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排序方式: 共有347条查询结果,搜索用时 31 毫秒
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Michael Muriello Alexander Y. Kim Krista Sondergaard Schatz Natalie Beck Meral Gunay‐Aygun Julie E. Hoover‐Fong 《American journal of medical genetics. Part A》2019,179(3):410-416
We report three patients with Feingold 2 syndrome with the novel features of growth hormone deficiency associated with adenohypophyseal compression, aortic dilation, phalangeal joint contractures, memory, and sleep problems in addition to the typical features of microcephaly, brachymesophalangy, toe syndactyly, short stature, and cardiac anomalies. Microdeletions of chromosome 13q that include the MIR17HG gene were found in all three. One of the patients was treated successfully with growth hormone. In addition to expanding the phenotype of Feingold 2 syndrome, we suggest management of patients with Feingold 2 syndrome include echocardiography at the time of diagnosis in all patients and consideration of evaluation for growth hormone deficiency in patients with short stature. 相似文献
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Banu Aygun Nicole A. Mortier Matthew P. Smeltzer Barry L. Shulkin Jane S. Hankins Russell E. Ware 《American journal of hematology》2013,88(2):116-119
Glomerular hyperfiltration and microalbuminuria/proteinuria are early manifestations of sickle nephropathy. The effects of hydroxyurea therapy on these renal manifestations of sickle cell anemia (SCA) are not well defined. Our objective was to investigate the effects of hydroxyurea on glomerular filtration rate (GFR) measured by 99mTc‐DTPA clearance, and on microalbuminuria/proteinuria in children with SCA. Hydroxyurea study of long‐term effects (HUSTLE) is a prospective study (NCT00305175) with the goal of describing the long‐term cellular, molecular, and clinical effects of hydroxyurea therapy in SCA. Glomerular filtration rate, urine microalbumin, and serum cystatin C were measured before initiating hydroxyurea therapy and then repeated after 3 years. Baseline and Year 3 values for HUSTLE subjects were compared using the Wilcoxon Signed Rank test. Associations between continuous variables were evaluated using Spearman correlation coefficient. Twenty‐three children with SCA (median age 7.5 years, range, 2.5–14.0 years) received hydroxyurea at maximum tolerated dose (MTD, 24.4 ± 4.5 mg/kg/day, range, 15.3–30.6 mg/kg/day). After 3 years of treatment, GFR measured by 99mTc‐DTPA decreased significantly from 167 ± 46 mL/min/1.73 m2 to 145 ± 27 mL/min/1.73 m2 (P = 0.016). This decrease in GFR was significantly associated with increase in fetal hemoglobin (P = 0.042) and decrease in lactate dehydrogenase levels (P = 0.035). Urine microalbumin and cystatin C levels did not change significantly. Hydroxyurea at MTD is associated with a decrease in hyperfiltration in young children with SCA. Am. J. Hematol., 88:116–119, 2013. © 2012 Wiley Periodicals, Inc. 相似文献
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Haslak Fatih Barut Kenan Durak Cansu Aliyeva Ayten Yildiz Mehmet Guliyeva Vafa Varol Sevki Erdem Cebeci Sinem Oral Aygun Fatih Varli Yusuf Ziya Ozel Abdulrahman Onan Sertac Hanedan Kocoglu Ulkem Erol Meltem Karagozlu Fatih Ulug Nujin Dedeoglu Reyhan Sahin Sezgin Adrovic Amra Oztunc Funda Kasapcopur Ozgur 《Clinical rheumatology》2021,40(10):4167-4178
Clinical Rheumatology - Multi-system inflammatory syndrome in children (MIS-C) is a less understood and a rare complication of coronavirus disease-2019 (COVID-19). Given the scarce data regarding... 相似文献
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Mohammad Nafi Solaiman Al-Sabi Christian Moliin Outzen Kapel 《Acta parasitologica / Witold Stefański Institute of Parasitology, Warszawa, Poland》2013,58(4):570-576
Red foxes can be infected with diverse range of parasite species that can be transmitted to humans and pet animals, and the differential diagnosis is essential for veterinary and zoonotic risk assessment. In the present study, faecal flotation and microscopy of parasite eggs was done on 31 foxes originating from two distant localities in Denmark, the city of Copenhagen in the north east part of the island Zealand and from the southern part of the peninsular Jutland. In total, eggs of Eucoleus boehmi were recovered from a surprisingly high number of foxes (n = 22 samples; 71%). The findings represent the first observations of E. boehmi in Denmark, which is likely an overlooked infection of the upper respiratory tract of red foxes, which can be also found in other canids. Several morphological features of the eggs of E. boehmi can be used to distinguish it from other the closely related trichuroid eggs. Detecting cardiopulmonary parasites by faecal examination can be indicative of the presence of cardiopulmonary parasites based on the more sensitive post mortem analysis. 相似文献
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Kurt M Ozkan L Kurt E Cetintas SK Aygun S Ercan I Yilmazlar T Memik F 《Hepato-gastroenterology》2008,55(85):1158-1163
BACKGROUND/AIMS: 5-Fluorouracil-based chemoradiotherapy is the most widely used treatment modality in the adjuvant treatment of rectal cancer. Capecitabine represents a valuable alternative to 5-Fluorouracil in this situation. METHODOLOGY: Patients with stage II and stage III rectal adenocarcinoma, who were included in this analysis, received adjuvant chemoradiotherapy consisting of external-beam radiotherapy (50.4-54Gy) either with 5-Fluorouracil at a median dose of 300 mg/m2/day by protracted venous infusion for 5 days a week, or capecitabine at a median dose of 1650 mg/m2/day for 5 days a week after surgery. The data concerning the toxicity and the efficacy of the treatments were compared in patients treated with 5-Fluorouracil- and capecitabine-based chemoradiotherapy. RESULTS: Forty-three patients received 5-Fluorouracil, and 24 patients received capecitabine during adjuvant radiotherapy. Although there were no differences between the groups in terms of toxicity rates, distant metastasis-free survival, disease-free survival, and overall survival rates; a trend for improved loco-regional recurrence-free survival rate was observed in the capecitabine arm (p = 0.063). CONCLUSIONS: Capecitabine is at least as effective as 5-Fluorouracil in the postoperative treatment of rectal adenocarcinoma. Considering the trend for improved loco-regional recurrence-free survival rate in the capecitabine arm, it seems that the drug exerts better synergy with radiotherapy in this situation. 相似文献
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Hale Lebriz Aktun Betul Yorgunlar Mustafa Acet Banu Kumbak Aygun Nilay Karaca 《Gynecological endocrinology》2016,32(2):139-142
The aim of this study was to explore the inter-relationship between polycystic ovary syndrome and gestational diabetes mellitus, and demonstrate maternal and fetal outcomes. This was a case-control study in 1360 pregnant women who received a diagnosis of gestational diabetes mellitus between 24 and 28 weeks of gestational age. Among all diagnosed with gestational diabetes mellitus, 150 pregnant women had received a polycystic ovary syndrome, and 160 women who did not have polycystic ovary syndrome were designated as controls. The incidence of pregnancy-induced hypertension was 26.3% and 12% in the case and control groups, respectively. Preeclampsia was seen at an incidence of 12% and 6% in case and in control groups, respectively. The difference in neonatal hypoglycemia between the two groups was statistically significant, with an incidence of 17% and 5% in the case and in control groups, respectively. This study demonstrated that the presence of polycystic ovary syndrome along with gestational diabetes mellitus increases the risk of pregnancy induced hypertension by 2.4 fold, preeclampsia by 2 fold and neonatal hypoglycemia by 3.2 fold, compared to gestational diabetes mellitus alone. 相似文献