MACVIA-LR,Reference site of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) in Languedoc Roussillon

The Région Languedoc-Roussillon is the umbrella organisation for an interconnected and integrated project on AHA covering the 3 pillars of the European Innovation Partnership on Active and Healthy Ageing. All sub-activities (A1: electronic pharmaceutical file, A2: falls prevention initiative, A3: frailty, B3: chronic respiratory diseases, chronic diseases with comorbidities, oral health and hepatitis virus C chronic infection, C2 and D4 active and independent living and handicap) are included in MACVIA-LR that has a strong political commitment and includes all stakeholders (public, private, patients, policy makers). It is one of the Reference Sites of the European Innovation Partnership on Active and Healthy Ageing built around chronic diseases, ageing and handicap. The framework of MACVIA-LR has the vision that the prevention and management of CDs is essential for AHA promotion and for the reduction of handicap. The main objective of MACVIA-LR is to develop innovative solutions for a network of Living Labs in order to improve the care of patients affected by CDs in the Languedoc-Roussillon area and to disseminate the innovation.     

氨酰基-tRNA合成酶基因变异10例分析

目的 研究氨酰基-tRNA合成酶（ARS）缺陷相关疾病的临床特征。方法 回顾性分析2016年1月至2019年10月通过二代测序诊断的10例ARS基因变异患儿的临床资料及基因突变类型。结果 10例ARS基因变异患儿中，起病年龄为0~9岁，首发症状多为抽搐（7例）。临床表现为共济失调为主而智力轻度落后或正常，伴或不伴有癫痫（4例）；或儿童期起病的癫痫，后出现发育倒退（2例）；也可表现为新生儿期起病，严重癫痫脑病，出现肌阵挛、全面强直及痉挛发作（4例），伴有严重发育落后（3例）、喂养困难（2例）、听力损害（1例）等。10例患儿中，共检测出5种基因突变，包括AARS2（c.331G > C、c.2682+5G > A、c.2164C > T、c.761G > A，均为新突变）3例，DARS2（c.228-16C > A、c.536G > A，均为已报道突变）2例，CARS2（c.1036C > T、c.323T > G，均为新突变）1例，RARS2（c.1210A > G、c.622C > T，均为新突变）1例，AARS（c.1901T > A、c.229C > T、c.244C > T、c.961G > C、Chr16：70298860-70316687del、c.2248C > T，均为新突变）3例。结论 ARS基因缺陷相关疾病临床表型异质性高。该研究共发现5种ARS基因的14个未报道的变异，丰富了ARS缺陷相关疾病的临床表型及基因型。     

Maintenance and copy number control of ARS1 plasmids in Saccharomyces cerevisiae

Summary Following mating of a and isogenic haploids we observe that the frequency of plasmid bearing cells, during selective growth, increases three fold. By examining the mitotic stability, the frequency of plasmid bearing cells during the cell cycle and the copy number of ARS1 plasmids in isogenic haploid and diploid cells, we show that the apparent stability of circular ARS1 plasmids in a/ cells is largely due to a diminished copy number in these cells. This observation is fully comprehensible with the model for plasmid segregation as presented by Murray and Szostak (1983). In order to account for the differences in copy numbers, a and a/a isogenic strains were compared. Likewise a number of mating type nonspecific sterile mutants were compared with the parental Ste⁺ strain. It seems that a diminished copy number is established when the MATa1/MAT2 regulatory system (Klar et al. 1981) is switched on, since the effect is observed in Sir^– strains only.     

直肠癌术后前切除综合征的研究进展

随着外科技术的提高和医学器械的改进,越来越多的低位直肠癌患者在得到肿瘤的根治性切除的同时得以保留肛门,避免了永久性造瘘。然而,较大比例的低位保肛患者,术后会出现一系列的肛门及肠道功能障碍,我们称之为前切除综合征。手术成功而治疗失败的临床案例屡见不鲜,前切综合征的出现严重影响了患者的生活质量,但其机制和诊疗措施尚缺乏统一的认知,本文将对前切除综合征这一临床症状的研究进展进行综述。     

Chloroplast origins of DNA replication are distinct from chloroplast ARS sequences in two green algae

Summary A 5.3 kb chloroplast restriction fragment of Chlamydomonas reinhardii containing an origin of DNA replication and a sequence capable of promoting autonomous replication in C. reinhardii (ARC sequence) also carries an ARS sequence (autonomous replication in yeast). The ARC and ARS elements have been physically mapped and shown to be distinct from the origin of DNA replication. Similarly, restriction fragments containing the origin of chloroplast DNA replication from Euglena gracilis are unable to promote autonomous replication in yeast.     

Neurotrophin-3 gene,intelligence, and selective attention deficit in a Korean sample with attention-deficit/hyperactivity disorder

Objective

Attention-deficit/hyperactivity disorder (ADHD) is a complex neurodevelopmental disorder with a strong genetic component. Neurotrophin-3 (NTF3), which participates in the differentiation and survival of dopaminergic and noradrenergic neurons, has been identified as a factor in the development of ADHD. We investigated the relationships between ADHD and NTF3 gene polymorphism.

Methods

We conducted a case–control analysis of 202 ADHD subjects and 159 controls, performed a transmission disequilibrium test (TDT) on 151 trios, and compared the intelligence quotient (IQ) and a continuous performance test (CPT) according to the genotype of two single-nucleotide polymorphisms (SNPs) (rs6332 and rs6489630) in the NTF3 gene.

Results

In the case–control and family-based analyses, NTF3 was not significantly associated with ADHD. However, in the ADHD probands, the subjects with AA genotype in the rs6332 SNP had significantly higher mean T-scores for commission errors on the CPT than did those with the AG genotypes (p = 0.045). The mean IQ of the ADHD probands who had the CC genotype of the rs6489630 SNP were higher compared with those who had the CT or TT genotype (p = 0.035). The mean T-score for response time on the CPT was higher in the subjects with TT genotype in the rs6489630 SNP compared to those with the CC or CT genotype, even after adjusting for the effect of IQ (p = 0.021).

Conclusions

These results provide preliminary evidence of an association between NTF3 and the intelligence and selective attention deficit in the Korean population.     

Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous

Mal de Meleda is a rare autosomal recessive genodermatosis caused by mutations in the ARS B (SLURP1) gene, with possible founder effects in the Mediterranean and Adriatic regions. We report an affected individual from Indonesia without known consanguinity in the family, suggesting that SLURP1 gene mutations are ubiquitous. Recognition of the phenotype can be confirmed by genetic testing, thus facilitating genetic counselling.     

八年制学生医学影像学小组讨论课中应用观众反馈系统（ARS）的研究

在小组讨论课中引入ARS,探讨ARS是否能提高小组讨论课学习效率、促进学生医学影像学学习.结果显示,ARS小组讨论课具有以下优势：促进学生医学影像学学习的积极性,加深学生对课程内容的记忆,提高学生分析解决问题的能力,提高学习效率,促进学生对知识点的理解.     

Blood and urinary levels of metals and metalloids in the general adult population of Northern France: The IMEPOGE study, 2008–2010

Background

The assessment of human chemical risks related to occupational or environmental exposure to pollutants requires the use of both accurate exposure indicators and reference values. The objective of this study was to evaluate the blood and urinary levels of various metals and metalloids in a sample of adults aged 20–59 years of the general population of Northern France, a formerly heavily industrialised area that retains some industrial activity.

Diagnostic utility of transbronchial lung cryobiopsy: Two cases of anti-aminoacyl-tRNA synthetase syndrome with respiratory failure

Transbronchial lung cryobiopsy (TBLC) is a useful and safe method for the diagnosis of interstitial lung disease (ILD). Herein, we describe the cases of two patients who developed ILD from anti-aminoacyl-tRNA synthetase syndrome with respiratory failure. TBLC was performed instead of surgical lung biopsy. There were no complications, and sufficient specimens were harvested to make the precise histopathological diagnosis. TBLC should be considered as a critical approach for the histopathological diagnosis of ILD in patients who cannot undergo surgical lung biopsy because of respiratory failure.