GATA3基因变异导致甲状旁腺功能减退症患者的临床特征和分子机制

目的分析GATA3基因变异导致甲状旁腺功能减退症(hypoparathyroidism, HP)患者的临床特点及分子机制。方法在1975年至2020年间于北京协和医院内分泌科随诊并行靶向基因捕获联合二代测序的198例未成年人(≤18岁)起病的非手术性HP患者中筛查到5例GATA3基因致病/可疑致病性变异, 回顾性收集分析其临床资料, 并对基因检测结果进行生物信息学分析。结果 5例患者HP的起病年龄为0.5(0.1, 1.3)岁, 发病至诊断为HP和甲状旁腺功能减退-耳聋-肾发育不良(hypoparathyroidism-deafness-renal dysplasia, HDR)综合征的时间分别为(7.0±5.2)年和(15.0±5.4)年。临床表现为手足搐搦伴癫痫样发作、颅内钙化各5例, 白内障1例, 听力减退4例, 肾脏畸形或缺如2例。治疗前血钙和血甲状旁腺激素(PTH)分别为(1.65±0.31)mmol/L和(4.64±2.63)ng/L。5例患者GATA3基因的杂合变异, 分别引起无义突变、移码突变和剪接位点突变, 经Clin Var数据库预测及美国医学遗传学和基因组学学会(...     

Myositis-specific autoantibodies and their clinical associations in idiopathic inflammatory myopathies: results from a cohort from China

Clinical Rheumatology - The purpose of this study was to determine the incidence of myositis-specific autoantibodies (MSAs) in a cohort of Chinese patients with idiopathic inflammatory myopathies...     

Standardized nursing and clinical efficacy of OxyContin in reducing oral mucosal pain in patients with nasopharyngeal carcinoma: A randomized,double-blind,placebo-controlled study protocol

Background:Pain caused by oral mucositis (OM) is the main problem in the process of concurrent chemoradiotherapy for the nasopharyngeal carcinoma (NPC). This protocol aims to explore the standardized nursing and therapeutic effect of OxyContin on OM pain in the patients with NPC undergoing the concurrent chemoradiotherapy.Methods:The experiment is a randomized clinical research, which was granted through the Research Ethics Committee of Shandong Provincial Third Hospital (No.20200802097). In this research, 90 NPC patients with OM induced by chemotherapy are enrolled, and the score of visual analogue >5 and the grade of OM >1 are evaluated. Patients with known allergy to OxyContin, the opioid abuse history, or major organ dysfunction, for instance, hepatic insufficiency, renal failure, and respiratory and heart failure, as well as a series of severe mental illness are excluded from our research. Patients in study groups receive standardized nursing and oral OxyContin. Patients in control groups only receive oral OxyContin. The analgesic effect could be assessed with the comparison of the visual analogue scale after and before the treatment. Safety evaluations contain the assessment of the vital signs, laboratory tests, as well as adverse events. The Karnofsky performance status standards of the International Cancer Control Union is utilized to evaluate the quality of life.Results:The comparison of outcomes after taking OxyContin in both groups will be shown in Table ​Table1Table1 .Table 1The comparison of outcomes after taking OxyContin in both groups.

Deciphering principles of morphogenesis from temporal and spatial patterns on the integument

Background : How tissue patterns form in development and regeneration is a fundamental issue remaining to be fully understood. The integument often forms repetitive units in space (periodic patterning) and time (cyclic renewal), such as feathers and hairs. Integument patterns are visible and experimentally manipulatable, helping us reveal pattern formative processes. Variability is seen in regional phenotypic specificities and temporal cycling at different physiological stages. Results: Here we show some cellular/molecular bases revealed by analyzing integument patterns. (1) Localized cellular activity (proliferation, rearrangement, apoptosis, differentiation) transforms prototypic organ primordia into specific shapes. Combinatorial positioning of different localized activity zones generates diverse and complex organ forms. (2) Competitive equilibrium between activators and inhibitors regulates stem cells through cyclic quiescence and activation. Conclusions: Dynamic interactions between stem cells and their adjacent niche regulate regenerative behavior, modulated by multi‐layers of macro‐environmental factors (dermis, body hormone status, and external environment). Genomics studies may reveal how positional information of localized cellular activity is stored. In vivo skin imaging and lineage tracing unveils new insights into stem cell plasticity. Principles of self‐assembly obtained from the integumentary organ model can be applied to help restore damaged patterns during regenerative wound healing and for tissue engineering to rebuild tissues. Developmental Dynamics 244:905–920, 2015. © 2015 Wiley Periodicals, Inc.     

A synthesis and performance evaluation of a highly efficient ecological dust depressor based on the sodium lignosulfonate–acrylic acid graft copolymer

In this paper, a highly efficient and environmentally-friendly dust depressor was developed based on the sodium lignosulfonate–acrylic acid graft copolymer. Using the grafting ratio as an index, a three-factor and four-level orthogonal experiment was conducted to optimize the fabrication conditions of the graft copolymer. At a reaction temperature of 60 °C, feed ratio m_SLS–AA of 1 : 3, and FeSO₄·7H₂O content of 2.5%, the prototype produced the highest grafting ratio. The microstructure of the graft copolymer was measured using Fourier transform infrared spectrometry (FTIR) and nuclear magnetic resonance (¹H-NMR). Furthermore, the influence of glycerol and the JFC penetrant on the contact angle between the compound solution and coal powder was investigated. Finally, four formulas of dust depressor were selected based on the experimental results. The dust-control performance of the four dust depressors was then tested on a large-scale spray dust suppression simulation platform. The results show that after applying formula 1 at various distances from the spray field, the average dust reduction rates of the total dust (respirable dust) at each point increased. Compared to the water-spraying dust suppression technique, the dust concentration is significantly reduced after the graft copolymer dust depressor is applied.

In this paper, a highly efficient and environmentally-friendly dust depressor was developed based on the sodium lignosulfonate–acrylic acid graft copolymer.     

支气管镜在儿童反复咳喘性疾病中的诊断价值

目的探讨电子支气管镜检查术在儿童反复咳喘性疾病中的应用价值。方法对该院2015年3月-2017年11月收治的297例反复咳嗽、喘息的患儿行支气管镜检查及治疗的临床资料进行综合分析。结果 297例反复咳喘的患儿支气管镜检查镜下表现最常见的是支气管内膜炎,共193例,占65.0%,是反复咳喘患儿最常见的表现;气管、支气管软化的患儿23例,占7.7%;喉软化者18例,占6.1%;气管、支气管狭窄者13例,占4.4%;异物者7例,占2.4%;结构异常者17例,占5.8%;肺含铁血黄素沉着症2例,占0.7%;肿瘤2例,占0.7%;左主支气管未发育1例,占0.3%;支气管憩室1例,占0.3%;支气管镜下未见明显异常者20例,占6.7%。结论对于儿童反复咳喘性疾病,支气管镜检查能够明确病因并且指导治疗,在临床上应用价值较高。     

河南省2008－2013年男男性行为人群艾滋病流行趋势分析

目的 分析河南省MSM人群HIV感染流行趋势,为河南省艾滋病防治政策与策略制定提供科学依据。方法 分析2008-2013年艾滋病病例报告系统中同性性传播HIV/AIDS病例的变化趋势,利用MSM人群艾滋病综合防治专项调查数据分析该人群HIV感染率及危险行为变化。结果 2008-2013年河南省同性性传播病例构成从1.3%上升到17.1%,呈现快速增长趋势;专项调查数据显示,MSM人群HIV感染率呈现快速上升趋势,从2008年的4.69%增至2013年的8.33%(趋势χ²=39.24,P<0.001).单因素分析结果显示,年龄(χ²=21.03,P<0.001)、文化程度(χ²=31.66,P<0.001)、职业(χ²=14.59,P=0.01)、最近1次肛交行为安全套使用情况(χ²=134.97,P<0.001)、最近6个月同性性行为安全套使用情况(χ²=97.15,P<0.001)、最近1年性病症状(χ²=67.21,P<0.001)以及梅毒感染(χ²=163.60,P<0.001)均为感染HIV的影响因素。多因素分析结果显示,年龄、性病症状史、感染梅毒与艾滋病防治知识不知晓为感染HIV的危险因素。结论 河南省MSM人群中HIV感染呈不断上升趋势,男男同性性传播已经成为主要感染途径,该人群不安全性行为普遍存在,亟需采取有效措施控制HIV在该人群中的传播。     

武汉市330 例HIV感染者及艾滋病患者治疗的社会支持现状及影响因素研究

目的 了解武汉市进行抗病毒治疗(ART)的HIV感染者及艾滋病患者(HIV/AIDS) 社会支持现状,并探讨其影响因素。方法 应用社会支持评定量表(SSRS)评价武汉市330例进行ART的HIV/AIDS社会支持现状;采用t检验、方差分析和多元线性回归模型分析社会支持的影响因素。结果 HIV/AIDS主观支持、客观支持、对社会支持利用度以及社会支持总体得分均低于中国常模(P<0.05)。多元线性回归分析显示,未婚/离异/丧偶者客观支持(β''=-0.260)、主观支持(β''=-0.196)、社会支持总体(β''=-0.141)得分低于已婚者(P<0.05);文化程度较高者客观支持(β''=0.250)、对支持利用度(β''=0.232)得分高于文化程度低者(P<0.05);近两周没有AIDS相关症状者主观支持得分高于有相关症状者(β''=0.232,P<0.05)。结论 武汉市进行ART的HIV/AIDS社会支持状况低于正常人群,应关注未婚/离异/丧偶者、文化程度较低者和伴有HIV相关症状者,提高其社会支持水平。     

多媒体技术在羽毛球教学中的应用研究

运用文献资料法、数理统计法和对比实验法等研究方法,对多媒体技术在高校羽毛球课堂教学中的应用研究,探讨多媒体技术对促进教学效果和提高学习效率中的作用与意义。结果表明:多媒体技术的运用符合高校羽毛球教学目标,并能够充分调动学生的积极性,更快建立完整、正确的技术动作表象,更好掌握技术要领,提高羽毛球教学效果,促进高校体育教师教学观念的转变和教学手段的现代化,适应现代教育的发展。     

Erythromycin versus metoclopramide for post-pyloric spiral nasoenteric tube placement: a randomized non-inferiority trial

Purpose

To determine whether erythromycin is non-inferior to metoclopramide in facilitating post-pyloric placement of self-propelled spiral nasoenteric tubes (NETs) in critically ill patients.

Methods

A prospective, multicenter, open-label, parallel, and non-inferiority randomized controlled trial was conducted comparing erythromycin with metoclopramide in facilitating post-pyloric placement of spiral NETs in critically ill patients admitted to intensive care units (ICUs) of eight tertiary hospitals in China. The primary outcome was procedure success defined as post-pyloric placement (spiral NETs reached the first portion of the duodenum or beyond confirmed by abdominal radiography 24 h after tube insertion).

Results

A total of 5688 patients were admitted to the ICUs. Of these, in 355 patients there was a plan to insert a nasoenteric feeding tube, of whom 332 were randomized, with 167 patients assigned to the erythromycin group and 165 patients assigned to the metoclopramide group. The success rate of post-pyloric placement was 57.5% (96/167) in the erythromycin group, as compared with 50.3% (83/165) in the metoclopramide group (a difference of 7.2%, 95% CI ??3.5% to 17.9%), in the intention-to-treat analysis, not including the prespecified margin of ??10% for non-inferiority. The success rates of post-D1 (reaching the second portion of the duodenum or beyond), post-D2 (reaching the third portion of the duodenum or beyond), post-D3 (reaching the fourth portion of the duodenum or beyond), and proximal jejunum placement and the incidence of any adverse events were not significantly different between the groups.

Conclusions

Erythromycin is non-inferior to metoclopramide in facilitating post-pyloric placement of spiral NETs in critically ill patients. The success rates of post-D1, post-D2, post-D3, and proximal jejunum placement were not significantly different.