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Benign and Pathological Chromosomal Imbalances

Benign and Pathological Chromosomal Imbalances
  • Author : Thomas Liehr
  • Publisher :Unknown
  • Release Date :2013-08-31
  • Total pages :220
  • ISBN : 9780124046849
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Summary : Benign & Pathological Chromosomal Imbalances systematically clarifies the disease implications of cytogenetically visible copy number variants (CG-CNV) using cytogenetic assessment of heterochromatic or euchromatic DNA variants. While variants of several megabasepair can be present in the human genome without clinical consequence, visually distinguishing these benign areas from disease implications does not always occur to practitioners accustomed to costly molecular profiling methods such as FISH, aCGH, and NGS. As technology-driven approaches like FISH and aCGH have yet to achieve the promise of universal coverage or cost efficacy to sample investigated, deep chromosome analysis and molecular cytogenetics remains relevant for technology translation, study design, and therapeutic assessment. Knowledge of the rare but recurrent rearrangements unfamiliar to practitioners saves time and money for molecular cytogeneticists and genetics counselors, helping to distinguish benign from harmful CG-CNV. It also supports them in deciding which molecular cytogenetics tools to deploy. Shows how to define the inheritance and formation of cytogenetically visible copy number variations using cytogenetic and molecular approaches for genetic diagnostics, patient counseling, and treatment plan development Uniquely classifies all known variants by chromosomal origin, saving time and money for researchers in reviewing benign and pathologic variants before costly molecular methods are used to investigate Side-by-side comparison of copy number variants with their recently identified submicroscopic form, aiding technology assessment using aCGH and other techniques

Clinical Pathology Board Review E-Book

Clinical Pathology Board Review E-Book
  • Author : Steven L. Spitalnik,Suzanne Arinsburg,Jeffrey Jhang
  • Publisher :Unknown
  • Release Date :2014-09-22
  • Total pages :712
  • ISBN : 9780323186551
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Summary : Clinical Pathology Board Review covers all of the major subject areas of clinical pathology, presenting you with an essential study guide for certification or recertification. Designed as a companion to Anatomic Pathology Board Review, 2nd Edition, this brand-new medical reference book will be a welcome resource for pathology residents and practicing pathologists alike. Understand all of the major subject areas of clinical pathology tested on the Clinical Pathology board exam, including chemistry, hematology, coagulation, microbiology, immunology (including HLA testing), transfusion medicine (including therapeutic apheresis), cytogenetics, and molecular diagnostics. Prepare for the boards with help from multiple-choice questions offered in a format that mimics that of the actual test. Effectively grasp key concepts with questions that integrate various areas of clinical pathology, as well as questions that bridge concepts in clinical pathology with those in anatomic pathology. Understand why an answer is correct or incorrect with help from brief explanations accompanying each. Review key concepts in laboratory medicine, correlate them to the associated clinical or laboratory information, and apply them to the diagnosis and management of human disease. Designed as a companion to Anatomic Pathology Board Review, 2nd Edition (ISBN: 9781455711406).

Pathology of Bone and Joint Neoplasms

Pathology of Bone and Joint Neoplasms
  • Author : Timothy R. Helliwell
  • Publisher :Unknown
  • Release Date :1999
  • Total pages :411
  • ISBN : UOM:39015043104820
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Summary : Comprised of well-renowned international contributors, this problem-focused text aids in the diagnosis of tumors and tumor like diseases of bones and joints. Describes in detail the ways in which differential diagnostic problems can be resolved. Also includes sections describing recent technical and methodological advances which facilitate the greater understanding of bone-joint neoplasia and will improve the diagnosis and treatment of bone diseases in the future. A well-illustrated guide that features comprehensive summary tables and thorough references. Presents an overview of the role, benefits, and limitations of modern genetic and molecular biological techniques in the diagnosis of tumours. Describesin its first section the molecular biology of cells in normal bone and examines the principles of lab techniques that can be applied to the study of bone tumours. Focusesin its second sectionon the important contributions that minimally invasive diagnostic methods can make to the diagnosis of bone and joint neoplasms. Emphasizes the use of radiological and other imaging investigations in gathering important anatomical and pathological data, and in reaching a correct diagnosis. Groups neoplasms as they might present to the pathologiston the basis of the histological features that certain neoplasms have in common, and on their anatomical location. Contains a chapter on the interpretation of bone specimens in relation to the treatment that the patient has or will receive. Features numerous radiographs, magnetic resonance images, as well as histological and molecular biological illustrations that provide important data on the anatomy and pathology of bone and joints neoplasms. Examines the intricacies of diagnostic terminology. Provides thorough cross-referencing.

Small Supernumerary Marker Chromosomes (sSMC)

Small Supernumerary Marker Chromosomes (sSMC)
  • Author : Thomas Liehr
  • Publisher :Unknown
  • Release Date :2011-11-03
  • Total pages :220
  • ISBN : 3642207669
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Summary : Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Acta Cytologica

Acta Cytologica
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2002
  • Total pages :229
  • ISBN : CORNELL:31924094828815
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Summary : Includes abstracts of papers of various symposia.

Congenital Anomalies

Congenital Anomalies
  • Author : Stefania Tudorache
  • Publisher :Unknown
  • Release Date :2018-05-02
  • Total pages :544
  • ISBN : 9781789231144
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Summary : Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
  • Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
  • Publisher :Unknown
  • Release Date :2011-11-11
  • Total pages :634
  • ISBN : 9780195375336
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Summary : 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.

Pharmacoepigenetics

Pharmacoepigenetics
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2019-06-04
  • Total pages :983
  • ISBN : 9780128139400
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Summary : Pharmacoepigenetics, Volume Eleven provides a comprehensive volume on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible, view of the field, from basic principles, to applications in disease therapeutics. Leading international researchers from across academia, clinical settings and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine. Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs and the application of epigenetic procedures in drug development Features chapter contributions from leading international researchers in academia, clinical settings and the pharmaceutical industry Instructs researchers, students and clinicians on how to better interpret and employ pharmacoepigenetics in drug development, efficiency and safety Provides a balanced and objective discussion of the future of pharmacoepigenetics and its crucial role in precision medicine

Anderson's Pathology

Anderson's Pathology
  • Author : William Arnold Douglas Anderson
  • Publisher :Unknown
  • Release Date :1985
  • Total pages :1938
  • ISBN : MINN:31951000001113N
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Summary :

Archives of Pathology & Laboratory Medicine

Archives of Pathology & Laboratory Medicine
  • Author : Anonim
  • Publisher :Unknown
  • Release Date :2008
  • Total pages :229
  • ISBN : NWU:35558005698572
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Summary :

Modern Soft Tissue Pathology

Modern Soft Tissue Pathology
  • Author : Markku Miettinen
  • Publisher :Unknown
  • Release Date :2010-06-14
  • Total pages :229
  • ISBN : 9781139489409
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Summary : This book comprehensively covers modern soft tissue pathology and includes both tumors and non-neoplastic entities. Soft tissues make up a large bulk of the human body, and they are susceptible to a wide range of diseases. Many soft-tissue tumors are biologically very aggressive, and the chance of them metastasizing to vital organs is quite high. In recent years, the outlook for soft-tissue cancers has brightened dramatically due to the increased accuracy of the pathologist's tools. All methods of diagnosis are covered here, with an emphasis on the newest immunoassays and other genetic, molecular, and immunologic diagnostic modalities. This book's systematic description of benign and malignant primary soft tissue tumors with didactic, comprehensive panels of illustrations allows the reader to formulate a complete understanding of the morphology of tumor entities at one glance. The book covers both the most common tumor entities and more unusual diseases using more than 1,500 color images, making it a resource for beginning and senior pathologists.

Chromosomal Abnormalities

Chromosomal Abnormalities
  • Author : Marcelo Larramendy,Sonia Soloneski
  • Publisher :Unknown
  • Release Date :2017-08-30
  • Total pages :204
  • ISBN : 9789535134732
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Summary : This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.

Pathology of Incipient Neoplasia

Pathology of Incipient Neoplasia
  • Author : Donald Earl Henson,Jorge Albores-Saavedra
  • Publisher :Unknown
  • Release Date :2001
  • Total pages :839
  • ISBN : UOM:39015055207016
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Summary : Screening and early detection have improved our ability to detect lesions at increasingly earlier stages of growth. Physicians are seeking a better understanding of these lesions and their early bioloy in order to provide optimal treatment and patient care. Pathology of Incipient Neoplasia brings together all of the information available on the clinicopathological features of precancerous lesions, defined to include atypical hyperplasias, in-situ changes, microinvasive or very small cancers in some sites, and other lesions recognised as potential presursors for invasive cancer. In some tissues, bengin tumours may serve as precursors to malignant tumours, and therefore these are also considered. Organised by organ, each heavily-illustrated chapter is written by a well-recognised expert, to stress different facets of preneoplasia and minimally invasive tumors in that given tissue. A chapter on salivary glands, and more than 350 colour photos interspersed throughout the text, are new to this edition.

Pathology of the Urinary Bladder

Pathology of the Urinary Bladder
  • Author : Christopher Foster,Jeffrey Ross
  • Publisher :Unknown
  • Release Date :2004
  • Total pages :328
  • ISBN : UOM:39015059170079
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Summary : A comprehensive monograph on the pathology of the urinary bladder together with its associated tissue in both genders. It explores the contemporary understanding of the complex embryological reorganization occurring early in the intrauterine life of the developing human and continuing expansion of molecular diagnostics extending through the full range of clinical and pathologic findings encountered in practice. It defines their diagnostic features and criteria, and presents effective strategies for solving diagnostic challenges.

Haines & Taylor Obstetrical and Gynaecological Pathology

Haines & Taylor Obstetrical and Gynaecological Pathology
  • Author : Magnus Haines,Claud Whittaker Taylor
  • Publisher :Unknown
  • Release Date :2003
  • Total pages :1626
  • ISBN : UOM:39015056445383
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Summary : The fifth edition of this world-famous text provides encyclopedic coverage of both obstetrical and gynaecological pathology. It describes the basic mechanisms of diseases, their pathological and clinical features and their histological and cytological appearance. Each chapter is written by a leading international expert and provides the reader with a complete and authoritative review of a particular topic. This edition will feature increased coverage of fine needle aspiration cytology as well as an increased emphasis on differential diagnosis. Previous editions of this title establish it as the most complete reference source in it field. Whether in the reporting room or in research, this book is relied upon to explain the pathology of the female genital tract. Integrate all aspects of obtetrical and gynecological pathology. Provides an authoritative and encyclopedic resource for diagnosis and research. The comprehensive range of pathologic conditions covered, from the common to the obscure, will assist in the recognition of even the most unfamiliar disorder.

Pathology

Pathology
  • Author : Earl Brown
  • Publisher :Unknown
  • Release Date :1999
  • Total pages :467
  • ISBN : UOM:39015043047227
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Summary : This text offers a study regime for course work or exam preparation. It contains 500 multiple-choice questions on pathology, which parallel the format and degree of difficulty found in licensing exams. Detailed answers are provided, along with references to literature on the subject.

Meningiomas, Biology, Pathology, and Differential Diagnosis

Meningiomas, Biology, Pathology, and Differential Diagnosis
  • Author : John J. Kepes
  • Publisher :Unknown
  • Release Date :1982
  • Total pages :206
  • ISBN : UOM:39015000877962
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Summary :

The Principles of Pathology

The Principles of Pathology
  • Author : Alan John Morris Reese
  • Publisher :Unknown
  • Release Date :1974
  • Total pages :188
  • ISBN : UOM:39015003808303
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Summary :

Pathology of the Gastrointestinal Tract

Pathology of the Gastrointestinal Tract
  • Author : Si-Chun Ming,Harvey Goldman
  • Publisher :Unknown
  • Release Date :1998
  • Total pages :988
  • ISBN : UOM:39015041609044
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Summary :

Diagnostic Surgical Pathology of the Head and Neck

Diagnostic Surgical Pathology of the Head and Neck
  • Author : Douglas R. Gnepp
  • Publisher :Unknown
  • Release Date :2001
  • Total pages :888
  • ISBN : UOM:39015050034670
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Summary : Here's the all-new comprehensive text on surgical pathology of the head and neck. Extensively illustrated, this text is the most authoritative source to study the problematic areas for the surgical pathologist. Particular emphasis is placed on diagnostic problems and differential diagnosis in addition to coverage of more common diagnostically straightforward lesions. Provides comprehensive coverage of all areas of head and neck pathology, including the skin, ears, soft tissue and bone, lymph nodes, odontogenic lesions, and thyroid, parathyroid, salivary and lacrimal glands. Emphasizes diagnostic problems and differential diagnosis in addition to covering more common, diagnostically straightforward lesions. Illustrates important concepts with more than 1000 illustrations, 500 of which are in full color. Includes current tumor staging information in the appendix. Features a consistent organization that makes finding information easy.

Blood and Bone Marrow Pathology

Blood and Bone Marrow Pathology
  • Author : S. N. Wickramasinghe,Jeffrey J. McCullough
  • Publisher :Unknown
  • Release Date :2003
  • Total pages :740
  • ISBN : UOM:39015056196044
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Summary : This book will be the most complete and authoritative benchside reference text on the pathologic interpretation and diagnosis of blood and bone marrow disease. The book will cover all of the pathologic conditions that are likely to be encountered in daily practice. The text incorporate the latest knowledge on the molecular basis of inherited red cell and coagulation disorders. The organizational structure of each chapter will follow a consistent format: incidence/epidemiology, pathogenesis, brief clinical presentation, histologic and cytologic appearance, testing techniques, differential diagnosis and a brief section on clinical behavior and outcome. Detailed descriptions of the pathologic features of blood and bone marrow in combination with over 1,000 high quality illustrations provide the reader with a single, comprehensive resource to assist in accurate diagnosis. Histologic and cytologic appearances are correlated throughout to provide the clinician with a complete and integrated approach to diagnostic interpretation and reporting. An emphasis on differential diagnosis and diagnostic pitfalls provides the clinician with a quick, practical solution to reporting difficult and problematic specimens. Focus on the practical techniques of diagnostic laboratory testing reflects the realities of the pathologist's everyday work environment. Consistent and logical organizational structure will enable the clinician to locate essential information quickly and easily.