毛囊性扁平苔藓1例

患者男,60岁。双小腿散在分布红斑和丘疹伴瘙痒1年余。皮肤科情况:双小腿见散在分布绿豆至胡豆大淡紫红色扁平斑块和丘疹,上覆少许鳞屑,部分可见Wickham纹。皮损组织病理示:表皮显著角化过度,毛囊口扩张,毛囊角栓,毛囊漏斗部基底细胞液化变性、颗粒层增厚,其下方真皮层大量淋巴细胞和组织细胞浸润。诊断:毛囊性扁平苔藓。口服阿维A20mg,1次/d。现随访中。     

Two polymorphisms in NEDD4L gene and essential hypertension in Chinese Hans - a population-based case-control study

Neural precursor cell expressed developmentally down-regulated 4-like (NEDD4L) gene may play an important role in the development of hypertension by regulating the amiloride-sensitive epithelial sodium channel for sodium reabsorption. Recently, a functional polymorphism located at the last nucleotide of exon 1 (rs4149601) of the NEDD4L gene were found to be associated with hypertension both in African Americans and whites, and a "flip-flop" association with hypertension was found in two white samples for a polymorphism located at intron 13 (rs3865418). In this study, we aimed at examining the role of these two variants on essential hypertension in Chinese Hans. In a population-based association study, we observed significantly higher prevalence of T allelic frequencies (p = 0.023) in hypertensives than normotensives. In logistic regression analysis, the stronger association was found under the additive model with an odds ratio of 1.31 (1.04-1.67) for T allele (p = 0.025). The association remained significant (p = 0.039) with an odds ratio of 1.29 (1.01-3.66) when adjusting for age and sex. We also constructed an ANCOVA factorial model by using clinical parameters as the dependent variable for rs3865418 polymorphisms. A significantly higher diastolic blood pressure was observed at rs3865418 in the dominant model for the T allele (p = 0.009). The positive association still exist after controlling age and sex (p = 0.013). For rs4149601 polymorphism, however, we did not observe a positive association with hypertension by implicating either logistic regression models or ANCOVA models. Thus, our results support rs3865418 but not rs4149601 polymorphism of NEDD4L gene implicated in the prevalence of hypertension in Chinese Hans.     

Receptor for advanced glycation endproduct modulators: a new therapeutic target in Alzheimer’s disease

Introduction: Reduction in the deposition of amyloid β (Aβ) has been the primary target for Alzheimer’s disease (AD) therapeutics recently, but in clinical trials this approach has generally been unsuccessful. A common feature of AD pathology is a complex inflammatory component that could be a target for treatment. One feature of this inflammation has been the involvement of the receptor for advanced glycation endproducts (RAGE), whose ligands include advanced glycation-endproduct-modified proteins as well as lipids and Aβ, which are found at elevated levels in AD brains.

Areas covered: In this article, the authors describe the key features of RAGE and how it could have a role in AD pathogenesis. They also summarize experimental animal and clinical data that demonstrate the therapeutic effect of RAGE inhibition and consider what these findings mean for human disease.

Expert opinion: RAGE has multiple ligands, including Aβ, that are increased in AD brains. Inhibiting RAGE-ligand interactions without activating receptor signaling can reduce multiple pathological pathways relevant for AD. Several RAGE inhibitors and modulators are now being tested as therapeutics for AD. Recent Phase II studies have established the good safety and tolerability of TTP448 with some evidence of positive benefit at lower dose. This suggests that further studies are required.     

Dichorionic twin pregnancy with sirenomelia and chromosomal anomaly in 1 fetus: A case report

Rationale:Sirenomelia is a rare congenital malformation that threatens fetal survivals. The cases in which twin with sirenomelia and chromosomal abnormality have been seldomly reported. We reported a dichorionic twin case in which one twin had sirenomelia, the other twin had a normal phenotype, and they had different chromosomal abnormalities.Patient concerns:The abnormal twin was found at 22 weeks by ultrasound. The sirenomelia fetus was complicated with a thoracic stenosis, enlarged rectum without anal opening, the absence of bilateral kidneys, a single umbilical artery, a single lower limb, the abnormal curvature of spine, double outlet of right ventricle, which were the indicatives of the chromosome detection.Diagnosis:The copy number variation of the sirenomelia fetus was detected as a deletion of 4.8Mb in 11p11.12-11q11. The co-twin was found with del(Y)(q11.223q11.23), which was as the same as his father''s. The mother had normal chromosome. The parents had normal phenotypes. It was firstly reported a microdeletion with sirenomelia fetus.Interventions:There was no specific treatments for the twins.Outcomes:Intrauterine death of the sirenomelia fetus was found at 27 weeks and postnatal death after inevitable abortion happened to the co-twin.Lessons:Prenatal ultrasound was responsible for recognizing sirenomelia, and the detailed ultrasound scanning and chromosome detection should be done for the co-twin. The etiology of sirenomelia remains unclear, and genetic detection is also necessary for its pathogenesis research.     

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...     

贵州地区汉族居民糖尿病患病情况及相关危险因素研究

目的 了解贵州地区汉族居民空腹血糖水平,分析糖尿病相关危险因素。方法 采用多阶段整群抽样方法,选取20～80岁汉族居民进行调查。调查内容包括问卷调查、体格检查和实验室检测。比较城乡不同年龄、性别人群空腹血糖水平和糖尿病相关危险因素。结果 共纳入研究对象2 967人,城镇居民空腹血糖平均值高于农村(5.21 mmol/L vs. 5.03 mmol/L,P< 0.001),男性高于女性(5.23 mmol/L vs. 5.09 mmol/L,P=0.003),血糖水平有随年龄增长的趋势(P< 0.001)。城镇居民糖尿病标化患病率为6.01%(粗率7.45%),其中男性显著高于女性(P< 0.001),随年龄增长患病率升高。农村居民标化患病率为3.47%(粗率3.77%),性别差异无统计学意义,随年龄增长患病率升高。相同年龄性别下,≥40岁城镇居民患病率高于农村居民。糖尿病患者中知晓率为56.59%,治疗率为84.47%,控制率为41.38%。多因素分析显示,男性发病风险高于女性、年龄≥40岁发病风险升高、有糖尿病家族史、经常进行身体锻炼、高血压、高甘油三酯者糖尿病的发病风险增加。结论 贵州汉族居民糖尿病患病率较高,城乡患病率差异大,半数以上糖尿病患者治疗后血糖未达到控制水平,糖尿病知晓率、治疗率及控制率仍需进一步提高。     

硒结合蛋白1通过抑制超氧化物歧化酶增强奥沙利铂的细胞毒作用

目的:探讨人硒结合蛋白1(SBP1)在结直肠癌DLD-1细胞中的表达水平对超氧化物歧化酶(SOD)的影响及其引起的DLD-1细胞对奥沙利铂的敏感性变化,揭示SBP1的部分抗肿瘤作用机制。方法:MTS法检测不同浓度奥沙利铂处理SBP1siRNA或SOD1siRNA转染细胞后的细胞存活率,CuZn/Mn-SOD活性检测试剂盒检测SBP1siRNA转染对DLD-1细胞SOD酶活性的影响;实时荧光定量PCR检测下调SBP1后,SOD1和SOD2mRNA水平的变化;Western blot法检测下调SBP1或SOD1后DLD-1细胞内SBP1、SOD1及SOD2蛋白水平的变化;超氧化物阴离子荧光探针DHE染色法检测抗肿瘤药物引起的细胞内超氧化物阴离子的水平。结果:下调SBP1后,奥沙利铂对DLD-1细胞的毒性作用[半数毒性浓度IC50为(36.7±1.6)μmol/L]相比对照组[IC50为(17.5±0.8)μmol/L]明显减小(P<0.05);同时下调SBP1和SOD1后,奥沙利铂对DLD-1细胞的毒性作用[IC50为(16.8±1.0)μmol/L]相比对照组[IC50为(17.3±1.2)μmol/L]无明显变化(P>0.05);下调SBP1分别在转录水平、蛋白水平及酶活性水平上调了SOD,并减少了由奥沙利铂引起的DLD-1细胞内产生的超氧阴离子。结论:下调SBP1能上调SOD的水平,进而减小了奥沙利铂对DLD-1细胞的毒性作用,故SBP1能通过抑制SOD增强奥沙利铂对DLD-1细胞的毒性作用。