| chromosome analysis peripheral blood: The AGT Cytogenetics Laboratory Manual Marilyn S. Arsham, Margaret J. Barch, Helen J. Lawce, 2017-04-24 Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting. |
| chromosome analysis peripheral blood: Cellular Transforming Genes , 1986 |
| chromosome analysis peripheral blood: Screening for Down's Syndrome J. G. Grudzinskas, 1994-11-17 This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care. |
| chromosome analysis peripheral blood: Chronic Lymphocytic Leukemia Sami Malek, 2018 |
| chromosome analysis peripheral blood: Diagnostic Cytogenetics Rolf-Dieter Wegner, 2013-11-11 Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics. |
| chromosome analysis peripheral blood: Chromosome Analysis Eisuke Gotoh, 2022-09-06 This volume provides essential and fundamental protocols on manipulation chromosome. Chapters details methods on the preparation of mitotic chromosome, chromosome aberration, micronucleus (MN), comet assay, karyotyping, Fluorescent in situ hybridization (FISH), premature chromosome condensation (PCC), immunohistochemistry (IHC) staining, new generation sequencing technology and new chromosome concepts, such as epigenetic and its cause of cancer are presented. Written in the format of the highly successful Methods in Molecular Biology series, each chapter includes an introduction to the topic, lists necessary materials and reagents, includes tips on troubleshooting and known pitfalls, and step-by-step, readily reproducible protocols. Authoritative and cutting-edge, Chromosome Analysis: Methods and Protocols aims to be a useful and practical guide to new researchers and experts looking to expand their knowledge. |
| chromosome analysis peripheral blood: Cytogenomics Thomas Liehr, 2021-05-25 Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field |
| chromosome analysis peripheral blood: Chromosome Analysis Protocols John R. Gosden, 2008-02-02 Chromosomes, as the genetic vehicles, provide the basic material for a large proportion of genetic investigations, from the construction of gene maps and models of chromosome organization, to the inves tigation of gene function and dysfunction. The study of chromosomes has developed in parallel with other aspects of molecular genetics, beginning with the first preparations of chromosomes from animal cells, through the development of banding techniques, which permitted the unequivocal identification of each chromosome in a karyotype, to the present analytical methods of molecular cytogenetics. Although some of these techniques have been in use for many years, and can be learned relatively easily, most published scientific reports—as a result of pressure on space from editors, and the response to that pressure by authors—contain little in the way of technical detail, and thus are rarely adequate for a researcher hoping to find all the necessary information to embark on a method from scratch. A new user needs not only a detailed description of the methods, but also some help with problem solving and sorting out the difficulties en countered in handling any biological system. This was the require ment to which the series Methods in Molecular Biology is addressed, and Chromosome Analysis Protocols forms a part of this series. |
| chromosome analysis peripheral blood: Neuroacanthocytosis Syndromes Adrian Danek, 2004-11-19 Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington's disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroacanthocytosis and provides in-depth information about the state of the art. Its thirty chapters were written by the leading authorities in the field to cover the clinical as well as the basic science perspective, including not only molecular genetics but also experimental pharmacology and cell membrane biology, among others. The book vehemently poses the question of how the membrane deformation of circulating red blood cells relates to degeneration of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes. |
| chromosome analysis peripheral blood: Pediatric Cancer Genetics Nathaniel H. Robin, Meagan Farmer, 2017-08-22 Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counsellors - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples - Consolidates today's available information and guidance in this timely area into one convenient resource - Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. - Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. - Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. - Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. - Consolidates today's available information and guidance in this timely area into one convenient resource. |
| chromosome analysis peripheral blood: Handbook of Mutagenicity Test Procedures B.J. Kilbey, M. Legator, W. Nicholson, C. Ramel, 2012-12-02 The compilation of this book was prompted by the necessity of a bench volume which could provide the necessary background information on materials, experimental design, pitfalls and dificulties, in order to perform a particular test in an acceptable way with a minimal need for additional expert help. This Second Edition updates this information, providing: - a comprehensive bench guide - methods known to be reliable - a broad spectrum of approaches - tips to avoid pitfalls when using unfamiliar techniques - data from population records - safety aspects of mutagens and carcinogens - basic statistical concepts for experiment design This `on the bench' methodological text provides the necessary information for most of the common assays for genetic damage in use. The book includes methods which have been sufficiently used and tested to make their use reliable, but also presents methods which are not widely used at present, but which might prove most useful in screening for mutagenic effects. |
| chromosome analysis peripheral blood: Chromosome Banding Adrian Thomas Sumner, 1990-11-22 |
| chromosome analysis peripheral blood: Chromosome Abnormalities and Genetic Counseling R.J. MKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer, 2012 Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families. |
| chromosome analysis peripheral blood: Dacie and Lewis Practical Haematology E-Book Barbara J. Bain, Imelda Bates, Mike A Laffan, 2016-08-11 For more than 65 years, this best-selling text by Drs. Barbara J. Bain, Imelda Bates, and Mike A. Laffan has been the worldwide standard in laboratory haematology. The 12th Edition of Dacie and Lewis Practical Haematology continues the tradition of excellence with thorough coverage of all of the techniques used in the investigation of patients with blood disorders, including the latest technologies as well as traditional manual methods of measurement. You'll find expert discussions of the principles of each test, possible causes of error, and the interpretation and clinical significance of the findings. - A unique section on haematology in under-resourced laboratories. - Ideal as a laboratory reference or as a comprehensive exam study tool. - diagnosis, molecular testing, blood transfusion- and much more. - Complete coverage of the latest advances in the field. - An expanded section on coagulation now covers testing for new anticoagulants and includes clinical applications of the tests. |
| chromosome analysis peripheral blood: Childhood Acute Lymphoblastic Leukemia Ajay Vora, 2017-04-21 This book provides a comprehensive and up-to-date review of all aspects of childhood Acute Lymphoblastic Leukemia, from basic biology to supportive care. It offers new insights into the genetic pre-disposition to the condition and discusses how response to early therapy and its basic biology are utilized to develop new prognostic stratification systems and target therapy. Readers will learn about current treatment and outcomes, such as immunotherapy and targeted therapy approaches. Supportive care and management of the condition in resource poor countries are also discussed in detail. This is an indispensable guide for research and laboratory scientists, pediatric hematologists as well as specialist nurses involved in the care of childhood leukemia. |
| chromosome analysis peripheral blood: Textbook of Human Reproductive Genetics Karen Sermon, Stéphane Viville, 2014-04-10 This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics. |
| chromosome analysis peripheral blood: Chromosome identification: Medicine and Natural Sciences Torbjoern Caspersson, 1973-01-01 Chromosome Identification—Technique and Applications in Biology and Medicine contains the proceedings of the Twenty-Third Nobel Symposium held at the Royal Swedish Academy of Sciences in Stockholm, Sweden, on September 25-27,1972. The papers review advances in chromosome banding techniques and their applications in biology and medicine. Techniques for the study of pattern constancy and for rapid karyotype analysis are discussed, along with cytological procedures; karyotypes in different organisms; somatic cell hybridization; and chemical composition of chromosomes. This book is comprised of 51 chapters divided into nine sections and begins with a survey of the cytological procedures, including fluorescence banding techniques, constitutive heterochromatin (C-band) technique, and Giemsa banding technique. The following chapters explore computerized statistical analysis of banding pattern; the use of distribution functions to describe integrated profiles of human chromosomes; the uniqueness of the human karyotype; and the application of somatic cell hybridization to the study of gene linkage and complementation. The mechanisms for certain chromosome aberration are also analyzed, together with fluorescent banding agents and differential staining of human chromosomes after oxidation treatment. This monograph will be of interest to practitioners in the fields of biology and medicine. |
| chromosome analysis peripheral blood: Cancer Cytogenetics Sverre Heim, Felix Mitelman, 2015-06-29 The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible |
| chromosome analysis peripheral blood: Genetic Toxicology Testing Ray Proudlock, 2016-05-28 Genetic Toxicology Testing: A Laboratory Manual presents a practical guide to genetic toxicology testing of chemicals in a GLP environment. The most commonly used assays are described, from laboratory and test design to results analysis. In a methodical manner, individual test methods are described step-by-step, along with equipment, suggested suppliers, recipes for reagents, and evaluation criteria. An invaluable resource in the lab, this book will help to troubleshoot any assay problems you may encounter to optimise quality and efficiency in your genetic toxicology tests. Genetic Toxicology Testing: A Laboratory Manual is an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own. - Offers practical and consistent guidance on the most commonly-performed tests and procedures in a genetic toxicology lab - Describes standard genetic toxicology assays, their methodology, reagents, suppliers, and analysis of their results - Includes guidance on general approaches: formulation for in vitro assays, study monitoring, and Good Laboratory Practice (GLP) - Serves as an essential reference for those new to the genetic toxicology laboratory, or anyone involved in setting up their own lab |
| chromosome analysis peripheral blood: Practical Soft Tissue Pathology: A Diagnostic Approach E-Book Jason L. Hornick, 2017-11-14 Part of the in-depth and practical Pattern Recognition series, Practical Surgical Soft Tissue Pathology, 2nd Edition, helps you arrive at an accurate diagnosis by using a proven pattern-based approach. Leading diagnosticians guide you through the most common patterns seen in soft tissue pathology, applying appropriate immunohistochemistry and molecular testing, avoiding pitfalls, and making the best diagnosis. High-quality illustrations capture key morphologic patterns for a full range of common and rare tumor types, and a visual index at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. - A consistent chapter organization by histologic pattern considers soft tissue tumors the way you approach them in daily practice, helping you arrive at a quick and accurate diagnosis. - A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables and text boxes, so you can quickly and easily find what you are looking for. - Sweeping content updates keep you at the forefront of recent findings regarding all major neoplastic and non-neoplastic diseases of the soft tissues. - Improved pattern call-outs are now linked directly within the chapter, reinforcing the patterns for more efficient and complete understanding. - Expert ConsultTM eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. |
| chromosome analysis peripheral blood: Cancer Cytogenetics John Swansbury, 2008-02-05 A collection of key cytogenetic and FISH techniques used by modern clinical laboratories in the genetic analysis of human malignancies. The book's practical advice and methods are suitable for use at every level of expertise, including fully established laboratories, but with a sympathetic bias towards anyone considering setting up a new cytogenetics service. Here the reader will find not only elementary tutorials on the fundamentals of human karyotypes and chromosome analysis, but also detailed discussions on how laboratories may optimally upgrade their repertoire of capabilities to include such newer complementary techniques as CGH, FISH, and M-FISH. |
| chromosome analysis peripheral blood: Diagnostic Molecular Biology Chang-Hui Shen, 2023-06-29 Diagnostic Molecular Biology, Second Edition describes the fundamentals of molecular biology in a clear, concise manner with each technique explained within its conceptual framework and current applications of clinical laboratory techniques comprehensively covered. This targeted approach covers the principles of molecular biology, including basic knowledge of nucleic acids, proteins and chromosomes; the basic techniques and instrumentations commonly used in the field of molecular biology, including detailed procedures and explanations; and the applications of the principles and techniques currently employed in the clinical laboratory. Topics such as whole exome sequencing, whole genome sequencing, RNA-seq, and ChIP-seq round out the discussion. Fully updated, this new edition adds recent advances in the detection of respiratory virus infections in humans, like influenza, RSV, hAdV, hRV but also corona. This book expands the discussion on NGS application and its role in future precision medicine. - Provides explanations on how techniques are used to diagnosis at the molecular level - Explains how to use information technology to communicate and assess results in the lab - Enhances our understanding of fundamental molecular biology and places techniques in context - Places protocols into context with practical applications - Includes extra chapters on respiratory viruses (Corona) |
| chromosome analysis peripheral blood: Hematopathology Faramarz Naeim, P. Nagesh Rao, Wayne W. Grody, 2009-03-05 This comprehensive, full color hematopathology reference book emphasizes immunophenotpic features, cytogenetic studies, and diagnostic molecular aspects. Hematopathology begins with introductions to morphologic evaluation of the hematopoietic tissues and principles of immunophenotyping, cytogenetics and molecular studies followed by chapters dedicated to different types of hematologic disorders. Each chapter starts with a basic overview of hematopathlogy followed by a comprehensive review of immunophenotypic, cytogenetic and molecular findings. The text is balanced with large numbers of full color images, graphs, charts, and tables to assist the reader in understanding these highly technical issues. - Emphasizes the immunophenotypic features, cytogenetic studies, and diagnostic molecular aspects of hematology - Features hundreds of images, charts and tables for the identification of hematologic disorders not only based on histopathologic features, but also with the use of advanced accessory techniques |
| chromosome analysis peripheral blood: Molecular Genetic Pathology Liang Cheng, David Y. Zhang, John N. Eble, 2013-03-05 Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification. |
| chromosome analysis peripheral blood: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody, 2024-10-23 For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics |
| chromosome analysis peripheral blood: OECD Guidelines for the Testing of Chemicals, Section 4 Test No. 474: Mammalian Erythrocyte Micronucleus Test OECD, 2016-07-29 The mammalian in vivo micronucleus test is used for the detection of damage induced by the test substance to the chromosomes or the mitotic apparatus of erythroblasts, by analysis of erythrocytes as sampled in bone marrow and/or peripheral blood cells of animals, usually rodents (mice or rats). |
| chromosome analysis peripheral blood: The Principles of Clinical Cytogenetics Steven L. Gersen, Martha B. Keagle, 1999-03-17 Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients. |
| chromosome analysis peripheral blood: Genomics, Circuits, and Pathways in Clinical Neuropsychiatry Thomas Lehner, Bruce L. Miller, Matthew W. State, 2016-06-07 This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. - Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics - Identifies key concepts, methods, and findings - Includes coverage of multiple disorders from autism to schizophrenia - Reviews specific genes associated with disorders - Discusses the genetic architecture of these syndromes - Explains how recent findings are influencing the understanding of biology - Clarifies the promise of these findings for future treatment |
| chromosome analysis peripheral blood: Andrology Eberhard Nieschlag, Hermann M. Behre, Susan Nieschlag, 2010-01-13 The decade that has passed since publication of the second edition of this textbook has not only witnessed a tremendous increase in knowledge within the ? eld of and- logy, but also seen the ? eld itself achieve a newfound status within the medical p- fession. Knowledge and status have been of mutual bene? t to the ? eld and the growing critical mass of diagnostic and therapeutic possibilities have caused andrology to be recognized as a medical subspecialty in some countries such as Germany, Poland, and Estonia. The European Academy of Andrology (EAA) served as a pacemaker for this development and continues to strive for establishment of andrology as a clinical ? eld. Well-designed curricula and qualifying examinations have contributed to the of? cial recognition of andrology as a speciality. This recognition of the ? eld helps patients with andrological problems to ? nd the specialist they seek. This textbook summarizes the current state of knowledge in the ? eld of andrology. It is a source of knowledge to all those who are or want to become andrologists. In addition, as andrology is clearly an interdisciplinary ? eld, this book may serve as a compendium and source of reference for all those physicians and biologists active in neighboring areas, who want to obtain an overview of andrology and who require information on special problems. The extensive references are timely and up to date. |
| chromosome analysis peripheral blood: Advances in Cell and Molecular Diagnostics P.B. Raghavendra, T. Pullaiah, 2018-01-02 Advances in Cell and Molecular Diagnostics brings the scientific advances in the translation and validation of cellular and molecular discoveries in medicine into the clinical diagnostic setting. It enumerates the description and application of technological advances in the field of cellular and molecular diagnostic medicine, providing an overview of specialized fields, such as biomarker, genetic marker, screening, DNA-profiling, NGS, cytogenetics, transcriptome, cancer biomarkers, prostate specific antigen, and biomarker toxicologies. In addition, it presents novel discoveries and clinical pathologic correlations, including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, and the description or polymorphisms linked to disease states. This book is a valuable resource for oncologists, practitioners and several members of the biomedical field who are interested in understanding how to apply cutting-edge technologies into diagnostics and healthcare. - Encompasses the current scientific advances in the translation and validation of cellular and molecular discoveries into the clinical diagnostic setting - Explains the application of cellular and molecular diagnostics methodologies in clinical trials - Focuses on translating preclinical tests to the bedside in order to help readers apply the most recent technologies to healthcare |
| chromosome analysis peripheral blood: Health Informatics: A Computational Perspective in Healthcare Ripon Patgiri, Anupam Biswas, Pinki Roy, 2021-01-30 This book presents innovative research works to demonstrate the potential and the advancements of computing approaches to utilize healthcare centric and medical datasets in solving complex healthcare problems. Computing technique is one of the key technologies that are being currently used to perform medical diagnostics in the healthcare domain, thanks to the abundance of medical data being generated and collected. Nowadays, medical data is available in many different forms like MRI images, CT scan images, EHR data, test reports, histopathological data and doctor patient conversation data. This opens up huge opportunities for the application of computing techniques, to derive data-driven models that can be of very high utility, in terms of providing effective treatment to patients. Moreover, machine learning algorithms can uncover hidden patterns and relationships present in medical datasets, which are too complex to uncover, if a data-driven approach is not taken. With the help of computing systems, today, it is possible for researchers to predict an accurate medical diagnosis for new patients, using models built from previous patient data. Apart from automatic diagnostic tasks, computing techniques have also been applied in the process of drug discovery, by which a lot of time and money can be saved. Utilization of genomic data using various computing techniques is another emerging area, which may in fact be the key to fulfilling the dream of personalized medications. Medical prognostics is another area in which machine learning has shown great promise recently, where automatic prognostic models are being built that can predict the progress of the disease, as well as can suggest the potential treatment paths to get ahead of the disease progression. |
| chromosome analysis peripheral blood: Human Reproductive and Prenatal Genetics Peter C.K. Leung, Jie Qiao, 2023-03-22 **Selected for Doody's Core Titles® 2024 in Clinical Genetics** Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. - Features chapter contributions from leading international scientists and clinicians - Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more - Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches - Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine |
| chromosome analysis peripheral blood: Chromosome Techniques Archarna Sharma, 2020-08-18 This laboratory manual covers the study of chromosomes in plants, animal and human systems, dealing with the protocols and principles involved. It caters to the requirements of scientists working laboratories, presenting details of the operational mechanism for use at the chromosome level. |
| chromosome analysis peripheral blood: Bone and Soft Tissue Pathology Andrew L. Folpe, MD, Carrie Y. Inwards, MD, 2009-08-04 Bone and Soft Tissue Pathology: A Volume in the Diagnostic Pathology Series, by Andrew L. Folpe, MD and Carrie Y. Inwards, MD, packs today's most essential bone and soft tissue pathology know-how into a compact, high-yield format! The book's pragmatic, well-organized approach-complemented by abundant full-color, high-quality illustrations and at-a-glance tables-makes it easy to access the information you need to quickly and accurately identify pathology specimens. Best of all, Expert Consult functionality provides online access to the full text of the book, downloadable illustrations for your personal use, and more. The result is a practical, affordable reference for study and review as well as for everyday clinical practice. Includes access to the complete contents online, fully searchable, downloadable illustrations for your personal use, and more, allowing you to consult the text a quick, convenient manner. Reviews normal histology before examining abnormal findings, enabling you to conveniently compare their characteristics in one place at one time. Covers both neoplastic and non-neoplastic conditions of bone and soft tissue to equip you to meet a wide range of diagnostic challenges. Uses a consistent, user-friendly format to explore each entity's clinical features, pathologic features (gross and microscopic), ancillary studies, differential diagnoses, and prognostic and therapeutic considerations...making it easy to locate specific information on a particular entity. Features abundant boxes and tables throughout that enhance the presentation and accessibility of the material. Offers nearly 1,000 full-color, high-quality illustrations that demonstrate the key features of a wide variety of pathologic lesions to facilitate greater accuracy in identification of specimens. The Foundations in Diagnostic Pathology Series answers the call for fresh, affordable, and easy-to-use guidance. Each region-specific volume provides all of the most essential information on the pathologic entities encountered in practice. Series Editor: John R. Goldblum, MD, FACP, FASCP, FACG Your purchase entitles you to access the web site until the next edition is published, or until the current edition is no longer offered for sale by Elsevier, whichever occurs first. Elsevier reserves the right to offer a suitable replacement product (such as a downloadable or CD-ROM-based electronic version) should access to the web site be discontinued. |
| chromosome analysis peripheral blood: FISH Technology Bernd W. Rautenstrauß, 2002-02-14 Fluorescence in situ hybridization (FISH) has been developed as a powerful technology which allows direct visualisation or localisation of genomic alterations. The technique has been adopted to a range of applications in both medicine, especially in the areas of diagnostic cytogenetics, and biology. Topics described in this manual include: FISH on native human tissues, such as blood, bone marrow, epithelial cells, hair root cells, amniotic fluid cells, human sperm cells; FISH on archival human tissues, such as formalin fixed and paraffin embedded tissue sections, cryofixed tissue; simultaneous detection of apoptosis and xpression of apoptosis-related genes; comparative genomic ybridization; and special FISH techniques. |
| chromosome analysis peripheral blood: Biology for AP ® Courses Julianne Zedalis, John Eggebrecht, 2017-10-16 Biology for AP® courses covers the scope and sequence requirements of a typical two-semester Advanced Placement® biology course. The text provides comprehensive coverage of foundational research and core biology concepts through an evolutionary lens. Biology for AP® Courses was designed to meet and exceed the requirements of the College Board’s AP® Biology framework while allowing significant flexibility for instructors. Each section of the book includes an introduction based on the AP® curriculum and includes rich features that engage students in scientific practice and AP® test preparation; it also highlights careers and research opportunities in biological sciences. |
| chromosome analysis peripheral blood: Flow Cytometry Protocols Mark J. Jaroszeski, Richard Heller, 1998 This book contains protocols used specifically for immediate use in the diagnostic and experimental measurements enabled by modern flow cytometric instrumentation. Research protocols cover cell cycle analysis and regulation, detection of rare cells, solid tumor DNA techniques, ploidy analysis and the application of flow cytometric methods for measurements of leukemias, necrosis, apoptosis, heat shock proteins, liver and bladder cancer, disease monitoring, and intracellular measurements. A special section is included for biotechnologists using flow cytometry in the study of protein secretion, the monitoring of fermentation processes, monitoring bioreactors, cell-cell electroporation, quantitation electrofusion, and electrochemotherapy. |
| chromosome analysis peripheral blood: Prenatal Diagnosis and Screening D. J. H. Brock, C. H. Rodeck, Malcolm Andrew Ferguson-Smith, 1992 Prenatal diagnosis is the most important and fast moving area in obstetrics. This important new title is intended to become the definitive international book on the subject. Features: * Strong editorial team - offering a combination of geneticist and obstetrician * Both editors are of renowned international standing * Expert contributors from the UK, USA, Europe and Australia * Final chapter will summarise the major developments in the field - cross-referenced to and from the relevant chapters * Current, in-depth coverage of prenatal diagnosis |
| chromosome analysis peripheral blood: ABC of Clinical Genetics Helen M. Kingston, 1989 |
| chromosome analysis peripheral blood: Human Chromosome Methodology Jorge J. Yunis, 2013-10-22 Human Chromosome Methodology fills the need for an authoritative and up-to-date treatise which would serve as a text and reference for advances in human cytogenetics. The book includes readily comprehensible chapters that cover each phase of laboratory investigation from the preparation of materials for sex chromatin and chromosome techniques for bone marrow, blood, skin, and gonadal specimens to the subject of autoradiography and chromosome identification. Included also are guides to microscopy and photomicrography as well as an up-to-date treatment of chromosomes in disease. It is hoped that this volume will serve as an adequate guide to laboratory techniques and their applications for research workers, students of genetics, and members of the medical profession involved in setting up a laboratory of cytogenetics. |
Chromosome - Wikipedia
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming …
Chromosomes Fact Sheet - National Human Genome Research …
Aug 15, 2020 · Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make …
Chromosome - Definition, Function & Structure - Biology Dictionary
Oct 4, 2019 · A chromosome is a string of DNA wrapped around associated proteins that give the connected nucleic acid bases a structure. During interphase of the cell cycle, the chromosome …
Chromosome | Structure & Function | Britannica
May 10, 2025 · chromosome, the microscopic threadlike part of the cell that carries hereditary information in the form of genes. A defining feature of any chromosome is its compactness.
23 Chromosomes - Functions and Types of Chromosomes
Feb 13, 2024 · There are 23 chromosome pairs in humans. Transporting genetic information from one cell generation to the next is the main function of chromosomes. Several genes on each …
What is a chromosome? - MedlinePlus
Jan 19, 2021 · A chromosome is a thread-like structure made up of DNA. Chromosomes are found in the nucleus of each cell. Learn more.
Chromosomes- Definition, Structure, Types, Model, Functions
Aug 3, 2023 · Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes were first described by Strasburger …
What is a Chromosome? Structure, Function, and Role in Genetics
Apr 17, 2025 · But what exactly is a chromosome? How does it function? Why does it matter so much to life, health, and evolution? The answer lies in a tale that combines ancient mystery, …
What are Chromosomes? - University of Utah
Each chromosome includes a single, linear molecule of DNA with its own set of genes. Chromosomes are numbered according to their size, and genes are arranged along them in a …
What is a chromosome and how many do humans have?
What is a chromosome? A chromosome is a tightly wound bundle of DNA. It’s the way DNA is packaged in animal and plant cells – contrasting with bacteria where DNA floats freely around …
Chromosome - Wikipedia
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming …
Chromosomes Fact Sheet - National Human Genome Research …
Aug 15, 2020 · Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make …
Chromosome - Definition, Function & Structure - Biology Dictionary
Oct 4, 2019 · A chromosome is a string of DNA wrapped around associated proteins that give the connected nucleic acid bases a structure. During interphase of the cell cycle, the chromosome …
Chromosome | Structure & Function | Britannica
May 10, 2025 · chromosome, the microscopic threadlike part of the cell that carries hereditary information in the form of genes. A defining feature of any chromosome is its compactness.
23 Chromosomes - Functions and Types of Chromosomes
Feb 13, 2024 · There are 23 chromosome pairs in humans. Transporting genetic information from one cell generation to the next is the main function of chromosomes. Several genes on each …
What is a chromosome? - MedlinePlus
Jan 19, 2021 · A chromosome is a thread-like structure made up of DNA. Chromosomes are found in the nucleus of each cell. Learn more.
Chromosomes- Definition, Structure, Types, Model, Functions
Aug 3, 2023 · Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes were first described by Strasburger …
What is a Chromosome? Structure, Function, and Role in Genetics
Apr 17, 2025 · But what exactly is a chromosome? How does it function? Why does it matter so much to life, health, and evolution? The answer lies in a tale that combines ancient mystery, …
What are Chromosomes? - University of Utah
Each chromosome includes a single, linear molecule of DNA with its own set of genes. Chromosomes are numbered according to their size, and genes are arranged along them in a …
What is a chromosome and how many do humans have?
What is a chromosome? A chromosome is a tightly wound bundle of DNA. It’s the way DNA is packaged in animal and plant cells – contrasting with bacteria where DNA floats freely around …
