Adult ; Ataxin-1 ; Ataxins ; Female ; Humans ; Mutation ; Nerve Tissue Proteins ; genetics ; Nuclear Proteins ; genetics ; Spinocerebellar Ataxias ; genetics ; Trinucleotide Repeats

Objective To investigate abnormal glucose metablism of patients with stroke in hospital in Foshan in order to design more reasonable diagnostic and treatment plans.Methods Our study was conducted in 557 patients with stroke who were in hospital in Neurology Department of the First Hospital of Foshan from June 2007 to April 2008 (all were consistent with diagnostic criteria of stroke).Sex,age,history of diabetes mellitus and smoking,height,weight,blood pressure,waist circumference,random blood glucose,fasting blood glucose and oral glucose tolerance test of all were recorded when they were in hospital Results All 368 individuals (66.1%) had abnormal blood glucose,including 185 cases (33.2%) of diabetes,183 cases (32.9%) of impaired glucose tolerance and 189 cases (33.9%) of normal sugar tolerance.Furthermore,about 89.1% (189/368) cases with impaired glucose regulation and 14.1% (26/185) cases of diabetes were misdiagnosed if they did not undergo oral glucose tolerance test.Conclusions Most of patients with stroke in Foshan have impaired glucose regulation,who have been diagnosed by oral glucose tolerance test,in favour of us to better design more reasonable diagnostic and treatment plans.

Objective To compare the diagnostic efficiency between blastomere preimplantation genetic diagnosis (PGD) and polar body PGD for chromosomal translocation carriers. Methods Group A had 8 cycles using whole painting probes for the first polar body diagnosis, while group B had 29 cycles using two subtelomeric probes and one centromeric probe for the blastomere diagnosis. Results The fertilization rate of group A was significantly lower than group B [66. 1% (72/109) vs 85.2% (304/357) , P < 0.05]. There was no significant difference in the successful biopsy rate between two groups. However, group A had a significantly higher loss rate during fixation and higher no signal rate after fluorescence in situ hybridization [ FISH, 9. 6% (12/104) vs 1.6% (4/252), 11.2% (10/89) vs 3.0% (7/233) ]. Totally, the diagnostic efficiency in group A (72. 5% ,79/109 ) was significantly lower than that in group B( 89. 8%, 230/256, P < 0. 05 ). Although both the clinical pregnancy rate( 3/7 ) and implantation rate( 22. 2% ,4/18 ) of group A were higher, the differences were not statistically significant ( P > 0.05 ). Conclusion Both methods can be used efficiently in the PGD for chromosomal translocation carriers. Blastomere PGD has a higher diagnostic rate.

Objective To investigate influence of chromosomal translocations on early embryo development and to evaluate the efficacy and feasibility of preimplantation genetic diagnosis (PGD)techniques through clinical analysis on PGD cycles. Methods Embryo development, efficacy of PGD and clinical outcome of 100 cycles were studied retrospectively, including 23 cycles with Robertsonian translocations, 19 cycles with reciprocal translocations, and 58 cycles for α-Thalassaemia. Results Among 354 embryos biopsied by PGD for translocations, 321 (90. 7% ) presented fluorescence in situ hybridization (FISH) results. The rate of normal/balanced embryos in the Robertsonian translocation was 38. 3% (64/167),which was significantly higher than 20. 8% (32/154) in the reciprocal translocation group. Amplification was achieved in 443 blastomeres from 537 embryos in Thalassaemia group, which given to an amplification efficiency rate of 82. 5% ( 443/537 ). Totally, 140 normal homozygous, 112 heterozygotes and 155 affected homozygous embryos were identified, while 36 embryos had uncertain result. The successful diagnostic rate was 75.8% (407/537). After 3 days in the translocation groups, the rate of normal and/or balanced translocations in biopsed embryos with ≥7 cells was 34. 4% (77/224), which was significantly higher than 19. 6% ( 19/97 ) of biopsed embryos with ＜ 7 cells. After 4 days, the compaction rate in normal/balanced embryos was 59.4% ( 57/96 ), which was significantly higher than 34. 2% ( 77/225 ) in imbalanced embryos significantly. Seventy-five embryos transferred in 37 cycles with translocations group led to clinical pregnancy rate of 27.0% (10/37), and 170 embryos transferred in 58 cycles with Thalassaemia got a clinical pregnancy rate of 43. 1% ( 25/58 ) . Conclusions PGD can provide management efficiently for both chromosome translocations and Thalassaemia. Translocations might have slightly negative impact on embryo development before implantation.

AIM:To demonstrate the relationship between hormones in follicular fluid and the expression of LH receptor in granulosa cells(GC) in anovulatory women with polycystic ovary syndrome(PCOS).METHODS: Follicles were obtained from 12 women with PCOS and 15 women with normal menstrual period through surgery at time between day 7 and day 10 of menstrual cycle.The accumulations of estrogen(E2),progesterone(P),luteinizing hormone(LH),follicle stimulating hormone(FSH) and insulin in follicular fluid were determined by a automatism chemiluminescent microparticle immunoassay(CMIA) for the quantitative determination.The accumulation of androstenediol(A) was determined by ELISA.The amounts of the mRNA expressions of LH receptors from GC and theca cells(TC) respectively were measured by RT-PCR using ?-actin as intra-control simultaneously.RESULTS: The levels of LH [(3.8?2.1 vs 1.7?0.8)IU/L,P

Objective To detect the urinary albumin level and urinary albumin/urine creatinine ratio in patients with acute cerebral infarction and explore their relations with NEW-TOAST typing.Methods One hundred and sixty-eight patients with acute cerebral infarction,admitted to our hospital from March 2011 to March 201,were chosen in our study; and other 45 healthy subjects were used as controls; according to NEW-TOAST typing,the patients were divided into different subgroups.Their clinical data were retrospectively analyzed; the 24 hour urinary albumin level and urinary albumin/urine creatinine ratio were detected and their relation was analyzed between patient group and controls,and between patients of different subtypes; besides,the correlation of neurologic impairment (NIHSS) scores with urinary albumin/urine creatinine ratio was analyzed.Results The 24 hour urinary albumin level and urinary albumin/urine creatinine ratio was positively correlated (r=0.301,P=0.001); according to the NEW-TOAST subtypes,patients with large artery atherosclerosis and small artery occlusion had significantly higher level of 24 hour urinary albumin level and urinary albumin/urine creatinine ratio (P＜0.05).NIHSS scores and urinary albumin/creatinine ratio in patient group were positively correlated (r=0.215,P=0.001).Conclusion Acute cerebral infarction and kidney disease are closely correlated;both 24 hour urinary albumin level and urinary albumin/urine creatinine ratio can be the predictor of acute cerebral infarction and influence the prognosis.