Susan Zneimer Mahler Cytogenetic Abnormalities. Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result

Susan Zneimer Mahler Cytogenetic Abnormalities. Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result

This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to communicate these findings in standardized laboratory reports.

Foetal nuchal translucency

Foetal nuchal translucency

Currently, 4-5% of neonates are born with congenital anomalies. One of the most important groups of these anomalies is the chromosomal aneuploidies, among which the numeric chromosomal aneuploidies have the greatest clinical role. The other important group is the structural abnormalities. The main aim of my studies was to gain a better insight into the possibilities provided by first-trimester ultrasound screening for foetal aneuploidies and other structural abnormalities. In this study, the effectiveness of first-trimester ultrasound in the screening of foetal aneuploidies was examined. Also, the association between first-trimester increased nuchal translucency thickness and foetal cardiac defects and major congenital structural malformations was studied. This book should be useful for medical professionals and future parents who are interested in early detection of fetal chromosomal and structural abnormalities.

Chromosomal Profile Of Indigenous Pig (Sus Scrofa)

Chromosomal Profile Of Indigenous Pig (Sus Scrofa)

Cytogenetic studies aid in selection of breeding animals which are free from chromosomal abnormalities which in turn augment the production. Cytogenetic studies have been widely carried out in all domestic animal species with little attention given to pigs in India. Hence, the present study was undertaken with the following objectives. 1.To standardize protocol for short term lymphocyte culture of pigs. 2. To study the chromosomal profile of domestic pig. 3. To study different morphometric measurements.

Chromosomal instability in Egyptian urinary schistosomiasis patients

Chromosomal instability in Egyptian urinary schistosomiasis patients

This book explores the different changes in cytogenetics in patients with complicated and uncomplicated Egyptian schistosomiasis haematobium patients. Three different techniques were evaluated, namely DNA ploidy analysis, karyotyping and FISH. Also for the first time cytogenetic changes in the urine of acute urinary schistosomiasis patients were traced.Also three different types of samples were examined,which are blood, tissue and urine samples.

Oxford Handbook of Clinical and Healthcare Research

Oxford Handbook of Clinical and Healthcare Research

The Oxford Handbook of Clinical and Healthcare Research is an evidence-based, succinct, and easy-to-use reference for the full range of clinical and healthcare research topics. Providing a wide breadth of essential knowledge, this comprehensive text takes the researcher through the steps from general good clinical practice in healthcare research to the process and management of research. This handbook includes clear instructions on the legislative and practical requirements of commissioning, conducting, analysing, and reporting research for those in clinical or healthcare practice, education, or training. Written with Good Clinical Practice (GCP) education in mind, it includes valuable information needed for the accredited certificates and diploma-level benchmark exams now commonly required by employers. This is a definitive text for all clinical and healthcare research students, as well as graduates with an interest in clinical and healthcare research.

Genetic Changes and Their Prognostic Impact in Leukaemic Patients

Genetic Changes and Their Prognostic Impact in Leukaemic Patients

In Pakistan, comprehensive data from population based studies on the incidence of childhood leukaemia is generally lacking. In developing countries, treatment of acute lymphoblastic leukaemia (ALL) usually relies on different immunophenotypic, cytogenetic and molecular subsets that have differing outcomes with different therapies. In Pakistan, treatment offered to patients is usually based on clinical features of disease at presentation. This books attempts to identify and characterize different risk factors and clinical and genetic prognostic markers in Pakistani ALL patients. Moreover, classification of patients into different risk groups and effects of conventional therapies on treatment outcome were also studied. The importance of research to identify the optimal therapy for children with ALL including well-designed clinical trials, identification of higher risk features with appropriate treatment changes and tailoring of therapy according to response and risk groups are emphasized.

Fusion Oncogenes & Acute Lymphoblastic Leukemia in Adults

Fusion Oncogenes & Acute Lymphoblastic Leukemia in Adults

Chromosomal abnormalities play an important role in genesis of Acute Lymphoblastic Leukemia and have prognostic implications. This work is aimed at detecting common chromosomal translocation and associated fusion oncogenes in adult ALL patients and their relationship with clinical features and treatment outcome by using RT-PCR and interphase FISH. Five most common fusion oncogenes i.e. BCR-ABL, ETV6-RUNX1, MLL-AF4, SIL-TAL1 and TCF3-PBX1, were found in 79 percent of the patients in the sample. BCR-ABL and MLL-AF4 characterized a subset of adult ALL patients with aggressive clinical behavior and a poor outcome. Survival in ETV6-RUNX1 was better while SIL-TAL1 had frequent organomegaly and usually showed up with a platelets count less than 50x109/l. TCF3-PBX1 fusion oncogene was associated with lymphadenopathy. This is the first comprehensive study from Pakistan which investigates the frequency of fusion oncogenes, their association with clinical features, treatment response and outcome. This information will help in the prognostic stratification and risk adapted management of adult ALL patients in under developed countries like Pakistan.

Evidence based dentistry

Evidence based dentistry

The principles of evidence-based healthcare provide structure and guidance to facilitate the highest levels of patient care. There are numerous components to evidence-based Dentistry including the production of best available evidence, the critical appraisal and interpretation of the evidence, the communication and discussion of the evidence to individuals seeking care and the integration of the evidence with clinical skills and patient values. An understanding of the principles should help to underpin the latter aspects. this book will help readers to understand the concept of evidence based dentistry in depth.

Molecular and Cytogenetic Profile of Game Fishes: The Mighty Mahseers

Molecular and Cytogenetic Profile of Game Fishes: The Mighty Mahseers

India is one among the 12-mega biodiversity countries which harbour 60-70% of the world's recorded biodiversity. With only 2.4% of land area, India accounts for 7-8% of the recorded species of the world. Out of approx 31600 fish species recorded worldwide, more than 2463 fish species are present in Indian water bodies. Mahseer is the common name for several fresh water fish species of large scaled barbels (genera Tor, Neolissochilus, and Naziritor in the family Cyprinidae (carps) found in the Asian subcontinent and inhabits a wide range of Indian river-systems and has high demand as food and attraction for anglers as a sport fish. Mahseer are the most famous game fish known for its fighting spirit. In this monograph, cytogenetic profile of the 5 mahseer species has presented. Within the framework of research on macro-evolutionary processes in this species, which has not been characterized previously among different species and geographically isolated populations, information derived from simultaneous chromosomal localization and nucleotide sequences of 45S and 5S ribosomal RNA presented and discussed to better investigate the presence of discrete species/population specific marker.

Clinical and Laboratory Manual of Fish Diseases

Clinical and Laboratory Manual of Fish Diseases

The book is a systematic clinical / Laboratory diagnostic manual for most of the bacterial and parasitic fish diseases. A brief introductory section on applied anatomy of fishes is offered in this manual . The last section of the manual is a colored atlas of selected fishes’ anatomy. The manual is recommended for both undergraduate and graduate students who study Fish Health, Fish Diseases , Fish Bacteriology , Fish Pathology and Fish Anatomy. The book is also very useful for aquatic veterinarians , fish pathologists, fisheries scientists and marine biologists.

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