The Chromosome 22q11 2 Deletion Syndrome

• Author : Donna M. McDonald-McGinn
• Publisher : Academic Press
• Release : 19 August 2022

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book

• Author : Anonim
• Publisher : ScholarlyEditions
• Release : 09 January 2012

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

• Author : Robert J. Shprintzen,Karen J. Golding-Kushner
• Publisher : Plural Publishing
• Release : 01 July 2008

• Author : Anonim
• Publisher : ScholarlyEditions
• Release : 10 December 2012

DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 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 / 2012 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

• Author : Amy K. Olszewski
• Publisher : Unknown
• Release : 07 June 2023

Mood disorders are some of the most commonly diagnosed psychiatric disorders in childhood and adolescence. Major Depressive Disorder (MDD) and Bipolar Disorder (BPD) have become more widely recognized in children and adolescents in recent years and are especially common in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). Disruptions in social functioning are a common feature of mood disorders, including social withdrawal and loss of interest in activities that the individual typically experiences as pleasurable (anhedonia). Studies of individuals with 22

• Author : Heather Mehle Shapiro
• Publisher : Unknown
• Release : 07 June 2023

Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive dysfunction and significantly elevated risk for developing schizophrenia. A better understanding of specific neurocognitive impairments and their developmental time course would significantly clarify the nature of cognitive dysfunction in this population and help support the construction of diagnostic and therapeutic tools that will ultimately help individuals with the disorder. One approach for characterizing the development of neurocognitive processes in humans is through the use of

• Author : Andrea Stachon
• Publisher : Unknown
• Release : 07 June 2023

• Author : Donna Cutler-Landsman
• Publisher : Plural Publishing
• Release : 01 January 2020

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

• Author : Patric Olivier Eberle
• Publisher : Unknown
• Release : 07 June 2023

• Author : Corrado Lavini,Cesar A. Moran,Uliano Morandi,Rudolf Schoenhuber
• Publisher : Springer Science & Business Media
• Release : 08 May 2009

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

• Author : Themasap Ahmad Khan
• Publisher : Unknown
• Release : 07 June 2023

22q11.2 deletion syndrome (22q11DS) is a common genetic cause of developmental neuropsychiatric disorders, including psychosis and autism spectrum disorders. This highly penetrant syndrome provides a unique opportunity to identify specific neuronal phenotypes and to elucidate the mechanisms underlying neuropsychiatric disorders. Here, we generated induced pluripotent stem cells from a cohort of 15 subjects carrying the canonical deletion at the 22q11.2 locus and from 15 controls, and we differentiated these cells into three--dimensional organoids resembling the developing cerebral cortex. Transcriptional profiling across 100

• Author : Abbie Marin Popa
• Publisher : Unknown
• Release : 07 June 2023

Anxiety, and emotional state, can interact with cognitive domains including attentional and inhibitory control. Often, these interactions result in maladaptive behavior or outcomes. For example, a child who continues to perseverate on perceived threat may overestimate danger in the world. These maladaptive behaviors may relate to development of anxiety, other disorders, and ability to function in the world. We examined interactions between emotional stimuli and attentional and inhibitory control in two populations. First, we recruited 12-17 year olds with and

• Author : Anonim
• Publisher : ScholarlyEditions
• Release : 26 December 2012

Congenital Abnormalities—Advances in Research and Treatment: 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Congenital Abnormalities in a compact format. The editors have built Congenital Abnormalities—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Congenital Abnormalities 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 Congenital Abnormalities—

• Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
• Publisher : John Wiley & Sons
• Release : 27 January 2021

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

• Author : Marci M. Lesperance,Paul W. Flint
• Publisher : Elsevier Health Sciences
• Release : 25 August 2021

Indispensable for all otolaryngologists who see children in their practice, as well as fellows and others in training, Cummings Pediatric Otolaryngology offers comprehensive, state-of-the-art coverage for evaluation and treatment of children with otolaryngologic disorders. The 2nd Edition features revised and updated content and numerous new chapters throughout, making it your #1 resource for the latest information, techniques, and treatments on improving otolaryngologic outcomes for children. Offers expanded discussion of common comorbidities occurring in children as well as challenging clinical problems in