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The Principles of Clinical Cytogenetics

Author: Steven Gersen

Publisher: Humana Press

Published: 2010-10-12

Total Pages: 0

ISBN-13: 9781617370700

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This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.

Book Synopsis The Principles of Clinical Cytogenetics by : Steven Gersen

Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.

Medical Cytogenetics

Author: Mark Hon Fong L.

Publisher: CRC Press

Published: 2000-04-11

Total Pages: 728

ISBN-13: 1482292998

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Book Synopsis Medical Cytogenetics by : Mark Hon Fong L.

Medical Genetics

Author: G. Bradley Schaefer

Publisher: McGraw Hill Professional

Published: 2013-11-22

Total Pages: 385

ISBN-13: 0071819282

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A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Book Synopsis Medical Genetics by : G. Bradley Schaefer

Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Medical Cytogenetics

Author: Mark Hon Fong L.

Publisher: CRC Press

Published: 2000-04-11

Total Pages: 728

ISBN-13: 9780824719999

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The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists preparing for the certifying examination in Clinical Cytogenetics offered by the American Board of Medical Genetics (ABMG). Written by nearly 30 distinguished international contributors, Medical Cytogenetics covers the history of the field, tissue culturing and staining techniques, and clinical applications of FISH, as well as other methods for genetic studies and chromosomal analysis supplies numerous examples and case reports examines reproductive dysfunctions such as in-utero abnormalities, male infertility, and failure to conceive investigates chromosomal abnormalities associated with myeloid hematopoietic disorders, lymphoid neoplasms, and solid tumors such as those associated with breast cancer reviews means of obtaining accreditation or licenses, use of external peer reviews and voluntary inspections, proficiency testing, and regulatory oversight and more! Thoroughly referenced with over 1800 bibliographic citations, and supplemented with a useful glossary, a large number of practice questions, and over 40 color photographs, Medical Cytogenetics is a pragmatic, hands-on reference for pathologists, geneticists, cytogenetic technologists, molecular and cell biologists, clinical and medical oncologists, hematologists, neurologists, pediatricians, endocrinologists, obstetricians, gynecologists, and primary care physicians, and an exceptional text for upper-level undergraduate, graduate, and medical students in these disciplines.

Book Synopsis Medical Cytogenetics by : Mark Hon Fong L.

Download or read book Medical Cytogenetics written by Mark Hon Fong L. and published by CRC Press. This book was released on 2000-04-11 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists preparing for the certifying examination in Clinical Cytogenetics offered by the American Board of Medical Genetics (ABMG). Written by nearly 30 distinguished international contributors, Medical Cytogenetics covers the history of the field, tissue culturing and staining techniques, and clinical applications of FISH, as well as other methods for genetic studies and chromosomal analysis supplies numerous examples and case reports examines reproductive dysfunctions such as in-utero abnormalities, male infertility, and failure to conceive investigates chromosomal abnormalities associated with myeloid hematopoietic disorders, lymphoid neoplasms, and solid tumors such as those associated with breast cancer reviews means of obtaining accreditation or licenses, use of external peer reviews and voluntary inspections, proficiency testing, and regulatory oversight and more! Thoroughly referenced with over 1800 bibliographic citations, and supplemented with a useful glossary, a large number of practice questions, and over 40 color photographs, Medical Cytogenetics is a pragmatic, hands-on reference for pathologists, geneticists, cytogenetic technologists, molecular and cell biologists, clinical and medical oncologists, hematologists, neurologists, pediatricians, endocrinologists, obstetricians, gynecologists, and primary care physicians, and an exceptional text for upper-level undergraduate, graduate, and medical students in these disciplines.

The Principles of Clinical Cytogenetics

Author: Steven L. Gersen

Publisher: Springer Science & Business Media

Published: 2013-03-26

Total Pages: 562

ISBN-13: 1441916881

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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.

Book Synopsis The Principles of Clinical Cytogenetics by : Steven L. Gersen

Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer Science & Business Media. This book was released on 2013-03-26 with total page 562 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

The AGT Cytogenetics Laboratory Manual

Author: Marilyn S. Arsham

Publisher: John Wiley & Sons

Published: 2017-04-24

Total Pages: 1216

ISBN-13: 1119061229

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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.

Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham

Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Molecular Cytogenetics

Author: Yao-Shan Fan

Publisher: Humana

Published: 2010-11-10

Total Pages: 0

ISBN-13: 9781617373008

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The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternal–fetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzled by the variety of FISH techniques and wonder what test to order. It is not uncommon that a sample is referred to a laboratory for FISH without indicating a specific test. On the other hand, a cytogeneticist or a technologist in a laboratory needs, from case to case, to determine which procedure to perform and which probe to use for an informative result. To obtain the best results, one must use the right DNA probes and have reliable protocols and measures of quality assurance in place. Also, one must have sufficient knowledge in both traditional and molecular cytogenetics, as well as the particular areas of medicine for which the test is used in order to appropriately interpret the FISH results, and to correlate them with clinical diagnosis, treatment, and prognosis.

Book Synopsis Molecular Cytogenetics by : Yao-Shan Fan

Download or read book Molecular Cytogenetics written by Yao-Shan Fan and published by Humana. This book was released on 2010-11-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternal–fetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzled by the variety of FISH techniques and wonder what test to order. It is not uncommon that a sample is referred to a laboratory for FISH without indicating a specific test. On the other hand, a cytogeneticist or a technologist in a laboratory needs, from case to case, to determine which procedure to perform and which probe to use for an informative result. To obtain the best results, one must use the right DNA probes and have reliable protocols and measures of quality assurance in place. Also, one must have sufficient knowledge in both traditional and molecular cytogenetics, as well as the particular areas of medicine for which the test is used in order to appropriately interpret the FISH results, and to correlate them with clinical diagnosis, treatment, and prognosis.

Cancer Cytogenetics

Author: Sverre Heim

Publisher: John Wiley & Sons

Published: 2015-08-17

Total Pages: 642

ISBN-13: 1118795539

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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

Book Synopsis Cancer Cytogenetics by : Sverre Heim

Download or read book Cancer Cytogenetics written by Sverre Heim and published by John Wiley & Sons. This book was released on 2015-08-17 with total page 642 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Author: R.J. McKinlay Gardner

Publisher: Oxford University Press

Published: 2018-02-06

Total Pages: 634

ISBN-13: 019932901X

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Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Molecular Diagnostics

Author: William B. Coleman

Publisher: Springer Science & Business Media

Published: 2013-04-18

Total Pages: 387

ISBN-13: 1475725884

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Notable practitioners describe how laboratory medicine is practiced today and illuminate how it will function tomorrow as the revolutionary advances afforded by molecular diagnostics become increasingly central to effective analysis. Proceeding from a discussion of elementary nucleic acid technology to a review of the more advanced techniques, the distinguished contributors lay the groundwork for a comprehensive understanding of their applications throughout clinical medicine. The result is a detailed description of those molecular technologies currently used in diagnostic laboratories, as well as those that seem particularly promising. Detailed discussions of specific clinical applications include those for cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases.

Book Synopsis Molecular Diagnostics by : William B. Coleman

Download or read book Molecular Diagnostics written by William B. Coleman and published by Springer Science & Business Media. This book was released on 2013-04-18 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: Notable practitioners describe how laboratory medicine is practiced today and illuminate how it will function tomorrow as the revolutionary advances afforded by molecular diagnostics become increasingly central to effective analysis. Proceeding from a discussion of elementary nucleic acid technology to a review of the more advanced techniques, the distinguished contributors lay the groundwork for a comprehensive understanding of their applications throughout clinical medicine. The result is a detailed description of those molecular technologies currently used in diagnostic laboratories, as well as those that seem particularly promising. Detailed discussions of specific clinical applications include those for cancer, hematological malignancies, cardiovascular disease, and neuromuscular, endocrine, and infectious diseases.