Renal cystic disease in tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is associated with TSC1 or TSC2 gene mutations resulting in hyperactivation of the mTORC1 pathway. This mTORC1 activation is associated with abnormal tissue development and proliferation such that in the kidney there are both solid tumors and cystic lesions. This review summarizes recent advances in tuberous sclerosis complex nephrology and focuses on the genetics and cell biology of tuberous sclerosis complex renal disease, highlighting a role of extracellular vesicles and the innate immune system in disease pathogenesis.     

血清IL-16、CCL27及TRAIL与多发性硬化病情严重程度的相关性及其预测价值

摘要 目的：探讨血清白细胞介素-16（IL-16）、CC趋化因子配体27（CCL27）及肿瘤坏死因子相关凋亡诱导配体（TRAIL）与多发性硬化病情严重程度的相关性及其预测价值,为多发性硬化的诊断提供理论依据。方法：以2018年1月-2022年10月本院收治的多发性硬化患者72例为研究对象,依据症状严重程度分为急性发作期（n=40）及缓解期（n=32）,另选取同期于本院接受体检的健康志愿者65例为对照组。以酶联免疫吸附法（ELISA）测定所有研究对象的血清IL-16、CCL27、TRAIL水平。以Spearman相关性分析血清IL-16、CCL27、TRAIL水平与多发性硬化病情严重程度的相关性,绘制受试者特征曲线（ROC）分析血清IL-16、CCL27、TRAIL水平对多发性硬化病情严重程度的预测价值。结果：研究组的血清IL-16、CCL27、TRAIL水平高于对照组（P<0.05）;急性发作期患者的血清IL-16、CCL27、TRAIL水平高于缓解期患者（P<0.05）。Spearman相关性分析显示,血清IL-16、CCL27、TRAIL水平与多发性硬化的病情严重程度呈正相关（r=0.436,0.461,0.447,P<0.05）。ROC曲线分析结果显示,血清IL-16、CCL27、TRAIL水平联合预测多发性硬化病情严重程度的曲线下面积（AUC）为0.939,显著优于各指标单独评估。结论：血清IL-16、CCL27、TRAIL水平与多发性硬化的发生、发展密切相关,早期检测血清IL-16、CCL27、TRAIL水平对多发性硬化病情具有一定的预测价值,且联合预测的价值更高。     

Oral consumption of α-glucosyl-hesperidin could prevent lens hardening,which causes presbyopia

Presbyopia is one of the most well-known diseases of the eye, predominantly affecting the adult population after 50 years’. Due to hardening of the lens and failure of accommodative change, patients lose the ability to focus on near objects. This eye symptom is reported to be an early symptom of age-related nuclear cataract, and we have previously reported that hesperetin treatment could delay the onset of nuclear cataractogenesis induced by sodium selenite. In this study, we examined whether oral intake of α-glucosyl-hesperidin (G-Hsd), which has greater water solubility than hesperetin, could delay the onset of presbyopia. G-Hsd treatment protected lens elasticity, upregulated the mRNA expression of anti-oxidative enzymes like glutathione reductase and thioredoxin reductase 1 in the plasma and lens, and prevented premature cataract symptoms in selenite-induced cataract rat lens. Thus, the anti-presbyopic effects of G-Hsd were attributed, at least in part, to its antioxidant effects. G-Hsd represents the first oral treatment agent with anti-presbyopia and/or anti-cataract properties.     

A Method of Trigonometric Modelling of Seasonal Variation Demonstrated with Multiple Sclerosis Relapse Data

This report describes a novel Stata-based application of trigonometric regression modelling to 55 years of multiple sclerosis relapse data from 46 clinical centers across 20 countries located in both hemispheres. Central to the success of this method was the strategic use of plot analysis to guide and corroborate the statistical regression modelling. Initial plot analysis was necessary for establishing realistic hypotheses regarding the presence and structural form of seasonal and latitudinal influences on relapse probability and then testing the performance of the resultant models. Trigonometric regression was then necessary to quantify these relationships, adjust for important confounders and provide a measure of certainty as to how plausible these associations were. Synchronization of graphing techniques with regression modelling permitted a systematic refinement of models until best-fit convergence was achieved, enabling novel inferences to be made regarding the independent influence of both season and latitude in predicting relapse onset timing in MS. These methods have the potential for application across other complex disease and epidemiological phenomena suspected or known to vary systematically with season and/or geographic location.     

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

The split hand phenomenon refers to predominant wasting of thenar muscles and is an early and specific feature of amyotrophic lateral sclerosis (ALS). A novel split hand index (SI) was developed to quantify the split hand phenomenon, and its diagnostic utility was assessed in ALS patients. The split hand index was derived by dividing the product of the compound muscle action potential (CMAP) amplitude recorded over the abductor pollicis brevis and first dorsal interosseous muscles by the CMAP amplitude recorded over the abductor digiti minimi muscle. In order to assess the diagnostic utility of the split hand index, ALS patients were prospectively assessed and their results were compared to neuromuscular disorder patients. The split hand index was significantly reduced in ALS when compared to neuromuscular disorder patients (P<0.0001). Limb-onset ALS patients exhibited the greatest reduction in the split hand index, and a value of 5.2 or less reliably differentiated ALS from other neuromuscular disorders. Consequently, the split hand index appears to be a novel diagnostic biomarker for ALS, perhaps facilitating an earlier diagnosis.