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Background: The relation with SNF5 mutation and chromosome 22 abnormalities is not clear in hematological neoplasms. Methods: To elucidate the relevance of the SNF5 gene on 22q11.2, karyotypes were reviewed in 283 hematological neoplasms. Loss of heterozygosity (LOH) on 22q was analyzed in 21 plasma cell myelomas without chromosome 22 abnormalities. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) on the SNF5 gene was analyzed in 8 hematological neoplasms with 22q- or -22, and 8 chronic myelogenous leukemias (CMLs) in blast crisis. Fluorescence in situ hybridization (FISH) was performed in 1 myelodysplastic syndrome (MDS) case with -22,del(22)(q11.2 q13). Results: 22q- or -22 was observed in 36 patients. LOH on 22q was detected in 1 of the 21 myelomas. Mobility shifts were found by PCR-SSCP analysis in 2 CMLs, whereas sequence analysis showed polymorphisms. FISH analysis revealed the SNF5 gene was not deleted in the MDS case. Conclusion: These results suggest that alterations of the SNF5 gene are rare in hematological neoplasms with chromosome 22 abnormalities. Haploinsufficiency may contribute to the development of these neoplasms. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A 69-year-old woman with essential thrombocythemia (ET) developed giant ecchymosis, and she was admitted to hospital. Marked anemia (Hb 8.1 g/dl) accompanied by a prolonged activated partial thromboplastin time (89.6 s) was observed, and she received red blood cells (RBC) and fresh frozen plasma (FFP). On day 2 after admission, consciousness disturbance suddenly occurred, whereas computed tomography of the brain showed no evidence of bleeding. As the ecchymosis progressed, she developed shock. Although RBC and FFP transfusions were administered, she developed multi-organ failure and died 48 h after admission. Low factor VIII activity (<1%) accompanied by factor VIII inhibitor (17 Bethesda units) was found after her death. An autopsy revealed cerebral infarction without cerebral herniation. To date, acquired hemophilia A accompanying ET has been described in only one other patient. Although acquired factor VIII inhibitor is a rare disease, it should be tested for in ET patients with marked hemorrhagic tendency. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background and Aims: Patients with esophageal cancer often develop metastatic disease after esophageal resection and generally receive cisplatin-based chemotherapy or chemoradiotherapy. The efficacy and toxicity of the combination of docetaxel, 5-fluorouracil (5-FU) and cisplatin (DFC) as a second-line chemotherapy were evaluated in patients with postoperative metastatic esophageal cancer refractory to cisplatin-based chemotherapy. Patients and Methods: Twenty patients with metastatic esophageal cancer after esophagectomy refractory to cispatin-based therapy were included in this study. The DFC regimen consisted of docetaxel (60 mg/m2) on day 1, 5-FU (500 mg/day) on days 1–5 and cisplatin (10 mg/day) on days 1–5, being repeated every 3 weeks. Results: A total of 49 cycles (median 2, range 1–6) was administered to 20 patients. The median follow-up was 8 months (range 3–24). Of the 20 patients, 1 had a complete response, 6 had a partial response, 6 had stable and 7 had progressive disease. Median time to progression for all patients was 4 months (95% Cl 1.7–5.6). The median overall survival for all patients was 8 months (95% CI 5.7–10.3). The major toxicity was myelosuppression. Neutropenia of grade 3 or more occurred in 13 patients (65%), and thrombocytopenia of grade 3 occurred in 1 patient (5%). Febrile neuropenia was observed in 1 patient (5%). There was no treatment-related mortality. Conclusion: DFC is a feasible and promising regimen as a second-line therapy in metastatic/recurrent esophageal cancer refractory to cisplatin-based chemotherapy. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Introduction: We investigated the status of erectile function and urinary continence after radical prostatectomy to investigate a possible relation between them and then determined whether the status of postoperative urinary continence affected erectile function. Patients and Methods: Seventy-six patients who had no symptoms of erectile dysfunction or urinary incontinence preoperatively were included in this study. The postoperative status of erectile function and urinary continence was investigated using a self-reported patient questionnaire. Results: Thirteen of 27 patients (48.1%) who underwent nerve-sparing procedures maintained erectile function, while 7 of 49 patients (14.2%) who underwent non-nerve-sparing procedures maintained it postoperatively. None of the 27 patients in the nerve-sparing procedure group reported incontinence, whereas 3 of the 49 patients (6.1%) who underwent non-nerve-sparing procedures reported moderate incontinence. However, no significant correlation between the International Index of Erectile Function-5 score and the Incontinence Impact Questionnaire score was seen. Conclusion: No relation between the status of urinary continence and erectile function was shown, regardless of the nerve-sparing nature of the prostatectomy. Copyright © 2004 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]