Prevention of Thalassaemias and Other Haemoglobin Disorders PDF Download
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Author: Galanello Renzo
Publisher:
ISBN: 9789963623396
Category :
Languages : en
Pages : 190
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Book Description
Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.
Author: Galanello Renzo
Publisher:
ISBN: 9789963623396
Category :
Languages : en
Pages : 190
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Book Description
Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.
Author: Isam Jaber Al-Zwaini
Publisher: BoD – Books on Demand
ISBN: 1789233666
Category : Medical
Languages : en
Pages : 140
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Book Description
Thalassemia is a very common disease first described by pediatrician Thomas Benton Cooley in 1925 who described it in a patient of Italian origin. At that time, it was designated as Cooley's anemia. George Hoyt Whipple, a Nobel prize winner, and W. L. Bradford, a professor of pediatrics at the University of Rochester, coined the term thalassemia in 1936, which in Greek means anemia of the sea (Thalassa means "sea", and emia means "blood"), due to the fact that it is very common in the area of the Mediterranean Sea. This name is actually misleading because it can occur everywhere in the world. Thalassemia is not a single disease; it is rather a group of hereditary disorders of the production of globulin chain of the hemoglobin. Throughout the world, thalassemia affects approximately 4.4 of every 10,000 live births. It represents a major social and emotional impact on the patient and his family and a major burden on health services where the prevalence is high.
Author: Michael Speicher
Publisher: Springer Science & Business Media
ISBN: 3540376542
Category : Medical
Languages : en
Pages : 1006
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Book Description
The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
Author: Robert L. Nussbaum
Publisher: Elsevier Health Sciences
ISBN: 1437706967
Category : Medical
Languages : en
Pages : 561
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Book Description
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic "problems" related to what has just been reviewed, with answers provided in the back of the book. Student Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. You'll also access USMLE-style and multiple choice questions.
Author: Punam Malik
Publisher: Springer
ISBN: 1493972995
Category : Medical
Languages : en
Pages : 254
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Book Description
Hemoglobin defects, specifically sickle cell disease & thalassemia, combined, constitute the most common monogenic disorders in the world. In fact, nearly 2% of the world’s population carries a globin gene mutation. The transfer of the corrective globin gene through the HSC compartment by allogeneic HSC transplantation (HSCT) has already proven curative in both SCD and thalassemia patients, and provides the proof of concept that genetic manipulation of the defective organ might be equally therapeutic. However, procedural toxicities and the requirement of an HLA-matched sibling donor limit this approach to a fraction of affected individuals. The editors review the progress & the state of the field in HSCT for hemoglobinopathies & shed light on the major changes expected in the next decade. Although allogeneic HSCT is a curative option, it is limited by the availability of matched donors, which are often available only to 15-20% of patients. An alternative to allogeneic HS CT is genetic correction of autologous HSCs, to overcome donor availability & immune side effects. This Book reviews the progress made on additive gene therapy approaches & the current state of the field. Finally, targeted genetic correction is emerging as a novel therapeutic strategy in the hemoglobinopathies. Although ideal, the inefficiency of targeted correction was rate limiting for translation of this technology to the clinic. With advancements in zinc finger nucleases and TALE endonuclease mediated targeted correction, correction frequencies in hematopoietic stem cells is now reaching levels that may become clinically relevant. Furthermore, the ability to generate autologous embryonic stem cell like cells from primary somatic cells (skin fibroblasts or hematopoietic cells) of the affected individual has allowed for the potential application of genetic correction strategies.This Book reviews upcoming genetic strategies to reactivate fetal hemoglobin production and research advances.
Author: Martin H. Steinberg
Publisher: Cambridge University Press
ISBN: 0521875196
Category : Medical
Languages : en
Pages : 883
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Book Description
Completely revised new edition of the definitive reference on disorders of hemoglobin.
Author: Pedro A. de Alarcón
Publisher: Cambridge University Press
ISBN: 1108488986
Category : Medical
Languages : en
Pages : 501
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Book Description
An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Author: Sue Pavord
Publisher: Cambridge University Press
ISBN: 1108548377
Category : Medical
Languages : en
Pages : 362
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Book Description
Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.
Author: Terry Mahan Buttaro
Publisher: Elsevier Health Sciences
ISBN: 0323355218
Category : Medical
Languages : en
Pages : 1717
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Book Description
Prepare for success in today's fast-paced, collaborative healthcare environment! Offering expert perspectives from a variety of primary care and nurse practitioners, Primary Care: A Collaborative Practice, 5th Edition helps you diagnose, treat, and manage hundreds of adult disorders. Care recommendations indicate when to consult with physicians or specialists, and when to refer patients to an emergency facility. This edition includes six new chapters, a fresh new design, the latest evidence-based guidelines, and a new emphasis on clinical reasoning. Combining academic and clinical expertise, an author team led by Terry Mahan Buttaro shows NPs how to provide effective, truly interdisciplinary health care. UNIQUE! A collaborative perspective promotes seamless continuity of care, with chapters written by NPs, physicians, PAs, and other primary care providers. Comprehensive, evidence-based content covers every major disorder of adults seen in the outpatient office setting, reflects today's best practices, and includes the knowledge you need for the NP/DNP level of practice. A consistent format in each chapter is used to describe disorders, facilitating easier learning and quick clinical reference. Diagnostics and Differential Diagnosis boxes provide a quick reference for diagnosing disorders and making care management decisions. Complementary and alternative therapies are addressed where supported by solid research evidence. Referral icons highlight situations calling for specialist referral or emergency referral. NEW chapters cover topics including transitional care, risk management, LGBTQ patient care, bullous pemphigoid, pulmonary embolism, and dysphagia. NEW! An emphasis on clinical reasoning helps you develop skills in diagnosis and treatment, with coverage moving away from pathophysiology and toward diagnostic reasoning and disease management — including pharmacologic management. NEW focus on interdisciplinary care underscores the importance of interprofessional education and practice, and includes Interdisciplinary Management features. UPDATED chapters reflect the latest literature and evidence-based treatment guidelines, including new content on the Affordable Care Act as well as new coverage of patient satisfaction metrics, quality metrics, value-based purchasing, pharmacogenetics/genomics, and teen pregnancy and abnormal pregnancy. NEW quick-reference features make it easier to locate important information, through colorful section tabs, bulleted summaries, additional algorithms, a more logical table of contents, an Index to Standardized Treatment Guidelines, and a Reference to Common Laboratory Values.
Author:
Publisher: ScholarlyEditions
ISBN: 1481662406
Category : Medical
Languages : en
Pages : 77
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Book Description
Thalassemia: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Diagnosis and Screening in a concise format. The editors have built Thalassemia: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Diagnosis and Screening in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Thalassemia: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
