نتایج جستجو برای: fanconi anemia
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Fanconi anemia is an autosomal recessive disorder characterized by congenital malformations, bone marrow failure, and the development of squamous cell carcinomas (SCCs) and other cancers. Recent clinicopathologic evidence has raised the possibility that an environmental factor such as human papillomavirus (HPV) may be involved in the pathogenesis of SCCs in Fanconi anemia patients. Given the hi...
oral surgery in patients with bleeding disorders is associated with a high risk of bleeding during and after surgery. this article is aimed to present the case of an eight-year-old girl suffering from severe fanconi anemia with pancytopenia who underwent a dental extraction. the hemostatic effect of local administration of tranexamic acid in combination with a primary suture seems to be extreme...
Fanconi anemia is characterized by hypersensitivity to DNA interstrand crosslinks (ICLs) and susceptibility to tumor formation. Despite the identification of numerous Fanconi anemia (FANC) genes, the mechanism by which proteins encoded by these genes protect a cell from DNA interstrand crosslinks remains unclear. The recent discovery of two DNA helicases that, when defective, cause Fanconi anem...
OBJECTIVES/HYPOTHESIS Fanconi anemia is a hereditary chromosomal instability disorder. Hearing loss and ear abnormalities are among the many manifestations reported in this disorder. In addition, Fanconi anemia patients often complain about hearing difficulties in situations with background noise (speech perception in noise difficulties). Our study aimed to describe the prevalence of hearing lo...
Failure to repair DNA damage or defective sister chromatid cohesion, a process essential for correct chromosome segregation, can be causative of chromosomal instability (CIN), which is a hallmark of many types of cancers. We investigated how frequent this occurs in head and neck squamous cell carcinoma (HNSCC) and whether specific mechanisms or genes could be linked to these phenotypes. The gen...
Progressive bone marrow failure starting in the first decade of life is one of the main characteristics of Fanconi anemia. Along with the bone marrow failure, this pathology is characterized by congenital malformations, endocrine dysfunction and an extraordinary predisposition to develop cancer. The fact that hematopoietic progenitor cells from subjects with Fanconi anemia are sensitive to both...
1. Kupfer GM, Naf D, Suliman A, Pulsipher M, D’Andrea AD. The Fanconi anemia proteins FAA and FAC, interact to form a nuclear complex. Nat. Genet. 1997; 17:487-490. 2. Garcia-Higuera I, Kuang Y, Naf D, Wasik J, D’Andrea AD: Fanconi anemia proteins FANCA, FANCC and FANCG/XRCC9 interact in a functional nuclear complex. Mol. Cell Biol. 1999;19:4866-4873. 3. Savoia A, Garcia-Higuera I, D’Andrea AD:...
BACKGROUND Effects of different sources of medical uncertainty on people's health-related cognitions, emotions, and decision making have yet to be systematically examined. PURPOSE The aim of this study is to examine how uncertainties arising from different sources are associated with decision making regarding stem cell transplantation in Fanconi anemia, a rare, inherited bone marrow failure s...
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