Genetic Counseling Research: A Practical Guide

Author: Ian MacFarlane,Patricia McCarthy Veach,Bonnie LeRoy

Publisher: Oxford University Press

ISBN: 0199359105

Category: Medical

Page: 256

View: 391

Genetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes. With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education. It will be an invaluable resource to the next generation of genetic counseling and its surrounding disciplines.

Foundations of Perinatal Genetic Counseling

Author: Amber Mathiesen,Kali Roy

Publisher: Oxford University Press

ISBN: 0190681098

Category: Medical

Page: 288

View: 6098

An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: - the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management - preimplantation and prenatal genetic screening and diagnosis - the structure and goals of a genetic counseling appointment - common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.

A Practical Guide to Human Cancer Genetics

Author: S. V. Hodgson

Publisher: Cambridge University Press

ISBN: 052168563X

Category: Medical

Page: 395

View: 643

The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.

The Practical Guide to the Genetic Family History

Author: Robin L. Bennett

Publisher: John Wiley & Sons

ISBN: 1118209818

Category: Medical

Page: 386

View: 4635

Helps you develop and assess pedigrees to make diagnoses,evaluate risk, and counsel patients The Second Edition of The Practical Guide to the GeneticFamily History not only shows how to take a medical-familyhistory and record a pedigree, but also explains why each bit ofinformation gathered is important. It provides essential support indiagnosing conditions with a genetic component. Moreover, it aidsin recommending genetic testing, referring patients for geneticcounseling, determining patterns of inheritance, calculating riskof disease, making decisions for medical management andsurveillance, and informing and educating patients. Based on theauthor's twenty-five years as a genetic counselor, the book alsohelps readers deal with the psychological, social, cultural, andethical problems that arise in gathering a medical-family historyand sharing findings with patients. Featuring a new Foreword by Arno Motulsky, widely recognized asthe founder of medical genetics, and completely updated to reflectthe most recent findings in genetic medicine, this SecondEdition presents the latest information and methods forpreparing and assessing a pedigree, including: Value and utility of a thorough medical-family history Directed questions to ask when developing a medical-familyhistory for specific disease conditions Use of pedigrees to identify individuals with an increasedsusceptibility to cancer Verification of family medical information Special considerations when adoptions or gamete donors areinvolved Ethical issues that may arise in recording a pedigree Throughout the book, clinical examples based on hypotheticalfamilies illustrate key concepts, helping readers understand howreal issues present themselves and how they can be resolved. This book will enable all healthcare providers, includingphysicians, nurses, medical social workers, and physicianassistants, as well as genetic counselors, to take full advantageof the pedigree as a primary tool for making a genetic riskassessment and providing counseling for patients and theirfamilies.

Vademecum metabolicum

Diagnose und Therapie erblicher Stoffwechselkrankheiten

Author: Johannes Zschocke,Georg Friedrich Hoffmann

Publisher: Schattauer Verlag

ISBN: 3794528158

Category:

Page: 174

View: 9612

Practical Guide to Neurogenetics E-Book

Author: Thomas T. Warner,Simon R. Hammans

Publisher: Elsevier Health Sciences

ISBN: 0702038458

Category: Medical

Page: 344

View: 3447

This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.

Zwischen Wasser und Urwald

Erlebnisse und Beobachtungen eines Arztes im Urwald Äquatorialafrikas

Author: Albert Schweitzer

Publisher: C.H.Beck

ISBN: 340670090X

Category: Medical

Page: 151

View: 4418

Der junge Theologieprofessor Albert Schweitzer brach im Jahre 1905 seine akademische Karriere ab, studierte Medizin und schiffte sich 1913 nach Afrika ein, um im Dienst der französischen Missionsgesellschaft im Urwald Äquatorialafrikas eine medizinische Station aufzubauen. 1920 verfaßte er seinen berühmten Bericht "Zwischen Wasser und Urwald" über die ersten Jahre in Lambarene. "Der Leser versteht, daß Schweitzer während seines hilfreichen Wirkens für seine afrikanischen Patienten viel für seine eigene Person gelernt hat. Er selbst brauchte Lambarene, um zu erproben, inwieweit er fähig war, die Idee der Solidarität mit der Bevölkerung der später so genannten Dritten Welt glaubwürdig anzuwenden. Erst durch das Bestehen der Praxis gewann er die Sicherheit und Überzeugungskraft für seine großartige 'Ethik der Ehrfurcht vor dem Leben', die nicht nur das menschliche, sondern das Leben der Schöpfung im Ganzen meint." Horst Eberhard Richter

Cardiovascular Genetics and Genomics in Clinical Practice

Author: Donna K. Arnett, PhD,Sanjiv J. Shah, MD

Publisher: Demos Medical Publishing

ISBN: 1617051780

Category: Medical

Page: 246

View: 7105

Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice

A Guide to Genetic Counseling

Author: Wendy R. Uhlmann,Jane L. Schuette,Beverly Yashar

Publisher: John Wiley & Sons

ISBN: 1118210530

Category: Medical

Page: 644

View: 5087

The first book devoted exclusively to the principles andpractice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counselingquickly became a bestselling and widely recognized text, usednationally and internationally in genetic counseling trainingprograms. Now in its eagerly anticipated Second Edition, itprovides a thoroughly revised and comprehensive overview of geneticcounseling, focusing on the components, theoretical framework, andunique approach to patient care that are the basis of thisprofession. The book defines the core competencies and covers thegenetic counseling process from case initiation tocompletion—in addition to addressing global professionalissues—with an emphasis on describing fundamental principlesand practices. Chapters are written by leaders in the field of geneticcounseling and are organized to facilitate academic instruction andskill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs onthe syllabi of all medical and human genetics and geneticcounseling training programs. It is an indispensable reference forboth students and healthcare professionals working with patientswho have or are at risk for genetic conditions.

Entwicklungspsychologie im Kindes- und Jugendalter

Author: Robert Siegler,Nancy Eisenberg,Judy DeLoache,Jenny Saffran

Publisher: Springer-Verlag

ISBN: 3662470284

Category: Psychology

Page: 688

View: 2858

Wer dieses Standardwerk liest, erhält einen umfassenden Überblick über einschlägige Theorien, moderne Forschungsmethoden und neueste Erkenntnisse zur Kindes- und Jugendentwicklung. Die einfache, klare Sprache sowie zahlreiche Illustrationen und Fallbeispiele machen die Lektüre des Lehrbuchs für Studierende der Entwicklungspsychologie zum echten Vergnügen. Tabellen, Schaubilder, Zusammenfassungen und Praxisbeispiele helfen dabei, den Stoff zu verstehen, zu strukturieren und zu verinnerlichen. Die Inhalte des Werkes gehen dabei teilweise deutlich über den klassischen Lehrstoff für Bachelor-Prüfungen hinaus und vermitteln ein vertieftes Verständnis dafür, wie die Entwicklung in unterschiedlichen Bereichen zusammenhängt, von welchen sozialen und gesellschaftlichen Rahmenbedingungen sie abhängt und wie die Entstehung von Problemen verhindert werden kann. Die Auseinandersetzung mit dieser Lektüre lohnt sich daher nicht nur für die Prüfungsvorbereitung im Bachelor- und Masterstudium. Auch wenn Sie bereits beruflich oder privat mit Kindern und Jugendlichen zu tun haben, wird Ihnen das Buch als wertvolles Nachschlagewerk dienen und immer wieder Lust machen, sich mit den Inhalten auseinanderzusetzen.

Grounded theory

Strategien qualitativer Forschung

Author: Barney G. Glaser,Anselm L. Strauss,Axel T. Paul

Publisher: N.A

ISBN: 9783456849065

Category:

Page: 278

View: 9572

Der Klassiker über den qualitativen Forschungsansatz der "Grounded Theory", geschrieben von den Entwicklern dieser Methode "Obwohl unser Buch sich in erster Linie an Soziologen richtet, glauben wir, dass es jedem nutzen kann, der daran interessiert ist, soziale Phänomene zu untersuchen politischer, pädagogischer, wirtschaftlicher, industrieller oder welcher Art auch immer." In der Tat ist "Grounded Theory" quer durch die wissenschaftlichen Disziplinen zum Standardbegriff der qualitativen Sozialforschung ge - worden. Die inzwischen zum Klassiker avancierte Arbeit von Glaser und Strauss eröffnet eine lehrbare und auch lernbare Forschungsstrategie. Das Konzept bietet eine Antwort auf das Problem, die oft schmerzlich empfundene Lücke zwischen empirischer Forschung und Theorie zu schliessen.

Oxford Desk Reference: Clinical Genetics and Genomics

Author: Helen V. Firth,Jane A. Hurst

Publisher: Oxford University Press

ISBN: 0199557500

Category:

Page: 936

View: 2338

A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.

How to Talk with Families About Genetics and Psychiatric Illness

Author: Holly Landrum Peay,Jehannine Claire Austin

Publisher: W. W. Norton & Company

ISBN: 0393706796

Category: Psychology

Page: 280

View: 6857

Addressing clients’ questions and concerns about the role of genetics in mental illness. As we learn more about how our biology and genes can play into the development of a mental health disorder, patients and their families are increasingly seeking answers to tough questions about common risk factors, the likelihood of recurrence, the need for genetic testing, and implications for future generations. A practical, go-to resource for all mental health clinicians, this guide explains just how to address these questions and concerns in a way that’s comprehensible and compassionate. Filled with case studies, sample dialogues, and question-and-answer examples, it is an essential roadmap for practitioners, helping them to demystify a complex issue for their clients and equip them with the accurate, reassuring information they need.

Molekulare Humangenetik

Author: Tom Strachan,Andrew P. Read

Publisher: Spektrum Akademischer Verlag

ISBN: 9783827414939

Category: Science

Page: 802

View: 9372

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.

Genetic Counseling for Clinicians

Author: Kenneth L. Garver,Sandra G. Marchese

Publisher: Year Book Medical Pub

ISBN: N.A

Category: Medical

Page: 356

View: 4530

Principles of Clinical Genetics

Author: Yogesh Ashok Sontakke

Publisher: JP Medical Ltd

ISBN: 9352701887

Category: Medical

Page: 136

View: 3633

This book is a practical guide to the field of genetics for undergraduate medical students. Beginning with a general overview, the following sections guide students through topics such as chromosomes, DNA structure, inheritance patterns, and metabolism, to cancer genetics, gene therapy and stem cell therapy. The text is enhanced by flow charts and illustrations and most sections feature questions to assist understanding and revision. The book concludes with ten annexures covering exam-related topics such as DNA fingerprinting, twins, immunogenetics, cloning, and more. A free poster summarising key facts of clinical genetics is provided with the book. Key points Practical guide to genetics for undergraduate medical students Each chapter features questions to assist revision Ten annexures cover exam-related topics Includes free poster summarising key facts of clinical genetics

Inherited Metabolic Epilepsies

Author: Phillip L. Pearl, MD

Publisher: Demos Medical Publishing

ISBN: 1617050563

Category: Medical

Page: 312

View: 5903

The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy

The Design of Everyday Things

Psychologie und Design der alltäglichen Dinge

Author: Norman Don

Publisher: Vahlen

ISBN: 3800648105

Category: Business & Economics

Page: 320

View: 1259

Apple, Audi, Braun oder Samsung machen es vor: Gutes Design ist heute eine kritische Voraussetzung für erfolgreiche Produkte. Dieser Klassiker beschreibt die fundamentalen Prinzipien, um Dinge des täglichen Gebrauchs umzuwandeln in unterhaltsame und zufriedenstellende Produkte. Don Norman fordert ein Zusammenspiel von Mensch und Technologie mit dem Ziel, dass Designer und Produktentwickler die Bedürfnisse, Fähigkeiten und Handlungsweisen der Nutzer in den Vordergrund stellen und Designs an diesen angepasst werden. The Design of Everyday Things ist eine informative und spannende Einführung für Designer, Marketer, Produktentwickler und für alle an gutem Design interessierten Menschen. Zum Autor Don Norman ist emeritierter Professor für Kognitionswissenschaften. Er lehrte an der University of California in San Diego und der Northwest University in Illinois. Mitte der Neunzigerjahre leitete Don Norman die Advanced Technology Group bei Apple. Dort prägte er den Begriff der User Experience, um über die reine Benutzbarkeit hinaus eine ganzheitliche Erfahrung der Anwender im Umgang mit Technik in den Vordergrund zu stellen. Norman ist Mitbegründer der Beratungsfirma Nielsen Norman Group und hat unter anderem Autohersteller von BMW bis Toyota beraten. „Keiner kommt an Don Norman vorbei, wenn es um Fragen zu einem Design geht, das sich am Menschen orientiert.“ Brand Eins 7/2013 „Design ist einer der wichtigsten Wettbewerbsvorteile. Dieses Buch macht Spaß zu lesen und ist von größter Bedeutung.” Tom Peters, Co-Autor von „Auf der Suche nach Spitzenleistungen“