A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree

 Hearing impairment is an extremely heterogeneous disorder. A total of 35 loci and 17 related genes for autosomal dominant nonsyndromic hearing loss have been identified. In a Chinese pedigree characterized by autosomal dominant inheritance with bilateral, postlingual, progressive, and sensorineural nonsyndromic hearing impairment, the putative disease gene locus was localized to chromosome 5q31.1-32 by a genome-wide scan. Fine mapping indicated that the disease gene was located within an 8.8-cM region between markers D5S2056 and D5S638, with a maximum two-point logarithm of differences (LOD) score of 6.89 (θ = 0) at D5S2017. By the candidate gene approach, mutation screening of the DIAPH1 and POU4F3 genes at 5q31 was performed. No mutation was found, suggesting that this is a novel deafness locus, which has been named DFNA42. Received: May 8, 2002 / Accepted: October 1, 2002     

新增工伤康复服务项目遴选及支付标准探索*

通过梳理工伤康复服务项目规范与支付标准制定等相关政策,阐述“国家版”和“广东省版”工伤康复服务项目和支付标准制定情况,分析新增工伤康复服务项目管理现状。选择广东省40家协议医院为样本,基于专家咨询法,计算专家采纳率,建立新增工伤康复服务项目目录,并通过基准项目赋值定价,为新增工伤康复服务项目遴选及支付标准提出管理措施。文章建议进一步细化新增工伤康复服务价格项目立项审批流程,建立新增工伤康复服务项目管理办法,规范管理制度。探索新增工伤康复服务项目纳入工伤保险目录管理机制,同时,充分发挥行业学会或协会的作用,加强卫生技术评估准入评审与价格制定管理决策中的广泛应用。     

化湿润燥方对干燥综合征模型小鼠颌下腺结构和功能的影响

目的：探索化湿润燥方对干燥综合征(SS)模型NOD/Ltj小鼠颌下腺组织病理损伤和功能的影响,以及对颌下腺细胞水通道蛋白5(AQP5)表达的调节作用。方法：以NOD/Ltj小鼠构建SS动物模型,选取9周龄雌性NOD/Ltj小鼠随机分为模型组、化湿润燥方组(7.15 g·kg^-1·d^-1)、硫酸羟氯喹(HCQ)组(1.30 g·kg^-1·d^-1),选取9周龄雌性BALB/c小鼠为正常组,每组6只。给药8周,记录各组小鼠饮水量、唾液流率,观察各组小鼠颌下腺病理染色结果并进行评分,采用免疫组化法(IHC)和蛋白免疫印迹法(Western blot)检测AQP5蛋白的表达水平。结果：与正常组比较,模型组小鼠饮水量明显增加(P<0.05)、唾液流率明显减低(P<0.05)。与模型组比较,化湿润燥方组小鼠饮水量明显降低(P<0.05)、唾液流率明显增加(P<0.05);HCQ组小鼠唾液流率明显增加(P<0.05)。颌下腺组织病理结果显示,与正常组比较,模型组小鼠病理评分、淋巴细胞浸...     

不同病程原发性干燥综合征患者的舌象与证候特点

目的：探索不同病程原发性干燥综合征(pSS)患者的舌象特点及中医证候差异。方法：采用调查研究的方法,纳入2018年12月至2021年10月于中日友好医院中医风湿病科就诊的pSS患者,根据病程(短病程<5年,中病程5～10年,长病程>10年)分组,应用卡方检验进行组间比较,Bonferroni法进行多重比较,两两比较以P<0.017为差异有统计学意义;并以2年为段,选择有组间差异的证候及特异性舌象要素进行卡方趋势检验,分析舌象与证候随着病程变化的趋势性。结果：共纳入193例pSS患者,短病程85例(44.0%),中病程69例(35.8%),长病程39例(20.2%)。舌色红绛,舌体裂纹、瘦薄、少津,苔燥是pSS常见舌象特点,且不同病程患者间差异无统计学意义。与中病程患者比较,短病程患者更易见淡红舌(χ²=6.407,P<0.017);与长病程患者比较,短病程患者更易见厚苔(χ²=6.784,P<0.017)、痰湿证(χ²=11.545,P<0.017),更少见气虚证(χ²     

基于TNF/NF-κB信号通路探讨枳实薤白桂枝汤减轻心肌梗死大鼠心肌损伤的作用机制

目的 从肿瘤坏死因子/核转录因子-κB（TNF/NF-κB）信号通路探讨枳实薤白桂枝汤（ZXGT）对异丙肾上腺素（ISO）诱导的大鼠心肌梗死（MI）的影响。方法 将48只SD大鼠随机分为空白组、模型组、培哚普利组（4 mg·kg^-1）、ZXGT组（24.4 g·kg^-1）、ZXGT+抑制剂组（ZXGT,24.4 g·kg^-1;TNF-α受体抑制剂R7050,5 mg·kg^-1）、抑制剂组（R7050,5 mg·kg^-1）,每组8只;各组大鼠预防性灌胃给药7 d,且ZXGT+抑制剂组、抑制剂组在第6、第7天给予腹腔注射抑制剂R7050 5 mg·kg^-1,除空白组外其余各组腹腔注射ISO,连续2 d,诱导大鼠MI模型;于实验第7天注射ISO 30 min后麻醉大鼠,检测心电图（ECG）观察ST段抬高值;采用小动物超声心动图检测大鼠心脏整体轴向应变（GLS）和心脏同步性;腹主动脉取血测定血清心肌肌钙蛋白T（cTnT）、肌酸激酶MB同工酶（CK-MB）、乳酸脱氢酶（LDH）水平及炎症因子TNF-α、白细胞介素-1β（IL-1β）水平;苏木素-伊红（HE）染色观察心肌组织病理变化;免疫组化（IHC）法检测心脏组织TNF-α、NF-κB p65、磷酸化（p）-NF-κB p65蛋白表达;蛋白免疫印迹法（Western blot）检测心脏组织肿瘤坏死因子受体1（TNFR1）、肿瘤坏死因子受体相关因子2（TRAF2）、转化生长因子激酶1（TAK1）、NF-κB抑制蛋白α（IκBα）、p-IκBα、NF-κB p65、p-NF-κB p65蛋白表达。结果 与空白组比较,模型组大鼠ECG ST段显著抬高（P<0.01）,超声心动图中GLS增大及同步性显著降低（P<0.01）,病理组织学显示心肌大面积坏死,血清cTnT、CK-MB、LDH、TNF-α、IL-1β水平显著升高（P<0.01）,心肌组织中的TNF-α、TNFR1、TRAF2、TAK1、p-IκBα、p-NF-κB p65蛋白表达水平显著升高（P<0.01）,IκBα蛋白表达水平显著降低（P<0.01）;与模型组比较,培哚普利组、ZXGT组、ZXGT+抑制剂组和抑制剂组大鼠的ECG ST段抬高值明显降低（P<0.05,P<0.01）,GLS和心脏同步性改善（P<0.05,P<0.01）,心肌坏死面积减小,血清cTnT、CK-MB、LDH、TNF-α、IL-1β水平均下调（P<0.01）,且ZXGT组、ZXGT+抑制剂组和抑制剂组均下调模型大鼠升高的TNF-α、TNFR1、TRAF2、TAK1、p-IκBα、p-NF-κB p65蛋白表达水平和上调IκBα的表达水平（P<0.05,P<0.01）;与ZXGT组比较,ZXGT+抑制剂组和抑制剂组差异无统计学意义。结论 ZXGT能保护ISO诱导的大鼠MI损伤,改善心脏功能,其作用机制可能与调控TNF/NF-κB信号通路有关。     

Potential Role of Probiotics in Ameliorating Psoriasis by Modulating Gut Microbiota in Imiquimod-Induced Psoriasis-Like Mice

Psoriasis is an immune-mediated systemic disease that may be treated with probiotics. In this study, probiotic strains that could or could not decrease interleukin (IL)-17 levels were applied to imiquimod (IMQ)-induced psoriasis-like mice via oral administration. Bifidobacterium adolescentis CCFM667, B. breve CCFM1078, Lacticaseibacillus paracasei CCFM1074, and Limosilactobacillus reuteri CCFM1132 ameliorated psoriasis-like pathological characteristics and suppressed the release of IL-23/T helper cell 17 (Th17) axis-related inflammatory cytokines, whereas B. animalis CCFM1148, L. paracasei CCFM1147, and L. reuteri CCFM1040 neither alleviated the pathological characteristics nor reduced the levels of inflammatory cytokines. All effective strains increased the contents of short-chain fatty acids, which were negatively correlated with the levels of inflammatory cytokines. By performing 16S rRNA gene sequencing, the diversity of gut microbiota in psoriasis-like mice was found to decrease, but all effective strains made some specific changes to the composition of gut microbiota compared to the ineffective strains. Furthermore, except for B. breve CCFM1078, all other effective strains decreased the abundance of the family Rikenellaceae, which was positively correlated with psoriasis-like pathological characteristics and was negatively correlated with propionate levels. These findings demonstrated effects of strain-specificity, and how probiotics ameliorated psoriasis and provide new possibilities for the treatment of psoriasis.     

Comparison of Three Screening Methods for Sarcopenia in Community-Dwelling Older Persons

ObjectiveThe 2019 Asian Working Group on Sarcopenia in Older People (AWGS 2019) recommends using either calf circumference or the strength, assistance in walking, rising from a chair, climbing stairs, and falls (SARC-F) or SARC-F combined with calf circumference (SARC-CalF) questionnaires for sarcopenia screening. The aim of this study was to compare the ability and applicability of calf circumference, SARC-F, and SARC-CalF for screening sarcopenia among community-dwelling older adults.DesignCross-sectional study.Setting and ParticipantsA total of 1050 community-dwelling older people were enrolled.MethodsSarcopenia was diagnosed according to the AWGS 2019 criteria: bioimpedance analysis for appendicular skeletal muscle index, hand grip, and 6-m gait speed test. Participants also completed the SARC-F questionnaire and calf circumference measurement. The screening tools’ performances were evaluated through receiver operating characteristic (ROC) curves, area under the ROC curves (AUC), and sensitivity/specificity analyses.ResultsSarcopenia was identified in 263 (25.0%) participants by the AWGS 2019 criteria. Calf circumference had a sensitivity of 81.4% and a specificity of 77.0%. Sensitivity and specificity of SARC-F for screening sarcopenia were 17.9% and 93.7%, respectively. SARC-CalF improved the sensitivity of SARC-F (47.5%) while keeping similar specificity (92.0%). The AUCs of calf circumference, SARC-F, and SARC-CalF were 0.79 [95% confidence interval (CI), 0.77–0.82], 0.56 (95% CI, 0.52–0.59), and 0.70 (95% CI, 0.67–0.73), respectively. The differences across ROC curves were statistically significant among 3 screening tools (P < .001).Conclusions and ImplicationsThe overall screening ability of calf circumference was better than that of SARC-F and SARC-CalF for sarcopenia in community-dwelling older persons despite gender, age, and cognitive function. SARC-F and SARC-CalF have high specificity but are susceptible to the preceding factors.     

产褥期乳腺炎影响因素分析

目的探讨导致产妇发生产褥期乳腺炎(PM)的影响因素。 方法选择2020年9月1日至12月31日,在成都市某三甲妇女儿童医院分娩,并进行产后42 d随访的1 162例产妇为研究对象。根据产妇产后42 d内是否发生PM,将其分为PM组(n＝103)与对照组(n＝1 059)。采用本研究自行设计的《产褥期乳腺炎相关影响因素调查问卷》(以下简称为《调查问卷》),联合《中国简式心理状态剖面图(POMS)量表》(以下简称为《POMS量表》),分别对2组产妇进行调查。《调查问卷》内容主要包括产妇一般人口学资料、妊娠及疾病、药物使用、母乳喂养、饮食及生活习惯等10个维度,共计50个条目。《POMS量表》包括心理焦虑等7个维度,共计40个条目。对2组产妇《调查问卷》条目及《POMS量表》评分,采用独立样本t检验、χ²检验及Fisher确切概率法等进行统计学比较。本研究遵循的程序符合病例收集医院医学伦理委员会要求,经过该伦理委员会批准[审批文号：科研伦审2021(29)],并与研究对象签署临床研究知情同意书。2组产妇的年龄等一般临床资料比较,差异无统计学意义(P>0.05)。 结果①本研究纳入产妇的PM发生率为8.9%(103/1 162),产后第3、4周PM发生率最高,分别为2.7%(31/1 162)与2.4%(28/1 162)。②本研究2组产妇围生期补充铁剂及口服益生菌占比,乳头皲裂程度、吸奶器使用时间及频率、乳头保护罩与乳头保护霜使用频率构成比,哺乳衔接姿势正确率,哺乳时乳房疼痛程度、哺乳内衣穿戴率等分别比较,差异均有统计学意义(P<0.05)。③PM组产妇《POMS量表》焦虑评分为(7.1±5.0)分,显著高于对照组的(5.3±4.1)分,并且差异有统计学意义(t＝-3.540、P＝0.001)。④将上述影响产妇发生PM的单因素分析中差异有统计学意义因素,并结合已有研究结果与临床经验,纳入10项影响因素,进行多因素非条件logistic回归分析结果显示,产妇围生期补充铁剂(OR＝3.351,95%CI：1.949~5.758,P<0.001),乳头皲裂(OR＝3.564,95%CI：1.909~6.654,P<0.001),吸奶器使用频率>1次/d(OR＝5.102,95%CI：1.047~24.876,P＝0.044),乳头保护霜使用频率>1次/d(OR＝2.147,95%CI：1.156~3.987,P＝0.016),哺乳衔接姿势不正确(OR＝2.311,95%CI：1.202~4.445,P＝0.012),穿戴不舒适哺乳内衣(OR＝2.322,95%CI：1.008~5.347,P＝0.048),不穿戴哺乳内衣(OR＝3.516,95%CI：1.821~6.789,P<0.001),焦虑评分高(OR＝1.073,95%CI：1.007~1.143,P＝0.029),均为导致产妇发生PM的独立危险因素;而围生期口服益生菌(OR＝0.110,95%CI：0.025~0.478,P＝0.003)是其独立保护因素。 结论通过制定临床干预措施,指导产褥期产妇纠正不正确行为,如围生期补充铁剂、吸奶器与乳头保护霜使用不当,哺乳内衣穿戴及哺乳行为不规范等,提倡产妇围生期口服益生菌,缓解产妇焦虑情绪,对预防产妇PM发生具有重要意义。     

Estimate of Burden and Direct Healthcare Cost of Infectious Waterborne Disease in the United States

Provision of safe drinking water in the United States is a great public health achievement. However, new waterborne disease challenges have emerged (e.g., aging infrastructure, chlorine-tolerant and biofilm-related pathogens, increased recreational water use). Comprehensive estimates of the health burden for all water exposure routes (ingestion, contact, inhalation) and sources (drinking, recreational, environmental) are needed. We estimated total illnesses, emergency department (ED) visits, hospitalizations, deaths, and direct healthcare costs for 17 waterborne infectious diseases. About 7.15 million waterborne illnesses occur annually (95% credible interval [CrI] 3.88 million–12.0 million), results in 601,000 ED visits (95% CrI 364,000–866,000), 118,000 hospitalizations (95% CrI 86,800–150,000), and 6,630 deaths (95% CrI 4,520–8,870) and incurring US $3.33 billion (95% CrI 1.37 billion–8.77 billion) in direct healthcare costs. Otitis externa and norovirus infection were the most common illnesses. Most hospitalizations and deaths were caused by biofilm-associated pathogens (nontuberculous mycobacteria, Pseudomonas, Legionella), costing US $2.39 billion annually.