Aniridia And Wagr Syndrome

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Aniridia and WAGR Syndrome

Author : Jill Ann Nerby
Publisher : Oxford University Press
ISBN 13 : 0199741913
Total Pages : 208 pages
Book Rating : 4.1/5 (997 download)

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Book Synopsis Aniridia and WAGR Syndrome by : Jill Ann Nerby

Download or read book Aniridia and WAGR Syndrome written by Jill Ann Nerby and published by Oxford University Press. This book was released on 2010-04-07 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: Our hope is to enlighten and encourage those affected by aniridia and WAGR Syndrome by providing patient support and medical information. There is information to inform parents, teachers, doctors, employers, and the public about aniridia and what it is like to live with it. Several renowned doctors contribute medical chapters. Personal experiences from individuals with aniridia and parents with children with aniridia provide encouragement. Contact information for Aniridia Foundation International (AFI) is included. When a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome. Until recently, however, there was very little information available on aniridia and WAGR Syndrome. Even now, not all of the available information is current or correct, so that when a child is diagnosed with aniridia, the parents often find or are given information that is confusing and even frightening. We created this book to help those families see that they are not alone, and there are a lot of answers and a great deal of hope. It contains information about aniridia and WAGR Syndrome for parents, other family members, friends, teachers, doctors, and employers. We have been very fortunate to have several renowned doctors contribute current and comprehensive medical information that will help to provide concrete answers to basic questions and demystify these conditions. The book has many personal stories from individuals and parents that will help to give a more complete picture of what it is like to live with aniridia and WAGR Syndrome and provide encouragement and comfort. It also contains information about where to go for more answers and support, including the Aniridia Foundation International (AFI), http://www.aniridia.net, a non-profit organization created by one of the authors, Jill Nerby. We hope that you will read this book and join us in creating a better future for those with aniridia and WAGR Syndrome.

Syndromes: Rapid Recognition and Perioperative Implications

Author : Bruno Bissonnette
Publisher : McGraw-Hill Education / Medical
ISBN 13 :
Total Pages : 988 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Syndromes: Rapid Recognition and Perioperative Implications by : Bruno Bissonnette

Download or read book Syndromes: Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.

Aniridia

Author : Mohit Parekh
Publisher : Springer
ISBN 13 : 3319197797
Total Pages : 195 pages
Book Rating : 4.3/5 (191 download)

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Book Synopsis Aniridia by : Mohit Parekh

Download or read book Aniridia written by Mohit Parekh and published by Springer. This book was released on 2015-08-25 with total page 195 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of this book is to highlight the latest findings in Aniridia research. Aniridia, meaning “without iris”, is a rare genetic disorder affecting vision, characterized by the incomplete formation of the iris (the coloured part of the eye that surrounds the black pupil). It may also cause other segments of the eye to be under-developed such as the optic nerve and the macula (the central part of the retina). Aniridia and associated conditions affect individuals differently. So while some affected people are partially sighted or blind, others may have near normal sight. Aniridia is congenital (present at birth) and is caused by a dysfunction of the PAX6 gene, situated on the 11th chromosome that causes the premature cessation of eye development. Aniridia affects between 1:40,000 to 1:100,000 people, and affects males and females equally. People with Aniridia may also experience secondary conditions such as Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.

Cassidy and Allanson's Management of Genetic Syndromes

Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)

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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.

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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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.

Ashcraft's Pediatric Surgery E-Book

Author : George W. Holcomb
Publisher : Elsevier Health Sciences
ISBN 13 : 0323187366
Total Pages : 1191 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Ashcraft's Pediatric Surgery E-Book by : George W. Holcomb

Download or read book Ashcraft's Pediatric Surgery E-Book written by George W. Holcomb and published by Elsevier Health Sciences. This book was released on 2014-01-31 with total page 1191 pages. Available in PDF, EPUB and Kindle. Book excerpt: Acclaimed for its unsurpassed readability and manageable scope, Ashcraft’s Pediatric Surgery presents authoritative, practical guidance on treating the entire range of general surgical and urological problems in infants, children, and adolescents. State-of-the-art, expert coverage equips you to implement all the latest approaches and achieve optimal outcomes for all of your patients. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Make the most effective use of today’s best open and minimally invasive techniques, including single-site umbilical laparoscopic surgery, with guidance from internationally recognized experts in the field. Focus on evidence-based treatments and outcomes to apply today’s best practices. Stay current with timely topics thanks to brand-new chapters on Choledochal Cyst and Gallbladder Disease, Tissue Engineering, and Ethics in Pediatric Surgery, plus comprehensive updates throughout. Hone and expand your surgical skills by watching videos of minimally invasive procedures for recto urethral fistula, biliary atresia, laparoscopic splenectomy, uterine horn, and more. Grasp the visual nuances of surgery from over 1,000 images depicting today’s best surgical practices.

Genetic Diseases of the Eye

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi

Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.

Ocular Surface Disease: Cornea, Conjunctiva and Tear Film

Author : Edward J Holland
Publisher : Elsevier Health Sciences
ISBN 13 : 1455728764
Total Pages : 474 pages
Book Rating : 4.4/5 (557 download)

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Book Synopsis Ocular Surface Disease: Cornea, Conjunctiva and Tear Film by : Edward J Holland

Download or read book Ocular Surface Disease: Cornea, Conjunctiva and Tear Film written by Edward J Holland and published by Elsevier Health Sciences. This book was released on 2013-05-17 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ocular Surface Disease: Cornea, Conjunctiva and Tear Film incorporates current research and the latest management strategies as well as classification systems and treatment paradigms for all forms of ocular surface disease. This is the first comprehensive resource that helps you to meet ocular surface disease challenges effectively using today's best medical and surgical approaches. Get the complete, evidence-based guidance you need to provide optimal care for your patients with ocular surface disease. Implement the latest drug treatments and surgical interventions to provide better outcomes with fewer complications. Hone and expand your surgical skills by watching videos of leading experts performing advanced procedures including ocular surface transplantation techniques; amniotic membrane transplantation; pterygium surgery; lamellar keratoplasty (DALK) in ocular surface disease; and keratoprosthesis surgery. Visualize how to proceed by reviewing detailed, full-color images and consulting new classification systems and treatment paradigms for mild to severe forms of ocular surface disease. Take it with you anywhere! Access the full text, downloadable image library, video clips, and more online at expertconsult.com.

Genetics in Ophthalmology

Author : B. Wissinger
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805575785
Total Pages : 230 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Genetics in Ophthalmology by : B. Wissinger

Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Renal Tumors of Childhood

Author : Kathy Pritchard-Jones
Publisher : Springer
ISBN 13 : 9783662519189
Total Pages : 0 pages
Book Rating : 4.5/5 (191 download)

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Book Synopsis Renal Tumors of Childhood by : Kathy Pritchard-Jones

Download or read book Renal Tumors of Childhood written by Kathy Pritchard-Jones and published by Springer. This book was released on 2016-10-06 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the biological basis of renal tumors in childhood and the clinical approaches to their treatment. Recent advances in our understanding of the molecular genetics of Wilms and other renal tumors are placed in their clinical context, including the differing treatment approaches of immediate surgery or pre-operative chemotherapy. The challenges in applying this knowledge to improve risk stratification and to incorporate biologically targeted agents into front-line therapy are discussed. All of the authors are experts from Europe and North America and the book has been written specifically as an easy reference for the practising clinician and the research scientist. It lays the basis for understanding the future direction of clinical and translational research to improve outcomes in patients with childhood renal tumors and will prove indispensable for those treating or researching into these diseases.

Genetics of Monogenic and Syndromic Obesity

Author :
Publisher : Academic Press
ISBN 13 : 0128047429
Total Pages : 315 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetics of Monogenic and Syndromic Obesity by :

Download or read book Genetics of Monogenic and Syndromic Obesity written by and published by Academic Press. This book was released on 2016-06-02 with total page 315 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Monogenic and Syndromic Obesity is the latest volume in the Progress in Molecular Biology and Translational Science series. - Contains contributions from leading authorities - Informs and updates on all the latest developments in the field

Handbook of Pediatric Surgery

Author : Chandrasen K. Sinha
Publisher : Springer Science & Business Media
ISBN 13 : 1848821328
Total Pages : 464 pages
Book Rating : 4.8/5 (488 download)

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Book Synopsis Handbook of Pediatric Surgery by : Chandrasen K. Sinha

Download or read book Handbook of Pediatric Surgery written by Chandrasen K. Sinha and published by Springer Science & Business Media. This book was released on 2010-06-25 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although pediatric surgery is a distinct and evolving specialty, it still remains an integral part of most general surgical and paediatric medical practice. Nevertheless, surgery in children does differ from adult practice in various fundamental ways, and there are key physiological and anatomical differences that constantly need underlining. Progress and improvement in outcome has also been rapid but it is sometimes difficult for practitioners to keep themselves up-to-date with the usual surgical or paediatric text books. This book will give a concise overview of all important topics and is designed to provide information in order to recognise the common surgical conditions; namely typical symptoms and signs, investigation and then treatment management. It will also provide an anatomical and physiological background to aid understanding, in addition to emphasising logical, and where possible, evidence-based practice by the use of flow charts, tables and algorithms. Authored by an international range of leading contributors, this is the first book of its kind to offer comprehensive coverage to this topic in a quick reference, pocket-book format.

Ferri's Differential Diagnosis

Author : Fred F. Ferri, MD, FACP
Publisher : Elsevier Health Sciences
ISBN 13 : 0323076998
Total Pages : 572 pages
Book Rating : 4.3/5 (23 download)

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Book Synopsis Ferri's Differential Diagnosis by : Fred F. Ferri, MD, FACP

Download or read book Ferri's Differential Diagnosis written by Fred F. Ferri, MD, FACP and published by Elsevier Health Sciences. This book was released on 2010-08-26 with total page 572 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ferri's Differential Diagnosis is a quick reference to the differential diagnosis, etiology, and classification of clinical disorders, signs, and symptoms. Dr. Fred F. Ferri-the respected best-selling author-presents over 1000 signs, symptoms, and clinical disorders. Comprehensive yet small enough to fit in your pocket, this portable guide is a rapid resource for everything you see in daily practice-from abdominal distension to Zenker's Diverticulum. Quickly locate the information you need with an organization that presents differential diagnosis by sign and symptom as well as disorder. Easily identify the likeliest diagnosis through diagnostic possibilities listed in order of incidence. Tap into the authoritative guidance of Dr. Fred Ferri, the respected expert responsible for best-selling titles such as Ferri's Clinical Advisor, Ferri's Fast Facts, and Practical Guide to the Care of the Medical Patient. Apply the differential diagnosis of over 100 new signs, symptoms, and clinical disorders.

Essentials of Anesthesia for Infants and Neonates

Author : Mary Ellen McCann
Publisher : Cambridge University Press
ISBN 13 : 1107069777
Total Pages : 465 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Essentials of Anesthesia for Infants and Neonates by : Mary Ellen McCann

Download or read book Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.

Essentials of Surgical Pediatric Pathology

Author : Marta C. Cohen
Publisher : Cambridge University Press
ISBN 13 : 1316124150
Total Pages : 1225 pages
Book Rating : 4.3/5 (161 download)

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Book Synopsis Essentials of Surgical Pediatric Pathology by : Marta C. Cohen

Download or read book Essentials of Surgical Pediatric Pathology written by Marta C. Cohen and published by Cambridge University Press. This book was released on 2015-02-05 with total page 1225 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essentials of Surgical Pediatric Pathology is a clear and practical yet comprehensive guide for trainee pediatric pathologists and non-pediatric pathologists. Each chapter corresponds to one of the main subspecialties, such as dermatopathology, head and neck pathology, and system pathology. Practical guidance is given on handling pediatric specimens and the authors highlight the ways in which common conditions present differently in adults and children. Other chapters cover conditions typical of childhood, including soft tissue tumors and blue round cell tumors. The chapters begin with a brief clinical presentation, followed by a clear macroscopical and histological description of the principal pathologies seen in children. Up-to-date genetic and immunohistochemical information is provided, and the book includes hundreds of high-quality color images. Written and edited by leading international experts in the field, this is an essential resource for trainee pediatric pathologists, as well as general pathologists who may encounter pediatric cases.

The Neuroscience of Autism Spectrum Disorders

Author : Joseph D. Buxbaum
Publisher : Academic Press
ISBN 13 : 012391924X
Total Pages : 494 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis The Neuroscience of Autism Spectrum Disorders by : Joseph D. Buxbaum

Download or read book The Neuroscience of Autism Spectrum Disorders written by Joseph D. Buxbaum and published by Academic Press. This book was released on 2012-10-25 with total page 494 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism is no longer considered a rare disease, and the Center for Disease Control now estimates that upwards of 730,000 children in the US struggle with this isolating brain disorder. New research is leading to greater understanding of and ability to treat the disorder at an earlier age. It is hoped that further genetic and imaging studies will lead to biologically based diagnostic techniques that could help speed detection and allow early, more effective intervention. Edited by two leaders in the field, this volume offers a current survey and synthesis of the most important findings of the neuroscience behind autism of the past 20 years. With chapters authored by experts in each topic, the volume explores etiology, neuropathology, imaging, and pathways/models. Offering a broad background of ASDs with a unique focus on neurobiology, the volume offers more than the others on the market with a strictly clinical focus or a single authored perspective that fails to offer expert, comprehensive coverage. Researchers and graduate students alike with an interest in developmental disorders and autism will benefit, as will autism specialists across psychology and medicine looking to expand their expertise. Uniquely explores ASDs from a neurobiological angle, looking to uncover the molecular/cellular basis rather than to merely catalog the commonly used behavioral interventions Comprehensive coverage synthesizes widely dispersed research, serving as one-stop shopping for neurodevelopmental disorder researchers and autism specialists Edited work with chapters authored by leaders in the field around the globe - the broadest, most expert coverage available

Genetics and Genomics of Eye Disease

Author : Xiaoyi Raymond Gao
Publisher : Academic Press
ISBN 13 : 0128167270
Total Pages : 386 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Genetics and Genomics of Eye Disease by : Xiaoyi Raymond Gao

Download or read book Genetics and Genomics of Eye Disease written by Xiaoyi Raymond Gao and published by Academic Press. This book was released on 2019-09-12 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling