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Author: ... Schindler-Hoehn
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805582773
Category : Medical
Languages : en
Pages : 243
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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
Get Book Here
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
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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: Hubert Schrezenmeier
Publisher: Cambridge University Press
ISBN: 9780521641012
Category : Medical
Languages : en
Pages : 410
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Book Description
Comprehensive and up-to-date clinical reference, with an emphasis on treatment.
Author: Traute M. Schroeder-Kurth
Publisher: Springer Science & Business Media
ISBN: 3642741797
Category : Medical
Languages : en
Pages : 276
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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: Giovanni Pagano
Publisher: Nova Science Publishers
ISBN: 9781634638326
Category : HEALTH & FITNESS
Languages : en
Pages : 156
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Book Description
Fanconi Anemia (FA), a rare genetic disease featuring excess cancer risk and chromosomal instability, has received growing interest after the discovery that one of the defective genes in FA is associated with high-impact diseases such as familial breast cancer and ovary cancers. A well-documented relationship has accumulated in several decades and up to recently, studies have linked FA with a redox imbalance (oxidative stress, OS) in FA cells. The toxicity mechanisms of crosslinking agents (mitomycin C and diepoxybutane) in FA cells, along with the roles of OS-related aldehydes and glutathione in FA and in other diseases, are critically discussed. Also discussed is the proinflammatory state in FA phenotype. Additionally, recent studies have discovered an impairment in the structure and function of mitochondria in FA cell lines, while mitochondrial dysfunction in FA patients has so far been an unexplored field warranting ad hoc investigations. This book provides the readers with up-to-date information and perspectives on Fanconi anemia and oxidative stress that may prompt further elucidation of this intriguing disease, along with working hypotheses in clinical research and patients' management.
Author: Nicolaus Kröger
Publisher:
ISBN: 9781013273674
Category : Medical
Languages : en
Pages : 688
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Book Description
This Open Access edition of the European Society for Blood and Marrow Transplantation (EBMT) handbook addresses the latest developments and innovations in hematopoietic stem cell transplantation and cellular therapy. Consisting of 93 chapters, it has been written by 175 leading experts in the field. Discussing all types of stem cell and bone marrow transplantation, including haplo-identical stem cell and cord blood transplantation, it also covers the indications for transplantation, the management of early and late complications as well as the new and rapidly evolving field of cellular therapies. This book provides an unparalleled description of current practices to enhance readers' knowledge and practice skills. This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Author:
Publisher: ScholarlyEditions
ISBN: 1464907811
Category : Medical
Languages : en
Pages : 33
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Book Description
Fanconi Anemia: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Fanconi Anemia in a compact format. The editors have built Fanconi Anemia: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Fanconi Anemia in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Fanconi Anemia: New Insights for the Healthcare Professional: 2011 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/.
Author:
Publisher: ScholarlyEditions
ISBN: 1481652486
Category : Medical
Languages : en
Pages : 52
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Book Description
Fanconi Anemia: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Additional Research in a concise format. The editors have built Fanconi Anemia: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research 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 Fanconi Anemia: 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/.
Author:
Publisher:
ISBN:
Category : Fanconi's anemia
Languages : en
Pages : 200
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Book Description
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781730631
Category : Medical
Languages : en
Pages : 982
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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.
