Fanconi Anemia

Fanconi Anemia
Author: ... Schindler-Hoehn
Publisher: Karger Medical and Scientific Publishers
Total Pages: 243
Release: 2007-01-01
Genre: Medical
ISBN: 3805582773

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.

Primary Immunodeficiency Diseases

Primary Immunodeficiency Diseases
Author: Hans D. Ochs
Publisher:
Total Pages: 745
Release: 2007
Genre: Medical
ISBN: 019514774X

The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders--disorders featuring an increased susceptibility to infections and, in certain conditions, an icreased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have been introduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune systam could be understood at a molecular level. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling
Author: R.J. MKinlay Gardner
Publisher: OUP USA
Total Pages: 650
Release: 2012
Genre: Medical
ISBN: 0195375335

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Bone Marrow Failure Syndromes

Bone Marrow Failure Syndromes
Author: Neal S. Young
Publisher: Saunders
Total Pages: 258
Release: 2000
Genre: Medical
ISBN:

Researchers from the National Institutes of Health in Bethesda, Maryland, along with a few other contributors, explore ten disorders that may be linked only by resulting in a lowered blood count that can be traced to the failure of the bone marrow. They are acquired aplastic anemia, Fanconi's anemia, myelodysplastic syndromes, paroxysmal nocturnal hemoglobinuria, myelofibrosis, pure red cell aplasia, agranulocytosis, acquired amegakaryocytic thrombocytopenic purpura, bone marrow failure related to human immunodeficiency virus, and T cell large granular lymphocyte lymphoproliferative disorder. The text is supported by 13 color plates. The index is particularly detailed. Annotation copyrighted by Book News, Inc., Portland, OR

Diagnosis of Blood and Bone Marrow Disorders

Diagnosis of Blood and Bone Marrow Disorders
Author: Sa A. Wang
Publisher: Springer
Total Pages: 413
Release: 2018-06-04
Genre: Medical
ISBN: 3319202790

This book focuses on hematopoietic and lymphoid neoplasms that initially present as peripheral blood abnormalities, with either cytopenias or elevated peripheral blood counts, as well as non-neoplastic conditions that may raise concern for a hematologic malignancy. The scope of the book includes myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), mixed myelodysplastic/myeloproliferative neoplasms (MDS/MPN), as well as lymphomas and lymphoid leukemias that typically present initially with peripheral blood abnormalities. Within each category, a comprehensive list of differential diagnoses is discussed. For each disease entity, the reader is updated with new molecular genetic data, biomarkers, and recent applications of immunophenotyping, and how to incorporate the new information in disease diagnosis and classifications is illustrated, including the use of diagnostic algorithms where appropriate. The book employs the revised WHO Classification of Hematopoietic Neoplasms for all disease entities. Diagnosis of Blood and Bone Marrow Disorders will serve as a very useful resource for pathologists, pathologists in training, hematologists and medical technologists who are involved in the clinical work-up of patients with bone marrow and blood neoplasms. It will provide a practical and concise yet comprehensive review.

The Genetic Basis of Human Cancer

The Genetic Basis of Human Cancer
Author: Kenneth W. Kinzler
Publisher: McGraw Hill Professional
Total Pages: 358
Release: 2002
Genre: Health & Fitness
ISBN: 9780071370509

-- Current coverage of diagnosis and treatment on a wide spectrum of active cancer research.

Telomeres and Telomerase in Cancer

Telomeres and Telomerase in Cancer
Author: Keiko Hiyama
Publisher: Springer Science & Business Media
Total Pages: 375
Release: 2009-03-18
Genre: Medical
ISBN: 1603278796

Telomerase, an enzyme that maintains telomeres and endows eukaryotic cells with immortality, was first discovered in tetrahymena in 1985. In 1990s, it was proven that this enzyme also plays a key role in the infinite proliferation of human cancer cells. Now telomere and telomerase are widely accepted as important factors involved in cancer biology, and as promising diagnostic tools and therapeutic targets. Recently, role of telomerase in “cancer stem cells” has become another attractive story. Until now, there are several good books on telomere and telomerase focusing on biology in ciliates, yeasts, and mouse or basic sciences in human, providing basic scientists or students with updated knowledge.