December 5, 2020

Download Ebook Free The 22q11.2 Chromosome Deletion Syndrome

Childhood panic disorder

Childhood panic disorder
Author : Sics Editore
Publisher : SICS Editore
Release Date : 2014-10-01
Category : Medical
Total pages :129
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If a child has inexplicable somatic symptoms that fit those of panic disorder, consultation with a child psychiatrist is imperative. An early as possible diagnosis is essential to prevent the child from adopting a role of illness within the family or larger social network. An early diagnosis supports the development of the child’s personality.

Genomic Disorders

Genomic Disorders
Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Release Date : 2007-11-10
Category : Medical
Total pages :426
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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Genetics of Developmental Disabilities

Genetics of Developmental Disabilities
Author : Merlin Butler,F. John Meaney
Publisher : CRC Press
Release Date : 2019-06-13
Category : Medical
Total pages :886
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Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition
Author : Donna Cutler-Landsman
Publisher : Plural Publishing
Release Date : 2020-01-01
Category : Medical
Total pages :387
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The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded content, as well as new contributions from some of the most highly regarded experts in the field, Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition is an essential resource for teachers, parents, physicians, and therapists of children with this complicated learning profile. To first address the scientific information that is needed to understand the syndrome and the implications of current research, expert contributors present the results of current studies involving brain abnormalities, language/learning profiles, medical needs, and psychiatric and behavioral difficulties. These valuable chapters are written in a reader-friendly manner to help parents, professionals, and teachers gain useful and necessary comprehension of the unique characteristics of the 22q11.2DS population. The second part of the book is a practical guide to educating a child with 22q11.2DS from birth through adulthood. Divided into the various stages of development from preschool to adulthood, it includes information regarding the necessary tests special education teams should run, typical difficulties associated with learning, changes that occur with ability as the child matures, and behavioral problems in the school setting. New to the Third Edition: * Addition of recent research studies since 2012 * Current research and treatment options for mental health issues * Expanded and enhanced coverage of bullying and the social/emotional aspects of the syndrome * Discussion on the possibility of cognitive decline and how to address this at school * More information on Common Core State Standards and standardized testing for children with disabilities, including a section on understanding test scores * Homeschooling and other placement alternatives * Executive functioning deficits, their impact in the classroom, and approaches to use * Dealing with problem behaviors such as withdrawal and school refusal * Cognitive remediation and new treatment strategies * New math and reading remediation techniques * New options for programming and post-secondary placements

DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition

DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition
Author : Anonim
Publisher : ScholarlyEditions
Release Date : 2012-01-09
Category : Medical
Total pages :17
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DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about DiGeorge Syndrome in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

22q11 DELETION SYNDROME IN IRELAND U2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINIC.

22q11 DELETION SYNDROME IN IRELAND U2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINIC.
Author : Anonim
Publisher : Unknown
Release Date : 2017
Category :
Total pages :129
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22q11 DELETION SYNDROME IN IRELAND u2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINICS. McCormacku00b9, D.Orru00b2, F.McNicholasu00b3, R. Leahyu2074, S. Kelleheru00b9u00b9Department of General/Developmental Paediatrics, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu00b2Department of Plastic Surgery, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu00b3Department of Child Psychiatry, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu2074Department of Immunology, Our Ladyu2019s Childrenu2019s Hospital Crumlin, DublinBackground22q11 Deletion Syndrome is the most common microdeletion syndrome in humans, with a prevalence of 1 in 2000-4000u00b9. Medical care for this population is frequently fragmented, a dedicated clinic has been shown in other centres to be associated with reduced morbidity and improved quality of lifeu00b3. A need for this clinic was identified in Ireland.AimOur aim is to establish if a dedicated clinic can identify and address unmet needs within this population.MethodThe intake forms and letters of all new referrals seen in the first six months were reviewed. Previous specialty input along with referrals made and investigations requested were recorded. Parents reported unmet needs and wishes were also recorded.ResultsIn the first 6 months of the 22q11DS Clinic 17 children were assessed. The attendance rate was 94%. Children attended from 8 counties around Ireland, aged from 8 months to 14 years. 18% of children had an affected relative(s). Parents reported a range of unmet needs and there was huge variation in previous access to services. Following their first assessment the following were requested: Blood testing (71%), renal ultrasound (29%), and specialist referrals (53%), most commonly to cardiology, immunology and dental. 29% of children had their appointment co-ordinated with another specialist on the same day.ConclusionWe have identified areas of unmet need in this dedicated clinic. It is hoped that we can improve care co-ordination further by engaging other specialists to run clinics on the same day and appoint a nurse specialist for this clinic.u00b9 McDonald-McGinn and Sullivan. Chromosome 22q11.2 Deletion Syndrome. Medicine. 90(1):1-18, JAN 2011u00b2Max Appeal! Consensus Document Development Committee. Consensus Document on 22q11 Deletion Syndrome (22q11DS). 2017u00b3 Alex Habel, Beverly Tsai-Goodman et al. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014; 173(6): 757u2013765.

Etiology and Morphogenesis of Congenital Heart Disease

Etiology and Morphogenesis of Congenital Heart Disease
Author : Edward Clark,Atsuyoshi Takao,Makoto Nakazawa
Publisher : Wiley-Blackwell
Release Date : 2000-12-27
Category : Medical
Total pages :397
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This book discusses past and present research on the etiology and morphogenesis of congenital heart disease, from the molecular level of genotype to the outward physical manifestation of the patient's symptoms. In eight main sections and 67 chapters, the genetic, symmetry and molecular interaction of the early stages of heart formation are described: structural formation and external factors affecting form and function are explored and specific syndromes are analyzed.

Psychiatric Genetics

Psychiatric Genetics
Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
Publisher : American Psychiatric Pub
Release Date : 2008
Category : Medical
Total pages :323
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"The book first presents a framework for understanding and critically evaluating psychiatric genetic research literature, then provides guidelines for genetic counseling. Subsequent chapters summarize genetic aspects of major psychiatric conditions - as well as neuropsychiatric manifestations of other genetic disorders. Risk/benefit considerations related to medication use during pregnancy are then presented. Coverage of ethical, legal, and social implications illustrates the dilemmas that arise with advances in genetic research. Whether used as a clinical guide, reference, or ancillary text, Psychiatric Genetics provides the most up-to-date source on the impact of this growing field on everyday psychiatric practice."--BOOK JACKET.

Autism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders
Author : Robin L. Hansen,Sally J. Rogers
Publisher : American Psychiatric Pub
Release Date : 2013
Category : Medical
Total pages :306
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Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as most of the chapter authors, are faculty or former trainees at the prestigious Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis, a collaborative international research center committed to the awareness, understanding, prevention, care, and cure of neurodevelopmental disorders, including autism spectrum disorders, ADHD, learning disorders, and more. Each chapter presents signs and symptoms; epidemiology and etiology; diagnostic approaches; evidence based interventions; and reviews of promising research. By focusing on the range of neurodevelopmental disorders commonly seen and managed by both primary and subspecialist health care professionals. Autism and Other Neurodevelopmental Disorders explains cutting-edge research and advances in clinical care, and assembles them into a single, indispensable volume.

Human Chromosomes

Human Chromosomes
Author : Orlando J. Miller,Eeva Therman
Publisher : Springer Science & Business Media
Release Date : 2011-06-28
Category : Medical
Total pages :501
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The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

Thymus Gland Pathology

Thymus Gland Pathology
Author : Corrado Lavini,Cesar A. Moran,Uliano Morandi,Rudolf Schoenhuber
Publisher : Springer Science & Business Media
Release Date : 2009-05-08
Category : Medical
Total pages :274
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The thymus is a gland that over the last two centuries has generated great awareness not only from the anatomical perspective but also for the physiological and pat- logical roles it plays in many disease processes. Prior to the early studies on its th anatomy and physiology in the 18 century, the thymus was believed to perform - usual and curious functions such as purification of the nervous system, providing a protective cushion for the vasculature of the superior mediastinum, fetal nouri- ment, or more spiritual roles such as being the seat of the soul, among others. D- th ing the 19 century important anatomical/physiological studies took place focusing on the role of the thymus in pathological conditions. However, it was not until the th middle of the 19 century that a more comprehensive analysis of the role of the thymic gland and its role in pathogenesis began to emerge. Currently, while the knowledge gained on the diverse aspects of the thymic gland has furthered our understanding of its role in a gamut of processes, more knowledge is still being sought, and by no means is a full understanding of the gland’s physi- ogy and pathology complete. Different aspects, including its purported endocrine function, its association with other autoimmune diseases like multiple sclerosis, rheumatoid arthritis, and lupus erythematosus, among others, are under evaluation and research.

Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

Health Care for People with Intellectual and Developmental Disabilities across the Lifespan
Author : I. Leslie Rubin,Joav Merrick,Donald E. Greydanus,Dilip R. Patel
Publisher : Springer
Release Date : 2016-04-25
Category : Medical
Total pages :2307
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This book provides a broad overview of quality health care for people with intellectual and developmental disabilities (IDD). It focuses on providing the reader a practical approach to dealing with the health and well-being of people with IDD in general terms as well as in dealing with specific conditions. In addition, it offers the reader a perspective from many different points of view in the health care delivery system as well as in different parts of the world. This is the 3rd , and much expanded edition, of a text that was first published in 1989 (Lea and Fibiger). The second edition was published in 2006 (Paul Brookes) and has been used as a formal required text in training programs for physicians, nurses and nurse practitioners as well as by administrators who are responsible for programs serving people with IDD. This book is considered the “Bible” in the field of health care for people with IDD since 1989 when the first edition came out.

Neurogenetic Developmental Disorders

Neurogenetic Developmental Disorders
Author : Michèle M. M. Mazzocco,Judith L. Ross
Publisher : MIT Press
Release Date : 2007
Category : Medical
Total pages :507
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A reference to guide clinicians, researchers, teachers, and parents in identifying arange of genetic disorders despite widely variable cognitive, behavioral, and physicaleffects.

Neurological Syndromes

Neurological Syndromes
Author : J. Gordon Millichap
Publisher : Springer Science & Business Media
Release Date : 2013-08-04
Category : Medical
Total pages :279
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Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis offers a concise, invaluable resource for understanding how a group of neurologic symptoms or signs collectively characterize a disease or disorder. Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more than 40 years experience in treating children, adolescents, and young adults, this handy title provides a definition of each syndrome that includes diagnostic characteristics and abnormalities, a differential diagnosis, genetic considerations, and a short list of references. To those readers who can recall the name of a syndrome, the alphabetical presentation should facilitate a review of the major diagnostic characteristics. The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. The index is arranged in alphabetical order of the named syndromes and also according to the involvement of various organs in addition to the nervous system. A unique contribution to the literature, Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis will be of great interest to the wide variety of clinicians treating patients with neurologic disease.

Developmental Disabilities

Developmental Disabilities
Author : Ahmad Salehi
Publisher : BoD – Books on Demand
Release Date : 2013-07-10
Category : Science
Total pages :154
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Although various developmental disabilities affecting children and adults might have different pathogeneses, underlying mechanisms, and clinical presentations, the current books emphasizes the fact that there are numerous commonalities in methods of understanding, clinical diagnosis, and handling of behavioral abnormalities in affected individuals. For instance, understanding sexual maturation and its consequences in people with intellectual disability would certainly present a path to better understanding of the differences with controls and more effective handling of the unwanted consequences in people affected.