Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s
disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were
divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal
controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations
of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further
sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new
missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were
found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin
point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese.
WANG Tao, male, born in 1961, Associate Professor
This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency
of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial
No. WJ 01529). 相似文献
The Physical Capacity Evaluation, a performance measure of functional capabilities comprised of 13 tasks simulating those used in activities of daily living, was tested on 289 community-dwelling elderly people and compared against a widely used self-report measure of function, the Health Assessment Questionnaire. Factor analysis identified one dominant component in each instrument. Internal consistency reliability (Cronbach's alpha) was .90 for both instruments. Global disability (Health Assessment Questionnaire) and function (Physical Capacity Evaluation) scores were correlated -.74. One-week retest reliabilities on 58 subjects were .94 for the Physical Capacity Evaluation and .95 for the Health Assessment Questionnaire. The Physical Capacity Evaluation is a valid and reliable measure of physical performance for use with elderly people. 相似文献
BACKGROUND: Chronic renal failure (CRF) is associated with an atherogenic
lipid profile and an increased risk of ischaemic cardiovascular disease.
The associated hyperlipidaemia is reportedly ameliorated by erythropoietin
(Epo) therapy. According to a recent report, rats studied 3 weeks after 5/6
nephrectomy and fed a high- protein diet exhibited increased activities of
hepatic HMG-CoA reductase (HMG-CoAR) and cholesterol 7 alpha-hydroxylase
(Ch-7 alpha- H), despite normal corresponding mRNA values. DESIGN AND
METHODS: This study was designed to examine the effects of naturally
progressing CRF of longer duration as well as those of Epo therapy on gene
expressions of the key factors involved in hepatic cholesterol metabolism,
i.e., LDL receptor (LDLR), HMG-CoAR, and Ch-7 alpha-H. Sprague-Dawley rats
were randomized to the CRF group (5/6 nephrectomy), Epo-treated CRF group
(given Epo 150 U/kg/twice weekly) and sham-operated, placebo- treated
normal controls. They were allowed free access to regular rat chow and
studied 6 weeks after surgery. Liver mRNAs and protein mass or activities
of the above factors were studied. RESULTS: Plasma cholesterol
concentration was significantly increased in the CRF group (P < 0.001)
and was modestly lowered (P < 0.05) by Epo therapy. However, microsomal
cholesterol concentration and LDLR, HMG-CoAR, and Ch-7 alpha-H mRNA as well
as HMG-CoAR activity, and Ch-7 alpha-H and LDLR protein mass measurements
were virtually identical in the three groups. Thus, hepatic LDLR, HMG-CoAR,
and Ch-7 alpha-H mRNA and protein measurements in rats with CRF were
similar to those of the normal control group representing an inappropriate
response to the associated hypercholesterolemia. Epo therapy led to partial
amelioration of CRF- associated hypercholesterolaemia with no discernible
effect on hepatic tissue expression of the above factors.
相似文献
Background: For local anesthetics, the process of removal from the site of administration influences the duration of anesthesia and the risk for systemic toxicity to develop. The systemic absorption of epidural ropivacaine and the time profile of sensory and motor block were studied in healthy volunteers.
Methods: Nine persons simultaneously received 150 mg ropivacaine hydrochloride (7.5 mg/ml) epidurally and 40 mg deuterium-labeled (sup 2 H sub 3)ropivacaine hydrochloride (0.25 mg/ml) intravenously. Peripheral arterial and venous plasma samples were collected, and assessments of sensory and motor block were made.
Results: The arterial plasma concentrations increased faster than the venous concentrations, with 50% higher maximum concentrations after both intravenous and epidural administration. The absorption was biphasic. A correlation was seen between the duration of sensory block and the slower absorption half-life; that is, the longer the half-life, the longer the duration. The extent of spread varied among the volunteers, with the median upper block level not exceeding T12. The motor block (Bromage score 1) was of slower onset (median, 0.4 h) and of shorter duration (median, 4.1 h) than the sensory block (onset, 0.2 h; duration, 6.5 h at L2 medians). 相似文献
Open reduction combined with external compressive skeletal fixation was used to treat twenty-seven patients who had a separated fracture of the patella. Fixation was obtained by the use of two compressive clamps applied to stainless-steel pins that were inserted just proximal and distal to the proximal and distal poles of the patella. Range-of-motion exercises for the knee were begun at two weeks and the pins were removed at three to four weeks. All of the fractures healed. Twenty-four patients regained a range of motion that was equal to that of the opposite knee. There was no evidence of chronic osteomyelitis. Osteoarthritis was noted in one patient who refused excision of a portion of the patella. 相似文献
It has been suggested that gains of chromosomes 7 and 17 and loss of Y occur in renal papillary adenoma and that progression to papillary renal cell carcinoma is marked by gains of additional chromosomes, most frequently 12, 16, and 20. Previous studies have included very few lesions of <5 mm in diameter, a requirement of the present definition of papillary adenoma. Ten papillary adenomas (ranging from 1 to 5 mm in diameter) from autopsy material and 10 surgically resected papillary renal cell carcinomas were studied with fluorescence in situ hybridization in paraffin sections using centromeric probes for chromosomes 7, 12, 16, 17, 20, and Y diluted 1:100 with tDenHyb1 buffer. The signals in 50 to 150 nuclei were counted in each tumor. Controls for all the probes were normal renal tissues from the same patients. Three or more signals per nucleus were frequently observed in papillary adenomas: chromosome 7 (range, 10 to 50%; > or = 30% in 9 of 10), 17 (range, 10 to 47%; > or = 30% in 7), 16 (range, 1 to 63%; > or = 10% in 5), 12 (range, 0 to 32%; > or =10% in 4), and 20 (range, 5 to 49%; > or = 10% in 5). Loss of the Y chromosome was observed in 80 to 90% of nuclei in 9 adenomas from males. Three or more signals were frequent in papillary renal cell carcinomas: chromosome 7 (range, 32 to 63%; > or =30% in 10 of 10), 17 (range, 28 to 61%; > or = 30% in 7), 16 (range, 0 to 45%; > or = 10% in 6), 12 (range, 1 to 37, > or = 10% in 5), 20 (range, 2 to 44%; > or = 10% in 4). No signal for Y was observed in 12 to 88% (> or = 81% in 6) of nuclei in 7 carcinomas from males. Statistical analysis showed no difference between adenomas and carcinomas. Gains of chromosomes 7, 17, 16, 12, and 20 and loss of the Y chromosome occur early in the evolution of papillary renal cell neoplasia in tumors that are only a few millimeters in diameter. Progressive gains of these chromosomes do not appear to correlate with the transition from adenoma to carcinoma. 相似文献
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired chronic hemolytic anemia associated with an unusual susceptibility to hemolytic crisis, infection, and venous thrombosis which would be aggravated by a number of factors including surgery. We report a case of PNH undergoing percutaneous transluminal coronary angioplasty and discuss the corresponding perioperative management. 相似文献
Twenty-seven in-patients with obstetric DIC in our hospital from Jan. 1971 to Dec. 1990 were analysed retrospectively. The incidence was 0.12% in the first decade and 0.02%, in the second, showing a difference of significance between them. The most common predisposing factors included amniotic fluid embolism, abruptio placenta and hemorrhagic shock. Bleeding from multi-organs in various extent and coagulation disorders occurred in all those 27 cases. [Besides anti-shock treatment, heparin was employed together with fibrinogen in 4 postpartum and 1 antepartum DIC patients, fibrinogen alone in 8 cases, and hysterectomy in 11 cases. 17 patients were saved and 9 died. It is important that early diagnosis and much attention paid to clinical characteristics together with serial laboratory tests. Key management should include prompt treatment and eradication of predisposing factors. Quick decision spite of to terminate the pregnancy and even hysterectomy should be done in some risks. 相似文献