Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Fanconi Anemia PDF full book. Access full book title Fanconi Anemia by ... Schindler-Hoehn. Download full books in PDF and EPUB format.
Author: ... Schindler-Hoehn Publisher: Karger Medical and Scientific Publishers ISBN: 3805582773 Category : Medical Languages : en Pages : 243
Book Description
Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of 'natural gene therapy' and hematopoietic stem cell transplantation as the only curative approach in FA. The final chapters investigate evolutionary aspects of the FA genes with special emphasis on the avian genome and the involvement of FA genes in recombinational types of DNA repair. Physicians and researchers in the fields of pediatrics, hematology, cancer, genetics, DNA repair and aging will benefit from understanding this disease, which illustrates the complex network of genomic maintenance systems that protect us from cancer and premature aging.
Author: ... Schindler-Hoehn Publisher: Karger Medical and Scientific Publishers ISBN: 3805582773 Category : Medical Languages : en Pages : 243
Book Description
Fanconi anemia (FA) is a rare genetic disease discovered 80 years ago by Guido Fanconi, an eminent Swiss pediatrician. It is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure and cellular sensitivity to DNA damaging agents. Following a historical account, exemplary case reports and the current status of FA genes and their mutations, this volume discusses neoplasia in FA as well as current approaches to pre- and postnatal diagnosis. Further topics include revertant mosaicism as a kind of 'natural gene therapy' and hematopoietic stem cell transplantation as the only curative approach in FA. The final chapters investigate evolutionary aspects of the FA genes with special emphasis on the avian genome and the involvement of FA genes in recombinational types of DNA repair. Physicians and researchers in the fields of pediatrics, hematology, cancer, genetics, DNA repair and aging will benefit from understanding this disease, which illustrates the complex network of genomic maintenance systems that protect us from cancer and premature aging.
Author: Shamim Ahmad Publisher: Springer Science & Business Media ISBN: 0387337768 Category : Science Languages : en Pages : 134
Book Description
This book provides the only comprehensive treatise available on Fanconi Anemia. It gives a detailed analysis from the clinical to the molecular levels of the disorder. It also allows insight into the mechanisms of responses to DNA damage, and the complex interactions of several previously unknown proteins. The book will give research students a platform for further investigation, and act as a source of information regarding experimental design.
Author: Traute M. Schroeder-Kurth Publisher: Springer Science & Business Media ISBN: 3642741797 Category : Medical Languages : en Pages : 276
Book Description
This monograph represents the first attempt to gather all aspects of Fanconi's anemia in one source. The editors are well-known for their continuous research in the field and have aptly brought together contributions containing the most up-to-date information available. The difficulties in differential diagnosis and treatment are covered; and the outlook for cure via bone marrow transplantation is included. This overview will interest specialists in human genetics as well as all those dealing with this disease.
Author: National Organization for Rare Disorders Publisher: Lippincott Williams & Wilkins ISBN: 9780781730631 Category : Medical Languages : en Pages : 982
Book Description
NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author: Mahmoud Deeb Aljurf Publisher: Elsevier ISBN: 9780128041529 Category : Science Languages : en Pages : 0
Book Description
Congenital and Acquired Bone Marrow Failure is a comprehensive guide to congenital and acquired bone marrow failure in adult and pediatric patients. Chapters are divided into two sections, acquired aplastic anemia and inherited bone marrow failure syndromes. Content ranges from the basic, to the translational, and from the epidemiology of acquired aplastic anemia and telomere biology, to the management, treatment, and supportive care of pediatric, adult, and geriatric patients. Contributors are world leading experts in the field of bone marrow failure. The book is required reading for residents, fellows, clinicians, and researchers across hematology, oncology, pathology, bone marrow transplantation, pediatrics, and internal medicine.
Author: Martha Pritchett Mims, MD, PhD Publisher: Springer Publishing Company ISBN: 0826149871 Category : Medical Languages : en Pages : 555
Book Description
Handbook of Benign Hematology is a practical guide to the diagnosis and management of benign hematologic conditions. The book begins with a chapter on normal hematopoiesis and follows with chapters devoted to groups of blood disorders and syndromes including neutrophil disorders, nonmalignant myeloid disorders, bone marrow failure syndromes, myeloproliferative disorders, anemias, iron metabolism disorders, platelet disorders, hemostasis and coagulation defects, and thrombosis. Each disorder subtype covered features a clinical case, an introduction to the condition, details on diagnosis including applicable criteria and lab work needed, key diagnostic dilemmas, prognosis, treatment options, details on clinical trials and emerging clinical strategies, and bulleted key points to highlight clinical pearls and common pitfalls. The final chapters provide best practices for transfusion medicine and a guide to pharmacologic agents and their uses in clinical practice for adult and pediatric patients. The handbook is filled with tables and illustrations which highlight FDA-approved drug information, clinical trials data, hematopathologic characteristics of different disorders, important management criteria and more, making it the ideal handbook for those in practice or for review. The Editors and chapter authors are experienced academic practitioners in the fields of adult and pediatric hematology, pathology, blood banking, and pharmacology. Emphasizing best practices for patient management, this handbook is essential for oncologists, hematologists, trainees, and other practitioners who regularly or increasingly receive referrals to diagnose and treat adults or children with nonmalignant hematologic conditions. Key Features: Includes dozens of clinical cases covering all nonmalignant blood disorders Emphasizes patient management and best practices for disorders seen in adults and children Contains over 30 color images and numerous tables for quick reference Presents important details of all pharmacologic agents used to treat or manage hematologic disorders and their complications Purchase includes access to the ebook for use on most mobile devices or computers
Author: Nasrollah T. Shahidi Publisher: Springer Science & Business Media ISBN: 1461232546 Category : Medical Languages : en Pages : 233
Book Description
During the past decade, there have been numerous direct and indirect scientific contributions to both the etiology and therapy of aplastic anemia and related bone marrow failure syndromes. Clinical observations, such as autologous bone marrow recovery after conditioning with immunosup pressive agents for bone marrow transplantation; failure to achieve en graftment in some identical twins without prior immunosuppressive ther apy; and hematologic response to immunosuppressive agents, have led to the concept of immune-mediated etiology of acquired aplastic anemia. Such a concept was further strengthened by laboratory findings, implicat ing the role of activated cytotoxic T lymphocytes and abnormal produc tion of inhibitory lymphokines. The immunologic mechanisms may also apply to the idiosyncratic bone marrow aplasias associated with drugs, toxic chemicals, and viruses. These agents may alter normal cellular recog nition sites by interacting with cellular components and result in loss of self tolerance. Immunologic mechanisms have long been advocated in many other organ failures, and the hemopoietic organ is no exception. It is of interest that parallel clinical and laboratory investigations in juvenile diabetes mellitus type I and in rodent models of this disease have yielded results compatible with the same pathogenic mechanisms. The infiltration of pancreatic islets by activated T lymphocytes, functional and morphological alterations of islet cells upon incubation with lymphokines such as gamma interferon and tumor necrosis factor, and clinical response to cyclosporine are a few examples.
Author: ... Schindler-Hoehn
Author: ... Schindler-Hoehn
Author: Hubert Schrezenmeier
Author: Shamim Ahmad
Author: Traute M. Schroeder-Kurth
Author: 
Author: National Organization for Rare Disorders
Author: Mahmoud Deeb Aljurf
Author: Martha Pritchett Mims, MD, PhD
Author: Nasrollah T. Shahidi
Author: