Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.     

Timing of human chorionic gonadotropin (hCG) hormone administration in IVF/ICSI protocols using GnRH agonist or antagonists: a systematic review and meta-analysis

Objective: To evaluate the effect of altering the timing of human chorionic gonadotropin (hCG) administration on the clinical outcome of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) using gonadotropic hormone releasing hormone (GnRH) agonist or antagonist.

Methods: We systematically searched six databases. Randomized controlled trials (RCTs) of the effects of altering the timing of hCG administration on the clinical outcome of IVF and ICSI using GnRH agonist or antagonist were included. A meta-analysis was conducted following a quality evaluation performed with Cochrane Collaboration’s Review Manager (RevMan) 5.0.2.

Results: Seven RCTs and a total of 1295 participants were included. Significant difference was observed regarding estradiol and progesterone levels on the day of hCG administration and oocyte retrieval between early hCG and late hCG administration group and in favor of the latter. The fertilization rate was not statistically different between early and 24-h late hCG groups, but it is significantly higher in the 48-h late hCG group. The pooled results showed no significant differences in the ongoing pregnancy rate per oocyte pick-up, the miscarriage rate and the live birth rate.

Conclusion: The prolongation of follicular phase by delaying hCG administration could increase estradiol, progesterone levels and oocyte retrieval, which will not influence ongoing pregnancy rate per oocyte pick-up, miscarriage rate and live birth rate. Postponing hCG may enable increased flexibility of cycle scheduling to avoid weekend procedures.     

山东省18家新生儿疾病筛查中心实验室TSH和17α-OHP项目室内质控数据室间比对分析

目的 应用新生儿疾病筛查数据分析与质量控制管理平台对山东省18家新生儿疾病筛查中心实验室的两项室内质控数据17羟孕酮(17α-hydroxyprogesterone,17α-OHP)和促甲状腺素(thyroid-stimulating hormone,TSH)进行室间比对分析。方法 17α-OHP和TSH的实验室检测方法为时间分辨免疫荧光法,并通过荧光分析仪计算出质控数据,质控数据由各实验室定期上传至山东省新生儿筛查数据分析与质量控制管理平台,最终应用此平台采集全省18家参评实验室的室内质控数据并进行分析。结果 17α-OHP低值质控测定数与变异系数(CV)、标准差指数(SDI)、变异系数指数(CVI)和总误差(TE)合格率分别为6 536,15.38%,100%,46.15%和100%; 相应高值质控分别为6 580,61.54%,100%,61.54%和100%。相应TSH低值质控测定数与CV,SDI,CVI和TE合格率分别为4 964,90.91%,90.91%,72.73%和100%; 相应高值质控分别为4 967,90.91%,100%,90.91%和100%。结论 通过对山东省18家新生儿疾病筛查实验室17α-OHP和TSH两项室内质控数据室间比对分析,可帮助各新生儿疾病筛查中心管理室内质控、统计分析数据、评价实验室的精密度和准确度,掌握各新生儿疾病筛查实验室质量控制现状,提高筛查质量。     

尿清蛋白检测性能评价及尿清蛋白/肌酐比值联合肾小球滤过率对2型糖尿病患者肾损伤的诊断价值

目的评价免疫透射比浊法检测尿清蛋白(Alb)的性能,探讨尿Alb/肌酐(Cr)比值(ACR)联合估算肾小球滤过率(e GFR)在2型糖尿病(T2DM)患者肾损伤评价中的诊断价值。方法对免疫透射比浊法检测尿Alb的精密度、正确度、分析测量范围(AMR)、检测限、参考区间进行验证,并分析其与免疫散射比浊法的相关性和偏差。选取220例T2DM住院患者,检测尿Alb、尿Cr、血Cr,计算ACR和e GFR并进行分析。结果尿Alb在11.11~298.76 mg/L范围内批内、批间不精密度均小于厂家声明的标准。正确度验证显示两种诊断系统尿Alb校准品测定结果符合验证要求;CAP室间质评物(U-A、U-B)、校准验证/线性评价物(LN20-B)结果符合CAP校准验证/线性评价误差界限所规定的标准,相对偏倚小于基于生物学变异设定质量规范中的适当允许偏倚(<16.4%)。AMR验证显示尿Alb在5.08~347.93 mg/L范围内线性良好。方法学比对显示透射比浊法与散射比浊法检测尿Alb结果相关性较好,平均绝对偏差为8.6 mg/L,平均相对偏差为14.52%,在医学决定水平处的预期偏差在可接受范围内。220例T2DM患者按照正常Alb、微量Alb、大量Alb尿分组,分别有10.9%、45.7%、66.7%的患者e GFR<60m L·min-1·1.73 m-2;在e GFR≥90 m L·min-1·1.73 m-2的患者中,15.7%有微量Alb尿,7.1%有大量Alb尿。结论免疫透射比浊法检测尿Alb的各项性能指标基本满足实验室要求,联合应用ACR和e GFR有助于评估T2DM患者肾脏损伤状况。     

A highly sensitive 1-tube nested real-time RT-PCR assay using LNA-modified primers for detection of respiratory syncytial virus

Respiratory syncytial virus (RSV) causes serious respiratory tract infection worldwide. The relatively low RSV load makes it difficult to detect in frail, elderly, and severely immune-compromised patients. In the present study, we developed a locked nucleic acid–-based 1-tube nested real-time RT-PCR (OTNRT-PCR) assay with the advantages of extremely high sensitivity, facile operability, and less likelihood of cross-contamination. The sensitivity, specificity, and clinical performance of the OTNRT-PCR assay were compared in parallel with a conventional TaqMan probe-based real-time PCR (qRT-PCR) assay and a traditional 2-step nested RT-PCR assay. The limit of detection of the OTNRT-PCR assay was 1.02?×?10^?1 TCID50/mL, equivalent to the traditional 2-step nested RT-PCR assay and 25-fold lower than the qRT-PCR assay. Of 616 nasopharyngeal aspirates tested, 143 RSV-negative samples by qRT-PCR were confirmed as positive by sequencing the OTNRT-PCR products. We therefore conclude that OTNRT-PCR is more sensitive than qRT-PCR for detection of RSV in clinical samples.     

左氧氟沙星750mg注射液5日短程疗法治疗社区获得性肺炎的多中心临床研究

目的：比较左氧氟沙星750 mg注射液5 d短程疗法与500 mg注射液7-14 d常规疗法治疗社区获得性肺炎（CAP）疗效和安全性差异。方法本临床试验为随机对照、开放、非劣效性多中心临床试验。CAP患者被随机分配到左氧氟沙星750 mg组治疗5 d或500 mg组治疗7-14 d ,两组均接受静脉给药治疗,观察其临床表现、实验室检查、影像学改变及微生物学检查等,比较两组安全性和疗效差异。结果10个研究中心共入选病例241例。其中全分析集（FAS ）223例,包括750 mg组111例,500 mg组112例。符合方案分析集（PPS）211例,包括750 mg组107例,500 mg组104例。安全性分析集（SS）241例,包括750 mg组121例,500 mg组120例。FAS 750 mg组疗程中位数为5．0 d ,500 mg组疗程中位数为9．0 d。750 mg组总剂量中位数为3750 mg ,500 mg组总剂量中位数为4500 mg。FAS第4次随访750 mg组有效率为86．2％,500 mg组有效率为84．7％,两组综合疗效评价相比为非劣效。FAS 750 mg组可进行微生物疗效评价者共40例,获病原菌41株,500 mg组可行微生物疗效评价者共49例,获病原菌51株,两组细菌清除率均为100％。另外,750 mg组和500 mg组的非典型病原体的临床有效率均为100％。对750 mg组安全性观察结果显示,临床不良反应最常见为注射部位瘙痒、疼痛和充血等,其次为失眠、恶心、皮疹等。较常见的实验室指标异常为中性粒细胞比率降低、白细胞总数降低、ALT升高、AST升高等。以上不良反应多属轻微,患者可耐受,与500 mg组相比,因药物中止试验和不良反应发生率差异无统计学意义,提示两组安全性相仿。结论左氧氟沙星750 mg注射液5 d短程疗法治疗CAP与左氧氟沙星500 mg注射液7-14 d常规疗程相比,其临床和微生物疗效相仿,不良反应发生率相仿,均较轻微,患者耐受性好。     

Social support,stigma, and the mediating roles of depression on self-reported medication adherence of HAART recipients in China

Discrimination of people living with HIV/AIDS (PLWHA) is a persistent issue in China, which affects their psychological health. However, the association between psychological factors and adherence to highly active antiretroviral therapy (HAART) has not been systematically investigated before. Therefore, this study examined the impact of social support, depression, and medication-taking self-efficacy on ART adherence among PLWHA based on Cha et al.’s model, and included “stigma” to the original model to explain the psychological mechanism. Of the 504 participants receiving HAART, 37.8% had mild-to-severe depression. According to structural equation modeling, social support was directly associated with depression, stigma, and adherence; depression partially mediated the positive relationship between social support and adherence self-efficacy and the negative association between stigma and self-efficacy. The modified and extended Cha et al.’s model had a satisfactory fit. Interventions to improve mental health through mental health services, social support, and enhancement of adherence self-efficacy beliefs are required.     

Pituitary adenomas in patients with multiple endocrine neoplasia type 1: a single-center experience in China

Purpose

To explore the clinical characteristics of pituitary adenomas in patients with MEN1 and to summarize treatment strategies for MEN1 in a Chinese population.

Methods

We retrospectively analyzed 54 MEN1 patients with pituitary adenomas diagnosed at Peking Union Medical College Hospital from March 2003 to January 2017. Clinical data, laboratory testing results, treatments of involved glands and treatment responses were collected and analyzed.

Results

The mean age at pituitary adenoma diagnosis was 53.9?±?17.8. The patients initially consulted the Endocrinology, General Surgery and Neurosurgery departments, in descending frequency. The nonfunctioning adenoma, prolactinoma, GH-secreting adenoma, cosecreting adenoma, and ACTH-secreting adenoma subtypes accounted for 48.1%, 27.8%, 9.3%, 9.3% and 5.6% of the cases, respectively. The remission rate for prolactinomas was 46.2% (6/13) treated with bromocriptine. And the remission rates were 87.5% (7/8) and 100% (3/3) for GH-secreting adenomas and ACTH-secreting adenomas respectively achieved by transsphenoidal surgery. Nineteen (35.2%) patients with asymptomatic nonfunctioning pituitary adenomas showed no progression after a 35-month follow-up with close observation. Regarding treatment priority, patients with thymic carcinoid tumors received first-line surgery, 54% of the patients with enteropancreatic tumors had these tumors treated first, and 26% of all patients had their pituitary adenomas treated first. In acromegalic patients, pituitary lesions tended to be treated first (75%, p?=?0.002). PHPT and adrenocortical adenomas can be managed with elective surgery.

Conclusions

The treatment of MEN1 requires cooperation between multidisciplinary teams. Individualized treatment according to the severity of glandular involvement is needed. GH-secreting and ACTH-secreting pituitary adenomas require active treatment, while nonfunctioning pituitary adenomas can be observed closely.