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51.
Mutations within the promoters of either of the γ-globin genes [Gγ (HBG1) and Aγ (HBG2)] lead to variably increased levels of fetal hemoglobin (Hb) (Hb F, α2γ2) in the syndrome of hereditary persistence of fetal Hb (HPFH). Carriers of such mutations are clinically asymptomatic and the mutations are usually detected as part of routine screening or family studies. We describe two new nondeletional HPFH mutations, both C>T substitutions at position c.-250, one in the HBG1 and the other in the HBG2 globin gene promoters. 相似文献
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Hoora Shaghaghi Stephen Kadlecek Charuhas Deshpande Sarmad Siddiqui Daniel Martinez Mehrdad Pourfathi Hooman Hamedani Masaru Ishii Harrilla Profka Rahim Rizi 《NMR in biomedicine》2014,27(8):939-947
Metabolic activity in the lung is known to change in response to external insults, inflammation, and cancer. We report measurements of metabolism in the isolated, perfused rat lung of healthy controls and in diseased lungs undergoing acute inflammation using hyperpolarized 1‐13C‐labeled pyruvate. The overall apparent activity of lactate dehydrogenase is shown to increase significantly (on average by a factor of 3.3) at the 7 day acute stage and to revert substantially to baseline at 21 days, while other markers indicating monocarboxylate uptake and transamination rate are unchanged. Elevated lung lactate signal levels correlate well with phosphodiester levels as determined with 31P spectroscopy and with the presence of neutrophils as determined by histology, consistent with a relationship between intracellular lactate pool labeling and the density and type of inflammatory cells present. We discuss several alternate hypotheses, and conclude that the most probable source of the observed signal increase is direct uptake and metabolism of pyruvate by inflammatory cells and primarily neutrophils. This signal is seen in high contrast to the low baseline activity of the lung. Copyright © 2014 John Wiley & Sons, Ltd. 相似文献
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Murtaza B Gondal ZI Mehmood A Shah SS Abbasi MH Tamimy MS Kazmi ST 《Journal of the College of Physicians and Surgeons--Pakistan : JCPSP》2005,15(9):568-570
Hydatid disease can involve any organ of the body and a high suspicion of this disease is justified in endemic regions. A case of massive splenic hydatid cyst with hepatic hydatidosis presented with 5 years history of abdominal distension with discomfort is reported. Clinically she had massive splenomegaly with hepatomegaly. Laboratory and radiological findings were diagnostic of hydatid disease of the liver and spleen. Peroperatively huge (35 x 20 cm) splenic hydatid cyst with two liver cysts was seen. Splenectomy was performed and hepatic lesions were subjected to endocystectomy with capsulorrhaphy. 相似文献
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Tanya B. Dorff David I. Quinn Jacek K. Pinski Amir Goldkorn Sarmad Sadeghi Denice Tsao-Wei Susan Groshen Peter Kuhn Mitchell E. Gross 《Clinical genitourinary cancer》2019,17(4):241-247.e1
BackgroundSignaling via the Src pathway is thought to be a mediator of resistance to androgen targeted therapy in prostate cancer. We studied whether adding the Src inhibitor dasatinib to abiraterone would delay progression.Patients and MethodsEligible patients had metastatic castration-resistant prostate cancer (mCRPC), without prior chemotherapy. Abiraterone was prescribed at 1000 mg daily with prednisone 5 mg twice daily in both arms, and dasatinib 100 mg daily was added for Arm B. The primary endpoint was progression-free survival (PFS). The interim analysis was planned after 48 subjects, but the study was terminated early. PFS was evaluated using a 1-sided log rank test. The Fisher exact test was used for other categorical data analyses. Circulating tumor cells (CTCs) were identified with the Epic platform.ResultsWith 26 men randomized and a median follow up of 41.8 months, the median PFS was 15.7 months (95% confidence interval, 8.2-49.0+ months) for Arm B and 9.0 months (95% confidence interval, 4.4-30.7 months) for Arm A (P = .15). Response Evaluation Criteria in Solid Tumors responses were seen in 5 (36%) of 14 patients, including 2 complete responses (CRs) on Arm B, and 2 (17%) of 12 responses without CR on Arm A (P = .39). Grade ≥ 3 toxicities more common in Arm B included hypertension, pleural effusion/dyspnea, and gastrointestinal effects. CTCs were detected at baseline in 10 of 19 evaluable patients (median, 2.7/mL blood [range 0.41-59.7]). At week 4, CTCs increased in 1 (10%) of 10 patients on Arm A and 4 (44%) of 9 patients on Arm B.ConclusionDasatinib did not significantly prolong PFS in combination with abiraterone, although power was limited owing to the incomplete study cohort. Treatment with the combination was associated with robust objective responses, including Response Evaluation Criteria in Solid Tumors CRs. 相似文献
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Steven Yu Maryam Shabihkhani Dongyun Yang Eddie Thara Anthony Senagore Heinz-Josef Lenz Sarmad Sadeghi Afsaneh Barzi 《Clinical colorectal cancer》2013,12(4):275-279
BackgroundFindings from multiple clinical trials established AC as a standard of care for stage III colon cancer. However, there is no recommended standard time for delivery of AC. We explored the timeliness of AC with FOLFOX as a predictor of recurrence and its role as a quality indicator in patients with stage III colon cancer.Patients and MethodsWe conducted a retrospective analysis of patients with colon cancer who received AC at Los Angeles County Hospital and Norris Cancer Center between 2003 and 2011. Time to recurrence (TTR) was the primary end point of the study, Kaplan-Meier curves and log-rank tests were used to assess the association between timing of the AC and TTR.ResultsWe identified 102 patients with stage III colon cancer who had received AC. With a median follow-up of 3.2 years, time from surgery to AC was not a predictor of recurrence (P = .19). However, there was a nonsignificant trend toward higher risk of systemic recurrence when the delay of AC was more than 12 weeks (P = .068). Additionally, a significant association was found between age, race, type of hospital, and timeliness of AC.ConclusionTo date, our study is the largest data set to assess the timeliness of FOLFOX as a predictor of outcome in stage III colon cancer. Because FOLFOX is the current standard for AC for colon cancer, we report a trend toward worse outcome when FOLFOX is delayed more than 12 weeks. This result, thus supports quality measures to assess the timeliness of AC in stage III colon cancer and might have a meaningful effect on the care of patients with colon cancer. 相似文献
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Murtaza B Gondal ZI Mehmood A Shah SS Abbasi MH Tamimy MS Kazmi ST 《Journal of the College of Physicians and Surgeons--Pakistan : JCPSP》2005,15(11):728-730
A 45 years old man presented with progressively increasing abdominal mass of two years duration. The mass had rapidly increased in size in the past five months. The patient was emaciated, with a grossly protuberant abdomen. The biopsy revealed fibrosarcoma. Extirpation of the tumour was contemplated. A huge 82 x 53 x 32 cm retroperitoneal mass was removed and the histopathology confirmed it as malignant triton tumour. 相似文献