Download or read book Gene and Cell Therapies for Beta Globinopathies written by Punam Malik and published by Springer. This book was released on 2017-11-09 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Sickle Cell Pain written by Samir K. Ballas and published by Lippincott Williams & Wilkins. This book was released on 2015-06-01 with total page 1004 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sickle Cell Pain is a panoramic, in-depth exploration of every scientific, human, and social dimension of this cruel disease. This comprehensive, definitive work is unique in that it is the only book devoted to sickle cell pain, as opposed to general aspects of the disease. The 752-page book links sickle cell pain to basic, clinical, and translational research, addressing various aspects of sickle pain from molecular biology to the psychosocial aspects of the disease. Supplemented with patient narratives, case studies, and visual art, Sickle Cell Pain’s scientific rigor extends through its discussion of analgesic pharmacology, including abuse-deterrent formulations. The book also addresses in great detail inequities in access to care, stereotyping and stigmatization of patients, the implications of rapidly evolving models of care, and recent legislation and litigation and their consequences.

Download or read book Red Book Atlas of Pediatric Infectious Diseases written by American Academy of Pediatrics and published by . This book was released on 2007 with total page 440 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on key content from Red Book: 2006 Report of the Committee on Infectious Diseases, 27th Edition, the new Red Bookr Atlas is a useful quick reference tool for the clinical diagnosis and treatment of more than 75 of the most commonly seen pediatric infectious diseases. Includes more than 500 full-color images adjacent to concise diagnostic and treatment guidelines. Essential information on each condition is presented in the precise sequence needed in the clinical setting: Clinical manifestations, Etiology, Epidemiology, Incubation period, Diagnostic tests, Treatment

Download or read book Medical and Surgical Complications of Sickle Cell Anemia written by Ahmed Al-Salem and published by Springer. This book was released on 2015-12-14 with total page 352 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a wide-ranging guide to the diagnosis and management of the numerous medical and surgical complications that may arise in patients with sickle cell anemia. After introductory chapters on the genetics, pathophysiology, clinical features, and variants of sickle cell anemia, the complications observed in different parts of the body are addressed in a series of well-illustrated chapters. The coverage includes splenic, hepatobiliary, musculoskeletal, gastrointestinal, ophthalmological, cardio- and cerebrovascular, and renal complications, as well as acute chest syndrome, leg ulcers, hand and foot syndrome, acute appendicitis, and priapism. Treatment-oriented chapters consider perioperative management, blood transfusion therapy, hydroxyurea treatment, hematopoietic stem cell transplantation, and emerging strategies. The book is clearly written in a distinctive bullet point format for ease of reference and emphasizes especially aspects of practical significance. It will be of value for hematologists, general surgeons, internists, pediatricians, pediatric surgeons, fellows, residents, medical students, and nurses.

Download or read book Thalassemia An Issue of Hematology Oncology Clinics of North America written by Ali Taher and published by Elsevier Health Sciences. This book was released on 2018-03-07 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Hematology/Oncology Clinics, edited by Dr. Ali Taher, focuses on Thalassemia. Topics include, but are not limited to, Molecular basis and genetic modifiers; Evolving spectrum of epidemiology; Clinical classification; Ineffective erythropoiesis, anemia and iron overload; Hypercoagulability and vascular disease; Clinical complications and their management; Transfusion and iron chelation therapy; Hematopoietic Stem Cell Transplantation in Thalassemia; Gene therapy and genome editing; Emerging therapies; Quality of life; Advances in understanding pathophysiology and treatment of fertility, pregnancy, and prenatal diagnosis in Thalassemia; and MRI for iron overload.

Download or read book Precision Medicine CRISPR and Genome Engineering written by Stephen H. Tsang and published by Springer. This book was released on 2017-11-11 with total page 180 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents descriptive overviews of gene editing strategies across multiple species while also offering in-depth insight on complex cases of application in the field of tissue engineering and regenerative medicine. Chapters feature contributions from leaders in stem cell therapy and biology, providing a comprehensive view of the application of gene therapy in numerous fields with an emphasis on ophthalmology, stem cells, and agriculture. The book also highlights recent major technological advances, including ZFN, TALEN, and CRISPR. Precision Medicine, CRISPR, and Genome Engineering is part of the highly successful Advances in Experimental Medicine and Biology series. It is an indispensable resource for researchers and students in genetics as well as clinicians.

Download or read book Regulatory Aspects of Gene Therapy and Cell Therapy Products written by Maria Cristina Galli and published by Springer. This book was released on 2015-09-15 with total page 235 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book discusses the different regulatory pathways for gene therapy (GT) and cell therapy (CT) medicinal products implemented by national and international bodies throughout the world (e.g. North and South America, Europe, and Asia). Each chapter, authored by experts from various regulatory bodies throughout the international community, walks the reader through the applications of nonclinical research to translational clinical research to licensure for these innovative products. More specifically, each chapter offers insights into fundamental considerations that are essential for developers of CT and GT products, in the areas of product manufacturing, pharmacology and toxicology, and clinical trial design, as well as pertinent "must-know" guidelines and regulations. Regulatory Aspects of Gene Therapy and Cell Therapy Products: A Global Perspective is part of the American Society of Gene and Cell Therapy sub-series of the highly successful Advances in Experimental Medicine and Biology series. It is essential reading for graduate students, clinicians, and researchers interested in gene and cell therapy and the regulation of pharmaceuticals.

Download or read book Management of Chronic Kidney Disease written by Mustafa Arıcı and published by Springer Nature. This book was released on with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Prenatal and Preimplantation Diagnosis written by Joann Paley Galst and published by Springer. This book was released on 2015-08-26 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book aims to expand the awareness and understanding of the emotional sequelae of prenatal/preimplantation diagnosis, prenatal decision-making, pregnancy interruption for fetal anomaly, multifetal reduction for high-order multifetal pregnancies and preimplantation choices involving the selection of embryos. Featuring a multi-disciplinary approach, it examines prenatal and preimplantation diagnosis from medical, legal, ethical and psychosocial perspectives. Prenatal and Preimplantation Diagnosis is an excellent resource for obstetricians, reproductive endocrinologists, clinical geneticists, genetic counselors and mental health professionals seeking to better support patients faced with difficult choices.

Download or read book Evidence Based Critical Care written by Paul Ellis Marik and published by Springer. This book was released on 2014-12-08 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the premier evidence-based textbook in critical care medicine. The Third Edition features updated and revised chapters, numerous new references, streamlined content, and new chapters on key topics such as the new paradigm in critical care medicine, cardiac output monitoring, surgical optimization, vital signs, and arterial blood gas analysis. The book maintains the author’s trademark humor and engaging writing style and is suitable for a broad and diverse audience of medical students, residents, fellows, physicians, nurses, and respiratory therapists who seek the latest and best evidence in critical care. From reviews of previous editions: “This is an excellent introduction to the concept of evidence-based medicine...The writing is clear, logical, and highly organized, which makes for fast and enjoyable reading. I believe this book will get daily use in most intensive care units, by a wide range of readers.” –Respiratory Care “This is one of the most comprehensive handbooks on critical care medicine with a strong emphasis on evidence base...Overall, this book should be useful for junior doctors or intensive care trainees who are starting their term in an intensive care unit.” –Anaesthesia and Intensive Care

Download or read book Disorders of Hemoglobin written by Martin H. Steinberg and published by Cambridge University Press. This book was released on 2009-08-17 with total page 883 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the definitive reference on disorders of hemoglobin.

Download or read book Vogel and Motulsky s Human Genetics written by Michael Speicher and published by Springer Science & Business Media. This book was released on 2009-11-26 with total page 1006 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Gene Therapy for HIV and Chronic Infections written by Ben Berkhout and published by Springer. This book was released on 2015-03-10 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book centers on gene therapy and gene transfer approaches to prevent or treat chronic virus infections. The main focus is on the Big Three: human immunodeficiency virus (HIV-1), hepatitis B virus (HBV) and hepatitis C virus (HCV). Ample anti-HIV drugs are currently available in the clinic and the development of an effective combination therapy has dramatically improved the lifespan and quality of life of infected individuals. A similar trend can already be recognized for HBV and HCV: the development of multiple (directly acting) antiviral drugs and plans to control or even cure the infection. However, approaches that help prevent infection, or which provide long-lasting treatment (such as a cure) remain important goals. Immunization through gene transfer vehicles encoding immunogenic viral proteins shows promise in preventing infections with complex, highly variable, viruses such as HIV-1 or HCV. Gene therapy applications for virus infections have been discussed since the early 1990’s. Whereas a true cure seems difficult to achieve for HIV-1 due to its intrinsic property to deposit its genome into that of the host, such attempts may be within reach for HCV where spontaneous viral clearance occurs in a small percentage of the infected individuals. The prospect of original gene therapy approaches may provide alternative ways to reach the same endpoint by, for example, silencing of CCR5 expression post-transcriptionally. Many alternative antiviral strategies have been developed based on a variety of novel molecular methods: e.g. ribozymes. Some studies have progressed towards pre-clinical animal models and a few antiviral gene therapies have progressed towards clinical trials. This book provides an overview of this rapidly progressing field, while focusing on the interface of gene therapy and immunology/vaccinology.

Download or read book Sickle Cell Anemia written by Fernando Ferreira Costa and published by Springer. This book was released on 2016-03-29 with total page 439 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although sickle cell anemia was the first molecular disease to be identified, its complex and fascinating pathophysiology is still not fully understood. A single mutation in the beta-globin gene incurs numerous molecular and cellular mechanisms that contribute to the plethora of symptoms associated with the disease. Our knowledge regarding sickle cell disease mechanisms, while still not complete, has broadened considerably over the last decades. Sickle Cell Anemia: From Basic Science to Clinical Practice aims to provide an update on our current understanding of the disease’s pathophysiology and use this information as a basis to discuss its manifestations in childhood and adulthood. Current therapies and prospects for the development of new approaches for the management of the disease are also covered.

Download or read book Epigenetics Nuclear Organization Gene Function written by John C. Lucchesi and published by Oxford University Press. This book was released on 2018-12-19 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics is the study of heritable changes in gene function that do not involve changes in the DNA sequence. These changes, consisting principally of DNA methylation, histone modifications, and non-coding RNAs, maintain or modulate the initial impact of regulatory factors that recognize and associate with particular genomic sequences. Epigenetic modifications are manifest in all aspects of normal cellular differentiation and function, but they can also have damaging effects that result in pathologies such as cancer. Research is continuously uncovering the role of epigenetics in a variety of human disorders, providing new avenues for therapeutic interventions and advances in regenerative medicine. This book's primary goal is to establish a framework that can be used to understand the basis of epigenetic regulation and to appreciate both its derivation from genetics and interdependence with genetic mechanisms. A further aim is to highlight the role played by the three-dimensional organization of the genetic material itself (the complex of DNA, histones and non-histone proteins referred to as chromatin), and its distribution within a functionally compartmentalized nucleus. This architectural organization of the genome plays a major role in the subsequent retrieval, interpretation, and execution of both genetic and epigenetic information.

Download or read book Thalassemia and Other Hemolytic Anemias written by Isam Jaber Al-Zwaini and published by BoD – Books on Demand. This book was released on 2018-07-11 with total page 140 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Colon Polyps and the Prevention of Colorectal Cancer written by Omer Engin and published by Springer. This book was released on 2015-07-02 with total page 254 pages. Available in PDF, EPUB and Kindle. Book excerpt: ​This book explains clearly the nature of colon polyps and their relationship with colorectal cancer, which is among the three most common cancers in both men and women. Up-to-date information is provided on anatomy, pathology, types of polyp and their treatment, and the performance of colonoscopy. Particular attention is devoted to the risk factors for development of colorectal cancer, with detailed guidance on its prevention and early diagnosis and treatment. While the book is primarily intended for medical specialists and students, a deliberate and consistent effort has been made to use plain language that will enable other interested persons, including patients, to understand all aspects of the subject.