The Chromosome 22q11 2 Deletion Syndrome Book

The Chromosome 22q11 2 Deletion Syndrome


  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Release Date : 2022-08-26
  • Genre: Medical
  • Pages : 526
  • ISBN 10 : 9780128160480

DOWNLOAD BOOK
The Chromosome 22q11 2 Deletion Syndrome Excerpt :

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 Book

Secondary Schizophrenia


  • Author : Perminder S. Sachdev
  • Publisher : Cambridge University Press
  • Release Date : 2010-02-04
  • Genre: Medical
  • Pages : null
  • ISBN 10 : 9781139485227

DOWNLOAD BOOK
Secondary Schizophrenia Excerpt :

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 Book

Genomic Disorders


  • Author : James R. Lupski
  • Publisher : Springer Science & Business Media
  • Release Date : 2007-11-10
  • Genre: Medical
  • Pages : 426
  • ISBN 10 : 9781597450393

DOWNLOAD BOOK
Genomic Disorders Excerpt :

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.

Chromosomal Variation in Man Book

Chromosomal Variation in Man


  • Author : Digamber S. Borgaonkar
  • Publisher : Unknown
  • Release Date : 1977
  • Genre: Caryotypes - Catalogues
  • Pages : 462
  • ISBN 10 : UOM:39015003773481

DOWNLOAD BOOK
Chromosomal Variation in Man Excerpt :

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.

Educating Children with Velo Cardio Facial Syndrome  22q11 2 Deletion Syndrome  and DiGeorge Syndrome  Third Edition Book

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
  • Genre: Medical
  • Pages : 387
  • ISBN 10 : 9781635501711

DOWNLOAD BOOK
Educating Children with Velo Cardio Facial Syndrome 22q11 2 Deletion Syndrome and DiGeorge Syndrome Third Edition Excerpt :

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 healt

Psychiatric Genetics Book

Psychiatric Genetics


  • Author : Jordan W. Smoller
  • Publisher : American Psychiatric Pub
  • Release Date : 2009-02-20
  • Genre: Medical
  • Pages : 337
  • ISBN 10 : 9781585628797

DOWNLOAD BOOK
Psychiatric Genetics Excerpt :

As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks associated with specific psychiatric disorders, risk/benefit considerations related to medication use during pregnancy, and the ethical and social implications of psychiatric genetic knowledge and research -- including the prospects for genetic testing. While other books have been written for the genetics community, this volume is addressed to practitioners: a clinically relevant resource that can help them understand the often bewildering flood of information about genetics -- information difficult to interpret, let alone integrate into practice -- and enable them to respond to patients' requests to predict the risk of recurrence of psychiatric illness or provide information about reproductive and pregnancy-related issues. Experts from psychiatry, genetic epidemiology, molecular genetics, genetic counseling, cognitive psychology, and ethics focus on issues that have received little attention elsewhere yet are of increasing importance to clinicians. Written at a level that assumes no particular expertise in genetics, the book features these immediately applicable benefits: It offers a framework for understanding and critically evaluating the psychiatric genetic research literature, enabling clinicians to better understand the meaning and limitations of genetic discoveries when patients raise questions about media reports. It provides a resource for clinicians who would like more information about the role and content of genetic counseling,

Sleep and Affect Book
Score: 4
From 1 Ratings

Sleep and Affect


  • Author : Kimberly Babson
  • Publisher : Academic Press
  • Release Date : 2015-01-21
  • Genre: Science
  • Pages : 532
  • ISBN 10 : 9780124172005

DOWNLOAD BOOK
Sleep and Affect Excerpt :

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

Genetics for Pediatricians Book

Genetics for Pediatricians


  • Author : Mohnish Suri
  • Publisher : Remedica
  • Release Date : 2005
  • Genre: Medical
  • Pages : 321
  • ISBN 10 : 9781901346633

DOWNLOAD BOOK
Genetics for Pediatricians Excerpt :

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.

Cleft Lip and Palate Book

Cleft Lip and Palate


  • Author : M.T. Cobourne
  • Publisher : Karger Medical and Scientific Publishers
  • Release Date : 2012-06-27
  • Genre: Medical
  • Pages : 170
  • ISBN 10 : 9783318021080

DOWNLOAD BOOK
Cleft Lip and Palate Excerpt :

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.

Etiology and Morphogenesis of Congenital Heart Disease Book

Etiology and Morphogenesis of Congenital Heart Disease


  • Author : Toshio Nakanishi
  • Publisher : Springer
  • Release Date : 2016-06-24
  • Genre: Medical
  • Pages : 383
  • ISBN 10 : 9784431546283

DOWNLOAD BOOK
Etiology and Morphogenesis of Congenital Heart Disease Excerpt :

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 Book

Missing Genetic Pieces


  • Author : Sherry Baker-Gomez
  • Publisher : Missing Genetic Pieces
  • Release Date : 2004
  • Genre: Genetic disorders
  • Pages : 580
  • ISBN 10 : 097453580X

DOWNLOAD BOOK
Missing Genetic Pieces Excerpt :

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

Vulnerability to Psychosis Book

Vulnerability to Psychosis


  • Author : Franco De Masi
  • Publisher : Routledge
  • Release Date : 2018-04-24
  • Genre: Psychology
  • Pages : 344
  • ISBN 10 : 9780429923739

DOWNLOAD BOOK
Vulnerability to Psychosis Excerpt :

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.

Genetic Counseling Practice Book

Genetic Counseling Practice


  • Author : Bonnie S. LeRoy
  • Publisher : John Wiley & Sons
  • Release Date : 2020-11-16
  • Genre: Medical
  • Pages : 416
  • ISBN 10 : 9781119529859

DOWNLOAD BOOK
Genetic Counseling Practice Excerpt :

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.

The Causes and Consequences of Chromosomal Aberrations Book

The Causes and Consequences of Chromosomal Aberrations


  • Author : Ilan R. Kirsch
  • Publisher : CRC Press
  • Release Date : 1992-12-21
  • Genre: Science
  • Pages : 556
  • ISBN 10 : 0849388937

DOWNLOAD BOOK
The Causes and Consequences of Chromosomal Aberrations Excerpt :

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.

Etiology and Morphogenesis of Congenital Heart Disease Book

Etiology and Morphogenesis of Congenital Heart Disease


  • Author : Edward Clark
  • Publisher : Wiley-Blackwell
  • Release Date : 2000-12-27
  • Genre: Medical
  • Pages : 397
  • ISBN 10 : 0879934476

DOWNLOAD BOOK
Etiology and Morphogenesis of Congenital Heart Disease Excerpt :

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.