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。     

Contribution of transcranial magnetic stimulation in restless legs syndrome: pathophysiological insights and therapeutical approaches

Transcranial magnetic stimulation (TMS) may offer a reliable means to characterize significant pathophysiologic and neurochemical aspects of restless legs syndrome (RLS). Namely, TMS has revealed specific patterns of changes in cortical excitability and plasticity, in particular dysfunctional inhibitory mechanisms and sensorimotor integration, which are thought to be part of the pathophysiological mechanisms of RLS rather than reflect a non-specific consequence of sleep architecture alteration.If delivered repetitively, TMS is able to transiently modulate the neural activity of the stimulated and connected areas. Some studies have begun to therapeutically use repetitive TMS (rTMS) to improve sensory and motor disturbances in RLS. High-frequency rTMS applied over the primary motor cortex or the supplementary motor cortex, as well as low-frequency rTMS over the primary somatosensory cortex, seem to have transient beneficial effects. However, further studies with larger patient samples, repeated sessions, an optimized rTMS setup, and clinical follow-up are needed in order to corroborate preliminary results.Thus, we performed a systematic search of all the studies that have used TMS and rTMS techniques in patients with RLS.     

Preparing IR for COVID-19: The Singapore Experience

This paper describes country-wide special measures undertaken for interventional radiology staff during the current coronavirus disease 2019 (COVID-19) pandemic. Although each interventional radiology service around the world faces unique challenges, the principles outlined in this article will be useful when designing or strengthening individual practices and integrating them within wider hospital and national measures. Moving beyond the current outbreak, these measures will be useful for any future infectious diseases which are likely to arise.     

Total bilirubin independently predicts incident metabolic syndrome among community-dwelling women

BackgroundMetabolic syndrome (MetS) is related to the increased risk of major cardiovascular diseases (CVD). The link between high serum total bilirubin (TBL) is cross-sectionally related to MetS and its components. However, whether serum TBL predicts incidence of MetS and its components remains inconclusive.MethodsThe present study included 893 women aged 70 ± 9 years from a rural village. We examined the relationship between serum TBL and MetS based on the modified criteria of the National Cholesterol Education Program's Adult Treatment Panel (NCEP-ATP) III report in a cross-sectional (N = 893) and cohort (N = 288) data.ResultsIn the cross-sectional study, serum TBL (β = 0.536, p < 0.001) as well as age, alcohol consumption, exercise habits, history of CVD, SUA, GGT, and ALT was significantly and dependently associated with number of MetS components, but in the cohort study serum TBL was not associated with number of MetS components. Compared with the 1st tertile of serum TBL (0.20–0.55 mg/dL), multivariate-adjusted odds ratio (95% confidence interval) for the 2nd -3rd tertiles of serum TBL (0.54–2.00 mg/dL) was 0.70 (0.51–0.95) in the cross-sectional study and 0.41 (0.21–0.81) in the cohort study.ConclusionsOur data demonstrated an independently negative association between serum TBL and MetS in Japanese community-dwelling women.     

多囊卵巢综合征妊娠患者与非多囊卵巢综合征孕妇妊娠结局比较

目的比较多囊卵巢综合征(PCOS)妊娠患者与非PCOS孕妇的妊娠结局。方法选取200例PCOS妊娠患者作为研究组,并选取同期200例非PCOS孕妇作为对照组,比较两组孕妇的妊娠结局、新生儿情况及妊娠期并发症情况。结果研究组的先兆流产、早产、足月剖宫产发生率显著高于对照组(P <0.05);两组的先兆早产发生率比较无统计学差异(P>0.05)。两组的新生儿情况比较无统计学差异(P>0.05)。研究组的妊娠期高血压综合征、妊娠期糖尿病、羊水异常、胎儿窘迫发生率显著高于对照组(P <0.05)。结论与非PCOS孕妇相比,PCOS妊娠患者的早产风险增加,且妊娠期高血压综合征、妊娠期糖尿病、羊水异常、胎儿窘迫发生率显著升高。     

乙肝孕妇血清标志物模式与HBV-DNA载量及肝功能关系研究

目的探讨乙肝孕妇血清标志物模式、HBV-DNA载量及肝功能三者之间的关系,为孕期乙肝病毒感染情况的监控和乙肝病毒母婴传播的预防提供参考。方法选取2019年1月-11月在我院产检的767例乙肝表面抗原阳性孕妇的乙肝血清标志物模式、肝功能指标的丙氨酸氨基转移酶(alamine aminotransferase,ALT)及HBVDNA载量进行研究,探讨三者间的关系。结果HBsAg、HBeAg、HBcAb阳性组孕妇HBV-DNA阳性率及病毒载量均高于其余两组(P<0.05);ALT升高程度与HBV-DNA载量具有一定相关性(r=0.255,χ^2=80.150,P=0.000);HBeAg阳性组和HBeAg阴性组间HBV-DNA阳性率、ALT异常率差异均有统计学意义。结论HBV-M、HBV-DNA与肝功能之间有一定的相关性,大三阳孕妇中高病毒载量比例高,应加强乙肝孕妇孕期各项指标的监测,必要时进行干预治疗。