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.     

存样食物在追查食物中毒源头中的作用

[目的]针对食物中毒事件追查源头的困难局面,探索1种新的食物中毒追查方法。[方法]通过分析各种常见类型食物中毒的潜伏期,结合各种实际情况,探讨存样食物保存的时间和方法。[结果]存样食物至少要保存24h。[结论]这种存样待检方法有其先进性,但仍存在不少问题,需进一步改进。     

Treatment of the dumping syndrome with the somatostatin analogue SMS 201-995.

In six patients suffering from severe early dumping and six patients with late dumping after peptic ulcer surgery, the effect of the somatostatin analogue SMS 201-995 was compared with placebo. In early dumpers subcutaneous administration of 50 micrograms SMS 201-995 prior to meal ingestion induced a strong improvement of dumping symptoms as reflected by a decrease of the Sigstad dumping score from 12 +/- 2 during placebo to 5 +/- 2 (p less than 0.05). Furthermore, the postprandial increase of pulse rate was abolished; maximum pulse rate decreased from 85 +/- 7 beats/min to 67 +/- 7 beats/min (p less than 0.05). SMS 201-995 did not significantly affect postprandial changes in packed cell volume. In late dumpers 50 micrograms SMS 201-995 reduced peak plasma insulin after oral glucose from 173 +/- 16 mU/L during placebo to 35 +/- 9 mU/L during SMS 201-995 (p less than 0.05) and increased individual plasma glucose nadirs from 1.9 +/- 0.3 mmol/L to 7.5 +/- 3.3 mmol/L (p less than 0.01). Both in early and late dumpers SMS 201-995 improved postprandial expiratory breath hydrogen excretion indicating slowing of gastrointestinal hurry. SMS 201-995 is a powerful therapeutic agent for the management of patients suffering from the dumping syndrome after gastric surgery.     

中药口服与灌肠配合氦-氖激光治疗老年人慢性肾功能衰竭临床观察

观察调中益肾活血通腑中药口服与灌肠配合低能量氦 -氖激光血管内照射(ILIB)疗法对老年人慢性肾功能衰竭 (CRF)的疗效。治疗组予中药口服与灌肠配合ILIB疗法 ,并与阳性对照药依那普利作比较。结果 :两组病例在Scr、BUN、尿蛋白方面均有显著降低 ,但治疗组在改善临床症状、提高红细胞SOD及血浆免疫球蛋白方面均优于对照组。结论 :调中益肾活血通腑中药口服与灌肠配合ILIB疗法具有明显改善老年CRF的肾功能、调整胃肠机能、提高机体免疫能力的作用。     

Aluminium speciation in cerebrospinal fluid of acutely aluminium-intoxicated dialysis patients before and after desferrioxamine treatment; a step in the understanding of the element's neurotoxicity

Background: The association between aluminium and dialysis encephalopathy and deterioration of the neurological state during desferrioxamine treatment of dialysis patients is well established. At present little is known about the speciation and the mechanisms underlying the element's neurotoxicity. Methods. Aluminium speciation was performed in cerebrospinal fluid samples of acutely aluminium-intoxicated dialysis patients using a recently developed high-performance liquid chromatographic/electro-thermal atomic absorption spectrometric hybrid method. Results: Baseline cerebrospinal fluid aluminium levels of samples taken shortly after the intoxication were low but elevated (5.0±2.0 &mgr;g/l, n=3) as compared to subjects with normal renal function (<1 &mgr;g/l). In contrast to the situation noted in serum and to the iron speciation in cerebrospinal fluid, aluminium was not bound to transferrin but appeared as two distinct compounds, the main fraction eluting at the elution volume of aluminium citrate/silicate. The second compound was not identified. Forty-four hours after desferrioxamine administration the cerebrospinal fluid aluminium levels had increased up to a concentration of 10.3±2.5 &mgr;g/l (n=3). This was accompanied by a change in the speciation profile with aluminium appearing at the elution volume of aluminoxamine. Conclusion: Our findings may contribute to a better understanding of the neurotoxic effects of aluminium and its desferrioxamine chelate in dialysis patients.     

Evolution of the sperm aster after microinjection of isolated human sperm centrosomes into meiotically mature human oocytes

This study examined the feasibility of isolating and transferringthe centrosome-containing region of spermatozoa to mature humanoocytes. The findings demonstrate that individual sperm centrosomescan be transferred and are capable of nucleating maternal tubulinto form a well-developed sperm aster in the recipient oocyte.The results are discussed with respect to centrosome functionin early human development and applications in clinical in-vitrofertilization in the treatment of certain forms of male factorinfertility.     

人体蠕形螨的生物学研究

用透明胶带法观察蠕形螨在人体面部的寄生、逸出及其在体外的存活能力。结果表明：毛囊蠕形螨（Ｄｅｍｏｄ－ｅｘｆｏｌｉｃｕｌｏｒｕｍ，Ｄ．ｆ．）主要以颚体朝向毛囊底部寄生，且常常有多条群居现象，而皮脂蠕形螨，（Ｄｅｍｏｄｅｘｂｒｅｖｉｓ，Ｄ．ｂ．）一般为单条独居生活。两种人体蠕形螨昼夜均可主动爬出毛囊口出现在皮肤表面，Ｄ．ｆ．以白天１０００～１８００为逸出高峰；Ｄ．ｂ．则以夜间２２００～２００逸出最多。此外，蠕形螨在体外有较强的活动力和存活力。透明胶带法在人体蠕形螨的流行病学调查和生物学研究方面具有较高的应用价值     

Transconjunctival reopening of an occluded filtration fistula with the Q-switched Neodymium-YAG laser

The Q-switched neodymium-YAG laser was used via a transconjunctival approach to reopen a failed filtering bleb, 6 weeks after a primarily successful trabeculectomy had failed. One day after treatment, the intraocular pressure had decreased from 34 mm Hg to 17 mm Hg, and a conjunctival bleb had reformed.