The Principles of Clinical Cytogenetics

Author: Steven L. Gersen,Martha B. Keagle

Publisher: Springer Science & Business Media

ISBN: 1441916881

Category: Medical

Page: 569

View: 4692

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In this thoroughly revised and expanded third edition of the highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their descriptions of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full chapter devoted to advances in chromosome microarray, soon to become a standard of care in this field, as well as an update on chromosome nomenclature as reflected in ISCN 2009. Other features include an update on automation to reflect the current state of the art, an update on hematopoietic neoplasms to reflect the new WHO guidelines, and updates on all regulatory changes that have been implemented. Cutting edge and readily accessible, The Principles of Clinical Cytogenetics, Third Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, graduate and medical students studying for board examinations, cytogenetics technologists, and cytogeneticists a clear understanding of what happens in the cytogenetics laboratory to facilitate accurate and timely diagnoses.

Clinical Cytogenetics, An Issue of Clinics in Laboratory Medicine - E-Book

Author: Caroline Astbury

Publisher: Elsevier Health Sciences

ISBN: 1455709352

Category: Medical

Page: 385

View: 1210

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This issue of Clinics in Laboratory Medicine, Guest Edited by Caroline Astbury, PhD, FACMG, will focus on Cytogenetics, with topics including: Chronic lymphocytic leukemia; Acute lymphocytic leukemia; Acute myelogenous leukemia; Chronic myelogenous leukemia; Plasma cell myeloma; Lymphomas; Solid tumors; Myelodysplastic syndromes; SNP arrays in clinical practice; Prenatal arrays; FISH (including Paraffin-embedded (PET) FISH); New and old microdeletion and microduplication syndromes; Sex chromosome and sex chromosome abnormalities; Autosomal aneuploidy; Microarray-CGH interpretation and Genomic Integrity; Structural chromosome rearrangements and complex chromosome rearrangements; and UPD/imprinting.

Molekulare Humangenetik

Author: Tom Strachan,Andrew P. Read

Publisher: Spektrum Akademischer Verlag

ISBN: 9783827414939

Category: Science

Page: 802

View: 8430

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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.

Manual of Cytogenetics in Reproductive Biology

Author: Pankaj Talwar

Publisher: JP Medical Ltd

ISBN: 9350909928

Category: Medical

Page: 332

View: 3887

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Examines the diagnostic role of cytogenetics in improving the outcome of assisted reproductive technologies (ART). Covers basics of genetics, followed by investigative cytogenetics, applied cytogenetics, recent advances, preimplantation and prenatal cytogenetics.

Emery's Elements of Medical Genetics E-Book

Author: Peter D Turnpenny,Sian Ellard

Publisher: Elsevier Health Sciences

ISBN: 0702045055

Category: Science

Page: 464

View: 7119

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Master the genetics you need to know with the updated 14th Edition of Emery’s Elements of Medical Genetics by Drs. Peter Turnpenny and Sian Ellard. Review the field’s latest and most important topics with user-friendly coverage designed to help you better understand and apply the basic principles of genetics to clinical situations. Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, and end-of-chapter summaries. With this highly visual, award-winning classic in your hands, you have all the genetics knowledge you need for exams or practice. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Get a broad view of medical genetics with a unique three-part structure that looks at the Principles of Human Genetics, Genetics in Medicine, and Clinical Genetics. Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. Master the material you need to know with a title preferred by faculty and students alike over the last three decades and awarded the British Medical Association Medial Student Textbook of the Year in 2008. Access to www.studentconsult.com, including 150 USMLE-style multiple choice questions to aid study and self-testing. Apply the latest research with chapters on developmental genetics, cancer genetics, prenatal testing and reproduction genetics, ‘clonal’ sequencing, and more. Understand complex concepts with the help of an increased number of diagrams. Be fully aware of social, ethical, and counseling issues by reviewing an improved section on these topics.

Vertigo

Leitsymptom Schwindel

Author: Thomas Brandt,Marianne Dieterich,Michael Strupp

Publisher: Springer-Verlag

ISBN: 366213375X

Category: Medical

Page: 151

View: 7715

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Schwindel ist nach Kopfschmerz das zweithäufigste Leitsymptom. Die meisten Schwindelsyndrome lassen sich nach sorgfältiger Anamnese diagnostisch korrekt einordnen und haben meist eine gutartige Ursache, einen günstigen Verlauf und lassen sich erfolgreich therapieren. Schwindel ist keine Krankheitseinheit, sondern ein unspezifisches Syndrom verschiedener Erkrankungen unterschiedlicher Ätiologien. Deshalb wendet sich dieses klinisch orientierte Buch an Ärzte der verschiedenen Fachrichtungen, die Patienten mit Schwindel versorgen, und an Studenten. Im allgemeinen Teil werden die Funktionsweisen des vestibulären Systems und seine Störungen, die pathophysiologischen Mechanismen, die diagnostischen Merkmale, der Untersuchungsgang, die apparative Diagnostik und die therapeutischen Prinzipien beschrieben. Die Darstellung der wichtigsten Krankheitsbilder erfolgt nach einem einheitlichen Schema: Anamnese, Klinik und Verlauf, Pathophysiologie und therapeutische Prinzipien, pragmatische Therapie, Wirksamkeit sowie Differenzialdiagnose und klinische Probleme. Besonderer Wert wird auf die Therapiemöglichkeiten medikamentös, physikalisch, operativ oder psychotherapeutisch gelegt. Die begleitende DVD enthält typische Anamnesen und Untersuchungsbefunde zu den einzelnen Krankheitsbildern.

Handbook of Clinical Laboratory Testing During Pregnancy

Author: Ann M. Gronowski

Publisher: Springer Science & Business Media

ISBN: 1592597874

Category: Medical

Page: 454

View: 1105

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Practicing specialists in pathology, laboratory medicine, and obstetrics comprehensively summarize the latest scientific findings and their experiences in the use and interpretation of laboratory testing in patients who are pregnant or experiencing recurrent pregnancy loss. Topics of interest include the effects of normal physiological changes on test results, test selection for diagnosis, changes in reference ranges, monitoring the pregnant patient, new technologies, and the limitations of laboratory testing. The authors not only clearly explain currently used test methods and technologies for the nontechnical reader, but also provide comprehensive details for laboratory professionals. The comprehensive appendix that compiles published normal reference ranges by first, second, and third trimester consttitutes an excellent resource for professionals caring for pregnant women.

Cytogenetic Laboratory Management

Chromosomal, FISH and Microarray-Based Best Practices and Procedures

Author: Susan Mahler Zneimer

Publisher: John Wiley & Sons

ISBN: 1119069742

Category: Science

Page: 840

View: 7365

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Cytogenetic Laboratory Management: Chromosomal, FISH and Microarray-Based Best Practices and Procedures is a practical guide that describes how to develop and implement best practice processes and procedures in the genetic laboratory setting. The text first describes good laboratory practices, including quality management, design control of tests and FDA guidelines for laboratory developed tests, and pre-clinical validation study designs. The second focus of the book describes best practices for staffing and training, including cost of testing, staffing requirements, process improvement using Six Sigma techniques, training and competency guidelines and complete training programs for cytogenetic and molecular genetic technologists. The third part of the text provides step-wise standard operating procedures for chromosomal, FISH and microarray-based tests, including pre-analytic, analytic and post-analytic steps in testing, and divided into categories by specimen type, and test-type. All three sections of the book include example worksheets, procedures, and other illustrative examples that can be downloaded from the Wiley website to be used directly without having to develop prototypes in your laboratory. Providing both a wealth of information on laboratory management and molecular and cytogenetic testing, Cytogenetic Laboratory Management will be an essential tool for laboratorians world-wide in the field of laboratory testing and genetics testing in particular. This book gives the essentials of: Developing and implementing good quality management programs in laboratories Understanding design control of tests and pre-clinical validations studies and reports FDA guidelines for laboratory developed tests Use of reagents, instruments and equipment Cost of testing assessment and process improvement using Six Sigma methodology Staffing training and competency objectives Complete training programs for molecular and cytogenetic technologists Standard operating procedures for all components of chromosomal analysis, FISH and microarray testing of different specimen types This volume is a companion to Cytogenetic Abnormalities: Chromosomal, FISH and Microarray-Based Clinical Reporting. The combined volumes give an expansive approach to performing, reporting and interpreting cytogenetic laboratory testing and the necessary management practices, staff and testing requirements.

Clinical Genetics in Nursing Practice

Third Edition

Author: Felissa R. Lashley, PhD, RN, FABMGG

Publisher: Springer Publishing Company

ISBN: 9780826123671

Category: Medical

Page: 584

View: 6923

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Designated a Doody's Core Title! The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview. Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

Chromosomal Alterations

Methods, Results and Importance in Human Health

Author: Günter Obe,Vijayalaxmi

Publisher: Springer Science & Business Media

ISBN: 3540714146

Category: Science

Page: 515

View: 5574

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The book helps the reader to better understand cytogenetics and the intricacies of the methodology. The different methods of fluorescence in situ hybridization are discussed and the results achieved are presented. The book provides a comprehensive review of basic and applied aspects of cytogenetics and thus is of intense interest to all those interested in chromosomes and their alterations by different types of mutagens, including chemical mutagens and ionizing and nonionizing radiation, with special reference to electromagnetic fields.

Henry's Clinical Diagnosis and Management by Laboratory Methods E-Book

Author: Richard A. McPherson,Matthew R. Pincus

Publisher: Elsevier Health Sciences

ISBN: 1455726842

Category: Medical

Page: 1568

View: 3166

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Recognized as the definitive book in laboratory medicine since 1908, Henry’s Clinical Diagnosis and Management by Laboratory Methods, edited by Richard A. McPherson, MD and Matthew R. Pincus, MD, PhD, is a comprehensive, multidisciplinary pathology reference that gives you state-of-the-art guidance on lab test selection and interpretation of results. Revisions throughout keep you current on the latest topics in the field, such as biochemical markers of bone metabolism, clinical enzymology, pharmacogenomics, and more! A user-friendly full-color layout puts all the latest, most essential knowledge at your fingertips. Update your understanding of the scientific foundation and clinical application of today's complete range of laboratory tests. Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. Reference the information you need quickly and easily thanks to a full-color layout, many new color illustrations and visual aids, and an organization by organ system. Master all the latest approaches in clinical laboratory medicine with new and updated coverage of: the chemical basis for analyte assays and common interferences; lipids and dyslipoproteinemia; markers in the blood for cardiac injury evaluation and related stroke disorders; coagulation testing for antiplatelet drugs such as aspirin and clopidogrel; biochemical markers of bone metabolism; clinical enzymology; hematology and transfusion medicine; medical microbiology; body fluid analysis; and many other rapidly evolving frontiers in the field. Effectively monitor the pace of drug clearing in patients undergoing pharmacogenomic treatments with a new chapter on this groundbreaking new area. Apply the latest best practices in clinical laboratory management with special chapters on organization, work flow, quality control, interpretation of results, informatics, financial management, and establishing a molecular diagnostics laboratory. Confidently prepare for the upcoming recertification exams for clinical pathologists set to begin in 2016.

Moderate Preterm, Late Preterm, and Early Term Births, An Issue of Clinics in Perinatology,

Author: Lucky Jain,Tonse N. K. Raju

Publisher: Elsevier Health Sciences

ISBN: 0323261213

Category: Medical

Page: 233

View: 5478

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This issue is expected to be in high demand, being extremely valuable to both neonatologists and maternal-fetal medicine physicians. The Guest Editors have put together a very comprehensive issue that looks at the premature infant. Topics include: Moderate Preterm. Late Preterm and Early Term Births: Epidemiology and Trends; Stillbirth Reduction Efforts and Impact on Early Births; Management of Indicated Early Term and Late Preterm Births; Physiological Underpinnings for Clinical Problems in Moderately Preterm, Late Preterm;Brain Maturation in the Second of Half of Pregnancy; Respiratory Disorders in Moderately Preterm, Late Preterm and Early Term Infants; Metabolic and Neurologic Issues in Moderately Preterm, Late Preterm and Early Term Infants; and Quality Initiatives Related to Moderately Preterm, Late Preterm and Early Term Births.

Geschichte der Universität in Europa

Author: Walter Rüegg,Asa Briggs

Publisher: C.H.Beck

ISBN: 9783406369537

Category: Education, Higher

Page: 542

View: 5998

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Dieses auf vier Bände angelegte Werk ist eine Geschichte der "Institution Universität" in Europa von ihrer Entstehung im Mittelalter bis in die heutige Zeit und zugleich eine vergleichende Geschichte der europäischen Universitäten sowie der außereuropäischen Universitäten, die nach europäischem Muster gegründet worden sind. Es wird auf Initiative der europäischen Rektorenkonferenz (CRE), der über 500 wissenschaftliche Hochschulen in 27 europäischen Staaten angehören, von einem internationalen Komitee namhafter Wissenschaftler unter dem Vorsitz von Walter Rüegg (Schweiz) herausgegeben. Absicht dieses Gemeinschaftswerkes ist es, die gesellschaftlichen Rahmenbedingungen und Aufgaben, die Merkmale geistiger und institutioneller Identität, die Strukturen, Gestaltungen und Hauptprobleme der europäischen Universitäten in ihren geschichtlichen Grundlagen und Veränderungen, aber auch in ihren regionalen Unterschieden, auf dem heutigen Forschungsstand vergleichend und zusammenfassend darzustellen.

Thompson & Thompson Genetics in Medicine E-Book

Author: Robert L. Nussbaum,Roderick R. McInnes,Huntington F Willard

Publisher: Elsevier Health Sciences

ISBN: 1437700934

Category: Medical

Page: 600

View: 7114

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Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.