fanconi anemia/ateş

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Atypical PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis) in a young girl with Fanconi anemia.

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OBJECTIVE To describe a case of atypical, severe, periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA syndrome) in a patient with Fanconi anemia. Important aspects about the PFAPA syndrome and Fanconi anemia are reviewed. METHODS An 8-year-old girl with Fanconi anemia was

Prolonged administration of granulocyte colony-stimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study.

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This report examines the effect of filgrastim (granulocyte colony-stimulating factor, [G-CSF] in 12 patients with neutropenia [absolute neutrophil count [ANC] < 1,000/mm3]) caused by Fanconi anemia (FA). Two of 14 patients who were evaluated for study entry were ineligible because of unsuspected

Sensitivity of hyperthermia-treated human cells to killing by ultraviolet or gamma radiation.

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Human xeroderma pigmentosum (XP) or Fanconi anemia (FA) fibroblasts displayed shouldered 45 degrees C heat survival curves not significantly different from normal fibroblasts, a result similar to that previously found for ataxia telangiectasia (AT) cells, indicating heat resistance is not linked to

Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.

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We report here an Indian case with Fanconi anemia (FA) presented with fever, pallor, short stature, hyperpigmentation and upper limb anomaly. Chromosome breakage analysis together with FANCD2 Western blot monoubiquitination assay confirmed the diagnosis as FA. Multiplex ligation-dependent probe

Vibrio cholerae (non-O1, non-O139) sepsis in a child with Fanconi anemia.

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A 9-year-old female child who was a known case of Fanconi anemia was admitted to hospital because of fever and gastrointestinal symptoms. Blood culture at the time of admission yielded growth of Gram-negative curved rod that was identified as Vibrio cholerae (non-O1, non-O139), whereas repeated

Fanconi anemia with incidental haemoglobin e trait: the first reported case in literature.

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Fanconi anemia (FA), commonly inherited as an autosomal recessive trait, is the commonest cause of inherited bone marrow failure syndrome often accompanied by skeletal deformities, genitourinary abnormalities and an increased risk of malignancies especially acute myeloid leukemia. Haemoglobin E

Precursor-T lymphoblastic lymphoma after unrelated bone marrow transplantation in a patient with Fanconi anemia.

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Lymphoid malignancies are rare in patients with Fanconi anemia (FA), particularly after bone marrow transplantation. A boy, who was diagnosed with FA at the age of 5; underwent successful bone marrow transplantation at the age of 11. One year later, he presented with fever and dry cough, and was

Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.

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Fanconi anemia (FA) is a rare inherited syndrome characterized by progressive bone marrow failure (BMF), abnormal skin pigmentation, short stature, and increased cancer risk. BMF in FA is multifactorial and largely results from the death of hematopoietic stem cells due to genomic instability. Also,

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.

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Unrecognized genome instability syndromes can potentially impede the rational treatment of cancer in rare patients. Identification of cancer patients with a hereditary condition is a compelling necessity for oncologists, giving varying hypersensitivities to various chemotherapeutic agents or

Rare cytogenetic abnormalities in acute myeloid leukemia transformed from Fanconi anemia - a case report.

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BACKGROUND Fanconi's anemia (FA) is an inherited bone marrow failure syndrome that carries a higher risk of transformation to acute myeloid leukemia (AML) when compared with general population. AML is the initial presentation in approximately one third of patients. METHODS A 17 year old male

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