PINK1 mutations in sporadic early-onset Parkinson's disease.

Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population.     

胜利黄岛原油深度电脱盐的研究：Ⅰ.破乳剂组成的影响

根据胜利黄岛原油的性质，在筛选了几十种破乳剂的基础上，选择了酚醛树脂和环氧环烷，环氧乙烷的嵌段共聚物作破乳剂，探讨了破乳剂组成对原油脱水，脱盐以及界面张力的影响，通过静态脱盐，脱水试验，得到了适合黄岛原油的最佳破乳剂组成。     

《江西医学院学报》五年引文分析

对1986年－1990年《江西医学院学报》的引文进行了数理统计与分析，定量描述其引文的类型，文种，时序以及在被引期刊中的分布。测定了该刊引用文献的半衰期与核心期刊，并对论著及著者分布作了分析。     

环丙沙星滴耳液对内耳影响的研究

豚鼠中耳（听泡）内滴入０．５％、１％、２％环丙沙星与庆大霉素滴耳液７天或２１天，借助光镜和扫描电镜观察内耳的显微和超微结构变化。结果证明环丙沙星对内耳没有明显的毒性作用。庆大霉素则使耳蜗明显受损，以底回为重，Ｃｏｒｔｉ’ｓ器外毛细胞坏死较多，内毛细胞及支持细胞病变较轻。位觉斑耳石脱落，毛细胞纤毛粘连、脱落。壶腹嵴中央区纤毛也缺失。本实验对客观评价环丙沙星对内耳的作用及临床使用提供了形态学资料。     

Secondary closure of oroantral and oronasal fistulas: a modification of existing techniques

Fifty-three patients, 25 with oroantral and 28 with oronasal fistulas, were treated using a modified technique of peripheral de-epithelialization and overlapping flaps. This technique was used with sliding buccal flaps, palatal rotation flaps, palatal island flaps, tongue flaps, and distant tubed pedicle flaps. The advantage of the flap is that it provides more tissue attachment, which promotes healing and resists the tendency of the flap to return to its original position. A high degree of success can be predicted. Only two failures were observed in 53 cases.     

Transdermal Dual-Controlled Delivery of Contraceptive Drugs: Formulation Development,in Vitro and in Vivo Evaluations,and Clinical Performance

Several transdermal contraceptive device (TCD) formulations were developed to provide a dual-controlled transdermal delivery of levonorgestrel (LN), a potent progestin, and 17-estradiol (E₂), a natural estrogen. Using a sensitive HPLC method, the in vitro release and skin permeation profiles of LN and E₂ from various TCD formulations were simultaneously characterized in the hydrodynamically well-calibrated Valia–Chien skin permeation cells and both were found to follow zero-order kinetics. The rates of drug release and skin permeation were observed to vary significantly depending upon some formulation parameters. Six-month stability studies were performed on seven formulations at room and elevated temperatures (37 and 45°C), and two (Formulations 4 and 5) were found to be acceptable, based on drug recovery, release rate, and skin permeation rate data. Judging from the 6-month accelerated stability studies, it is projected these two formulations will have shelf-life of at least 2 years. As a result of development of an efficient manufacturing process, Formulation 4 was selected for further evaluation. One-week primary skin irritation evaluation in 6 rabbits indicated that Formulation 4 is nonirritating, and it was thus selected for Phase I clinical bioavailability/dose proportionality studies in 12 healthy female volunteers of child-bearing age. Results of pharmacokinetic and pharmacodynamic analyses demonstrated that it is capable of achieving and maintaining a steady-state serum level of LN throughout the 3-week treatment period by weekly applications of one or two TCD patches (10 or 20 cm²). A dose proportionality was obtained in the serum drug levels, daily dose delivered, and contraception efficacy. An excellent correlation was obtained for the rates of transdermal delivery determined by the in vitro studies using human cadaver skin, the in vivo studies in rabbits, and the clinical studies in living subjects.     

成人下凳骨第三磨牙阻生关系的研究

目的 观测成人下颌骨第三磨牙的阻生关系。方法 根据吴氏《人类骨骼测量方法》中规定的年龄估计及性别鉴定的标准,观测成人颌骨的形态结构。结果 302个下颌骨标本的观察结果为,男女混合阻生率为10.60％,女性阻生率高于男性,肉眼见无第三磨牙萌出者106例,经X线拍片验证,5例有埋没牙存在,故实际第三睡缺如率为33.44%。从测量数据可见阻生组（无第三磨牙组）的第二磨牙后间隙、下颌斜长、下颌体长及髁突间宽均较正常组小。结论 无第三磨牙可能是人类进化过程中,下颌骨与牙齿均衡退化的结果,而阻生是人类进化从有第三磨牙向第三磨牙演化的过渡阶段。     

79例小儿尸检病例的临床与病理诊断对照分析

９例小儿尸检病例的临床与病理诊断作对照分析。结果显示：１４例误诊,误诊率为１７７２％;在～２８ｄ,～５岁,～１０岁和～１４岁４个小儿年龄组中,新生儿组误诊率为２９６３％,明显高于其他年龄组（Ｐ＜０．０５）,且日龄越小误诊率越高;呼吸系统疾病是误诊的主要病种,占４２８６％;而年长儿的２例误诊均为结核病。提示对新生儿疾病诊断时,要详细了解围生期情况,积极寻找原发病;结核病对儿童的致命威胁应引起儿科医生的高度重视。