Correction to: The IgG galactosylation ratio is higher in spondyloarthritis patients and associated with the MRI score

Clinical Rheumatology - In the original version of the above article the References 19 and 20 were incorrect which cannot describe the development of the SPARCC score.     

Mutation spectra and founder effect of TMC1 in patients with non‐syndromic deafness in Xiamen area,China

To analyze the spectrum and founder effect of TMC1 mutations in patients with non‐syndromic deafness in the Xiamen area. Sporadic pedigrees were detected by targeted next‐generation sequencing, and 110 unrelated patients from Xiamen Special Education School were analyzed through Sanger sequencing for the TMC1 gene. In total, 53 SNPs were designed to analyze the haplotypes of the TMC1 c.2050G>C mutation. The probands of three families were found to be homozygous for TMC1 c.2050G>C, and their parents were all heterozygous for the TMC1 c.2050G>C mutation. In 110 unrelated patients from Xiamen Special Education School, four were found to carry compound heterozygotes of TMC1 c.2050G>C, which were compound heterozygotes of c.804G>A, c.1127T>C, c.1165C>T, and c.1396_1398delAAC, respectively. Three types of TMC1 polymorphisms (c.45C>T, c.1713C>T, c.2208+49C>T) and two heterozygotes of novel variants (c.1764‐4C>A, c.2073G>A[p.K691K]) were found in the remaining 100 patients. In total, four novel variants were detected in this study. These mutations and variants were not detected in 100 normal samples. The haplotypes of the probands of families with TMC1 c.2050G>C were identical. There were unique hotspots and spectra of TMC1 mutations in the Xiamen deaf population. Haplotype analysis is useful to understand the founder effect of the hot spot mutation.     

动脉瘤性蛛网膜下腔出血并脑积水的防治研究

目的探讨腰大池置管持续引流对动脉瘤性蛛网膜下腔出血(a SAH)并发脑积水的防治效果。方法选取86例a SAH急性期行动脉瘤夹闭手术患者随机分为两组:对照组患者术后仅行间断腰椎穿刺治疗,观察组患者则术后则行腰大池置管持续外引流治疗,并定期测定两组患者脑脊液中溶血磷脂酸(LPA)含量,观察其与a SAH并发脑积水的关系及临床安全性。结果 a SAH对照组患者发病7 d、14 d时脑脊液LPA含量显著高于观察组(t1=8.225,P=0.000;t2=4.168,P<0.001);a SAH对照组并发急性脑积水的发生率与观察组间无显著性差异(χ2=0.192,P=0.661),而a SAH对照组并发亚急性和慢性脑积水的发生率明显高于观察组(χ2=7.535,P=0.006);所有a SAH并发脑积水患者发病14 d时脑脊液中LPA含量显著高于a SAH未并发脑积水患者(t=4.893,P<0.001);治疗期间两组a SAH患者均未出现严重并发症。结论早期腰大池持续外引流能够有效防治a SAH并发脑积水的发生,该作用与其降低a SAH后脑脊液中LPA含量密切相关。     

TRAF4 enhances oral squamous cell carcinoma cell growth,invasion and migration by Wnt-β-catenin signaling pathway

Oral squamous cell carcinoma (OSCC) ranks as the fifth most common cancer worldwide with poor prognosis. Recently, tumor necrosis factor receptor-associated factor 4 (TRAF4) has attracted increasing attenuation due to its overexpression in certain cancers. However, its function and underlying mechanism in OSCC remains elusive. In this study, the high expression of TRAF4 mRNA and protein levels was noted in OSCC cell lines. Its overexpression with pcDNA3.1-TRAF4 vector transfection dramatically promoted cell proliferation and inhibited cell apoptosis, indicating a pivotal role of TRAF4 in OSCC cell growth. Simultaneously, TRAF4 elevation also increased cell invasion and migration. Mechanism analysis confirmed that TRAF4 up-regulation induced the expression of β-catenin and the downstream target molecules of cyclinD1, c-myc, Bcl-2, MMP-9 and MMP-2, indicating that TRAF4 could induce the activation of Wnt/β-catenin pathway. After pretreatment with β-catenin siRNA, the pathway was remarkably silenced. Simultaneously, cell growth, invasion and migration induced by TRAF4 were strikingly abrogated, suggesting that TRAF4 may promote OSCC cell growth, invasion and migration by Wnt/β-catenin pathway. Together, this study confirmed that TRAF4 acts as an oncogene for the development and progression of OSCC. Therefore, our study may support a promising therapeutic target for the treatment of OSCC.     

支气管镜肺活检在肺泡蛋白沉积症中的诊断价值

目的：评价支气管镜肺活检(transbronchial lung biopsy,TBLB)在肺泡蛋白沉积症(pulmonary alveolar proteinosis,PAP)中的诊断价值和限度。方法：对2006年6月至2012年12月在中南大学湘雅二医院住院、资料完整的 TBLB病理确诊和非TBLB诊断的PAP 25例及TBLB病理误诊为PAP 4例进行回顾性分析。结果：25例PAP患者中,14例 一次TBLB病理确诊[一次TBLB阳性率为56%(14/25)],一次TBLB阴性病例中6例再次TBLB确诊[二次TBLB阳性率为 24%(6/25)],总阳性率为80%(20/25),总阴性率为20%(5/25)。其中,5例经典型CT表现及支气管肺泡灌洗液检查确 诊,并经全肺灌洗证实;而同期TBLB病理检查将其他疾病误诊为PAP者4例。结论：TBLB是很好的诊断方法,但一 次TBLB阴性不能排除PAP,条件允许可重复进行;临床和CT表现典型结合肺泡灌洗液检查阳性可作为临床诊断依 据;不典型的病例需进行TBLB。     

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Endothelial dysfunction is associated with major causes of morbidity and mortality, as well as numerous age-related conditions. The possibility of preserving or even rejuvenating endothelial function offers a potent means of preventing/treating some of the most fearful aspects of aging such as loss of mental, cardiovascular, and sexual function. Endothelial precursor cells (EPC) provide a continual source of replenishment for damaged or senescent blood vessels. In this review we discuss the biological relevance of circulating EPC in a variety of pathologies in order to build the case that these cells act as an endogenous mechanism of regeneration. Factors controlling EPC mobilization, migration, and function, as well as therapeutic interventions based on mobilization of EPC will be reviewed. We conclude by discussing several clinically-relevant approaches to EPC mobilization and provide preliminary data on a food supplement, Stem-Kine, which enhanced EPC mobilization in human subjects.     

Smoking quantity determines disease activity and function in Chinese patients with ankylosing spondylitis

The objective of this study was to systemically and comprehensively evaluate the associations between smoking and disease outcomes in patients with ankylosing spondylitis (AS). Information on smoking, clinical features, and sociodemographic characteristics was collected by a questionnaire administered directly to the patient. Group differences were analyzed by t test or chi-square test. Logistic regression analysis was conducted with the Bath AS Disease Activity Index (BASDAI), Bath AS Functional Index (BASFI), C-reactive protein, and erythrocyte sedimentation rate as the dependent variables and different stratification of smoking duration, smoking intensity, and cumulative smoking as independent variables. In order to compare our results with previous studies, meta-analysis was performed to calculate standardized mean difference (SMD) for relationship between outcomes and smoking status. A total of 1178 AS patients were analyzed. Compared with non-smokers, the risk of having active disease (BASDAI ≥?4) was higher in patients who smoked at least 15 years, or 15 cigarettes per day, or 15 pack-years (OR?=?1.70 [1.06, 2.73], 1.75 [1.08, 2.82], and 1.97 [1.06, 3.67], respectively); and smokers had increasing risk of BASDAI ≥?4 with increasing years of smoking, or cigarettes per day, or pack-years (p_-trend?=?0.010, 0.008 and 0.006, respectively). The risk of having active disease was higher in patients who smoked at least 15 cigarettes per day or 15 pack-years (OR?=?1.74 [1.06, 2.84] and 2.89 [1.56, 5.35], respectively), with increasing number of cigarettes per day and pack-years. Smokers had an increased risk of BASFI ≥?4 (p_-trend?=?0.040 and 0.007, respectively). By meta-analysis, current, former and ever smokers had significantly higher BASDAI (SMD?=?0.34 [0.18, 0.48], 0.10 [0.01, 0.19], and 0.27 [0.20, 0.34], respectively) and BASFI (SMD?=?0.35 [0.16, 0.55], 0.30 [0.22, 0.39], and 0.35 [0.21, 0.50], respectively) compared to non-smokers. Smoking is a risk factor for greater disease activity and worse functioning in AS patients.     

Evaluation of adalimumab biosimilar candidate (HS016) in Chinese patients with active ankylosing spondylitis based on a health survey: sub-analysis of a phase 3 study

Clinical Rheumatology - The equivalence of the biosimilar HS016 to adalimumab (Humira) for the treatment of active ankylosing spondylitis (AS) patients has been previously validated. The aim was to...     

脑卒中继发癫（癎）的临床特征及危险因素分析

目的 探讨脑卒中继发癫（癎）的临床特点及发生癫（癎）的影响因素,为临床防治提供依据.方法 回顾性分析2010-06-2012-06本院收治的76例（病例组）脑卒中后继发癫（癎）的患者资料,同时随机抽取神经内科住院的76例（对照组）未继发癫（癎）的脑卒中患者资料,分析脑卒中后癫（癎）的临床特点和相关危险因素.结果 脑卒中继发癫（癎）发生率7.7%（76/986）,其中缺血性脑卒中82.9%,出血脑卒中17.1%;早发性癫（癎）25.0%,迟发性癫（癎）75.0%;皮质病灶继发癫（（癎））69.7%,皮质下病灶继发癫（（癎））30.3%.单因素分析显示,2组患者脑卒中类型、病灶部位与受累半球侧别等因素比较,差异均有统计学意义（P〈0.05）;多因素分析显示,出血性脑卒中和皮质病灶差异有统计学意义（P〈0.05）.结论 脑卒中继发癫（癎）以迟发性癫（癎）多见.出血性脑卒中和皮质病灶是脑卒中继发癫（癎）的独立危险因素.