Diagnostic Molecular Pathology in Practice: A Case-Based Approach

ISBN-13: 9783642196768 / Angielski / Miękka / 2011 / 339 str.

Iris Schrijver

Opis

This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in molecular genetic pathology (MGP): inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting. This book will be ideal for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.

Spis treści

Cystic Fibrosis.- Alport Syndrome.- Alpha Thalassemia.- Charcot-Marie-Tooth Disease.- Hearing Loss.- Polycystic Kidney Disease.- Fragile X Syndrome.- Malignant Hyperthermia.- Rh Incompatibility.- Pharmacogenetics.- B Cell Lymphoma.- T Cell Lymphoma.- Post-Transplant Lymphoproliferative Disorder.- HIV-Associated Hodgkin Lymphoma.- Chronic Myelogenous Leukemia.- Myeloproliferative Neoplasms.- Acute Myeloid Leukemia: FLT3 and NPM1.- Acute Myeloid Leukemia: CEBPA.- Bone Marrow Engraftment Analysis.- Mixed Phenotype Acute Leukemia.- Breast Cancer.- Lung Adenocarcinoma.- Melanoma.- Thyroid Cancer.- Renal Cell Carcinoma.- Gastrointestinal Stromal Tumor.- Lynch syndrome.- Oligodendroglioma.- Glioblastoma Multiforme.- Carcinoma Of Unknown Primary.- Human Immunodeficiency Virus.- Cytomegalovirus.- Human Papillomavirus.- Chlamydia trachomatis.- MRSA.- Influenza A (H1N1).- Bordetella pertussis.- Human Metapneumovirus.- BK Virus.- Respiratory Viruses.

O autorze

Iris Schrijver, MD, initially studied at the University of Utrecht in The Netherlands. She gained her board certification in Clinical Molecular Genetics from the American Board of Medical Genetics and subsequently served her residency in Clinical Pathology at Stanford University. Dr. Schrijver gained her board certification in Clinical Pathology from the American Board of Pathology. Since 2003, she has been Director of the Molecular Pathology Laboratory at Stanford University Medical Center and Lucile Packard Children's Hospital. She is an Associate Professor at the University, Director of the Stanford MGP fellowship program, and Associate Director of the residency program in Clinical Pathology. She has been the lead author or a co-author on 57 publications in peer-reviewed journals.

Blurb

The specialty of molecular genetic pathology (MGP) focuses on the molecular identification of inherited genetic conditions, acquired genetic diseases, and infectious diseases. This entirely case-based book covers a broad cross-section of the practical issues frequently encountered in the day-to-day activities of a molecular genetic pathologist. The book is divided into four sections on the principal areas addressed in MGP: inherited diseases, hematopathology, solid tumors, and infectious diseases. The topics covered by the cases in each section include test selection, qualitative and quantitative laboratory techniques, test interpretation, prognostic and therapeutic considerations, ethical considerations, technical troubleshooting, and result reporting.  This book is designed for trainees in MGP and clinical molecular genetics who require a practice-based preparation for board examinations. It will also be very useful for residents and fellows in medical specialties to which MGP is pertinent, and for practicing pathologists who want to learn more about the current practice of molecular diagnostics.