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2.
Oxf Med Case Reports ; 2018(12): omy096, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30410776

RESUMO

Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. This case has new ophthalmologic manifestations. We confirmed the diagnosis by detection of high rate of sister chromatid exchange. The patient received chemotherapy but did not tolerate it well and developed fungal pneumonia.

3.
BMC Hematol ; 18: 28, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30250741

RESUMO

Background: Idiopathic (immune) thrombocytopenic purpura (ITP) is an acquired disorder characterized by autoantibodies against platelet membrane antigens. Several studies found an association between Helicobacter Pylori infection and the incidence of ITP. So far, It is still unclear whether H. pylori eradication will increase platelet counts in adult ITP patients. We conduct this study to investigate platelet recovery in ITP patients after H. pylori eradication. Methods: This is a prospective study. The diagnostic criterion for Idiopathic thrombocytopenic purpura is: isolated thrombocytopenia, with no evidence of any underlying causes like drugs, TTP, SLE, hepatitis, HIV,CLL and… etc. We examined blood smears of all patients. We have diagnosed Helicobacter pylori infection by histological examination of several biopsies obtained from stomach and duodenum by esophagogastroduodenoscopy (EGD). If EGD was not applicable due to patient's poor situation or platelet count, H.pylori infection was diagnosed by the positivity of serum antibodies or respiratory urease test. We treated infected patients with triple therapy (omeprazole 40 mg once daily, amoxicillin 1000 mg twice daily and clarithromycin 500 mg twice daily) for 14 days. Uninfected patients did not receive any treatment. We did platelet quantification at the beginning of the study, at the end of the first month, at the end of the third month and at the end of the sixth month. Results: This study involved 50 patients with chronic ITP, 29 males (58%) and 21 females (42%). Participants ages range between18 and 51 years (mean age = 28.60 years). We diagnosed H. pylori in 36 patients (72%), who were treated with triple therapy. At the end of the sixth month, 10 of them (27.77%) showed complete response, and 18 of them (50%) showed partial response. The 14 uninfected patients, who did not receive any treatment, did not show neither complete nor partial response. Patient sex and age were not associated with achieving response, while baseline platelet count and H.pylori infection did. Conclusion: Helicobacter pylori eradication significantly increases platelet counts in adult ITP patients.

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