Atlas of Sellar and Parasellar Lesions by : Gabriel Zada
Download or read book Atlas of Sellar and Parasellar Lesions written by Gabriel Zada and published by Springer. This book was released on 2015-10-27 with total page 514 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents, in a stepwise and interactive fashion, approximately 75 cases that reflect the wide spectrum of pathology encountered in this region. Each case description commences with a concise clinical scenario. High-quality radiologic, laboratory, and histopathologic images depicting the differentiating features of the lesion subtype in question are then presented, and key operative and clinical management pearls are briefly reviewed. The interdisciplinary nature of this easy-to-use color atlas and textbook reflects the fact that the management of patients with sellar and parasellar lesions is itself often interdisciplinary. The format is unique in that no similar interdisciplinary book is available on lesions of this region of the brain. Atlas of Sellar and Parasellar Lesions: Clinical, Imaging, and Pathologic Correlations is of great value for practitioners and trainees in a range of medical specialties, including radiology, neurology, endocriniology, pathology, oncology, radiation oncology, and neurosurgery.
Book Synopsis 30 Day Journal & Tracker by : Health Formation
Download or read book 30 Day Journal & Tracker written by Health Formation and published by . This book was released on 2019-12-28 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: After relentlessly studying the teachings of legendary healers, such as Dr Arnold Ehret and Dr Robert Morse, we set out on a journey of healing ourselves and reversing our very own conditions. Within our group, we were suffering from a range of diverse diseases and conditions, including Heart Disease, Kidney Disease, Diabetes, a variety of Autoimmune Diseases and Leaky Gut. During our healing journeys, we formed a journal that we would use on a daily basis, and this helped us to incorporate all of the lessons and tips that we had learnt and refined along the way - in short, it acted as a check list. It was important to us to not miss out on any knowledge and practices that had served us well. This journal is designed to guide and support you through your own journey with the core healing protocols included within its theme. One of the key conclusions that we reached through our individual journeys was that whether you are a sufferer of Coffin-Siris Syndrome, or any other condition, the same protocol that we used applies. However, dependant on the severity of your Coffin-Siris Syndrome, you may need to follow the protocols for longer, using specific herbs in order to achieve positive results, but you can make your own adjustments as you learn more. The great news is that all information and resources are readily available for personal study and application. Dr Arnold Ehret's books can be downloaded freely if you search for "arnold ehret books pdf". Visit rawfigs.com for Dr Robert Morse videos which can be searched through by keywords via the search bar. With this journal and your newly acquired knowledge, we trust that you will also soon start to experience the positive results that we did, along with the many others that send us regular positive feedback. We wish you all the best. The Health Formation Team
Book Synopsis Challenging Cases in Dermatology Volume 2 by : Mohammad Ali El-Darouti
Download or read book Challenging Cases in Dermatology Volume 2 written by Mohammad Ali El-Darouti and published by Springer Nature. This book was released on 2019-08-28 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book comprehensively covers a range of challenging cases in dermatology. It provides easy to follow guidance on how to successfully diagnose and treat a range of unusual diseases with a range of figures with informative legends and clinical data focused exercises to enable the reader to gain confidence and a deep understanding of why the diagnostic and treatment procedures taken in each case were chosen. Cases covered include follicular disorders, melanocytic diseases, vascular tumors, cutaneous lymphomas, and bullous diseases. This second volume of Challenging Cases in Dermatology systematically describes a range of unusual and rare clinical cases in dermatology. It is therefore a valuable resource for all trainee and practising dermatologists looking to further develop their knowledge and understanding of how to successfully diagnose and treat rare and challenging diseases.
Book Synopsis Behavioural Phenotypes by : Gregory O'Brien
Download or read book Behavioural Phenotypes written by Gregory O'Brien and published by Cambridge University Press. This book was released on 1995 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: A timely distillation of current thinking on the presentation of behavioural disorders and their origins.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Book Synopsis An Atlas of Clinical Syndromes by : Hans-Rudolf Wiedemann
Download or read book An Atlas of Clinical Syndromes written by Hans-Rudolf Wiedemann and published by Mosby Elsevier Health Science. This book was released on 1992 with total page 550 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Hypermobility of Joints by : Rodney Grahame
Download or read book Hypermobility of Joints written by Rodney Grahame and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Joint hypermobility, joint laxity or "double-jointedness" is no longer regarded as just a quaint clinical entity, but has gained recognition as a feature common to a heterogeneous group of generalized hereditary connective tissue disorders. This monograph examines the scientific basis, clinical features and treatment of this syndrome. The second edition has been thoroughly updated, with new contributions to cover in depth three areas in which new scientific advances have been made: biochemistry, genetics, and biomechanics. The case histories make fascinating reading, and the comprehensive coverage of the rarer hereditary disorders provides a valuable reference. From the reviews of the first edition: "This little book deals with a somewhat neglected subject and will prove useful in a number of ways." British Journal of Plastic Surgery #1 "This is a delightful book full of stimulating ideas, by three authors who have pooled their thoughts and the results of their studies." Journal of the Royal Society of Medicine #2
Book Synopsis Sanjad Sakati Richardson Kirk Syndrome by : Aamir Al Mosawi
Download or read book Sanjad Sakati Richardson Kirk Syndrome written by Aamir Al Mosawi and published by Lulu.com. This book was released on 2019-01-05 with total page 50 pages. Available in PDF, EPUB and Kindle. Book excerpt: The syndrome of severe growth retardation , mental retardation, and chronic hypocalcemia caused by hypoparathyroidism was first reported by Sanjad, Sakati, and Abu-Osba in 1988.However, the syndrome was first fully described in 1990 by Ricky J Richardson from the Sick Children Hospital of Great Ormond Street in London, and Jeremy MW Kirk from St Bartholomew's Hospital in London.The total number of the reported patients with Sanjad-Sakati-Richardson-Kirk syndrome is 103.Sanjad-Sakati-Richardson-Kirk syndrome has not been reported before in Iraq. The main aim of this book is to report the first case of this syndrome in Iraq which is the case number 104 in the world.
Book Synopsis Pediatric Nephrology by : Ellis D. Avner
Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.
