Benign and Pathological Chromosomal Imbalances Book

Benign and Pathological Chromosomal Imbalances

  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2013-08-31
  • Genre: Science
  • Pages : 220
  • ISBN 10 : 9780124046849

Benign and Pathological Chromosomal Imbalances Excerpt :

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

Understanding Genetics Book

Understanding Genetics

  • Author : Genetic Alliance
  • Publisher :
  • Release Date : 2009
  • Genre: Uncategoriezed
  • Pages : 100
  • ISBN 10 : 9780982162217

Understanding Genetics Excerpt :

The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Clinical Pathology Board Review E Book Book

Clinical Pathology Board Review E Book

  • Author : Steven L. Spitalnik
  • Publisher : Elsevier Health Sciences
  • Release Date : 2014-09-22
  • Genre: Medical
  • Pages : 712
  • ISBN 10 : 9780323186551

Clinical Pathology Board Review E Book Excerpt :

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).

Rosen s Breast Pathology Book

Rosen s Breast Pathology

  • Author : Syed A. Hoda
  • Publisher : Lippincott Williams & Wilkins
  • Release Date : 2020-10-23
  • Genre: Medical
  • Pages : 1544
  • ISBN 10 : 9781496398925

Rosen s Breast Pathology Excerpt :

Widely recognized as the gold standard reference in the field, Rosen’s Breast Pathology provides comprehensive, up-to-date information on diseases of the breast from renowned experts at four leading medical centers, masterfully edited by Dr. Paul P. Rosen. The revised fifth edition covers the latest advances in immunohistochemical, pathobiological, and molecular aspects of benign and malignant breast diseases, helping you reach an accurate diagnosis with confidence. It’s an ideal reference for all physicians and medical personnel who require a thorough knowledge of breast pathology, including pathologists, surgeons, oncologists, radiologists, and radiation oncologists.

Human Interphase Chromosomes Book

Human Interphase Chromosomes

  • Author : Ivan Iourov
  • Publisher : Springer Nature
  • Release Date : 2021-01-29
  • Genre: Medical
  • Pages : 178
  • ISBN 10 : 9783030625320

Human Interphase Chromosomes Excerpt :

This second edition focuses on the study of human interphase chromosomes and its relation to health and disease. Orchestrated organization and behavior of the human genome in interphase nuclei at chromosomal level has been repeatedly shown to play a significant role in almost all basic biological processes involved in the processing and inheritance of genetic information within and between species. Accordingly, post-genomic bioscience appeals to basic and applied studies of interphase nuclei genetics and genomics with special attention to interphase chromosome behavior in health and disease. Additionally, elucidating the role of interphase chromosome behavior during development, chromosome/DNA replication, DNA reparation opens new horizons for basic and applied bioscience Studies of interphase nuclei have an appreciable impact on different areas of biomedical sciences such as cell biology, neurobiology, cancer research, developmental biology, epigenetics, cytogenetics, and medical genetics, as a whole. Moreover, development of innovative and emergent technologies to analyze interphase nuclei are closely associated with application of these techniques in diagnostic and research practices to solve reproductive problems (including infertility and spontaneous abortions), to investigate congenital malformations (including those produced by aneuploidy and other chromosome abnormalities); genetic diseases (including cardiac, immune, neurological and psychiatric diseases), and cancer. This second edition serves as a source of updated valuable information and promising ideas for a wide audience of professionals in biomedicine including researchers, scientists, and healthcare professionals in human genetics, cytogenetics, and developmental biology.

Evolution  Composition and Regulation of Supernumerary B Chromosomes Book

Evolution Composition and Regulation of Supernumerary B Chromosomes

  • Author : Andreas Houben
  • Publisher : MDPI
  • Release Date : 2019-04-25
  • Genre: Science
  • Pages : 254
  • ISBN 10 : 9783038977865

Evolution Composition and Regulation of Supernumerary B Chromosomes Excerpt :

Supernumerary B chromosomes (Bs) are dispensable genetic elements found in thousands of species of plants and animals, and some fungi. Since their discovery more than a century ago, they have been a source of puzzlement, as they only occur in some members of a population and are absent from others. When they do occur, they are often harmful, and in the absence of “selfishness”, based on mechanisms of mitotic and meiotic drive, there appears to be no obvious reason for their existence. Cytogeneticists have long wrestled with questions about the biological existence of these enigmatic elements, including their lack of any adaptive properties, apparent absence of functional genes, their origin, sequence organization, and co-evolution as nuclear parasites. Emerging new technologies are now enabling researchers to step up a gear, to look enthusiastically beyond the previous limits of the horizon, and to uncover the secrets of these “silent” chromosomes. This book provides a comprehensive guide to theoretical advancements in the field of B chromosome research in both animal and plant systems.

Practical Breast Pathology Book

Practical Breast Pathology

  • Author : Yan Peng
  • Publisher : Springer
  • Release Date : 2019-07-18
  • Genre: Medical
  • Pages : 265
  • ISBN 10 : 9783030165185

Practical Breast Pathology Excerpt :

This comprehensive volume reviews current topics and controversies in diagnostic breast pathology, and addresses frequently encountered diagnostic problems using a question and answer format and case presentations. Emphasis is placed on the diagnostic approach as it relates to morphology, clinical and radiographic correlation, differential diagnosis, and ancillary testing including immunohistochemical and molecular analyses. Answers are provided and serve as a practical, evidence-based, and problem solving guide to diagnostic issues having significant impacts on clinical management. Common but diagnostically challenging entities such as papillary lesions and fibroepithelial lesions are discussed in detail, as well as special types of breast cancer including solid papillary carcinoma, lobular lesions and its variants. Uncommon breast lesions such as mesenchymal, lymphoid, and metastatic lesions are also covered. Chapters discuss genetic alterations and molecular abnormalities in breast cancer, and commonly encountered interpretation dilemmas on immunohistochemistry in breast cancer and metastatic cancer to the breast with a focus on prognostic and predictive tumor biomarkers.

Uniparental Disomy  UPD  in Clinical Genetics Book

Uniparental Disomy UPD in Clinical Genetics

  • Author : Thomas Liehr
  • Publisher : Springer
  • Release Date : 2014-06-26
  • Genre: Medical
  • Pages : 192
  • ISBN 10 : 9783642552885

Uniparental Disomy UPD in Clinical Genetics Excerpt :

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Cytogenomics Book


  • Author : Thomas Liehr
  • Publisher : Academic Press
  • Release Date : 2021-05-25
  • Genre: Science
  • Pages : 428
  • ISBN 10 : 9780128235805

Cytogenomics Excerpt :

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 Abnormalities and Genetic Counseling Book
Score: 4
From 1 Ratings

Chromosome Abnormalities and Genetic Counseling

  • Author : R.J. MKinlay Gardner
  • Publisher : OUP USA
  • Release Date : 2011-11-11
  • Genre: Medical
  • Pages : 634
  • ISBN 10 : 9780195375336

Chromosome Abnormalities and Genetic Counseling Excerpt :

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.

Breast Pathology Book

Breast Pathology

  • Author : Sami Shousha
  • Publisher : Springer
  • Release Date : 2016-11-24
  • Genre: Medical
  • Pages : 283
  • ISBN 10 : 9783319286556

Breast Pathology Excerpt :

​This book covers practical diagnostic issues in breast pathology, with special emphasis on areas which pose diagnostic difficulties. These include dealing with the gross specimens derived from patients treated with conservative surgery and those who had neo-adjuvant therapy before surgery. It also discusses how to deal with axillary lymph nodes, proliferative breast lesions, including DCIS, and problematic core biopsies, as well as fibro-epithelial, spindle cell, lobular, mucinous, metaplastic and papillary lesions, molecular classification of breast cancers, breast lesions in male patients and breast immunohistochemistry. There is a focus on unusual benign and malignant breast lesions and a large number of high-quality images help the reader diagnose difficult cases. Breast Pathology: Problematic Issues is aimed at histopathology consultants and senior trainees who deal with breast pathology.

Diagnostic Pathology  Molecular Oncology E Book Book

Diagnostic Pathology Molecular Oncology E Book

  • Author : Mohammad A Vasef
  • Publisher : Elsevier Health Sciences
  • Release Date : 2019-08-08
  • Genre: Medical
  • Pages : 1000
  • ISBN 10 : 9780323611459

Diagnostic Pathology Molecular Oncology E Book Excerpt :

Covering all aspects of molecular pathology as it relates to the transformation and pathogenesis of cancer, this award-winning volume in the Diagnostic Pathology series is an expert resource for pathologists at all levels of experience and training, both as a quick reference and as an efficient review to improve knowledge and skills. This easily accessible, point-of-care reference features templated, bulleted content that is generously illustrated with charts, graphs, tables, and color photomicrographs of histology with special stains. It offers a practical, clinical approach to examining how molecular mutations affect common medical diseases and identifies the relevant and appropriate molecular tests to perform for a complete work-up in the era of molecular-targeted therapies. Provides updated information on molecular mutations in different tumors, including solid tumors and hematopoietic neoplasms, and new targeted therapies geared toward these molecular alterations Discusses now widely used immunotherapy treatments, including how immunotherapy has revolutionized the treatment of many neoplasms such as breast and lung carcinomas and lymphoma Features more than 2,000 annotated images throughout, including H&E stains, immunostains, and FISH images Covers timely topics such as: Recent advances in cancer immunotherapy, specifically in the molecular basis of immunotherapy Newly discovered targeted therapies, including multiple lung carcinoma therapies now considered for patients based on existing mutations to specific genes (KRAS, ALK, BRAF, and ROS) The need for integration of myeloid and lymphoid gene panels due to increased knowledge from next generation sequencing studies of new mutations and the resulting newly developed molecular targets Increased usage of next generation sequencing techniques Changes to hematopoietic tumor details based on revised WHO guidelines Recipient of a 2016 BMA Award: Highly Commended, Pathology (previous edition)

Pathology and Genetics of Tumours of Endocrine Organs Book
Score: 5
From 7 Ratings

Pathology and Genetics of Tumours of Endocrine Organs

  • Author : International Agency for Research on Cancer
  • Publisher : IARC
  • Release Date : 2004
  • Genre: Medical
  • Pages : 320
  • ISBN 10 : 9283224167

Pathology and Genetics of Tumours of Endocrine Organs Excerpt :

This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003

Breast Pathology E Book Book

Breast Pathology E Book

  • Author : Frances P. O'Malley
  • Publisher : Elsevier Health Sciences
  • Release Date : 2011-08-01
  • Genre: Medical
  • Pages : 400
  • ISBN 10 : 9781455733392

Breast Pathology E Book Excerpt :

Breast Pathology, a title in the Foundations in Diagnostic Pathology series, provides all of the most essential information on the pathological entities encountered in practice in an easy-to-use format. Drs. Frances P. O'Malley, Sarah E. Pinder, and Anna Marie Mulligan provide unparalleled expert guidance for the study and diagnosis of a broad spectrum of breast lesions as well as the broad range of appearances of normal breast tissue. The consistent, practical format with a wealth of illustrations, at-a-glance boxes, and tables, make this title ideal for quick reference for both novices and experienced breast pathologists. Reference key information quickly and easily with a consistent, user-friendly format and at-a-glance boxes and tables throughout the text. Examine all aspects of a pathologic entity, including clinical features, pathologic features (gross and microscopic), ancillary studies, differential diagnosis, and prognostic and therapeutic considerations. Catch all the nuances of how pathological lesions present through over 400 full-color illustrations. Practice with confidence and overcome your toughest challenges with advice from the top minds in breast pathology. Apply the latest molecular diagnostic techniques to recognize newly identified classifications in breast disease. Get more of the information you need from new and expanded chapters covering a broad range of diseases and topics including fine needle aspiration cytology and the physical handling of core biopsy specimens; handling and evaluation of sentinel lymph nodes; diseases of the male breast; and state-of-the-art coverage of molecular advances in malignant breast disease. Prepare for the future of breast pathology with a new chapter dedicated to gene profiling and stem cell diagnostic techniques.

Atlas of Head and Neck Pathology E Book Book

Atlas of Head and Neck Pathology E Book

  • Author : Bruce M. Wenig
  • Publisher : Elsevier Health Sciences
  • Release Date : 2015-06-09
  • Genre: Medical
  • Pages : 1600
  • ISBN 10 : 9781455733811

Atlas of Head and Neck Pathology E Book Excerpt :

Atlas of Head and Neck Pathology delivers authoritative, highly visual guidance for effectively and accurately diagnosing a wide range of head and neck problems. This comprehensive resource features extensive, high-quality images depicting the histologic, immunohistochemical, cytologic, and diagnostic imaging appearance of every type of head and neck pathology. With a consistent, practical organization and succinct, bulleted format, the Atlas continues to be the resource general pathologists and specialists count on for reliable, easy-to-find answers. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Reach accurate diagnostic conclusions easily with a consistent, user-friendly format that explores each entity's clinical features, pathologic features (gross and microscopic), ancillary studies, differential diagnoses, and prognostic and therapeutic considerations. Glean all essential, current, need-to-know information with sweeping revisions that include additional images shown in the frozen section, more content on odontogenic lesions and neoplasms, and inclusion of newly described entities such as igG-associated salivary gland diseases, mammary analog secretory carcinoma, and more. Review expanded coverage of critical areas with additional chapters on oral cavity and oropharynx, nasopharynx, and neck. Apply the most current staging of cancers from College of American Pathologists (TNM) and American Joint Committee on Cancer (AJCC).