A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

 Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inheritance with bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment, the putative disease gene locus was localized to chromosome 5q31.1-32 by a genome-wide scan. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum two-point logarithm of differences (LOD) score of 6.89 (θ = 0) at D5S2017. By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed. No mutation was found, suggesting that this is a novel deafness locus, which has been named DFNA42. Received: May 8, 2002 / Accepted: October 1, 2002     

Forensic characteristics and phylogenetic analysis of 23 Y-STR loci in the Miao population from Guizhou province,southwest China

Background: Investigation of haplotype/allele frequency data of Y-STR loci in ethnically diverse populations is essential for forensic reference database construction and genetic application. However, the population genetic characteristics of the Chinese Miao minority from Guizhou Province remain uncharacterised.

Aim: To assess forensic characteristics for 23 Y-Chromosomal STR loci in Guizhou Miao and explore population genetic relationships with geographically neighbouring populations.

Subjects and methods: Twenty-three Y-Chromosomal STRs were genotyped using the Powerplex^® Y23 system in 103 unrelated Chinese Miao males from Guizhou Province, southwest China. Haplotypes and forensic parameters were obtained. Population relationships of Guizhou Miao with others were revealed using AMOVA and an MDS plot.

Results: A total of 96 haplotypes were identified with overall haplotype diversity (HD) and discrimination capacity (DC) of 0.9985 and 0.9320, respectively. Genetic differentiation was observed with most of the comparison populations, prominently for Guizhou Shui.

Conclusion: The 23 Y-STR loci were highly polymorphic and discriminating in the Guizhou Miao population and could be used for forensic practice and population genetic studies. Population relationship analysis revealed Guizhou Miao had a close genetic relationship with geographically close Guizhou Gelao, as well as Han majorities derived from different regions.     

Impact of Dissection after Drug-Coated Balloon Treatment of De Novo Coronary Lesions: Angiographic and Clinical Outcomes

PurposeDissection after plain balloon angioplasty is required to achieve adequate luminal area; however, it is associated with a high risk of vascular events. This study aimed to examine the relationship between non-flow limiting coronary dissections and subsequent lumen loss and long-term clinical outcomes following successful drug-coated balloon (DCB) treatment of de novo coronary lesions.Materials and MethodsA total of 227 patients with good distal flow (Thrombolysis in Myocardial Infarction flow grade 3) following DCB treatment were retrospectively enrolled and stratified according to the presence or absence of a non-flow limiting dissection. The primary endpoint was late lumen loss (LLL) at 6-month angiography, and the secondary endpoint was target vessel failure (TVF, a composite of cardiac death, target vessel myocardial infarction, target vessel revascularization, and target vessel thrombosis).ResultsThe cohort consisted of 95 patients with and 132 patients without a dissection. There were no between-group differences in LLL (90.8%) returning for angiography at 6 months (0.05±0.19 mm in non-dissection and 0.05±0.30 mm in dissection group, p=0.886) or in TVF (6.8% in non-dissection and 8.4% in dissection group, p=0.799) at a median follow-up of 3.4 years. In a multivariate analysis, the presence of dissection and its severity were not associated with LLL or TVF. Almost dissections (93.9%) were completely healed, and there was no newly developed dissection at 6-month angiography.ConclusionThe presence of a dissection following successful DCB treatment of a de novo coronary lesion may not be associated with an increased risk of LLL or TVF (Impact of Drug-coated Balloon Treatment in de Novo Coronary Lesion; {"type":"clinical-trial","attrs":{"text":"NCT04619277","term_id":"NCT04619277"}}NCT04619277).     

U波倒置40例临床分析

U波倒置40例,其中孤立性U倒16例(40％),复合性U倒24例(60％)。U波倒置常见于左心前导联V_5V_6,呈现左室肥厚及负荷加重,心电图示“左室劳损”型。U波倒置严重合并症,除心力衰竭外,还有急性心肌梗塞和室性期前收缩。笔者认为,通过本文分析,UV_5倒置对临床诊断冠心病,高血压等是有价值的。     

Monitoring effects of α-human atrial natriuretic polypeptide (α-hANP) on left ventricular function in patients with essential hypertension with a cardiac probe

The effects of -hANP on left ventricular function were studied with a cardiac probe in ten patients with essential hypertension. Our data showed that intravenous administration of -hANP significantly elevated left ventricular function. At 5 min, the elevation of EF, RCO, ER, RSV, PFR were 13.23% (P<0.02), 12.7 (P<0.02), 0.618 (P<0.02), 0.133 (P<0.05), 0.283 (P<0.01), respectively. At 10 min, the increase of EF, ER, were 11.07% (P<0.02) and 0.233 (P<0.01), respectively. Atriopeptin significantly reduced systolic and diastolic blood pressure from 2 min to 20 min (P<0.001–0.05).Supported by IAEA Grant No. 4062/RI/RB     

催经止孕药Ru-486的临床药代动力学

应用高效液相色谱法(HPLC)研究了抗孕激素药,Ru-486的临床药代动力学。六名志愿受试者,一次口服Ru-486 50毫克后测得该药的药代动力学各项参数,血药半寿期t 1/2 33.0小时,一级消除速率常数Kel 0.021 hr~(-1),血药表观容积Vd 120.1 Liter,体内血药总廓清率Cl2.5 Liter/hr,药-时曲线下面积Auc 19825.1 ng/ml/hr。实验表明,服药后一小时血药浓度迅即达高峰,随后转入消除期,血浆药物浓度在消除相的头4～8小时消除较快,而后逐渐减慢,持续24小时,到48小时血药浓度已较低(0.15±0.07μg/ml)。     

江苏省有钉螺无血吸虫病流行地方的初步调查研究

本文报告经调查证实江苏省存在着不少有钉螺而无血吸虫病流行（有螺无病）地方,共468个大队,分布于9个县的112个公社。这些大队中,属平原型的429个,属山丘型的39个。对这两型有螺无病地方,各取3个大队作流行病学调查研究的结果,说明这6个大队的有螺无病现象已存在23年以上,那里有螺无病存在的主要原因是没有足够数量的传染源输入。本文还就调查研究结果,对血防工作上有关问题作了探讨。     

某国家级死因监测点漏报调查及死因监测质量评价

目的 了解某国家级死因监测点居民死亡漏报情况,评价死因监测信息系统报告的完整性和准确性。 方法 某国家级死因监测点居民死亡信息来源于泸县3个抽样点。采用随机整群抽样的方法,在泸县抽取3个镇(抽样点)共42个村/社,分别从派出所、社事办、妇幼、村(居委会)等渠道收集抽样点2018—2020年全部人口死亡信息,与“人口死因监测信息管理系统”死亡报告数据进行比较,计算漏报率。对“人口死因监测信息管理系统”中抽样点居民死亡报告卡进行审核,评估死因诊断的可靠性和编码质量。 结果 泸县人群总死亡漏报率为9.38%;2018—2020年,漏报率逐渐下降,分别为18.31%、7.53%、2.16%,年度变化百分比为-11.9%,变化趋势差异有统计学意义(t=-5.175,P＜0.001),抽样点死因诊断可靠性和准确性较高,可靠诊断单位占比81.81%,可靠诊断依据占比75.67%,根本死因编码错误率为0.21%。 结论 泸县死因监测数据质量较好,但仍需进一步降低漏报率,提高死因监测数据的完整性和诊断的可靠性。     

孤独症谱系障碍儿童睡眠障碍的评估和干预

睡眠障碍是孤独症谱系障碍(ASD)儿童最常见的共患障碍之一,不仅与ASD儿童核心症状存在显著相关,还会影响患儿的功能水平、生活质量以及干预康复效果,给父母造成巨大养育压力和经济负担。国际上已将睡眠障碍,特别是失眠纳入到ASD的综合诊治之中,但国内相关工作开展滞后,儿科专业人员对ASD儿童睡眠障碍的诊治能力有待提升。 因此,本研究将介绍ASD儿童睡眠障碍的评估和干预方法,为临床和研究工作提供依据。     

2014—2021年石家庄市生活饮用水水质变化趋势分析

目的 对石家庄市2014—2021年生活饮用水常规指标进行监测,分析水质及主要监测指标变化趋势。方法 收集整理2014—2021年石家庄市生活饮用水监测资料,分析生活饮用水合格率、主要监测指标合格率、主要监测指标变化趋势。 结果 2014—2021年石家庄市共监测水样10529份,总合格率为77.15%;地表水合格率（99.08 %）高于地下水（75.96 %）、城市水合格率（85.17 %）高于农村水（75.05%）、枯水期合格率（79.79%）高于丰水期（74.51%）,完全处理水合格率（99.10%）高于仅消毒（86.29%）和未处理（70.70%）（P均<0.05）。2014—2021年石家庄市生活饮用水最低合格率为69.49%,最高合格率为82.28%,总合格率呈上升趋势（P<0.05）。主要指标耐热大肠菌群 、菌落总数、总硬度、硝酸盐、硫酸盐的合格率均呈上升趋势（P<0.05）,菌落总数、硝酸盐、氟化物、总硬度、溶解性总固体、硫酸盐、氯化物的含量均呈下降趋势（P<0.05）。结论 石家庄市2014—2021年生活饮用水水质整体呈现优化趋势,微生物指标仍是影响水质的主要因素。