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Haemoglobinopathy Diagnosis

Haemoglobinopathy Diagnosis PDF Author: Barbara J. Bain
Publisher: John Wiley & Sons
ISBN: 1119579996
Category : Medical
Languages : en
Pages : 452

Book Description
An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context. The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text: • Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders • Includes “test-yourself” questions and provides an indispensable tool for learning and teaching • Presents new material on antenatal screening/prenatal diagnostic services • Offers myriad self-assessment case studies that are ideal for the trainee Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists, Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Haemoglobinopathy Diagnosis

Haemoglobinopathy Diagnosis PDF Author: Barbara J. Bain
Publisher: John Wiley & Sons
ISBN: 1119579996
Category : Medical
Languages : en
Pages : 452

Book Description
An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context. The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text: • Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders • Includes “test-yourself” questions and provides an indispensable tool for learning and teaching • Presents new material on antenatal screening/prenatal diagnostic services • Offers myriad self-assessment case studies that are ideal for the trainee Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists, Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Multimodal Optical Diagnostics of Cancer

Multimodal Optical Diagnostics of Cancer PDF Author: Valery V. Tuchin
Publisher: Springer Nature
ISBN: 3030445941
Category : Medical
Languages : en
Pages : 605

Book Description
This book provides an in-depth description and discussion of different multi-modal diagnostic techniques for cancer detection and treatment using exact optical methods, their comparison, and combination. Coverage includes detailed descriptions of modern state of design for novel methods of optical non-invasive cancer diagnostics; multi-modal methods for earlier cancer diagnostic enhancing the probability of effective cancer treatment; modern clinical trials with novel methods of clinical cancer diagnostics; medical and technical aspects of clinical cancer diagnostics, and long-term monitoring. Biomedical engineers, cancer researchers, and scientists will find the book to be an invaluable resource. Introduces optical imaging strategies; Focuses on multimodal optical diagnostics as a fundamental approach; Discusses novel methods of optical non-invasive cancer diagnostics.

Molecular Diagnostics

Molecular Diagnostics PDF Author: George P. Patrinos
Publisher: Academic Press
ISBN: 0128029889
Category : Medical
Languages : en
Pages : 526

Book Description
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. - Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories - Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression - Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Vibrational Spectroscopy in Diagnosis and Screening

Vibrational Spectroscopy in Diagnosis and Screening PDF Author: IOS Press (Firm)
Publisher: IOS Press
ISBN: 161499059X
Category : Medical
Languages : en
Pages : 432

Book Description
In recent years there has been a tremendous growth in the use of vibrational spectroscopic methods for diagnosis and screening. These applications range from diagnosis of disease states in humans, such as cancer, to rapid identification and screening of microorganisms. The growth in such types of studies has been possible thanks to advances in instrumentation and associated computational and mathematical tools for data processing and analysis. This volume of Advances in Biomedical Spectroscopy contains chapters from leading experts who discuss the latest advances in the application of Fourier transform infrared (FTIR), Near infrared (NIR), Terahertz and Raman spectroscopy for diagnosis and screening in fields ranging from medicine, dentistry, forensics and aquatic science. Many of the chapters provide information on sample preparation, data acquisition and data interpretation that would be particularly valuable for new users of these techniques including established scientists and graduate students in both academia and industry.

Pocket Guide to Gene Level Diagnostics in Clinical Practice

Pocket Guide to Gene Level Diagnostics in Clinical Practice PDF Author: Victor A. Bernstam
Publisher: CRC Press
ISBN: 9780849344855
Category : Science
Languages : en
Pages : 568

Book Description
Pocket Guide to Gene Level Diagnostics in Clinical Practice is an abbreviated, pocket-size, quick-reference guide that provides a point-by-point synopsis of the vast wealth of information contained in CRC Handbook of Gene Level Diagnostics in Clinical Practice. All sections and subsections in the Pocket Guide are cross-referenced to corresponding pages in the Handbook. The book works well on its own as a quick reference, but also can be used in conjunction with the larger Handbook for detailed coverage and references to specific information. Pocket Guide to Gene Level Diagnostics in Clinical Practice also includes extensive supplements featuring material not included in the Handbook. These are intended to provide an up-dated, practical source of information useful to anyone involved in molecular diagnostic research and/or service. Supplements are cross-referenced to the main text of the Pocket Guide, that complement and enhance the material covered. Pocket Guide to Gene Level Diagnostics in Clinical Practice will be a handy reference for professionals and students in pathology, biotechnology, biology, and medicine.

Histological Diagnosis of Nevi and Melanoma

Histological Diagnosis of Nevi and Melanoma PDF Author: Guido Massi
Publisher: Springer Science & Business Media
ISBN: 3642373119
Category : Medical
Languages : en
Pages : 764

Book Description
The interpretation of melanocytic tumors represents probably the most difficult task in the field of dermatopathology. The second edition of this text and atlas depicts a broad range of the most important and most challenging melanocytic lesions. Each individual case is illustrated with at least three high-quality color photographs and is commented on at length, highlighting the diagnostic clues. The goal of the authors is to assist the ordinary pathologist in making a precise workable diagnosis in their daily practice. They achieve this by providing simple criteria that will serve as a sound basis for an unequivocal diagnosis of either a benign or a malignant melanocytic neoplasm. The reader will find Histological Diagnosis of Nevi and Melanoma to be an invaluable guide to correct diagnosis even in difficult or rare cases.

Diagnostic Pathology: Molecular Oncology E-Book

Diagnostic Pathology: Molecular Oncology E-Book PDF Author: Mohammad A. Vasef
Publisher: Elsevier Health Sciences
ISBN: 0323611451
Category : Medical
Languages : en
Pages : 1014

Book Description
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)

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book PDF Author: Nader Rifai
Publisher: Elsevier Health Sciences
ISBN: 0323548482
Category : Medical
Languages : en
Pages : 4785

Book Description
The Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 6th Edition provides the most current and authoritative guidance on selecting, performing, and evaluating the results of new and established laboratory tests. This classic clinical chemistry reference offers encyclopedic coverage detailing everything you need to know, including: analytical criteria for the medical usefulness of laboratory tests, variables that affect tests and results, laboratory medicine, applications of statistical methods, and most importantly clinical utility and interpretation of laboratory tests. It is THE definitive reference in clinical chemistry and molecular diagnostics, now fully searchable and with quarterly content updates, podcasts, clinical cases, animations, and extended content online through Expert Consult. - Analytical criteria focus on the medical usefulness of laboratory procedures. - Reference ranges show new approaches for establishing these ranges — and provide the latest information on this topic. - Lab management and costs gives students and chemists the practical information they need to assess costs, allowing them to do their job more efficiently and effectively. - Statistical methods coverage provides you with information critical to the practice of clinical chemistry. - Internationally recognized chapter authors are considered among the best in their field. - Two-color design highlights important features, illustrations, and content to help you find information easier and faster. - NEW! Internationally recognized chapter authors are considered among the best in their field. - NEW! Expert Consult features fully searchable text, quarterly content updates, clinical case studies, animations, podcasts, atlases, biochemical calculations, multiple-choice questions, links to Medline, an image collection, and audio interviews. You will now enjoy an online version making utility of this book even greater. - UPDATED! Expanded Molecular Diagnostics section with 12 chapters that focus on emerging issues and techniques in the rapidly evolving and important field of molecular diagnostics and genetics ensures this text is on the cutting edge and of the most value. - NEW! Comprehensive list of Reference Intervals for children and adults with graphic displays developed using contemporary instrumentation. - NEW! Standard and international units of measure make this text appropriate for any user — anywhere in the world. - NEW! 22 new chapters that focus on applications of mass spectrometry, hematology, transfusion medicine, microbiology, biobanking, biomarker utility in the pharmaceutical industry and more! - NEW! Expert senior editors, Nader Rifai, Carl Wittwer and Rita Horvath, bring fresh perspectives and help ensure the most current information is presented. - UPDATED! Thoroughly revised and peer-reviewed chapters provide you with the most current information possible.

Introduction to Single Cell Omics

Introduction to Single Cell Omics PDF Author: Xinghua Pan
Publisher: Frontiers Media SA
ISBN: 2889459209
Category :
Languages : en
Pages : 129

Book Description
Single-cell omics is a progressing frontier that stems from the sequencing of the human genome and the development of omics technologies, particularly genomics, transcriptomics, epigenomics and proteomics, but the sensitivity is now improved to single-cell level. The new generation of methodologies, especially the next generation sequencing (NGS) technology, plays a leading role in genomics related fields; however, the conventional techniques of omics require number of cells to be large, usually on the order of millions of cells, which is hardly accessible in some cases. More importantly, harnessing the power of omics technologies and applying those at the single-cell level are crucial since every cell is specific and unique, and almost every cell population in every systems, derived in either vivo or in vitro, is heterogeneous. Deciphering the heterogeneity of the cell population hence becomes critical for recognizing the mechanism and significance of the system. However, without an extensive examination of individual cells, a massive analysis of cell population would only give an average output of the cells, but neglect the differences among cells. Single-cell omics seeks to study a number of individual cells in parallel for their different dimensions of molecular profile on genome-wide scale, providing unprecedented resolution for the interpretation of both the structure and function of an organ, tissue or other system, as well as the interaction (and communication) and dynamics of single cells or subpopulations of cells and their lineages. Importantly single-cell omics enables the identification of a minor subpopulation of cells that may play a critical role in biological process over a dominant subpolulation such as a cancer and a developing organ. It provides an ultra-sensitive tool for us to clarify specific molecular mechanisms and pathways and reveal the nature of cell heterogeneity. Besides, it also empowers the clinical investigation of patients when facing a very low quantity of cell available for analysis, such as noninvasive cancer screening with circulating tumor cells (CTC), noninvasive prenatal diagnostics (NIPD) and preimplantation genetic test (PGT) for in vitro fertilization. Single-cell omics greatly promotes the understanding of life at a more fundamental level, bring vast applications in medicine. Accordingly, single-cell omics is also called as single-cell analysis or single-cell biology. Within only a couple of years, single-cell omics, especially transcriptomic sequencing (scRNA-seq), whole genome and exome sequencing (scWGS, scWES), has become robust and broadly accessible. Besides the existing technologies, recently, multiplexing barcode design and combinatorial indexing technology, in combination with microfluidic platform exampled by Drop-seq, or even being independent of microfluidic platform but using a regular PCR-plate, enable us a greater capacity of single cell analysis, switching from one single cell to thousands of single cells in a single test. The unique molecular identifiers (UMIs) allow the amplification bias among the original molecules to be corrected faithfully, resulting in a reliable quantitative measurement of omics in single cells. Of late, a variety of single-cell epigenomics analyses are becoming sophisticated, particularly single cell chromatin accessibility (scATAC-seq) and CpG methylation profiling (scBS-seq, scRRBS-seq). High resolution single molecular Fluorescence in situ hybridization (smFISH) and its revolutionary versions (ex. seqFISH, MERFISH, and so on), in addition to the spatial transcriptome sequencing, make the native relationship of the individual cells of a tissue to be in 3D or 4D format visually and quantitatively clarified. On the other hand, CRISPR/cas9 editing-based In vivo lineage tracing methods enable dynamic profile of a whole developmental process to be accurately displayed. Multi-omics analysis facilitates the study of multi-dimensional regulation and relationship of different elements of the central dogma in a single cell, as well as permitting a clear dissection of the complicated omics heterogeneity of a system. Last but not the least, the technology, biological noise, sequence dropout, and batch effect bring a huge challenge to the bioinformatics of single cell omics. While significant progress in the data analysis has been made since then, revolutionary theory and algorithm logics for single cell omics are expected. Indeed, single-cell analysis exert considerable impacts on the fields of biological studies, particularly cancers, neuron and neural system, stem cells, embryo development and immune system; other than that, it also tremendously motivates pharmaceutic RD, clinical diagnosis and monitoring, as well as precision medicine. This book hereby summarizes the recent developments and general considerations of single-cell analysis, with a detailed presentation on selected technologies and applications. Starting with the experimental design on single-cell omics, the book then emphasizes the consideration on heterogeneity of cancer and other systems. It also gives an introduction of the basic methods and key facts for bioinformatics analysis. Secondary, this book provides a summary of two types of popular technologies, the fundamental tools on single-cell isolation, and the developments of single cell multi-omics, followed by descriptions of FISH technologies, though other popular technologies are not covered here due to the fact that they are intensively described here and there recently. Finally, the book illustrates an elastomer-based integrated fluidic circuit that allows a connection between single cell functional studies combining stimulation, response, imaging and measurement, and corresponding single cell sequencing. This is a model system for single cell functional genomics. In addition, it reports a pipeline for single-cell proteomics with an analysis of the early development of Xenopus embryo, a single-cell qRT-PCR application that defined the subpopulations related to cell cycling, and a new method for synergistic assembly of single cell genome with sequencing of amplification product by phi29 DNA polymerase. Due to the tremendous progresses of single-cell omics in recent years, the topics covered here are incomplete, but each individual topic is excellently addressed, significantly interesting and beneficial to scientists working in or affiliated with this field.

Free Electron Lasers 2000

Free Electron Lasers 2000 PDF Author: V.N. Litvinenko
Publisher: Gulf Professional Publishing
ISBN: 9780444509390
Category : Medical
Languages : en
Pages : 790

Book Description
The 22nd International Free Electron Laser Conference and 7th FEL User Workshop were held August 13-18, 2000 at Washington Duke Inn and Golf Club in Durham, North Carolina, USA. The conference and the workshop were hosted by Duke University's Free Electron laser (FEL) Laboratory. Following tradition, the FEL prize award was announced at the banquet. The year 2000 FEL prize was awarded to three scientists propelling the limits of high power FELs: Steven Benson, Eisuke Minehara and George Neill. The conference program was comprised of traditional oral sessions on First Lasing, FEL theory, storage ring FELs, linac and high power FELs, long wavelength FELs, SASE FELs, accelerator and FEL physics and technology, and new developments and proposals. Two sessions on accelerator and FEL physics and technology reflected the emphasis on the high quality of accelerators and components for modern FELs. The breadth of the applications was presented in the workshop oral sessions on materials processing, biomedical and surgical applications, physics and chemistry as well as on instrumentation and methods for FEL applications. A special oral session was dedicated to FEL center status reports for users to learn more about the opportunities with FELs. As usual, the oral sessions were supplemented by poster sessions with in-depth discussions and communications. The FEL physicists and FEL users had excellent opportunities to interact throughout the duration of the event, culminating a Joint Sessions. The year 2000 was very successful being marked by lasing with two SASE and one storage ring short-wavelength FELs, and by the first human surgery with the use of FEL, to mention but a few. The International Program Committee and chairs of the sessions had the challenging and exciting problem of selecting invived and contributed talks for the conferences and the workshop from the influx of abstracts mentioning new results and ideas. The success of the conference was determined by these contributions. Scientists from 15 countries gave 70 talks, presented 176 posters and submitted 146 papers, which are published in the present volume of proceedings.