Association of serum levels and receptor genes BsmI,TaqI and FokI polymorphisms of vitamin D with the severity of multiple sclerosis

PurposeMultiple sclerosis (MS) is a chronic inflammatory and neurodegenerative disease. Vitamin D has a major role in preventing inflammatory disorders. Therefore, any alteration in vitamin D receptor (VDR) might be a genetic risk factor for MS development. This study aimed to evaluate the effect of serum levels and VDR FokI, BsmI, and TaqI gene polymorphisms on the severity of MS.MethodsThis case-control study recruited 160 MS patients (71.9% females, mean age of 34.3 ± 8.3 years) and 162 (66.7% females, mean age 35.4 ± 7.9 year) age, sex, and ethnicity matched healthy controls. FokI (rs2228570), BsmI (rs1544410), and TaqI (rs731236) polymorphisms were carried out using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Demographic, clinical parameters, and the levels of vitamin D were compared between groups.ResultsWe found that the frequency of FokI and TaqI polymorphisms significantly differed between the patients and the controls (p = 0.0127 and p = 0.0236, respectively). The MS patients had low levels of vitamin D compared to the controls (p = 0.011). In addition, TaqI T/C polymorphism significantly decreased the levels of vitamin D in the MS patients (p = 0.002). However, there was no significant association between FokI or BsmI SNPs and the levels of vitamin D in MS patients (p > 0.5).ConclusionOur results suggest that FokI and TaqI polymorphisms of VDR are associated with MS risk and TaqI polymorphism is associated with Vitamin D levels in MS patients. Meanwhile, no difference was observed between VDR gene polymorphisms and any types of MS.     

Undetected anomalies in foetuses with a prenatal diagnosis of isolated cleft

The aim of this study was to determine the rate of undetected additional anomalies following a prenatal diagnosis of isolated oral cleft. Data of all infants with a prenatal diagnosis of isolated oral cleft born between 2000 and 2015 were studied retrospectively. Additional anomalies detected after birth were categorized as minor or major and included structural and chromosomal anomalies. Isolated clefts of the lip (CL), lip and alveolus (CLA) and lip, alveolus, and palate (CLAP) were diagnosed prenatally in 176 live-born infants. The type of cleft was more extensive after birth in 34/176 (19.3%) and less extensive in 16/176 (9.1%) newborns. Additional anomalies were diagnosed in 24 infants (13.6%), of which 12 (6.8%) were categorized as major. The latter included two submicroscopic chromosome anomalies and two gene mutations. Postnatal additional anomalies occurred more frequently in CLA and CLAP than in CL, and more in bilateral than in unilateral clefts. Major anomalies are still found in infants with a prenatal diagnosis of an isolated oral cleft. The prevalence of additional anomalies seems to be related to the type and bilaterality of the cleft, and this should be considered during prenatal counselling.     

Wire loop sinus membrane elevator: a novel instrument for lateral window sinus lift

This technical note introduces a novel instrument to facilitate lateral window sinus membrane elevation. The fabrication and use of the instrument are reported. The features of this instrument include easy control, good tactile sensation, flexibility in adjusting the instrument, and simple to replicate. Since its introduction, it has been the preferred instrument of our implant surgical trainees. Most importantly, it has proved to be an invaluable teaching tool, as it has helped not only to boost trainee confidence in the procedure, but also in their use of other sinus elevation instruments.     

腰椎管狭窄症减压固定融合术后远期疗效及其影响因素分析

目的:探讨腰椎管狭窄症减压固定融合术后远期疗效及其影响因素。方法:2002年1月~2006年12月因腰椎管狭窄症在我院骨科腰椎组行减压固定融合术的北京地区患者共计456例,其中回院随访118例。男性54例,女性64例;手术时年龄31~74岁,平均55.7岁;随访58~120个月,平均84.6个月。术前腰痛VAS评分为6.64±3.07分,腿痛VAS评分为7.40±2.78分,JOA评分为8.16±6.58分,ODI评分为30.55±11.30分。末次随访时,进行腰腿痛VAS、JOA、ODI评分,按Fischgrund标准判定疗效;行腰椎X线片及MRI检查观察手术区域的情况及相邻节段退变的情况。并将年龄、性别、体重指数、病程长短、跛行距离、术前下肢麻木、术前VAS和JOA及ODI评分、既往腰椎手术史、合并症、融合方式、融合固定节段长短、术后相邻节段退变情况等可能影响疗效的因素分别与末次随访时的腰腿痛VAS、ODI评分进行多元线性回归分析,分析影响疗效的相关因素。结果:末次随访时,腰痛VAS评分为4.06±3.70分,腿痛VAS评分为4.90±3.40分,JOA评分为19.98±14.0分,ODI评分为13.67±8.56分,与术前比较均有统计学差异(P0.05);疗效评定,优21例,良60例,可28例,差9例,优良率为74.6%。末次随访时,X线片、MRI检查发现5例患者螺钉周围出现透亮线,2例明确出现螺钉松动,1例植骨区可疑未融合,1例出现横突植骨区骨吸收;71例相邻节段出现退变,退变率为60.2%,有症状的相邻节段退变13例(11.0%)。多元线性回归分析显示:性别与术后腰痛VAS评分显著相关,既往腰椎手术史、术前下肢麻木与术后腿痛VAS评分显著相关,年龄与术后ODI评分显著相关(P0.05);合并症、体重指数、跛行距离、术前VAS与JOA及ODI评分、融合节段长短、融合方式和术后相邻节段退变等因素对术后远期疗效无影响(P0.05)。结论:腰椎管狭窄症减压固定融合术后远期疗效较满意,性别、年龄、既往腰椎手术史、术前下肢麻木可能是影响远期疗效的因素。     

Mowat–Wilson syndrome: the first report of an association with central nervous system tumors

Mowat–Wilson syndrome (MWS) is a rare genetic condition where variable and multiple congenital anomalies including Hirschsprung's disease, intellectual disability, and prominent facial features are present. At molecular level, MWS is characterized by many different described mutations in the zinc finger E-box protein 2 (ZEB2) gene, ultimately leading to loss of gene function. This report is the first to describe the association of MWS with two different asynchronous malignant brain tumors (medulloblastoma and glioblastoma) occurring in a child.     

Higenamine as a Potential Pharmacologic Stress Agent in the Detection of Coronary Artery Disease

Myocardial perfusion imaging (MPI) is valuable for the diagnosis, prognosis, and management of coronary artery disease (CAD). The most commonly used pharmacologic stress agents at present are vasodilators and adrenergic agents. However, these agents have contraindications and may cause adverse effects in some patients. Thus, other stress agents feasible for more patients are required. Higenamine (HG) is a β-adrenergic receptor agonist currently approved for clinical trials as a stress agent for myocardial infarction. It also has a promising value in MPI for the detection of CAD in preclinical and clinical studies. This review summarizes the application of HG on MPI, including its mechanism of action, stress protocol, efficacy, and safety.     

艰难梭菌毒素及其检测方法研究进展

]黄褐斑是一种多因素作用诱发的慢性色素性皮肤病。黑色素合成活跃及皮损处炎症反应是其主要特点,因此黑色素合成、炎症、氧化应激成为黄褐斑治疗的期望靶点。本文从抑制黑色素合成、抗炎及抗氧化应激方面进行综述。