Identification And Characterization Of Genetic Components In Autism Spectrum Disorders 2019 PDF Download

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Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019

Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019
Author: Merlin G Butler
Publisher: Mdpi AG
Total Pages: 256
Release: 2022-04-26
Genre: Medical
ISBN: 9783036536095
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The Identification of the Genetic Components of Autism Spectrum Disorders 2019 will serve as a resource for laboratory and clinical scientists as well as translational-based researchers, primary healthcare providers or physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, and other healthcare providers, teachers, caregivers and students involved in autism spectrum disorders (ASD) with the goal to translate information directly to the clinic, education and home setting. Other professionals, students and families might find this textbook of value based on better awareness, causes and understanding of genetic components leading to autism and open avenues for treatment. Genetics play a role with up to 90% of autism, with over 800 currently recognized genes contributing to causes, clinical presentation, treatment, and counseling of family members. This textbook includes 13 chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to research and clinical care, description, treatment and generating relevant reviews for ASD and related disorders impacting gene expression, profiling, and pathways. Identification of potential risk factors will be discussed, including obesity, microbiota, malignancy, and the immune system, as well as their direct or indirect contribution to ASD treatment and causation.

Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020

Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2020
Author: Merlin G. Butler
Publisher:
Total Pages: 0
Release: 2022
Genre:
ISBN: 9783036536125
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The Identification of the Genetic Components of Autism Spectrum Disorders 2020 will be a useful resource for laboratory and clinical scientists, translational-based researchers, primary healthcare providers and physicians, psychologists/psychiatrists, neurologists, developmental pediatricians, clinical geneticists, teachers, special educators, and caregivers involved with individuals who have autism spectrum disorders (ASD), with the goal to translate information directly to the clinical, education and home settings. Other professionals, students at all levels, and families who are interested in this important neurodevelopmental disorder will find this textbook of value by obtaining a better awareness of the causes, testing, and understanding of genetic components leading to autism, and research that may open avenues for treatment with new approaches. This textbook includes nine chapters divided into three sections (clinical, genetics, other) written by experts in the field dedicated to genetics research and clinical care, description, and treatment by generating reviews for ASD and related disorders. These chapters include information on discoveries, risk factors, causation, diagnosis, treatment, and phenotyping with characterization of genomic or genetic factors and the environment, as genetics play an important role in up to 90% of individuals with autism via over 800 currently recognized genes.

The Identification of the Genetic Components of Autism Spectrum Disorders 2017

The Identification of the Genetic Components of Autism Spectrum Disorders 2017
Author: Merlin G. Butler
Publisher: MDPI
Total Pages: 473
Release: 2018-06-27
Genre: Electronic book
ISBN: 3038425206
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This book is a printed edition of the Special Issue "The Identification of the Genetic Components of Autism Spectrum Disorders 2017" that was published in IJMS

The Identification of the Genetic Components of Autism Spectrum Disorders 2017

The Identification of the Genetic Components of Autism Spectrum Disorders 2017
Author:
Publisher:
Total Pages:
Release: 2017
Genre: Electronic book
ISBN: 9783038425212
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Annotation This textbook is dedicated to the study of genetic factors contributing to autism and includes a collection of original research and review articles related to this topic. Autism spectrum disorders (ASD) include a collection of neurodevelopmental disorders characterized by three recognized behavioral domains involving difficulties in communication, social interaction and repetitive behavior. ASD affects 1 to 2 percent of children and is on the increase worldwide. Significant genetic contributions and mechanisms underlie the causation of ASD. Advances in genetic technology and better awareness have led to a diagnosis of 50 to 70 percent of individuals with ASD primarily due to chromosomal abnormalities, submicroscopic deletions or duplications now identified with high-resolution microarray analysis, next-generation DNA (exome) sequencing of gene variants or mutations, recognized single gene disorders or metabolic disturbances. Through discovery by searching genomic databases and peer-reviewed research articles, nearly 800 genes have been identified to contribute to ASD. Highlights in the field of autism research, discovery and identification of genetic components with characterization will be addressed. Furthermore, reviews of current understanding of the causes and diagnostic approaches for ASD and related syndromes will be presented along with discussion of psychiatric/behavior comorbidities and related features, environmental risk factors, parental attitudes and treatment.

Genomic Disorders

Genomic Disorders
Author: James R. Lupski
Publisher: Springer Science & Business Media
Total Pages: 419
Release: 2007-11-10
Genre: Medical
ISBN: 1597450391
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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.

A Time for Metabolism and Hormones

A Time for Metabolism and Hormones
Author: Paolo Sassone-Corsi
Publisher: Springer
Total Pages: 132
Release: 2016-04-04
Genre: Medical
ISBN: 3319270699
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Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

Handbook of Life Course Health Development

Handbook of Life Course Health Development
Author: Neal Halfon
Publisher: Springer
Total Pages: 667
Release: 2017-11-20
Genre: Medical
ISBN: 3319471430
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This book is open access under a CC BY 4.0 license. ​This handbook synthesizes and analyzes the growing knowledge base on life course health development (LCHD) from the prenatal period through emerging adulthood, with implications for clinical practice and public health. It presents LCHD as an innovative field with a sound theoretical framework for understanding wellness and disease from a lifespan perspective, replacing previous medical, biopsychosocial, and early genomic models of health. Interdisciplinary chapters discuss major health concerns (diabetes, obesity), important less-studied conditions (hearing, kidney health), and large-scale issues (nutrition, adversity) from a lifespan viewpoint. In addition, chapters address methodological approaches and challenges by analyzing existing measures, studies, and surveys. The book concludes with the editors’ research agenda that proposes priorities for future LCHD research and its application to health care practice and health policy. Topics featured in the Handbook include: The prenatal period and its effect on child obesity and metabolic outcomes. Pregnancy complications and their effect on women’s cardiovascular health. A multi-level approach for obesity prevention in children. Application of the LCHD framework to autism spectrum disorder. Socioeconomic disadvantage and its influence on health development across the lifespan. The importance of nutrition to optimal health development across the lifespan. The Handbook of Life Course Health Development is a must-have resource for researchers, clinicians/professionals, and graduate students in developmental psychology/science; maternal and child health; social work; health economics; educational policy and politics; and medical law as well as many interrelated subdisciplines in psychology, medicine, public health, mental health, education, social welfare, economics, sociology, and law.

Diagnostic Molecular Pathology

Diagnostic Molecular Pathology
Author: William B. Coleman
Publisher: Academic Press
Total Pages: 846
Release: 2023-10-27
Genre: Science
ISBN: 0128229934
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Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease