Reproducibility of corrected QT interval in pediatric genotyped long QT syndrome

Reproducibility of corrected QT interval (QTc), especially QTc after exercise, has not been thoroughly investigated. We reviewed charts of pediatric patients who underwent treadmill‐exercise stress testing without medication multiple times within 1 year. In patients with long‐QT syndrome (LQTS; n = 22), the discrepancy in QTc between two treadmill exercise stress tests using Fridericia's formula was 14 ± 12 ms at rest, 13 ± 12 ms 4 min after exercise, with a maximum of 14 ± 12 ms after exercise. There was no statistically significant difference in QTc between the two tests. Intraclass correlation coefficients (ICC) were 0.84, 0.85, and 0.85, respectively. In controls (n = 13), the discrepancy in QTc was 18 ± 12 ms at rest, 14 ± 7 ms 4 min after exercise, with a maximum of 14 ± 9 ms after exercise. There was no significant difference in QTc between the two tests. ICC were 0.78, 0.80, and 0.80, respectively. QTc calculated using Bazett's formula also showed high reproducibility. Reproducibility of QTc in children is high at rest and after exercise.     

Prenatal diagnosis of Gaucher disease using next‐generation sequencing

In the prenatal diagnosis of Gaucher disease (GD), glucocerebrosidase (GBA) activity is measured with fetal cells, and gene analysis is performed when pathogenic mutations in GBA are identified in advance. Herein is described prenatal diagnosis in a family in which two children had GD. Although prior genetic information for this GD family was not obtained, next‐generation sequencing (NGS) was carried out for this family because immediate prenatal diagnosis was necessary. Three mutations were identified in this GD family. The father had one mutation in intron 3 (IVS2 + 1), the mother had two mutations in exons 3 (I[‐20]V) and 5 (M85T), and child 1 had all three of these mutations; child 3 had none of these mutations. On NGS the present fetus (child 3) was not a carrier of GD‐related mutations. NGS may facilitate early detection and treatment before disease onset.     

环状RNA与疾病关系的研究进展

环状RNA是最近发现的一类内源性非编码RNA,由内含子配对驱动的环化等模型产生,受相关调控因子调控。环状RNA的一个重要生物学功能是作为miRNA海绵,使miRNA水平在短时间内发生明显改变。环状RNA与疾病密切联系,是具有诊断和治疗潜力的分子。本文论述环状RNA的生物合成及调控、环状RNA的生物学功能以及环状RNA与疾病的关系。     

长链非编码RNA在自身免疫性疾病中的研究进展

长链非编码RNA(LncRNAs)是转录本长度大于等于200 nt的,不具备编码蛋白功能的RNA。LncRNAs具有基因转录、蛋白质转运及染色质重塑等功能。LncRNAs参与多种免疫性疾病的发生、发展与转归,在自身免疫性疾病中发挥重要的作用。     

Prior history of anterior cruciate ligament (ACL) reconstruction is associated with a greater risk of subsequent ACL injury in female collegiate athletes

ObjectivesThe risk of a subsequent anterior cruciate ligament (ACL) sprain is greater in high school aged female athletes with prior history of ACL reconstruction (ACLR) than in age-matched controls. The risk of a subsequent ACL injury in female collegiate athletes with prior ACLR is unknown. The primary purpose of this study was to determine the relative risk of a subsequent ACL injury in female collegiate athletes with prior ACLR when compared to age-matched controls. The secondary purpose of this study was to evaluate the ability of jump and hop tests to discriminate ACL injury risk.DesignProspective cohort.MethodsThree hundred and sixty female collegiate athletes (mean age 19.3 ± 1.4 years) representing the following sports: volleyball, soccer, and basketball were recruited.Subjects reported prior history of ACLR and standing long jump (SLJ) and single-leg hop (SLH) scores were collected during the preseason. Noncontact time-loss ACL and lower quadrant (i.e., low back and lower extremities) injuries were tracked by university athletic trainers.ResultsFemale collegiate athletes with a prior history of ACLR were 6 times (RR = 6.8 [95% CI: 1.4, 32.9] p-value = 0.007) more likely to experience an ACL injury than controls. Suboptimal performance on a battery of tests (SLJ ≤ 79% height, (B) SLH ≤ 69% height) was associated with a greater risk of lower quadrant injury (RR = 1.6 [95% CI: 1.1, 2.4] p-value = 0.028); however performance on these tests was not associated with ACL injury.ConclusionsFemale collegiate athletes should be screened for history of ACLR.     

长链非编码RNA与口腔癌研究进展

口腔癌(oral cancer)是口腔外科常见的恶性肿瘤,易发生转移且预后不容乐观,长链非编码RNA(Long non-coding RNA,lncRNA)是一类内源性的长度大于200个核苷酸、缺少特异完整的开放阅读框,不具有蛋白质编码功能的转录本,最初认为并没有生物学功能,但随着生物学技术的发展,发现其能够在表观遗传水平、转录水平和转录后水平等多个层面上调控基因的表达,从而影响机体生长、发育、衰老和死亡等重要的生命活动以及疾病的发生和发展。近年来的研究显示口腔癌的发生、发展、侵袭、转移和预后与lncRNA的表达水平密切相关。因此本文对lncRNA在口腔癌中的研究进展进行论述,并探讨lncRNA与口腔癌发生、发展之间的关系,旨在进一步阐述lncRNA与OSCC的关系并为寻找口腔癌肿瘤标志物提供新的方向,为口腔癌患者提供新的治疗策略。     

LncRNA与心血管疾病的研究进展

研究发现,人基因组中具有编码蛋白质功能的转录产物仅占约2%,其余大部分均为非编码RNAs。长链非编码RNA(Long noncoding RNA,LncRNA)是一类长度大于200个核苷酸的非编码RNA。研究表明LncRNA在心血管疾病中存在差异表达,并且通过不同的作用机制在心血管疾病的调控网络中发挥作用,参与心血管疾病的发生发展。本综述对近年来LncRNA与心血管疾病的研究进展进行总结,并将对其作为心血管疾病新型分子标记物及治疗靶点的可行性进行探讨。