Category Archives: Genetics

Handbook of Neurodevelopmental and Genetic Disorders in Adults Illustrated Edition

While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

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The Genetics of Neurodevelopmental Disorders 1st Edition

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting.

The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions.

A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

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Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e Second Edition

Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children’s learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

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Signs and Symptoms of Genetic Conditions: A Handbook 1st Edition

Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist.

Comprising 31 clinical protocols from the world’s foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis.

To maximize clinical utility, this handbook features:

· Prominent flow chart diagrams that graphically depict the diagnostic approach
· Concise recommendations for laboratory and/or imaging studies
· Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom

Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

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Molecular Genetics and the Human Personality 1st Edition

In the 1960’s and 1970’s, personality and mental illness were conceptualized in an intertwined psychodynamic model. Biological psychiatry for many un-weaved that model and took mental illness for psychiatry and left personality to psychology. This book brings personality back into biological psychiatry, not merely in the form of personality disorder but as part of a new intertwined molecular genetic model of personality and mental disorder. This is the beginning of a new conceptual paradigm!!

This breakthrough volume marks the beginning of a new era, an era made possible by the electrifying pace of discovery and innovation in the field of molecular genetics. In fact, several types of genome maps have already been completed, and today’s experts confidently predict that we will have a smooth version of the sequencing of the human genome — which contains some 3 billion base pairs

Such astounding progress helped fuel the development of this remarkable volume, the first ever to discuss the brand-new — and often controversial — field of molecular genetics and the human personality. Questioning, critical, and strong on methodological principles, this volume reflects the point of view of its 35 distinguished contributors — all pioneers in this burgeoning field and themselves world-class theoreticians, empiricists, clinicians, developmentalists, and statisticians.

For students of psychopathology and others bold enough to hold in abeyance their understandable misgivings about the conjunction of “molecular genetics” and “human personality,” this work offers an authoritative and up-to-date introduction to the molecular genetics of human personality. The book, with its wealth of facts, conjectures, hopes, and misgivings, begins with a preface by world-renowned researcher and author Irving Gottesman. – The authors masterfully guide us through Chapter 1, principles and methods; Chapter 4, animal models for personality; and Chapter 11, human intelligence as a model for personality, laying the groundwork for our appreciation of the remaining empirical findings of human personality qua personality.- Many chapters (6, 7, 9, 11, and 13) emphasize the neurodevelopmental and ontogenetic aspects of personality, with a major emphasis on the receptors and transporters for the neurotransmitters dopamine and serotonin. Though these neurotransmitters are a rational starting point now, the future undoubtedly will bring many other candidate genes that today cannot even be imagined, given our ignorance of the genes involved in the prenatal development of the central nervous system. – Chapter 3 provides an integrative overview of the broad autism phenotype, and as such will be of special interest to child psychiatrists. Chapters 5, 8, and 10 offer enlightening information on drug and alcohol abuse. Chapter 14 discusses variations in sexuality.- Adding balance and mature perspectives on how all the chapters complement and sometimes challenge one another are Chapter 2, written by a major figure in the renaissance of the relevance to psychopathology of both genetics and personality; Chapters 15-17, informed critical appraisals citing concerns and cautions about premature applications of this information in the policy arena; and Chapter 18, a judicious contemplation by the editors themselves of this promising — and, to some, alarming — field.

Clear and meticulously researched, this eminently satisfying work is written to introduce the subject to postgraduate students just beginning to develop their research skills, to interested psychiatric practitioners, and to informed laypersons with some scientific background.

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Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood 3rd Edition

This text presents the anesthetic implications of genetic, metabolic, and dysmorphic pediatric disorders in a uniform format that moves through common and uncommon manifestations in the major anatomic areas and concludes with implications for the anesthetists faced with such a case. This unique format is useful for quick look-up of information that is otherwise esoteric and difficult to find. The new edition will be completely updated and will be presented in full color for the first time, allowing for the addition of many color photographs.

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Human Genetics: The Basics Edition 2

Human genetics has blossomed from an obscure biological science and explanation for rare disorders to a field that is profoundly altering health care for everyone. This thoroughly updated new edition of Human Genetics: The Basics provides a concise background of gene structure and function through the lens of real examples, from families living with inherited diseases to population-wide efforts in which millions of average people are learning about their genetic selves. The book raises compelling issues concerning:
• The role of genes in maintaining health and explaining sickness
• Genetic testing, gene therapy, and genome editing
• The common ancestry of all humanity and how we are affecting our future.
Written in an engaging, narrative manner, this concise introduction is an ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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Molecular Genetics of Mycobacteria Edition 2

A comprehensive collection of perspectives by experts in mycobacterial molecular biology
Mycobacterium tuberculosis causes one in four avoidable deaths in the developing world and kills more adults than malaria, AIDS, and all tropical diseases combined. Tuberculosis was named a global health emergency by the World Health Organization, a distinction no other disease has received. Although the study of mycobacterial genetics has expanded dramatically, with new investigations into mycobacterial growth, replication, metabolism, physiology, drug susceptibility, and virulence, most of the problems in tuberculosis control that existed in 2000 remain today.
Advances in our understanding of mycobacterial genetics have been reflected in exciting recent developments. New diagnostic approaches can identify drug resistance within a few hours, promising new drugs are progressing through the pipeline and into the clinic, and a range of newly developed vaccines are being evaluated. It is an exciting time as the fruits of 30 years of intensive genetic investigation are finally beginning to emerge.
Written by leading experts in the field, Molecular Genetics of Mycobacteria, Second Edition,
Discusses key areas of current research in mycobacterial genetics
Explains the genetics of the physiology, metabolism, and drug sensitivities of M. tuberculosis
Presents genetic approaches for manipulating M. tuberculosis
This book is an invaluable resource for anyone interested in the molecular genetics and molecular biology of mycobacteria.

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Peripheral Nerve Disorders: Pathology and Genetics

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Peripheral Nerve Disorders: Pathology and Genetics is a definitive, clinically-oriented guide to the pathology of peripheral nerve disorders.

These commonly seen neurological challenges have many causes and accurate diagnosis is often necessary via pathological analysis. New techniques exploiting molecular biological knowledge have opened up new vistas to understanding the pathogenesis of these disorders, and hence, their effective management.

This new title takes a disease-oriented approach to understanding the pathology of these conditions. It combines classical and contemporary techniques to enable practitioners in neurology and neuropathology to better understand the disease processes underlying patients’ presentations and to formulate appropriate management plans.

Peripheral Nerve Disorders: Pathology and Genetics is a valuable resource for neurologists, neuropathologists, pathologists, neurobiologists and geneticists.

Jean-Michel Vallat, Neurology Laboratory, National Referral Center for Rare Peripheral Neuropathies, University Hospital, Limoges, France

Joachim Weis, Director, Institute of Neuropathology, RWTH Aachen University Hospital, JARA Brain Translational Medicine, Aachen, Germany

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Moments of Truth in Genetic Medicine

Genetic research increasingly dominates medical thought and practice in the United States and in many other industrialized nations. Susan Lindee’s original study explores the institutions, disciplines, and ideas that initiated the reconfiguration of genetic medicine from a marginal field in the mid-1950s to a core research frontier of biomedicine. Tracing the work of geneticists and other experts in identifying and classifying disease during the explosive period between 1950 and 1980, Lindee identifies the individual “moments of truth” that moved the field away from its eugenic past to the center of a new world view in which nearly all disease is understood to be fundamentally genetic. She suggests that these moments of truth were experienced not only by scientists but also by those who had familial, intimate, emotional knowledge of hereditary disease: patients, family members, and research subjects. Focusing on benchmarks in the fieldÑsuch as the rise of neonatal testing in the 1960s, genetic studies of unique human populations such as the Amish, the development of human cytogenetics and human behavioral genetics, and the efforts to find genes for rare diseases such as familial dysautonomiaÑshe tracks the emergence of a biomedical consensus that nearly all disease is genetic disease. Using the success of this field as a point of entry, Lindee chronicles both the production of knowledge in biomedicine and changes in the cultural meaning of the body in the late twentieth century. She suggests that scientific knowledge is a community project that is shaped directly by people in many different social and professional locations. The power to experience and report scientific truth may be much more dispersed than it sometimes appears, because people know things about their own bodies, and their knowledge has often been incorporated into the technical infrastructure of genomic medicine. Lindee’s pathbreaking study shows

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