改良重睑成形治疗老年性上睑皮肤松弛伴睑内翻倒睫

目的：探讨改良重睑成形术治疗老年性上睑皮肤松弛伴上睑内翻倒睫的临床疗效。方法：62例124眼上睑内翻倒睫患者行改良重睑成形术,上睑采用不等边梯形设计去除多余的皮肤,用5-0丝线在眼睑中、外、内分别作3根固定缝线,悬挂睑板上;伴睑板瘢痕性增厚者联合HOTZ法,在上睑缘内唇上约3mm处做与睑缘平行的宽约2～3mm楔形条状睑板部分切除。结果：随访0.5～1年,最长观察两年,重睑形态自然,未见倒睫复发。结论：这种改良的联合术式达到了较好的美容效果,解决了倒睫带来的不适。     

Cervical ossification of the posterior longitudinal ligament: Biomechanical analysis of the influence of static and dynamic factors

Objective

Cervical myelopathy due to ossification of the posterior longitudinal ligament (OPLL) is induced by static factors, dynamic factors, or a combination of both. We used a three-dimensional finite element method (3D-FEM) to analyze the stress distributions in the cervical spinal cord under static compression, dynamic compression, or a combination of both in the context of OPLL.

Methods

Experimental conditions were established for the 3D-FEM spinal cord, lamina, and hill-shaped OPLL. To simulate static compression of the spinal cord, anterior compression at 10, 20, and 30% of the anterior–posterior diameter of the spinal cord was applied by the OPLL. To simulate dynamic compression, the OPLL was rotated 5°, 10°, and 15° in the flexion direction. To simulate combined static and dynamic compression under 10 and 20% anterior static compression, the OPLL was rotated 5°, 10°, and 15° in the flexion direction.

Results

The stress distribution in the spinal cord increased following static and dynamic compression by cervical OPLL. However, the stress distribution did not increase throughout the entire spinal cord. For combined static and dynamic compression, the stress distribution increased as the static compression increased, even for a mild range of motion (ROM).

Conclusion

Symptoms may appear under static or dynamic compression only. However, under static compression, the stress distribution increases with the ROM of the responsible level and this makes it very likely that symptoms will worsen. We conclude that cervical OPLL myelopathy is induced by static factors, dynamic factors, and a combination of both.     

Human Temporal Bone Removal: The Skull Base Block Method

Objectives To describe a technique for harvesting larger temporal bone specimens from human cadavers for the training of otolaryngology residents and fellows on the various approaches to the lateral and posterolateral skull base. Design Human cadaveric anatomical study. The calvarium was excised 6 cm above the superior aspect of the ear canal. The brain and cerebellum were carefully removed, and the cranial nerves were cut sharply. Two bony cuts were performed, one in the midsagittal plane and the other in the coronal plane at the level of the optic foramen. Setting Medical school anatomy laboratory. Participants Human cadavers. Main Outcome Measures Anatomical contents of specimens and technical effort required. Results Larger temporal bone specimens containing portions of the parietal, occipital, and sphenoidal bones were consistently obtained using this technique of two bone cuts. All specimens were inspected and contained pertinent surface and skull base landmarks. Conclusions The skull base block method allows for larger temporal bone specimens using a two bone cut technique that is efficient and reproducible. These specimens have the necessary anatomical bony landmarks for studying the complexity, utility, and limitations of lateral and posterolateral approaches to the skull base, important for the education of otolaryngology residents and fellows.     

Percutaneous epiphysiodesis using transphyseal screws for limb-length discrepancies: high variability among growth predictor models

Purpose

Percutaneous epiphysiodesis using transphyseal screws (PETS) was developed as a minimally invasive outpatient procedure to address limb-length discrepancy (LLD) that allowed immediate postoperative weight bearing and was potentially reversible by removing the screws. The aims of our study were to report our results using PETS for LLD and evaluate the accuracy of three growth predictor models.

Methods

Sixteen patients with an average age of 14 years were treated for LLD using PETS. Thirteen patients had screws inserted in a parallel fashion and 3 had crossed screws. We compared the predicted LLD at skeletal maturity using the three growth predictor methods with the actual LLD at skeletal maturity and preoperative LLD with the final LLD at skeletal maturity.

Results

The mean LLD at skeletal maturity between the predicted and final measurements was 0.2 cm using the Green−Anderson method, 1.4 cm using the Moseley method, and −0.1 cm using the Paley method. The mean preoperative LLD of 3.1 cm was corrected to 1.7 cm at skeletal maturity (p < 0.001). Six patients complained of pain over the screw heads; however, no patient developed an infection or angular deformity.

Conclusions

The three growth predictor methods predicted the final LLD within an average of 1.4 cm, but there was high variability. Although PETS improved the LLD by a mean of 1.4 cm, we believe the results would have been better if PETS was performed at an earlier skeletal age.     

快速水分测定法测定光慈姑药材水分含量

目的:考察快速水分测定法的影响因素,为其替代烘干法测定光慈姑药材的水分含量提供科学依据。方法:通过研究光慈姑药材的粒度、测定温度及样品质量,得出最优快速水分测定条件,并在最优条件下与烘干法测定结果进行对比。结果:快速水分测定法在最优条件粒度80目以下、温度155℃、样品质量3.0 g,所测光慈姑药材水分与烘干法差异无统计学意义。结论:快速水分测定法操作简便、测定迅速,可替代烘干法测定光慈姑药材的水分含量。     

贺氏火针温通法治疗肱骨外上髁炎临床观察

目的 观察贺氏火针温通法对肱骨外上髁炎的疗效。方法 收集2014年1月至2014年12月首都医科大学附属北京中医医院针灸科肱骨外上髁炎患者60例,按就诊顺序将患者分为治疗组和对照组,每组30例。对照组每日毫针刺肘髎、曲池、手三里、合谷穴,治疗组加用贺氏火针隔日点刺阿是穴,两组均连续治疗10 d。以疼痛视觉模拟量表（visual analogue scale,VAS）、Mayo肘关节功能评分表（mayo elbow performance score,MEPS）为观察指标,判定临床疗效。结果 与治疗前比较,治疗后两组VAS评分均显著降低（P<0.05）,MEPS评分均显著升高（P<0.05）,治疗组VAS评分降低值和MEPS评分升高值均显著大于对照组（P<0.05）。结论 贺氏火针温通法可有效缓解肱骨外上髁炎的疼痛程度,改善肘关节功能。     

老年人前牙慢性根尖炎一次法根管治疗术的疗效观察

目的：观察一次法根管治疗术对老年人前牙慢性根尖炎的疗效。方法：前牙慢性根尖炎老年患者80例,40例采用一次法根管治疗术治疗,40例采用传统多次法根管治疗术治疗,记录两组术后（多次法为第一次术后）24 h、第7天患牙疼痛发生率、同时采集患者上述两时点静脉血2 mL,采用Sysmex全自动血球分析仪检测白细胞（ WBC）计数,散射比浊法测定血清C-反应蛋白（ CRP）,观察患牙疼痛发生率、WBC计数、CRP变化及1年后患牙临床疗效。结果：两组患者术后24 h、第7天患牙疼痛发生率、WBC计数、CRP检测比较,差异无统计学意义（P>0.05）,1年后临床疗效的评定两组比较,差异无统计学意义（P>0.05）。结论：一次法根管治疗术在老年人前牙慢性根尖炎手术治疗效果与传统多次法相当,值得临床推广。     

丁香茄挥发油成分GC-MS分析

目的分析丁香茄中挥发油的化学成分。方法采用水蒸气蒸馏法提取丁香茄中挥发油,用GC-MS法测定和分析其化学组分。结果共鉴定了19个成分,占总峰面积的96%,按相对峰面积计,其中含亚油酸为62.8%,总脂肪酸和其他酯约占72%。结论丁香茄挥发油的主要成分为脂肪酸,为开发利用丁香茄资源提供了实验依据。     

目标导向教学法在窝沟封闭技术实验课教学中的应用

目的 探讨目标导向教学法在口腔预防医学窝沟封闭技术实验室教学过程中的应用效果.方法 将昆明医科大学口腔医学院2008级本科学生68人中随机抽20为实验组,在窝沟封闭技术的实验室教学中采用目标导向教学法教学,20人为对照组,采用传统教学方法进行,在两种教学方法后进行窝沟封闭技术实验室操作和相关窝沟封闭技术问卷调查的比较.结果 实验组学生在窝沟封闭技术实验室操作和相关窝沟封闭技术问卷调查对结果优于对照组(P＜ 0.05,检验有差异性).结论 目标导向教学法在口腔医学临床技能实验室教学中可巩固口腔医学生的理论基础,同时与临床技能有机结合,起到教学相长的效果     

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants of this evolutionary process in human genes underlying monogenic diseases by comparing various negative selection scores and an integrative approach, CoNeS, at 366 loci underlying inborn errors of immunity (IEI). We find that genes underlying autosomal dominant (AD) or X-linked IEI have stronger negative selection scores than those underlying autosomal recessive (AR) IEI, whose scores are not different from those of genes not known to be disease causing. Nevertheless, genes underlying AR IEI that are lethal before reproductive maturity with complete penetrance have stronger negative selection scores than other genes underlying AR IEI. We also show that genes underlying AD IEI by loss of function have stronger negative selection scores than genes underlying AD IEI by gain of function, while genes underlying AD IEI by haploinsufficiency are under stronger negative selection than other genes underlying AD IEI. These results are replicated in 1,140 genes underlying inborn errors of neurodevelopment. Finally, we propose a supervised classifier, SCoNeS, which predicts better than state-of-the-art approaches whether a gene is more likely to underlie an AD or AR disease. The clinical outcomes of monogenic inborn errors, together with their mode and mechanisms of inheritance, determine the levels of negative selection at their corresponding loci. Integrating scores of negative selection may facilitate the prioritization of candidate genes and variants in patients suspected to carry an inborn error.

Negative (or purifying) selection is the natural process by which deleterious alleles are selectively purged from the population (1). In diploid species, the strength of negative selection at a given locus is predicted to increase with decreasing fitness and increasing dominance of the genetic variants controlling traits: Variation causing early death in the heterozygous state are the least likely to be transmitted to the next generation, as their carriers have fewer offspring than noncarriers (2). Human genetic variants that cause severe diseases are, thus, expected to be the primary targets of negative selection, particularly for diseases affecting heterozygous individuals. In humans, several studies have ranked protein-coding genes according to their levels of negative selection (3–5). Nevertheless, the extent to which negative selection affects human disease-causing genes, and the factors determining its strength, remain largely unknown, particularly because our knowledge of the severity, mode, and mechanism of inheritance of the corresponding human diseases remains incomplete (3, 6–8).The strength of negative selection at a given gene has been traditionally approximated by comparing the coding sequence of the gene in a given species with that of one or several closely related species; it depends on the proportion of amino acid changes that have accumulated during evolution (9–11). With the advent of high-throughput sequencing, intraspecies metrics have been developed, based on the comparison of the probability of predicted loss-of-function (pLOF) mutations for a gene under a random model with the frequency of pLOF mutations observed in population databases (5, 12, 13), which capture the species-specific evolution of genes. Using an interspecies-based method and a hand-curated version of the Online Mendelian Inheritance in Man (hOMIM) database, a previous study elegantly showed that most human genes for which mutations cause highly penetrant diseases, including autosomal dominant (AD) diseases in particular, evolve under stronger negative selection than genes associated with complex disorders (6). However, other studies based on OMIM genes have reported conflicting results (3, 14–17), probably due to the incompleteness and heterogeneity of the datasets used. Moreover, no study has yet addressed this problem with intraspecies metrics, even though it has been suggested that the choice of the reference species for interspecies metrics contributes to discrepancies across studies (6).We aimed to improve the identification of the drivers of negative selection acting on human disease-causing genes, by developing a negative selection score combining several informative intraspecies and interspecies statistics, focusing on inborn errors of immunity (IEI). IEI, previously known as primary immunodeficiencies (18), are genetic diseases that disrupt the development or function of human immunity. They form a large and expanding group of genetic diseases that has been widely studied, and they are well characterized physiologically (immunologically) and phenotypically (clinically) (19–21). IEI are often symptomatic in early childhood, and at least until the turn of the 20th century and the introduction of antibiotics, most individuals with IEI probably died before reaching reproductive maturity. Accordingly, IEI genes have probably been under strong negative selection from the dawn of humankind until very recently. In this study, we investigated whether the severity of IEI and their mode and mechanism of inheritance have left signatures of negative selection of various intensities in the corresponding human genes. Furthermore, we validated our model on genes underlying inborn errors of neurodevelopment (IEND), another group of well-characterized severe genetic diseases.