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The Chromosome 22q112 Deletion Syndrome

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The Chromosome 22q11 2 Deletion Syndrome

The Chromosome 22q11 2 Deletion Syndrome Book
Author : Donna M. McDonald-McGinn
Publisher : Elsevier
Release : 2022-08-12
ISBN : 0128160470
Language : En, Es, Fr & De

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Book Description :

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this 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 cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making

The Chromosome 22q11 2 Deletion Syndrome

The Chromosome 22q11 2 Deletion Syndrome Book
Author : Donna M. McDonald-McGinn
Publisher : Academic Press
Release : 2022-08-26
ISBN : 0128160489
Language : En, Es, Fr & De

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Book Description :

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 presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making

Secondary Schizophrenia

Secondary Schizophrenia Book
Author : Perminder S. Sachdev,Matcheri S. Keshavan
Publisher : Cambridge University Press
Release : 2010-02-04
ISBN : 1139485229
Language : En, Es, Fr & De

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Book Description :

Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.

Genomic Disorders

Genomic Disorders Book
Author : James R. Lupski,Pawel T. Stankiewicz
Publisher : Springer Science & Business Media
Release : 2007-11-10
ISBN : 1597450391
Language : En, Es, Fr & De

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Book Description :

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.

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 Book
Author : Donna Cutler-Landsman
Publisher : Plural Publishing
Release : 2020-01-01
ISBN : 1635501717
Language : En, Es, Fr & De

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Book Description :

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

Chromosomal Variation in Man

Chromosomal Variation in Man Book
Author : Digamber S. Borgaonkar
Publisher : Unknown
Release : 1977
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Over 1500 entries to literature (mostly English-language journal articles). Sources were Current contents, various genetics journals, Excerpta medica, and Index medicus. Entries arranged under sections titled Structural variations and anomalies, Numerical anomalies, and Chromosome breakage syndromes. Author, selected syndrome index.

Genetics for Pediatricians

Genetics for Pediatricians Book
Author : Mohnish Suri,Ian D. Young
Publisher : Remedica
Release : 2005
ISBN : 1901346633
Language : En, Es, Fr & De

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Book Description :

Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. In this book, coverage has been restricted to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.

Sleep and Affect

Sleep and Affect Book
Author : Kimberly Babson,Matthew Feldner
Publisher : Academic Press
Release : 2015-01-21
ISBN : 0124172008
Language : En, Es, Fr & De

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Book Description :

Sleep and Affect: Assessment, Theory, and Clinical Implications synthesizes affective neuroscience research as it relates to sleep psychology and medicine. Evidence is provided that normal sleep plays an emotional regulatory role in healthy humans. The book investigates interactions of sleep with both negative and positive emotions, along with their clinical implications. Sleep research is discussed from a neurobiological, cognitive, and behavioral approach. Sleep and emotions are explored across the spectrum of mental health from normal mood and sleep to the pathological extremes. The book, additionally, offers researchers a guide to methods and research design for studying sleep and affect. This book will be of use to sleep researchers, affective neuroscientists, and clinical psychologists in order to better understand the impact of emotion on sleep as well as the effect of sleep on physical and mental well-being. Contains neurobiological, cognitive, and behavioral approaches Explains methods for examining sleep and affect Summarizes research on sleep and specific affect states Translates research for clinical use in treating disorders

Cleft Lip and Palate

Cleft Lip and Palate Book
Author : M.T. Cobourne
Publisher : Karger Medical and Scientific Publishers
Release : 2012-06-27
ISBN : 3318021083
Language : En, Es, Fr & De

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Book Description :

Cleft lip and palate is a complex, multifactorial and relatively common craniofacial disorder, which arises because of disrupted facial development in the embryo. The manifestations of this condition can be life-long and associated with significant morbidity. In the last decade, progress has been made in our understanding of how clefts of the lip and palate arise in human populations, and laboratory studies are beginning to elucidate the molecular mechanisms that control development of the lip and palate. In addition, advances in surgical and medical care, and long-term rehabilitation are improving outcome and quality of life for affected individuals. Written by international experts in their respective fields, this publication covers in detail the epidemiology and genetic basis of cleft lip and palate, the developmental biology of lip and palate formation and provides current concepts in the management of patients affected by this condition. Thus, the book provides a contemporary overview of the epidemiology, aetiology and treatment of cleft lip and palate, and will be of use to a wide range of individuals, including students, biologists and clinicians, who have an interest in this subject.

Oxford Desk Reference

Oxford Desk Reference Book
Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Release : 2005
ISBN : 9780192628961
Language : En, Es, Fr & De

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Book Description :

Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Etiology and Morphogenesis of Congenital Heart Disease

Etiology and Morphogenesis of Congenital Heart Disease Book
Author : Toshio Nakanishi,Roger R. Markwald,H.Scott Baldwin,Bradley B. Keller,Deepak Srivastava,Hiroyuki Yamagishi
Publisher : Springer
Release : 2016-06-24
ISBN : 4431546286
Language : En, Es, Fr & De

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Book Description :

This volume focuses on the etiology and morphogenesis of congenital heart diseases. It reviews in detail the early development and differentiation of the heart, and later morphologic events of the cardiovascular system, covering a wide range of topics such as gene functions, growth factors, transcription factors and cellular interactions that are implicated in cardiac morphogenesis and congenital heart disease. This book also presents recent advances in stem cell and cell sheet tissue engineering technologies which have the potential to provide novel in vitro disease models and to generate regenerative paradigms for cardiac repair and regeneration. This is the ideal resource for physician scientists and investigators looking for updates on recent investigations on the origins of congenital heart disease and potential future therapies.

Missing Genetic Pieces

Missing Genetic Pieces Book
Author : Sherry Baker-Gomez
Publisher : Missing Genetic Pieces
Release : 2004
ISBN : 9780974535807
Language : En, Es, Fr & De

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Book Description :

VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Vulnerability to Psychosis

Vulnerability to Psychosis Book
Author : Franco De Masi
Publisher : Routledge
Release : 2018-04-24
ISBN : 0429923732
Language : En, Es, Fr & De

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Book Description :

This book postulates that the trigger of the psychotic condition is located in the basic processes which structure the first emotional relations. It presents some of the reasons why patients succumb to the attraction of a course doomed to result in the permanent derangement of their minds.

The Causes and Consequences of Chromosomal Aberrations

The Causes and Consequences of Chromosomal Aberrations Book
Author : Ilan R. Kirsch
Publisher : CRC Press
Release : 1992-12-21
ISBN : 9780849388934
Language : En, Es, Fr & De

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Book Description :

The Causes and Consequences of Chromosomal Aberrations explores one of the most dramatic examples of genomic instability-chromosomal aberrations. It describes some of the more recent techniques used to map genes within the human genome, study chromosomal aberrations at the cellular level, and define the organization of the interphase nucleus. General overviews are provided to build a conceptual framework for understanding the generality and specificity of chromosomal aberrations. The Causes and Consequences of Chromosomal Aberrations also explores the role of recombinases and topoisomerases in the development of chromosomal aberrations. It contains studies of chromosomal aberrations, which offer separate instructive treatises on specific malignancies. The Causes and Consequences of Chromosomal Aberrations is useful to medical and graduate students, physicians, molecular biologists, and cytogeneticists. It will benefit anyone interested in the concepts, contributions, and development in the field of molecular cytogenetics.

Genetic Counseling Practice

Genetic Counseling Practice Book
Author : Bonnie S. LeRoy,Patricia M. Veach,Nancy P. Callanan
Publisher : John Wiley & Sons
Release : 2020-11-16
ISBN : 1119529859
Language : En, Es, Fr & De

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Book Description :

The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.

Handbook of Pragmatic Language Disorders

Handbook of Pragmatic Language Disorders Book
Author : Louise Cummings
Publisher : Springer Nature
Release : 2022-11-27
ISBN : 3030749851
Language : En, Es, Fr & De

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Book Description :

Download Handbook of Pragmatic Language Disorders book written by Louise Cummings, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Mutations in Human Genetic Disease

Mutations in Human Genetic Disease Book
Author : David Cooper,Jian-Min Chen
Publisher : BoD – Books on Demand
Release : 2012-10-12
ISBN : 9535107909
Language : En, Es, Fr & De

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Book Description :

Different types of mutation can vary in size, from structural variants to single base-pair substitutions, but what they all have in common is that their nature, size and location are often determined either by specific characteristics of the local DNA sequence environment or by higher order features of the genomic architecture. The genomes of higher organisms are now known to contain "pervasive architectural flaws" in that certain DNA sequences are inherently mutation prone by virtue of their base composition, sequence repetitivity and/or epigenetic modification. In this volume, a number of different authors from diverse backgrounds describe how the nature, location and frequency of different types of mutation causing inherited disease are shaped in large part, and often in remarkably predictable ways, by the local DNA sequence environment.

National Institute of Allergy and Infectious Diseases NIH

National Institute of Allergy and Infectious Diseases  NIH Book
Author : Vassil St. Georgiev,Karl Western,John J. McGowan
Publisher : Springer Science & Business Media
Release : 2008-08-22
ISBN : 9781597455695
Language : En, Es, Fr & De

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Book Description :

For over 50 years, the mission of the National Institute of Allergy and Infectious Diseases (NIAID) has been to conduct and support basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases with the ultimate goal of improving the health of individuals in the United States and around the world. As part of its mission to foster biomedical discovery and to reduce the burden of human disease, NIAID is committed to encouraging the accelerated translation of biomedical discoveries into effective clinical care and public health practice throughout the world. In pursuit of this goal and its disease-specific scientific objectives, NIAID seeks to broaden research opportunities and collaborations involving scientists and institutions outside the United States. National Institute of Allergy and Infectious Diseases, NIH: Volume 1, Frontiers in Research contains presentations given at the 2006 NIAID Research Conference held in Opatija, Croatia which brought internationally known researchers from the United States and Central and Eastern Europe to focus together on shared interests in microbiology, infectious disease, HIV/AIDS, and basic and clinical immunology. Some of the topics covered include emerging and re-emerging infections, the development of infectious disease prophylactics and therapeutics, drug resistance, and various topics in immunomodulation, autoimmunity, infections and immunity, and the development of vaccines. Extensive and in-depth, National Institute of Allergy and Infectious Diseases, NIH: Volume 1, Frontiers in Research is a valuable, comprehensive guide to the state of research today.

Etiology and Morphogenesis of Congenital Heart Disease

Etiology and Morphogenesis of Congenital Heart Disease Book
Author : Edward Clark,Atsuyoshi Takao,Makoto Nakazawa
Publisher : Wiley-Blackwell
Release : 2000-12-27
ISBN : 9780879934477
Language : En, Es, Fr & De

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Book Description :

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.

Cassidy and Allanson s Management of Genetic Syndromes

Cassidy and Allanson s Management of Genetic Syndromes Book
Author : John C. Carey,Suzanne B. Cassidy,Agatino Battaglia,David Viskochil
Publisher : John Wiley & Sons
Release : 2021-01-27
ISBN : 1119432677
Language : En, Es, Fr & De

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Book Description :

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.