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??Objective??To analyze the clinical and gene mutation characteristics of Duchenne progressive muscular dystrophy ??DMD????summarize the gene mutation hotspots in 97 cases and to explore the correlation between clinical manifestations and genotype. Methods??Totally 97 patients with DMD diagnosed by genetic examination from January 2014 to 2018 were collected and analyzed. The clinical manifestations??serum analyses and gene mutation results were analyzed. Results??The main clinical manifestations of 97 patients??96 boys?? were feeding difficulties?? increased muscle enzyme and limb weakness. Creatine kinase??CK???? lactate dehydrogenase??LDH?? and aspartate aminotransferase??AST?? muscle enzymes were significantly increased. By combining deep-sequencing technologies??the large deletions of DMD gene mutation was in 62 cases??63.92%????there were 11 cases??11.34%?? of large duplication mutation??and 24 cases??24.74%?? of point mutation. All of the mutations could occur in any position in the DMD gene??but there were two hot spots??45 cases were located in the central region gene exon 45??55??72.58% ????12 cases of deletion mutation were located in 5’exon end exon 2??19 area??19.35%??. Conclusion??The main clinical manifestations of the DMD children are feeding difficulty??increased muscle enzyme and limb weakness. The patients with significantly increased muscle enzyme should receive a timely defection of DMD gene.     

低钠血症、多尿症与颈髓损伤

目的探讨颈髓损伤后出现多尿症、低钠血症的机理及治疗方法。方法对1例强直性脊柱炎颈髓损伤并多尿症的原因进行分析并结合文献复习进行讨论。结果病人存在尿崩,且为肾性。多尿原因之一为伤前就存在的肾性尿崩,其二是颈髓损伤所致的交感神经功能紊乱;多尿症及低钠血症是颈髓损伤后常见并发症。结论颈髓损伤后发生的低钠血症存在两种理论解释,一是抗利尿激素分泌异常综合症(SIADHS),一是脑盐耗综合征(CSWS)。多尿症同样有两种解释,一为颈髓损伤所致的交感神经抑制,再就是颈髓损伤同时颅内损害所致的中枢性尿崩。确切发病机理尚有待于进一步研究与明确。     

ZTA和Al2O3正畸托槽的研究

目的 分别评价ZTA(ZrO2增韧Al2O3)和Al2O3陶瓷的性能,探索一种适合制备正畸托槽的陶瓷材料.方法 选用ZrO2(3mol%Y2O3)和α-Al2O3粉体作为原料,利用热压铸成型工艺制备陶瓷托槽,在1600 ℃下烧结.将制得样品进行各方面的性能测试.结果 采用纯Al2O3制备的托槽抗弯强度远远低于ZTA复合陶瓷.结论 牙科正畸托槽可以选用具有较高抗弯强度的ZTA复合陶瓷作为原料.     

利用组织芯片探讨PTEN在喉鳞状细胞癌中的表达

目的:探讨PTEN在喉癌中的表达以及与病理学分级、临床TNM分期和预后等因素的关系。方法:应用组织芯片技术结合免疫组织化学、原位杂交的方法对146例喉鳞状细胞癌、40例癌前期病变以及26例声带息肉患者组织中PTENmRNA以及蛋白的表达,结合临床相关因素进行统计分析。结果:PTEN蛋白在声带息肉中无表达,癌前期病变以及喉癌组织的阳性表达率分别为40.00%、43.15%。在喉癌组织中的表达与喉癌的病理分级以及预后差异有统计学意义,与发生部位、临床分期、淋巴结转移差异无统计学意义。PTEN在癌前期病变及喉癌组织的原位杂交阳性表达率分别为77.50%与59.59%。PTEN在癌前期病变以及喉癌组织的原位杂交阳性表达率高于免疫组织化学的蛋白阳性表达率。结论:组织微阵列是一种高效率的实验方法,具有快速、高精确度、节约资源的特点。PTEN的表达与喉癌的预后有关。     

下颌骨边缘性骨髓炎208例临床总结

目的:分析下颌骨边缘性骨髓炎患者的病因及最佳治疗方法。方法:对过去10年中我们收治的208例下颌骨边缘性骨髓炎患者进行回顾性归类和统计。结果:208例全部治愈,其中手术191例,非手术17例。结论:早期诊断、及时清除病灶对下颌骨边缘性骨髓炎患者有重要意义。     

胃肠道间质瘤21例临床分析

目的:探讨胃肠道间质瘤(GIST)的诊断和治疗方法。方法:收集21例GIST临床资料,进行回顾性分析。结果:21例平均年龄56.2岁,主要临床表现为腹部胀痛、腹部包块、黑便及贫血,2例无任何不适于查体时发现。9例经超声内镜检查确诊。21例均行根治性手术,肿瘤位于胃14例,小肠5例,肠系膜2例。21例均经术后病理检查及免疫组化确诊GIST,免疫组化表型以CD117、CD34阳性率较高。根据Miettinen等原则分类,良性5例,低度恶性10例,中等度恶性3例,高度恶性3例。结论:GIST的术前诊断有赖于纤维内镜、超声内镜、B超、CT等检查的综合应用,病理检查及免疫组化表型分析是确诊金标准,手术切除是最有效的治疗手段。     

军事训练伤致腕部尺骨撞击综合征的非手术治疗

目的探讨军事训练伤致尺骨撞击综合征的非手术治疗方法及效果。方法2001年12月—2005年12月,对因训练伤后确诊为腕部尺骨撞击综合征的43例患者给予腕部外固定、关节内注射、局部理疗及口服非甾体类抗炎药物治疗。结果非手术治疗后,19例(44.2%)患者腕部、手部症状出现显著改善,患者恢复伤前工作及训练;13例(30.2%)症状改善,但不能恢复原有工作及训练,仍有11例(25.6%)腕部症状无改善,总有效率为74.4%。结论对训练伤导致尺骨撞击综合征非手术治疗有效,早期诊断、早期治疗是保证疗效的关键。     

Intraoperative choroidal detachment during small-gauge vitrectomy: analysis of causes,anatomic, and visual outcomes

IntroductionTo investigate the incidence and causes of intraoperative choroidal detachment (CD) during small-gauge vitrectomy, as well as the anatomic and visual outcomes.MethodsWe retrospectively reviewed the medical records of 1026 consecutive patients who underwent small-gauge vitrectomy from June 2017 to December 2018 at Zhongshan Ophthalmic Centre, Guangzhou, China. Data on the presence, location, and extent of intraoperative CD and its relationship to the infusion cannula were collected. Patient demographic characteristics and postoperative anatomic and visual outcomes were also assessed.ResultsA total of six cases were found to have intraoperative CD, including two with serous CD, three with limited haemorrhagic CD, and one with CD caused by inadvertent perfusion of gas during air/fluid exchange. Retraction of the infusion cannula and acute ocular hypotony were found to be the main causes of intraoperative CD in five out of the six cases. The best-corrected visual acuity of all cases significantly improved after the surgery.ConclusionThe incidence of intraoperative CD during small-gauge vitrectomy is low; the predominant causes are retraction of the infusion cannula and acute ocular hypotony. Immediate awareness and timely closure of the incision may contribute to a better surgical prognosis.Subject terms: Uveal diseases, Diseases     

Contribution Ratio Assessment of Process Parameters on Robotic Milling Performance

Robotic milling has broad application prospects in many processing fields. However, the milling performance of a robot in a certain posture, such as in face milling or grooving tasks, is extremely sensitive to process parameters due to the influence of the serial structure of the robot system. Improper process parameters are prone to produce machining defects such as low surface quality. These deficiencies substantially decrease the further application development of robotic milling. Therefore, this paper selected a certain posture and carried out the robotic flat-end milling experiments on a 7075-T651 high-strength aeronautical aluminum alloy under dry conditions. Milling load, surface quality and vibration were selected to assess the influence of process parameters like milling depth, spindle speed and feed rate on the milling performance. Most notably, the contribution ratio based on the analysis of variance (ANOVA) was introduced to statistically investigate the relation between parameters and milling performance. The obtained results show that milling depth is highly significant in milling load, which had a contribution ratio of 69.25%. Milling depth is also highly significant in vibration, which had a contribution ratio of 51.41% in the X direction, 41.42% in the Y direction and 75.97% in the Z direction. Moreover, the spindle speed is highly significant in surface roughness, which had a contribution ratio of 48.02%. This present study aims to quantitatively evaluate the influence of key process parameters on robotic milling performance, which helps to select reasonable milling parameters and improve the milling performance of the robot system. It is beneficial to give full play to the advantages of robots and present more possibilities of robot applications in machining and manufacturing.     

Vitamin D Status Presents Different Relationships with Severity in Metabolic-Associated Fatty Liver Disease Patients with or without Hepatitis B Infection

Whether the associations between serum vitamin D (VitD) and metabolic-associated fatty liver disease (MAFLD) vary with chronic hepatitis B (CHB) infection has not been well established. This study aims to investigate the relationships between serum VitD and metabolism, liver fat content (LFC) and fibrosis among MAFLD patients with and without CHB. Consecutive subjects (healthy controls: 360, CHB: 684, MAFLD: 521, CHB with MAFLD: 206) were prospectively enrolled between January 2015 and December 2021. Anthropometric, laboratory, imaging, and histological evaluations were conducted, with LFC measured via magnetic resonance imaging-based proton density fat fraction (MRI-PDFF). Serum VitD levels were lower in MAFLD patients than in healthy controls and patients with CHB alone or overlapping with MAFLD (24.4 ± 8.1 vs. 29.0 ± 9.5 vs. 27.4 ± 9.6 vs. 26.8 ± 8.4 ng/mL respectively; p < 0.001 in one-way ANOVA test). After adjusting for confounding factors, including season, hypersensitive C-reactive protein, insulin resistance, liver stiffness measurements, sun exposure, exercise and dietary intake, multivariate linear regression analysis revealed that VitD remained significantly negatively correlated with LFC in MAFLD patients (β = −0.38, p < 0.001), but not in CHB with MAFLD patients. Moreover, quantile regression models also demonstrated that lower VitD tertiles were inversely associated with the risk of insulin resistance and moderate–severe steatosis in the MAFLD group (p for trend <0.05) but not in the MAFLD with CHB group. VitD deficiency was associated with the severity of metabolic abnormalities and steatosis independent of lifestyle factors in MAFLD-alone subjects but not in MAFLD with CHB subjects.