2022年欧洲临床营养与代谢学会和欧洲肥胖研究学会《肌肉减少性肥胖的定义和诊断标准共识》解读及启示

近年来,欧洲临床营养与代谢学会（ESPEN）和欧洲肥胖研究学会（EASO）的专家组成员对肌肉减少性肥胖（SO）的相关研究进行了系统地评价。2022年2月,ESPEN和EASO共同发布了《肌肉减少性肥胖的定义和诊断标准共识》,该共识对SO的定义和诊断进行了详细的阐述,旨在就SO的定义和诊断达成共识,为研究人员和临床工作者提供参考依据,以推进SO预防和治疗的发展。本文主要对《肌肉减少性肥胖的定义和诊断标准共识》中SO的定义,诊断流程包括筛查、诊断和分期标准,拟采用的方法和相关的参数等主要内容进行梳理和解读,旨在为国内医务工作者提供更多参考。     

切应力作用下肾近端小管上皮细胞纤溶酶原激活物(tPA和uPA)表达的变化及意义

检测切应力作用下肾近端小管上皮细胞纤溶酶原激活物tPA和uPA mRNA表达的变化,探讨糖尿病肾病早期小管间质细胞外基质重塑的可能机制.用5 dyn/cm2和10 dyn/cm2的切应力处理肾近端小管上皮细胞(NRK-52E),作用时间分别为1、3和6 h,用RT-PCR法检测tPA及uPA mRNA的表达.结果表明:切应力呈大小和时间依赖性下调肾小管上皮细胞tPA及uPA mRNA的表达.在糖尿病肾病早期,高滤过引起的切应力增加可抑制肾近端小管上皮细胞tPA和uPA mRNA表达,导致肾小管间质纤维蛋白溶解活性降低,参与小管间质细胞外基质的重塑.     

Large duplication in LMBR1 gene in a large Chinese pedigree with triphalangeal thumb polysyndactyly syndrome

Polydactyly and syndactyly are digital abnormalities in limb‐associated birth defects usually caused by genetic disorders. In this study, a five‐generation Chinese pedigree was found with triphalangeal thumb polysyndactyly syndrome (TPTPS), showing an autosomal dominant pattern of inheritance. We utilized linkage analysis and whole genome sequencing (WGS) for the genetic diagnosis of this pedigree. Linkage analysis was performed using a genome‐wide single nucleotide polymorphism (SNP) chip and three genomic regions were identified in chromosomes 2, 6, and 7 with significant linkage signals. WGS discovered a copy number variation (CNV) mutation caused by a large duplication region at the tail of chromosome 7 located in exons 1–5 of the LMBR1 gene, including the zone of polarizing activity regulatory sequence (ZRS), with a length of approximately 180 kb. A real‐time polymerase chain reaction (PCR) assay confirmed the duplication. The findings of our study supported the notion that large duplications including the ZRS caused TPTPS. Our study showed that linkage analysis in combination with WGS could successfully identify the disease locus and causative mutation in TPTPS, which could help elucidate the molecular mechanisms and genotype–phenotype correlations in polydactyly.     

Associations of park features with park use and park-based physical activity in an urban environment in Asia: A cross-sectional study

Park use is associated with health, yet our understanding of park features related to their use is limited. Singapore's parks were audited for 30 micro-features, then geospatial analysis characterized micro-features scores for parks nearest to participants' homes. Adults (3,435) reported their park use and park-based physical activity. Using linear regression models, we found living near a park with higher micro-features scores was associated with more time in parks and park-based physical activity. Specific micro-features were associated with more park time (wildlife areas, water features, forested areas, unpaved trails (2–2.6 h/month, p < 0.05)) and with physical activity in parks (water features, forested areas, large playground, open green spaces (1.8–2.2 h/month, p < 0.05)). These findings could inform parks planning to support population-health.