Molekulare Humangenetik

Author: Tom Strachan,Andrew P. Read

Publisher: Spektrum Akademischer Verlag

ISBN: 9783827414939

Category: Science

Page: 802

View: 2086

Die vorliegende 3. Auflage der Molekularen Humangenetik ist völlig neu überarbeitet - unter Berücksichtigung der Entdeckungen, die im Zuge und in der Folge des Human Genome Project gemacht wurden. Die einführenden Kapitel (Teil I) beschreiben die Grundlagen wie DNA-Struktur und -Funktion, Chromosomen, Zellen und Entwicklung, Stammbaumanalysen und grundlegende Techniken im Labor. In Teil II werden die verschiedenen Genomsequenzierungsprojekte und die dadurch ermöglichten Einblicke in Organisation, Expression, Variabilität und Evolution des menschlichen Genoms gezeigt. Die Kartierung, Identifizierung und Diagnose der Ursachen von mendelnden und komplexen Krankheiten sowie Krebs ist Schwerpunkt von Teil III. Der letzte Teil gibt Ausblicke auf die funktionelle Genomik und Bioinformatik, auf Tiermodelle und Therapien. Das Buch soll eine Brücke bilden zwischen den grundlegenden Lehrbüchern und der Forschungsliteratur, sodass auch Interessierte mit relativ wenig Hintergrundwissen zum Thema die neuesten Forschungsergebnisse lesen und beurteilen können.

New Clinical Genetics

Author: Read,Dian Donnai

Publisher: N.A

ISBN: 9781907904677

Category: Medical genetics

Page: 472

View: 3188

Instructors' comments on new, 3rd, edition: "I LOVED the book. I've never seen anything like it, and I've reviewed a lot of genetics texts. The way that cases are presented throughout is extremely novel." "I am greatly pleased with the revisions. In my opinion, there is an increased clarity in the text (which will serve students well), and many welcomed updates based on current literature. Good job!" "I LIKE IT A LOT!!" "The book looks good and we will certainly be recommending it for our medical genetics course this autumn." "This is a fantastic book that I enjoy so much teaching from." "I have been reviewing the book. I think it is a great teaching tool since you can follow a case from beginning to end." "I have used this book every year since the first edition was published and it is a perfect fit for my human genetics course. I will definitely continue to use it." "It's great. I will recommend the book as a main text for the medical student class." In the few years since the previous edition technical progress, especially the widespread use of whole-genome technologies, has brought many advances in the understanding, diagnosis and treatment of genetic disease. As a result, most chapters have been substantially rewritten and updated to reflect this. The unique structure and format remains the same, but significant new material has been added to cover: *the widespread use of next-generation sequencing as a routine diagnostic tool *the checking of a patient's whole exome for the cause of their problem *noninvasive prenatal diagnosis by next-generation sequencing of free fetal DNA in the maternal circulation *a new integrated treatment of epigenetics *mosaicism, 'RASopathies' and disorders of the spliceosome are described in new Disease boxes *dysmorphology in more detail New Clinical Genetics continues to offer the most innovative case-based approach to modern genetics. It is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, and clinical and nurse geneticists. Reviews of earlier editions: "This book provides a wonderful case-based learning environment. There are also self-assessment questions. Students are not given model answers but are provided with guidance on how to work out the correct answers for themselves. Excellent!" Human Genetics "This book is a very valuable tool that will be used by future geneticists all over Europe and beyond, both as a teaching material and as a source of excellent knowledge." European Journal of HumanGenetics

ABC of Clinical Genetics, 3rd Edition, Helen M. Kingston, 2002

ABC of Clinical Genetics

Author: BMJ-Books Publication

Publisher: Bukupedia

ISBN: N.A

Category: Health & Fitness

Page: 129

View: 4433

Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the information now available it is necessary to understand the basic principles of inheritance and its chromosomal and molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other specialties are involved in the genetic aspects of the conditions they treat and need to provide information about genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware of the ethical implications of genetic technologies that enable manipulation of the human genome that may have future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied professionals who are not working within the field of genetics, to generate an interest in the subject and to guide readers in the direction of further, more detailed information. In producing this edition, the chapters on molecular genetics and its application to clinical practice have been completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been made to most other chapters so that they reflect current practice and knowledge, although some sections of the previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests. I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter 3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition. Helen M Kingston

Human Genetics and Genomics

Author: Bruce R. Korf

Publisher: Wiley-Blackwell

ISBN: 9780632046560

Category: Medical

Page: 288

View: 4258

Human Genetics and Genomics, Third Edition, is the new rendition of the classic textbook Human Genetics: A Problem-Based Approach. Thoroughly updated and restructured, this brand new edition uses both a classic didactic approach to teach basic genetic concepts and a problem-based approach to demonstrate the clinical applications of genetics in medical practice. By combining both these approaches, Human Genetics and Genomics is suitable both as a textbook for genetics courses, and as a bridge into the clinical environment. The third edition features greater emphasis on cutting edge technologies and the latest genetic issues, and a vast array of new pedagogy, such as: Clinical snapshots covering major genetic disorders Ethical Implications boxes discussing related ethical issues Key summary points at the beginning of each chapter and Q&As at the end of each chapter for self-assessment Hot topics covering new and emerging areas in genetics Recommended reading for each chapter A companion website at www.blackwellpublishing.com/korfgenetics

ABC of Clinical Genetic, Helen M. Kingston, 3rd Edition, 2002

Clinical Genetic

Author: BMJ Books Publishing

Publisher: Bukupedia

ISBN: 0727916270

Category: Medical

Page: 129

View: 8181

Since the first edition of this book in 1989 there have been enormous changes in clinical genetics, reflecting the knowledge generated from the tremendous advances in molecular biology, culminating in the publication of the first draft of the human genome sequence in 2001, and the dissemination of information via the internet. The principles of genetic assessment and the aims of genetic counselling have not changed, but the classification of genetic disease and the practice of clinical genetics has been significantly altered by this new knowledge. To interpret all the information now available it is necessary to understand the basic principles of inheritance and its chromosomal and molecular basis. Recent advances in medical genetics have had a considerable impact on other specialties, providing a new range of molecular diagnostic tests applicable to many branches of medicine, and more patients are presenting to their general practitioners with concerns about a family history of disorders such as cancer. Increasingly, other specialties are involved in the genetic aspects of the conditions they treat and need to provide information about genetic risk, undertake genetic testing and provide appropriate counselling. All medical students, irrespective of their eventual career choice therefore need to be familiar with genetic principles, both scientific and clinical, and to be aware of the ethical implications of genetic technologies that enable manipulation of the human genome that may have future application in areas such as gene therapy of human cloning. The aim of this third edition of the ABC is therefore to provide an introduction to the various aspects of medical genetics for medical students, clinicians, nurses and allied professionals who are not working within the field of genetics, to generate an interest in the subject and to guide readers in the direction of further, more detailed information. In producing this edition, the chapters on molecular genetics and its application to clinical practice have been completely re-written, bringing the reader up to date with current molecular genetic techniques and tests as they are applied to inherited disorders. An introduction to the internet in human genetics has also been included. There are new chapters on genetic services, genetic assessment and genetic counselling together with a new chapter highlighting the clinical and genetic aspects of some of the more common single gene disorders. Substantial alterations have been made to most other chapters so that they reflect current practice and knowledge, although some sections of the previous edition remain. A glossary of terms is included for readers who are not familiar with genetic terminology, a further reading list is incorporated and a list of websites included to enable access to data that is changing on a daily basis. As in previous editions, illustrations are a crucial component of the book, helping to present complex genetic mechanisms in an easily understood manner, providing photographs of clinical disorders, tabulating genetic diseases too numerous to be discussed individually in the text and showing the actual results of cytogenetic and molecular tests. I am grateful to many colleagues who have helped me in producing this edition of the ABC. In particular, I am indebted to Dr David Gokhale who has re-written chapters 17, 18 and 20, and has provided the majority of the illustrations for chapters 16, 17 and 18. I am also grateful to Lauren Kerzin-Storrar and Tara Clancy for writing chapter 3 and to Dr Bronwyn Kerr for contributing to chapter 11. Numerous colleagues have provided illustrations and are acknowledged throughout the book. In particular, I would like to thank Professor Dian Donnai, Dr Lorraine Gaunt and Dr Sylvia Rimmer who have provided many illustrations for this as well as previous editions, and to Helena Elliott who has prepared most of the cytogenetic pictures incorporated into this new edition. I am also very grateful to the families who allowed me to publish the clinical photographs that are included in this book to aid syndrome recognition. Helen M Kingston

Freakonomics

überraschende Antworten auf alltägliche Lebensfragen ; [warum wohnen Drogenhändler bei ihren Müttern? Führt mehr Polizei zu weniger Kriminalität? Sind Swimmingpools gefährlicher als Revolver? Macht gute Erziehung glücklich?]

Author: Steven D. Levitt,Stephen J. Dubner

Publisher: N.A

ISBN: 9783442154517

Category:

Page: 411

View: 5273

Sind Swimmingpools gefährlicher als Revolver? Warum betrügen Lehrer? Der preisgekrönte Wirtschaftswissenschaftler Steven D. Levitt kombiniert Statistiken, deren Zusammenführung und Gegenüberstellung auf den ersten Blick absurd erscheint, durch seine Analysetechnik aber zu zahlreichen Aha-Effekten führt. Ein äußerst unterhaltsamer Streifzug durch die Mysterien des Alltags, der uns schmunzeln lässt und stets über eindimensionales Denken hinausführt.

Gentechnologie für Einsteiger

Author: Terence A. Brown

Publisher: Springer

ISBN: 9783827413024

Category:

Page: 409

View: 9229

T. A. Browns "Gentechnologie fA1/4r Einsteiger" hat sich in mehreren Auflagen international als StandardeinfA1/4hrung in die Genklonierung und DNA-Analyse etabliert. Das Grundlagenlehrbuch setzt nur wenig Kenntnisse in Molekularbiologie und Genetik voraus und erlAutert in klarer Sprache sowohl die fundamentalen Prinzipien der wichtigsten gentechnologischen Methoden als auch die immer breiter werdende Palette ihrer Anwendungen. Die groAe Bedeutung der Gentechnologie fA1/4r die Grundlagenforschung und fA1/4r neue Entwicklungen in Biotechnologie und Medizin wird klar herausgearbeitet. Aoeber 250 zweifarbige Illustrationen erleichtern das VerstAndnis des Stoffes und machen die Konzepte und Arbeitstechniken der Gentechnologen anschaulich. Die neue Auflage ist vollstAndig A1/4berarbeitet und enthAlt zwei neue Kapitel. Eines prAsentiert die Methoden, mit denen man ganze Genome sequenziert, und beschreibt, was man aus den gewonnenen Sequenzinformationen ablesen kann. Das zweite widmet sich den Anwendungen der Gentechnologie in der Gerichtsmedizin - ein spannendes und aufschlussreiches Beispiel des Einsatzpotenzials der DNA-Analyse. Der groAen Bedeutung der Polymerasekettenreaktion (PCR) entsprechend wird diese Technik jetzt in einem frA1/4hen Abschnitt des Buches behandelt und durchgehend stArker berA1/4cksichtigt.

Genetik für Dummies

Author: Tara Rodden Robinson

Publisher: John Wiley & Sons

ISBN: 3527811478

Category: Science

Page: 400

View: 7188

Die Genetik ist eine der Naturwissenschaften, deren Wissen am schnellsten wächst und deren Erkenntnisse ständig in Bewegung und in der Diskussion sind. "Genetik für Dummies" erklärt, was überhaupt hinter diesem spannenden Thema steckt. Die Autorin Tara Rodden Robinson erklärt die Grundlagen der Vererbungslehre wie die Mendelschen Regeln, wie Zellen aufgebaut sind und sie sich teilen. Sie zeigt, wie die DNA aufgebaut ist, wie sie kopiert und richtig in Proteine übersetzt wird. Außerdem geht sie auf die Bedeutung der Genetik in der Humanmedizin ein, wie Genmutationen und Erbkrankheiten entstehen. Sie erläutert, was beim Klonen passiert und was sich überhaupt hinter dem Begriff Gentechnik verbirgt. Auch die heißen Themen wie Stammzellentherapie und der Einsatz der Genetik in der Rechtsmedizin werden behandelt.

Current Diagnosis & Treatment in Rheumatology, Third Edition

Author: John Imboden,David Hellmann,John Stone

Publisher: McGraw Hill Professional

ISBN: 0071638067

Category: Medical

Page: 600

View: 524

The most up-to-date and readily accessible rheumatology resource available The third edition of this trusted quick-reference guide has everything you need to keep pace with this fast-moving field—presented in the acclaimed CURRENT format. A practical reference for primary care providers, the book simplifies the treatment of difficult-to-manage rheumatologic diseases and disorders, such as arthritis, lupus, and sarcoidosis. Features NEW full-color photographs NEW chapters on clinical genetics, drug-induced syndromes, and metabolic myopathies Straightforward, expert coverage of the entire range of rheumatology disorders Full explanations of common and major disorders in clinical immunology Concise chapters geared to the needs of trainees and clinicians First section that addresses common but difficult-to-diagnose rheumatologic complaints—and delivers key “approach to the patient” strategies

The Bipolar Disorder Survival Guide, Third Edition

What You and Your Family Need to Know

Author: David J. Miklowitz

Publisher: Guilford Publications

ISBN: 1462537278

Category: Medical

Page: 444

View: 2793

Bipolar disorder is a lifelong challenge--but it doesn't have to rule your life. Find the science-based information you need in the revised third edition of this indispensable guide. Trusted authority Dr. David J. Miklowitz shares proven strategies for managing your illness or supporting a loved one with the disorder. Learn specific steps to cope with mood episodes, reduce recurrences, avoid misdiagnosis, get the most out of treatment, resolve family conflicts, and make lifestyle changes to stay well. Updated throughout, the third edition has a new chapter on kids and teens; the latest facts on medications and therapy, including important advances in personalized care; and expanded coverage of the bipolar II subtype. It features boxes on complementary and alternative treatments and provides downloadable practical tools.

Heart Failure

A Companion to Braunwald's Heart Disease

Author: Douglas L. Mann,G. Michael Felker

Publisher: Elsevier Health Sciences

ISBN: 0323315682

Category: Medical

Page: 832

View: 1417

Lead editor of Braunwald's Heart Disease, Dr. Douglas L. Mann, and nationally and internationally recognized heart failure expert Dr. G. Michael Felker, bring you the latest, definitive state-of-the art information on heart failure in this outstanding Braunwald's companion volume. Heart Failure, 3rd Edition keeps you current with recent developments in the field, improved patient management strategies, and new drug therapies and implantable devices that will make a difference in your patients' lives and your practice.

Introduction to Clinical Nutrition, Third Edition

Author: Vishwanath Sardesai

Publisher: CRC Press

ISBN: 1439818185

Category: Medical

Page: 704

View: 7861

Dietary factors have been implicated in at least four of the ten leading causes of death in the U.S. (heart disease, cancer, diabetes, and stroke). Nevertheless, physicians frequently receive inadequate training in nutrition to properly counsel their patients. Introduction to Clinical Nutrition, Third Edition discusses the physiologic and metabolic interrelationships of all nutrients and their roles in health maintenance and the prevention of various diseases. Since the publication of the second edition of this book, new discoveries have revolutionized the field of clinical nutrition. This is true especially with respect to gene-nutrient interaction, epigenetic pathways that contribute to the activation and inactivation of gene expression, the relationship of nutrients to telomere length and health, and personalized nutrition. Highlighting these advances, new and revised topics include: Fiber, antioxidants, nutraceuticals, alternative medicine, and epidemiology DNA, gene–nutrient interaction, epigenetics, and telomeres Nutritional aspects of kidney disease, diabetes, and metabolic syndrome Personalized nutrition and personalized medicine Vegetarianism, the Mediterranean diet, and other popular dietary practices Obesity and cholesterol Designed as a textbook for students in conventional medicine, osteopathy, dentistry, dietetics, nursing, pharmacy, and public health, the book focuses on the critical biochemical and physiological aspects of nutrients. It includes clinical case studies to clarify topics at the end of most chapters and references to facilitate further study.

The Psychiatric Interview in Clinical Practice, Third Edition

Author: Roger A. MacKinnon, M.D.,Robert Michels, M.D.,Peter J. Buckley, M.D.

Publisher: American Psychiatric Pub

ISBN: 161537034X

Category: Medical

Page: 704

View: 2750

Much has changed in the critical interval since the last edition of The Psychiatric Interview in Clinical Practice was published. This new, third edition provides an up-to-date examination of the psychiatric interview that reflects changes introduced in DSM-5, while continuing to recognize that describing symptoms and establishing a diagnosis should command only a portion of the clinician's attention, and that a patient's personal history must be elicited and character structure addressed in the clinical engagement. Significant advances have been made in biological psychiatry, and research in genetics, cognitive neuroscience, psychopharmacology, brain imaging, and the neurosciences in general continues apace, informing the culture of psychiatry and providing growing insight into the etiology of mental illnesses. However, the book reflects the authors' belief that virtually all major psychiatric disorders are complex amalgams of genetic disposition and environmental influences. In this context, the psychiatric interview is a vitally important dialogue, and effective strategies are modeled through the use of clinical vignettes taken from the authors' experience. Topics and features of this new edition include: * An updating of diagnostic considerations to reflect the publication of DSM-5.* A chapter on interviewing the patient with dissociative identity disorder (DID), which is now recognized as an entity distinct from other psychopathological conditions and rooted in childhood trauma. The frequency of DID in the ambulatory setting has been repeatedly demonstrated and speaks to the need to accurately diagnose and treat this often-debilitating disorder.* An entirely updated chapter on interviewing the traumatized patient.* A section on interviewing the patient of different background. The book emphasizes that the subjective experience of being "different" is universal and that psychiatry is enriched by recognizing and exploring that experience, validating its existence, and attempting to understand how it influences the patient's life.* Continued emphasis on and inclusion of relevant case vignettes drawn from the authors' clinical experiences.* Structural consistency across chapters, with sections on psychopathology and psychodynamics, differential diagnosis, management of the interview, transference and countertransference, and so forth, which reinforces skills acquisition and makes the text easy to use. By creating a text that is aligned with DSM-5 while continuing to stress the importance of eliciting the patient's subjective experience and achieving a therapeutic dialogue, the authors of The Psychiatric Interview in Clinical Practice have done a great service to the profession and provided much-needed guidance to mental health clinicians and trainees.

Bigger Leaner Stronger

Muskelaufbau und Fettverlust ohne Hungern und ohne komplizierte Trainingspläne - der natürliche Weg zum idealen Männerkörper

Author: Michael Matthews

Publisher: N.A

ISBN: 9783946566205

Category:

Page: 391

View: 5132


Child Psychopathology, Third Edition

Author: Eric J. Mash,Russell A. Barkley

Publisher: Guilford Publications

ISBN: 1462516688

Category: Psychology

Page: 1010

View: 4278

This highly respected reference and text on developmental psychopathology brings together leading authorities on the psychological, biological, and social-contextual determinants of child and adolescent problems. The comprehensive introductory chapter provides a state-of-the-art developmental-systems framework for understanding behavioral and emotional disturbances. Subsequent chapters synthesize the developmental bases of specific disorders. Coverage includes the characteristics, epidemiology, developmental course and outcomes, and etiological pathways of each disorder; risk and protective factors; and issues in conceptualization and diagnosis. Important unanswered questions are identified and implications for treatment and prevention considered. New to This Edition *Includes DSM-5 criteria and discussion of changes. *Incorporates over a decade's worth of research advances in genetics, neurobiology, and other areas. *Chapters on bipolar disorder, suicide/self-injury, obsessive-compulsive spectrum disorders, and personality disorders.