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61.
62.
Yanjiao Li Hongsuo Liang Dekai Yuan Baoling Liu Ling Liu Yongfa Zhang Kaiyu Hou Yunchao Zhang Bin Chen Jing Ding Yunxia Li Qilin Wang Haiying Wu Hong Shi Min Hu 《Annals of human genetics》2020,84(4):339-344
Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for ∼70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of rs66612022 (COL1A2:p.Gly328Ser) related to glycine substitution was found in the seven patients. Moreover, we identified a novel missense mutation (HMMR:p.Glu2Gln). Interestingly, the individuals of this family with both the mutations were suffering from OI, while the others carried one or none of them are normal. The mutations of COL1A2 and HMMR and their combined effect on OI would further expand the genetic spectrum of OI. 相似文献
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64.
Ming-wei?LiuEmail author Mei-xian?Su Wei?Zhang Yan-qiong?Wang Mei?Chen Li?Wang Chuan-yun?Qian 《BMC complementary and alternative medicine》2014,14(1):498
Background
Exposure to paraquat results in acute lung injury. A systemic inflammatory response has been widely established as a contributor to paraquat-induced acute lung injury. Recent studies have reported that consumption of Xuebijing prevents inflammatory response-induced diseases. This study investigated whether consumption of Xuebijing protected rats against paraquat-induced acute lung injury.Methods
Adult male Sprague Dawley rats were randomly divided into four groups: control group; paraquat group; paraquat?+?Xuebijing group; and paraquat?+?dexamethasone group. Rats in the paraquat, paraquat?+?Xuebijing and paraquat?+?dexamethasone groups were intraperitoneally injected with paraquat (30 mg/kg) or administered paraquat and Xuebijing at 8 mL/kg or dexamethasone at 5 mg/kg, respectively, via an injection into the tail vein. Lung p38 MAPK, NF-κB65, IkB, p-IκB-α, HIF-1α, Nrf2 and TGF-β1 expression were essayed using western blotting. IL-6, TNF-α, IL-1β, IL-10, TGF-β1 and PIIIP were measured using ELISA. ROS, oxidised glutathione and glutathione activity were measured.Results
After inducing acute lung injury with paraquat for 24 h, Xuebijing was observed to block lung p-p38 MAPK, NF-κB65, HIF-1α, p-IκB-α and TGF-β1 expression, and increased Nrf2 and IkB expression. The numbers of neutrophils and lymphocytes and total number of cells were significantly lower in the Xuebijing group compared with the control group. IL-6, TNF-α, IL-1β, TGF-β1 and PIIIP levels were significantly decreased in the Xuebijing group. ROS and oxidised glutathione activity were markedly inhibited by Xuebijing. Histological evaluation showed attenuation of the effects of Xuebijing on paraquat-induced lung injury. Compared with the paraquat?+?dexamethasone group, the Xuebijing?+?paraquat group showed no significant differences.Conclusions
Inhibiting the expression of p38 MAPK and NF-κB65 was crucial for the protective effects of Xuebijing on paraquat-induced acute lung injury. The findings suggest that Xuebijing could effectively ameliorate paraquat-induced acute lung injury in rats. Xuebijing was as effective as dexamethasone at improving paraquat-induced lung injury by regulating lung inflammation, lung function and oxidative stress responses.65.
《Pediatric Dental Journal》2014,24(1):17-21
BackgroundBiochemical markers from saliva and gingival crevicular fluid are of interest in preventing periodontal disease. We investigated the possibility of detecting aspartate aminotransferase (AST) levels in children and teenagers, as well as the usefulness of the addition of measurements of N-bezyoyl-DL-arginine-2-naphthylamide (BANA) activity and AST release during regular oral check-ups.Subjects and methodsFifty-four children (33 males; 8–15 years) from the pediatric dental clinic of Hiroshima University Hospital were enrolled. Periodontal conditions were investigated using scores of the community periodontal index (CPI), BANA and AST. Bacterial species were also identified.ResultsIn 51 eligible subjects, 64.7% were CPI 1 and 35.3% were CPI 2, and these subjects were diagnosed as having gingivitis. A high BANA score was increased in the CPI 2 group (p = 0.022) and the AST score showed a similar trend. All scores of BANA and AST were found in the same CPI. The number of subjects with higher scores of BANA and/or AST increased with increasing age.ConclusionsIt was possible to measure AST levels in children and teenagers. It is suggested that we provide more specific information to children and their guardian using BANA and AST. Measuring biomarkers during regular oral check-ups could lead to an early diagnosis and intervention to avoid the progression of periodontitis during the childhood and teenage years. 相似文献
66.
《Journal of cranio-maxillo-facial surgery》2014,42(8):2041-2044
ObjectiveThe purpose of this study was to assess the therapeutic efficacy of oral perforated defect reconstruction with a double anterior (anterolateral and anteromedial) thigh flap through the modified lateral lip-submandibular approach.Materials and methodsFrom July 2010 to August 2013, eight patients with oral perforated defects secondary to oral cancer ablation involving the superior partial mandible or the posterior partial maxilla, with immediate reconstruction by double anterior (anterolateral and anteromedial) thigh flaps, were retrospectively enrolled into this study.ResultsAll double anterior flaps were musculocutaneous flaps. Seven double flaps resulted in good functional and aesthetic outcomes with complete flap survival. One patient required operative exploration in the postoperative period due to thrombosis in the external jugular vein. After the salvage, one of the double flaps in the intraoral region resulted in partial failure of the superficial skin of the flap. No functional impairment at the donor sites occurred in any of the cases.ConclusionThe double anterior (anterolateral and anteromedial) thigh flap is a feasible and acceptable technique for reconstruction of an oral perforated defect involving the mandible or the maxilla through the modified lateral lip-submandibular approach. It presents a very acceptable aesthetic and functional result with the additional advantage of low morbidity at the donor site. 相似文献
67.
目的 探讨基于MRI测量成人髌下脂肪垫厚度的可行性及成人髌下脂肪垫厚度与性别、年龄、体重、身高的相关性,为全膝关节置换时考虑保留髌下脂肪垫厚度提供依据。方法 随机抽取1 019例18~80岁成人膝关节磁共振扫描的影像作为研究对象,取膝关节正中矢状面影像作为测量层面,以髌下脂肪垫前缘画一基线,取其与脂肪垫后缘最远点的距离作为测量厚度,测量结果采用SPSS26.0统计学软件包进行统计学分析。结果 男性髌下脂肪垫平均厚度大于女性,分别为(28.08±4.64)mm和(24.58±4.22)mm,差异有统计学意义(P <0.05);男性与女性年龄分别为(49.09±17.78)岁和(50.42±17.88)岁,差异无统计学意义(P> 0.05);男性身高、体质量均大于女性,差异有统计学意义(P <0.05),考虑为生理性差异;男性髌下脂肪垫厚度与年龄、身高、体重均无相关性(P> 0.05);女性髌下脂肪垫厚度与体重具有相关性(P <0.05),与年龄、身高均无相关性(P>0.05)。结论 男性髌下脂肪垫平均厚度大于女性且与年龄、身高、体重没有相关性,而女性脂... 相似文献
68.
患者,男,44岁。左前臂结节逐渐增大,伴刺痛4年。组织病理检查示真皮内可见肿瘤细胞团,其内可见导管状分化结构。细胞团周边细胞的细胞核小深染,胞浆少,中心细胞核大,包浆嗜酸性淡染。结合临床和组织病理表现,诊断为小汗腺螺旋腺瘤。手术切除皮损。 相似文献
69.
70.
《European journal of surgical oncology》2020,46(12):2243-2247
BackgroundMany Eastern reports attempted to identify predictive variables for esophago-jejunal anastomosis leakage (EJAL) after total gastrectomy for cancer. There are no definitive answers about reliable risk factors for EJAL. This retrospective study shows the largest Western series focused on this topic.MethodsThis is a multicenter retrospective study analyzing patients’ datasets collected by 18 Italian referral Centres of the Italian Research Group for Gastric Cancer (GIRCG) from 2000 to 2018. The inclusion criteria were pathological diagnosis of gastric and esophageal (Siewert III) carcinoma requiring total gastrectomy. The primary end point of risk analysis was the occurrence of EJAL; secondary end points were post-operative (30-day) morbidity and mortality, length of stay (LoS), and survival.ResultsData of 1750 patients submitted to total gastrectomy were collected. EJAL developed in 116 (6.6%) patients and represented the 26.3% of all the 441 observed post-operative surgical complications. EJAL diagnosis was followed by a reoperation in 39 (33.6%) patients and by an endoscopic/radiological procedure in 30 cases (25.9%). In 47 patients (40.5%) EJAL was managed with conservative approach. Post-operative LoS and mortality were significantly higher after EJAL occurrence (27 days versus 12 days and 8.6% versus 1.6%, respectively). At risk analysis, comorbidities (particularly, if respiratory), minimally invasive surgery, extended lymphadenectomy, and anastomotic technique resulted significant predictive factors for EJAL. EJAL did not significantly affect survival.ConclusionsThese results were consistent with Asian experiences: the frequency of EJAL and its higher rate observed in patients with comorbidities or after minimally invasive approach were confirmed. 相似文献