Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) – the clinical and molecular summary

Multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) is a rare autosomal recessive genetic disease belonging to glycosylphosphatidylinositols biosynthesis defects (GPIBD), a group of recessive disorders characterized by intellectual disability, hypotonia, and seizures. Glycosylphosphatidylinositols (GPIs) are glycolipids that anchor and remodel cell proteins. These processes are highly conserved and fundamental in the metabolism of all eukaryotes, including humans. Here, we have reported a male patient presenting with hypotonia, intellectual disability, and epilepsy, who underwent whole exome sequencing (WES). The analysis revealed the presence of two deleterious variants in PIGN that encodes GPI ethanolamine phosphate transferase-1 – one novel (c.1247_1251delAAGTG; p.Glu416Glyfs*22), and one that has been previously reported in the medical literature (c.1434+5G>A) resulting in MCAHS1. The detailed clinical assessment followed by the medical literature review also pointed out transient macrosomia and unreported in MCAHS1 advanced bone age and postnatal tall stature. These symptoms suggest that MCAHS1 shares a phenotypic overlap with disorders associated with overgrowth. To conclude, our case report and summary of the medical literature may be helpful for clinicians and geneticists who diagnose patients presenting with hypotonia accompanied by tall stature, advanced bone age, and transient macrosomia.     

全球冠心病预测模型准确性的系统评价

目的对各种预测冠心病的模型进行系统回顾,展示其预测效能。方法计算机检索PubMed、EMbase和中国知网。纳入研究冠心病预测模型的文章。检索时限为建库至2020年9月30日。由2名评价员独立按照纳入和排除标准筛选文献,提取建模信息、预测效能等资料。结果共纳入30篇文章,报道了19个经过外部验证的预测模型,17个模型具有受试者工作特征曲线下面积(area under curve,AUC)>0.7的外部验证组。经典的Diamond-Forrester模型、更新的Diamond-Forrester模型、杜克临床评分、冠心病联盟临床评分外部验证组的AUC在0.49~0.87之间。结论大部分模型具有适中的预测效能,经典的冠心病诊断预测模型在各人群中预测效能差异大。     

Ebstein畸形的再次手术策略及中远期结果分析

目的分析Ebstein畸形的再次手术策略及中远期结果。方法回顾性分析阜外医院2002年7月至2017年7月因三尖瓣反流行再次三尖瓣手术的23例Ebstein畸形患者的临床资料(同期手术共421例),其中男9例(39.1%)、女14例(60.9%),中位年龄28.0(19.0,45.0)岁。结果8例(34.8%)患者行瓣膜再修复,15例(65.2%)行瓣膜置换。入组患者中,2012年之前的瓣膜修复率16.7%,2012年采用Cone重建技术后,瓣膜修复率54.5%(P=0.089)。瓣膜修复组中,采用Danielson或Carpentier技术成形3例(37.5%),Cone重建5例(62.5%)。无手术死亡,早期并发症3例(37.5%)。中位随访时间6.9(3.0~15.1)年,无不良事件。瓣膜置换组中,7例(46.7%)行机械瓣置换,8例(53.3%)行生物瓣置换。无手术死亡,早期并发症3例(20.0%)。中位随访时间6.5(2.5~15.3)年,死亡1例(6.3%),远期并发症4例(26.7%)。结论Ebstein畸形再发三尖瓣关闭不全的二次手术近、远期生存状况良好,再手术率低。Cone重建技术增加了瓣膜二次修复成功的可能性,降低了瓣膜置换的几率。三尖瓣置换术仍是可选的替代方法,生物瓣较机械瓣可能是更好的选择。     

Relationships between anthropometric adiposity indexes and bone mineral density in a cross-sectional Chinese study

Background ContextPrevious studies have reported conflicting results for the relationships between anthropometric adiposity indexes and bone mineral density, based on dual-energy X-ray absorptiometry (DXA). However, few studies were published based on quantitative computed tomography (QCT), especially for Chinese population.PurposeTo evaluate the associations of spine bone mineral density (BMD) with body mass index (BMI), waist circumstance (WC), waist-to-hip ratio (WHR), waist-to-height ratio (WHtR) and a body shape index (ABSI) using QCT.Study Design/SettingA Cross-sectional study.Patient SampleAround 3,457 participants in multiple communities across 7 administrative regions of China.Outcome MeasuresSpine BMD was measured using QCT, and the classification of osteoporosis was defined as follows: 1) osteoporosis if BMD <80mg/cm³, 2) osteopenia if BMD 80–119 mg/cm³, and 3) normal bone mass if BMD≥120 mg/cm³.MethodsThis study was conducted using convenient sampling between 2013 and 2017. Multivariable linear regression model and logistic regression models were used for the associations of continuous and categorical BMD, respectively.ResultsAround 3,405 participants were included in the final analyses, including 1,272 males and 2,133 females, with spine BMD of 111.00±35.47 mg/cm³ and 99.38±40.60 mg/cm³, respectively. Spine BMD decreased significantly with the increase of ABSI in females (adjusted β, ?5.74; 95% confidence interval [CI], ?8.50 to ?2.98), and this trend also was kept in females aged at less than 60 years (adjusted β, ?14.54; 95% CI, ?20.40 to ?8.68), and females with age ≥60 years (adjusted β, ?7.59; 95% CI, ?10.91 to ?4.28). However, this inverse association was observed only in males with age ≥ 60 years (adjusted β, ?5.19; 95% CI, ?10.08 to ?0.29). Except ABSI, negative associations of Spine BMD with WC (adjusted β, ?0.46; 95% CI, ?0.77 to ?0.15), WHR (adjusted β, ?6.25; 95% CI, ?10.63 to ?1.86), WHtR (adjusted β, ?6.80; 95% CI, ?11.63 to ?1.97) were shown in females aged at <60 years, and positive association with BMI in males with age ≥60 years (adjusted β, 0.92; 95% CI, 0.29–1.55).ConclusionsABSI had more remarkable association with spine BMD, compared with the other four indexes.