Ring finger protein 213(RNF213)was first identified as a susceptible gene for Moyamoya disease,and also found to be associated with various vascular related diseases such as intracranial artery occlusion/stenosis,ischaemic stroke,intracranial aneurysm,cerebral arteriovenous malformation,etc.This article systematically reviewed the literature of RNF213,providing an overview of the association and possible mechanisms between RNF213 variation and related diseases,in order to provide reference for the prevention,diagnosis,and treatment of related diseases.

Objective:To investigate the clinical and genetic characteristics of developmental and epileptic encephalopathy (DEE) caused by SLC1A2 gene mutations. Methods:The clinical manifestations, auxiliary examination results, and genetic testing results of a patient with DEE caused by SLC1A2 gene mutations who was treated at Epilepsy Center, Children's Hospital Affiliated to Shandong University on February 6, 2021 were summarized. Cases of SLC1A2 gene mutations were searched using keywords " SLC1A2" and "developmental and epileptic encephalopathy" in CNKI, Wanfang, and PubMed databases, retrieving literature published from the establishment of these databases to September 2024. Bioinformatics analysis was performed; the clinical and genetic characteristics of DEE caused by SLC1A2 gene mutations were summarized. Results:The main manifestations of the patient were rhythmic shaking of the right upper limb or focal motor seizures of bilateral upper limbs, or focal spasm of right upper limb (elevation for once). Ictal electroencephalogram showed 2-3 Hz polymorphic slow waves in the left central area, parietal area and central midline area, affecting the opposite side, or spike rhythm with decreased frequency in the right frontal area, central area and midline area, or polymorphic slow waves in the left central area and central midline area. Whole-exome sequencing indicated a heterozygous de novo mutation in the SLC1A2 gene: c.254T>G/p.Leu85Arg. A total of 7 patients with DEE caused by SLC1A2 gene mutations were retrieved from 5 related literature. All 8 patients (including the patient in our hospital) presented with epileptic seizure, developmental delay, and abnormal EEG; all of them were sporadic cases with de novo heterozygous missense mutations of SLC1A2 gene. Bioinformatics analysis showed that the 4 amino acid residues Gly82, Leu85, Pro289, and Pro333 in the 8 patients were located in the intolerance region of SLC1A2 gene encoding glutamate transporter protein 2 (EAAT2). The 5 amino acid mutations (Leu85Arg, Leu85Pro, Gly82Arg, Pro333Ser, Pro289Arg) in the 8 patients all led to significant changes in number and binding of hydrogen bonds between amino acid residues in EAAT2; except for Gly82Arg mutation, the other 4 mutations could obviously reduce the structural stability of EAAT2. Conclusion:De novo heterozygous missense mutations in SLC1A2 gene can lead to DEE, characterized by developmental delay, EEG abnormalities, and epileptic seizure; these mutations are typically located in critical regions of EAAT2, potentially resulting in reduced protein structural stability.

The application of pesticides(mostly insecticides and fungicides)during the tea-planting process will undoubtedly increase the dietary risk associated with drinking tea.Thus,it is necessary to ascertain whether pesticide residues in tea products exceed the maximum residue limits.However,the complex matrices present in tea samples comprise a major challenge in the analytical detection of pesticide residues.In this study,nine types of lateral flow immunochromatographic strips(LFICSs)were developed to detect the pesticides of interest(fenpropathrin,chlorpyrifos,imidacloprid,thiamethoxam,acet-amiprid,carbendazim,chlorothalonil,pyraclostrobin,and iprodione).To reduce the interference of tea substrates on the assay sensitivity,the pretreatment conditions for tea samples,including the extraction solvent,extraction time,and purification agent,were optimized for the simultaneous detection of these pesticides.The entire testing procedure(including pretreatment and detection)could be completed within 30 min.The detected results of authentic tea samples were confirmed by ultra-performance liquid chromatography-tandem mass spectrometry(UPLC-MS/MS),which suggest that the LFICS coupled with sample rapid pretreatment can be used for on-site rapid screening of the target pesticide in tea products prior to their market release.

[摘 要] 目的：探讨多结节非小细胞肺癌（NSCLC）组织中的驱动基因突变情况与临床病理特征的关系，为多结节NSCLC患者治疗提供分子诊断依据。方法：本研究共纳入2018年1月至2023年10月间云南省肿瘤医院分子诊断中心检测的121例多结节NSCLC患者的253个肺结节肿瘤组织标本，以第二代测序（NGS）技术或扩增阻滞突变系统PCR（ARMS-PCR）技术检测多结节NSCLC 组织中驱动基因突变情况，分析其与患者临床病理特征的关系，比较不同结节间肺癌驱动基因的突变异质性。结果：与非“宣威”NSCLC相比，“宣威”多结节NSCLC患者驱动基因突变具有显著的地域特点，表现在“宣威”患者具有较低（20%）的EGFR敏感突变（L858R、19-del）及较高（27.26%）的EGFR少见突变（主要为G719/S768I、G719）；“宣威”多结节NSCLC患者的KRAS突变率（27.27%）亦显著高于非“宣威”患者突变率（12.59%）（P<0.05）。此外，“宣威”多结节NSCLC患者驱动基因突变不一致率高达69.23%，远高于非“宣威”患者驱动基因突变不一致率（55.07%）（P<0.05）。结论：“宣威”多结节NSCLC患者具有较高的EGFR少见突变及KRAS突变率，同一患者不同病灶之间存在更高的驱动基因突变异质性，本研究将为“宣威”多结节NSCLC的诊疗策略提供更多的选择。

Objective: To explore the relationship between handgrip strength (HGS) and pulmonary function (PF) in college students with sedentary lifestyle, so as to provide a reference for taking HGS as an essential factor of PF. Methods: In March 1-5, 2023, a total of 44 college students were recruited and were divided into the sedentary group (22) and exercise group (22) according to the International Physical Activity Questionaire (IPAQ), with 22 students in each group. Independent sample t-test was used to compare the indexes between groups, pearson correlation coefficient was used to determine the correlation between HGS and PF. Multiple linear regression analysis was used to determine the predictive model of PF. Results: There were statistical significance of the correlations between HGS and FVC, MEP, PEF, FEV1, FIVC, MIP, and PIF ( r=0.79, 0.47, 0.44, 0.60, 0.72, 0.53 , 0.49, P <0.01). When gender, physical activity, age, height, weight, and HGS were included as predictors in the regression model, height and HGS had significant effects on FVC ( R 2=0.75, F= 60.55 , P <0.01), weight and HGS had a good predictive effect on FIVC ( R 2=0.67, F=41.77, P <0.01). Conclusion HGS is significantly associated with PF in college students with sedentary lifestyle. Therefore, HGS can be used as an important indicator to predict the PF status of habitual sedentary college students.

OBJECTIVES: Stroke has become the leading cause of death and disability among adults in China. This study aims to analyze the disease burden based on gender and age and the risk factors for stroke subtypes in China 2019, and to provide reference for targeted stroke prevention and control. METHODS: Based on 2019 data of the Global Burden of Disease (GBD), the gender and age in patients with different stroke subtypes (ischemic stroke, intracranial hemorrhage, subarachnoid hemorrhage) in China 2019 was described by using disability-adjusted life years (DALY), and attributable burden of related risk factors was analyzed. RESULTS: In 2019, the burden of intracranial hemorrhage was the heaviest one in China, resulting in 22.210 6 million person years of DALY, following by ischemic stroke and subarachnoid hemorrhage, resulting in 21.393 9 and 2.344 7 million person years of DALY, respectively. Among them, except the 0-14 age group, the disease burden of different subtypes of stroke in men was higher than that in women. The disease burden of ischemic stroke was increased with age in both men and women, with the heaviest disease burden in ≥70 years group. The disease burden of intracranial hemorrhage and subarachnoid hemorrhage was the heaviest in males aged 50-69 years old, and in females aged ≥70 years and 50-69 years, respectively. Metabolic factors were the main risk factors in all ages of different stroke subtypes, and the most important risk factor was high systolic blood pressure. Other risk factors were different between men and women. Smoking, high body mass index, high low-density lipoprotein, and outdoor particulate matter pollution were the main risk factors for stroke in men, while high body mass index, outdoor particulate matter pollution, and high fasting blood glucose were the main risk factors of stroke in women. The main risk were different among different age groups. CONCLUSIONS The burden and attributable risk factors for different stroke subtypes are discrepancy in different gender and age groups. Targeted interventions should be conducted in the future to reduce the burden of stroke.
Male ; Adult ; Humans ; Female ; Infant, Newborn ; Infant ; Child, Preschool ; Child ; Adolescent ; Middle Aged ; Aged ; Subarachnoid Hemorrhage/epidemiology* ; Quality-Adjusted Life Years ; Cost of Illness ; Stroke/etiology* ; Risk Factors ; China/epidemiology* ; Particulate Matter ; Ischemic Stroke ; Intracranial Hemorrhages/etiology*

Objective:To investigate the efficacy of autologous fat grafting in the treatment of stable linear scleroderma.Methods:A retrospective analysis was performed on 40 patients with stable linear scleroderma who received autologous fat grafting from October 2017 to November 2020 in the Department of Dermatology, Xijing Hospital, Air Force Medical University. There were 22 males and 18 females, aged 12 - 36 (18.2 ± 4.82) years. Skin lesions involved the forehead in 16 cases, the perioral area in 4, the lower jaw in 2, the cheek in 9, the trunk in 5, and the lower limb in 4, and the size of depressed skin defects was 3 - 24 cm 3. The patients′ subjective satisfaction rate, the decrease in the size of depressed skin defects, and the incidence of adverse reactions after autologous fat grafting were analyzed during the follow-up. Results:Six months after the grafting, 40 patients were followed up and evaluated, and the size of depressed skin defects markedly decreased. The satisfaction rate for appearance improvement after the first grafting was 60% (24/40) ; 35 patients received the second grafting, with a satisfaction rate of 88.6% (31/35) ; 17 received the third grafting, with a satisfaction rate of 94.1% (16/17) ; the total satisfaction rate was 87.5% (35/40). After the grafting, local skin unevenness was observed in the grafting area in 3 patients, and in the liposuction area in 2. The incidence rate of postoperative adverse reactions was 12.5% (5/40) .Conclusion:Autologous fat grafting was markedly effective in the treatment of stable linear scleroderma.

Objective To investigate the influence and significance of methylprednisolone(MP) on the genetic expression and distribution of peripheral blood mononuclear cells (PBMCs) IL-23 and IL-17 as well as Th17 and Treg in patients with ankylosing spondylitis (AS). Methods 30 patients in the active period of ASwere selected as study group and treated with short-term and high-dose MP. The treatment regimen was 2. 5-4 mg/kg, Qd, 3-4 d/course, 3-4 d interval and 2-3 courses. 30 healthy persons were selected as control group and given isometric normal saline by the same administration time and method. RT-PCRtest was used to assess the expression of PBMCs IL-23 P19 mRNAand IL17AmRNA, and FCMwas used to assess the cell distributions of PBMCs Th17 and Treg in control group and study group before and after treatment. Associations of them with clinical symptoms and indicators of disease activity were analyzed. Results 1. Cell distribution of Th17 and genetic expression of IL-23 and IL-17 in study group were higher than those in control group, and positively associated with BASDAI, hypnalgia, erythrocyte sedimentation rate(ESR) and CRP. Cell distribution of Treg in study group was lower than that in control group, and negatively associated with indicators mentioned above. 2. In study group, cell distribution of Th17, genetic expression of IL-23 and genetic expression of IL-17 were positively associated with each other, and the genetic expression of IL-23 and the cell distribution of Th17 were negatively associated with the cell distribution of Treg respectively. 3. In study group, BASDAI, BASFI, hypnalgia, ESRand CRPafter treatment were lower than those before treatment while cell distribution of Treg after treatment was higher than that before treatment. All the differences above were statistically significant. Conclusion The axis of IL-23/IL-17 and the unbalance of Th17/Treg could be involved in the attack and disease activity of AS. MPcould improve the clinical symptoms of ASand reduce the disease activity by inhibiting the secretion of proinflammatory factors IL-23 and IL-17, and correcting the unbalance of Th17/Treg.

Objective To evaluate clinical use of tigecycline in hospital patients. Methods Basic diseases, pathologic examinations, concurrent medication, therapeutic efficacy and side effects of 40 patients in Lishui Central Hospital of Zhejiang Province from January 2012 to December 2014 were analyzed retrospectively. Results The effective rate of patients using tigecycline for anti-infection treatment in hospital was 42. 5%. The rates of rational use, basically rational use and irrational use were 17. 5%, 77. 5% and 5. 0%, respectively. Adverse drug reactions occurred in 6 cases of tigecycline use (15. 0%). Conclusion Clinical use of tigecycline in inpatients was basically reasonable in this hospital. The clinical curative effect of tigecycline was good in a variety of infections caused by sensitive bacteria. However, the incidence of adverse drug reactions was high. Attentions should be paid in clinical application.

Objective To introduce a method of functional reparation for cleft lip with mini-approach.Methods We designed triangle flap in junctional zone between skin and mucosa,combined with intraoral incision approach,by means of repairing the orbicularis oris muscle,to obtain the reconstruction of labial arch,philtrum column and nasal wing.Results All cases in this study obtained perfect healing,with good augmentation at floor of the nose.Eight cases presented with good looking of philtrum and improvement in the shape of nostril.Conclusions Use of the method of functional reparation for cleft lip with mini-approach can decrease scar on skin,and hence decrease the contraction deform,as well as nice reconstruction of labial arch,philtrum column and nasal wing.