2010—2020年北京市房山区梅毒防治效果分析

目的了解北京市房山区梅毒规划(2010—2020年)实施期间梅毒防治效果和各考核指标达标情况,为下一步制定有效的梅毒防治策略提供科学依据。方法根据《中国预防与控制梅毒规划(2010—2020年)》(以下简称《梅控规划》)终期评估的要求,通过专网、现场调查、APP答题等方式对涉及的16个指标进行收集,并将16个指标划分为梅毒防治保障措施的落实、防治工作开展和防治效果3个层面进行评估,同时将评估结果与终期评估标准进行比较。采用SPSS 18.0软件进行描述性统计分析。结果2010—2020年北京市房山区共报告梅毒病例3260例,年均报告发病率27.99/10万,年均增长0.08%,男女比例基本持平,以25岁年龄组病例数最多,历年病例均以隐性梅毒为主。保障措施与能力建设方面均达标;防治工作方面:感染梅毒的孕产妇所生婴幼儿接受规范诊疗服务的比例为50.00%,梅毒患者接受规范化治疗的比例86.11%,两指标未达标,其余均达标;防治效果中一期和二期梅毒年报告发病率增长幅度为3.80%,未达标,先天梅毒年报告发病率为9.25/10万活产数达到了《梅控规划》的工作要求。结论2010—2020年北京市房山区梅毒防治工作取得了一定成效,但部分指标仍未达标,应继续加强梅毒防治工作,尤其是需提高规范化诊疗的比例同时控制新发梅毒发病率。     

Seroprevalence and trends of transfusion transmissible infections among retrospective blood donors in Western Azerbaijan Regional Blood Transfusion Center,Iran: A ten-years evaluation

Transfusion transmissible infections (TTIs) have been a public health challenge for the accessibility, quality and safety of blood transfusion. The present study aimed to consider the prevalence and the trends of hepatitis B virus (HBV), hepatitis C virus (HCV), Human T-cell leukemia virus type 1 (HTLV-1), human immunodeficiency virus (HIV) and syphilis across the ten years among retrospective blood donors. A retrospective investigation of blood donors’ data covering the period from 22 May 2009 to 22 May 2019 was done. Data was accumulated and analyzed from Blood Transfusion Center records, pertaining to all donors who were screened for various TTIs using respective immunological techniques. Out of the 682,171 screened donors in the 2009–2019 study period, 2470 (0.36 %) were infected with at least one infectious agent. The overall prevalence of HBV, HCV, HTLV-1, HIV and syphilis were 1700 (0.25 %), 184 (0.027 %), 335 (0.05 %), 4 (0.0.05 %) and 247 (0.036 %), respectively. The study showed male dominated donor pool (96.79 %) with higher prevalence (0.34 %) of TTIs compared to female donors (0.02 %) with 3.21 % population. Despite the low prevalence of TTIs in our study, HBV, HCV, syphilis and HIV have remained a big threat to safe blood transfusion in Iran. Strict adherence to selection criteria, algorithm of donor screening, use of highly sensitive and specific methods for detection of TTIs, regular consultation and health education programs, prevention and sanitization strategies to reduce the risk of TTIs are recommended to reduce the risk of TTIs and ensure the safety of blood transfusion for recipient.     

腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果研究

目的研究腹腔镜经脐单一部位幽门环肌切开术治疗小儿先天性肥厚性幽门狭窄的临床效果。方法100例小儿先天性肥厚性幽门狭窄患儿作为研究对象,按照随机方式分为观察组和对照组,每组50例。对照组采用腹腔镜幽门环肌切开术治疗,观察组采用腹腔镜经脐单一部位幽门环肌切开术治疗。观察记录患儿的手术结果及随访结果,并比较两组患儿手术时间、术后住院时间。结果手术过程顺利,100例患儿均成功完成手术,无一例中转开腹手术,无并发症发生。观察组患儿术后6 h将胃管取下,少量喂入温水后逐渐过渡到喂糖水、喂奶;对照组患儿术后24 h开始逐渐进食。患儿术后进行6个月的延续性随访,观察组患儿切口恢复美观,已经无法观察到切口瘢痕,两组患儿的生长发育均显示正常状态。观察组患儿手术时间(21.23±1.65)min及术后住院时间(5.58±1.98)d均显著短于对照组的(38.44±1.23)min、(9.67±1.22)d,差异具有统计学意义(P<0.05)。结论先天性肥厚性幽门狭窄患儿采用腹腔镜经脐单一部位幽门环肌切开术治疗,手术效果良好,手术创伤小而且安全。     

A novel PAX6 mutation causes congenital aniridia with or without retinal detachment

Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.

Methods: Complete ophthalmic examinations were performed for available affected family members. All PAX6 exons and their flanking regions were sequenced for affected individuals. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Bioinformatics prediction was done to evaluate the deleterious effects of the mutation on protein product. Real-time PCR was used to investigate the impact of the variant on PAX6 mRNA expression.

Results: All patients were diagnosed with isolated aniridia associated with variable phenotypic features including retinal detachment. A novel heterozygous deletion c.320_348delTGTCCGAGGGGGTCTGTACCAACGATAAC (p.Leu107HisfsX16) on PAX6 gene was detected. Decreased mRNA level of PAX6 in the affected individuals indicated that the mutation caused nonsense-mediated mRNA decay (NMD).

Conclusions: To the best of our knowledge, it is the first report on the genetics of aniridia in Iran. Segregation analysis, bioinformatics prediction and confirmation of NMD, all support the proposition that the novel observed PAX6 mutation is the cause of aniridia in the pedigree. Retinal detachment in some of the affected members, which is a rare reported phenotypic feature of aniridia patients, may be associated with this mutation.     

利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

Enteric anendocrinosis attributable to a novel Neurogenin-3 variant

Congenital diarrhea and enteropathies (CODEs) are a group of monogenic disorders that often present with severe diarrhea in the first weeks of life. Enteric anendocrinosis (EA), an extremely rare cause of CODE, is characterized by a marked reduction of intestinal enteroendocrine cells (EC). EA is associated with recessively inherited variants in Neurogenin-3 (NEUROG3) gene. Here we investigate a case of a male infant who presented with mysterious severe malabsorptive diarrhea since birth. Thorough clinical assessments and laboratory tests were successful to exclude the majority of differential diagnosis categories. However, the patient's diagnosis was not established until the genetic test using whole-exome sequencing (WES) was performed. We identified a novel homozygous missense disease-causing variant (DCV) in NEUROG3 (c.413C>G, p.Thr138Arg). Moreover, molecular dynamic simulation analysis showed that (p.Thr138Arg) led to a global change of the NEUROG3 orientation affecting its DNA binding capacity. To the best of our knowledge, this is the first time to apply WES to reach a differential diagnosis of patients with CODEs. Our study not only expands our knowledge about NEUROG3 variants and their clinical consequences but also proves that WES is a very effective tool for the diagnosis of CODEs. This might be of value in early diagnosis of diseases and prenatal CODEs detection.