Our data demonstrated that ANA positivity is often found in adult and children patients with ITP, and indicate that the detection of ANA positivity is not enough to identify those patients with ITP who are at risk of developing SLE or other CTD. There is a statistically significant difference in terms of ANA positivity between childhood acute and chronic ITP patients. We think that ANA positivity may be an indicator in terms of chronicity for childhood ITP. However, large-scale studies should be considered to determine the significance of ANA positivity and their utility in differentiating acute from chronic ITP.
Factor V Leiden (FV-Leiden) and prothrombin gene mutations (FII G20210A) are well-established independent risk factors for thrombosis. In the recent years, many studies have suggested that these mutations are associated with an increased risk of recurrent pregnancy loss (RPL). We aimed to investigate the prevalence of these molecular defects in subjects with a history of early RPL. One hundred and fourteen women with three or more consecutive unexplained first-trimester miscarriages were compared to 185 parous women with uncomplicated pregnancies from the same ethnic origin. The presence of FV-Leiden and FII G20210A mutations was assessed by polymerase chain reaction analysis. Overall, 11 out of the 114 women with early RPL (9.6%) had either FV-Leiden or FII G20210A mutation, as compared with 16 out of the 185 women with normal pregnancies (8.6%; p = 0.756). The prevalence of FV-Leiden mutation was 7.9% (9/114) in patient group, compared with 7% (13/185) in control group (p = 0.780). One hundred and two patients were primary and 12 were secondary aborters. All FV-Leiden positive cases were primary aborters (8.8%; 9/102, p = 0.584). Concerning the FII G20210A, two out of 114 (1.7%) were first-trimester RPL (primary aborters) and three out of 185 (1.6%) controls were carriers of the FII G20210A mutation (1.7 vs 1.6%, p = 0.931). The results obtained from patients with first-trimester RPL and the control group have no statistical significant differences in the prevalence of FV-Leiden and FII G20210A mutations. These results suggest that mutations have no role in etiology of first-trimester recurrent abortions.
Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by a reciprocal translocation between chromosomes 9 and 22. Imatinib mesylate is a potent and selective inhibitory of the BCR/ABL tyrosine kinase. Imatinib is a first choice of treatment of chronic phase CML. It has also shown activity in patients with CML in accelerated or blastic phases. However, the penetration of the drug and its active metabolites into the central nervous system (CNS) is poor. Therefore, the CNS is sanctuary site for malignant cells in patients treated with imatinib. Herein, we report a patient with CML in accelerated phase that developed central nervous system disease while on imatinib mesylate therapy.
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. Several studies have focused on the differences between frequency of the mutations and their phenotypical manifestations. The aim of this study was to evaluate whether or not this phenotypical variation is associated with the existence of particular mutations. Twelve MEFV (Mediterranean fever) gene mutations were investigated in 119 patients suffering from FMF. Heterozygote M694V (21/119), heterozygote E148Q (21/119), homozygote M694V (17/119) and heterozygote V726A (12/119) mutations were the most common mutations. Patients were grouped according to the presence of the M694V mutation: group I was M694V/M694V, group II was M694V/others, and group III was other/other. Mean severity scores for the groups were 13.94 +/- 4.10, 10.79 +/- 3.01 and 8.31 +/- 2.26, respectively. There were statistically significant differences between the mean severity scores of groups I and II (p = 0.029), groups I and III (p < 0.0001), and groups II and III (p < 0.0001). Diagnosis of amyloidosis was established in four (23%) patients of group I, and three (8%) patients of group II, but in none of the patients in group III. There was also a statistically significant difference between groups I and III (p = 0.046), but not between groups II and III (p = 0.083) and groups I and II (p = 0.317) in terms of amyloidosis development. In conclusion, we found a higher disease severity score and higher prevalence of amyloidosis in FMF patients who were M694V mutation carriers. Many ethnic groups live in Anatolia and more ethnic origin-based studies are needed to determine the real effect of these mutations on disease severity and amyloidosis.
Background: Primary pure breast sarcoma is a rare disease and constitutes 0.2–1.0% of all mammary malignancies. The establishment of a diagnosis of soft tissue sarcoma is difficult in adults. Immunohistochemical analysis usually proves to be helpful in indistinguishable cases. The simplistic step is to classify sarcomas on a simple descriptive basis as spindle cell sarcomas, myxoid sarcomas, pleomorphic sarcomas, and small round cell sarcomas. Case Report: Here, we present a rare case of primary spindle cell sarcoma of the breast. A 43-year-old woman was admitted to our clinic with a 2-month history of a left breast lump. Histopathological examination showed a tumor of 2.5 cm in diameter and of nuclear and histological grade 2. In the immunohistochemical examination, vimentin positivity, high nuclear overexpression of P53, high Ki-67 and S-100, desmin, leukocyte common antigen, keratin, and smooth muscle antigen, CD34, HMB45 and EMA negativity were detected. Conclusion: Most invasive breast neoplasms are epithelial tumors, and mesenchymal breast tumors are rarely seen. In primary breast sarcoma, adequate surgical tumor excision, tumor grade, and tumor diameter seem to be the most important prognostic factors.
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