Serum lipoprotein and RBC rigidity index to predict cerebral infarction in patients with carotid artery stenosis.

OBJECTIVE: This study aims to determine the risk factors and to predict the occurrence of cerebral infarction in patients with carotid artery stenosis. METHODS: Two hundred and one subjects with carotid artery stenosis were retrospectively selected from Jinshan Branch of Shanghai Sixth People's Hospital, 115 cases of which with cerebral infarction and 86 without it. Clinical tests were performed including coagulation indices, fasting glucose, serum lipid, and blood rheology. Logistic regression analyses were used to identify the risk factors. Regression model was established, and receiver operating characteristic (ROC) curve was applied to analyze its diagnostic value. RESULTS: Our data indicated that apolipoprotein AI (OR = 0.051, 95% CI: 0.009-0.295), lipoprotein (a) (OR = 1.003, 95% CI: 1.001-1.005), and RBC rigidity index (OR = 0.383, 95% CI: 0.209-0.702) were independent risk factors. Area under the curve (AUC) of the regression model = 0.78, with the sensitivity of 73.9% (95% CI: 64.9%-81.7%) and specificity of 69.2% (95% CI: 52.4%-83.0%). Prediction probability was determined while logistic regression score >0.748 defaulted as high-risk status. High-risk ratios were 80% in progressive cerebral infarction and 72% in nonprogressive cerebral infarction (P > .05), respectively, while significant differences were found when both compared with controls (P < .001). CONCLUSIONS: We show herein that the regression model based on apolipoprotein AI, lipoprotein (a), and RBC IR is a promising tool to predict the occurrence of cerebral infarction in patients with carotid artery stenosis. However, identification of novel diagnostic markers for progressive cerebral infarction is still necessary.

Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.

The mutations in the presenilin 2 (PSEN2) gene as causes of early-onset familial Alzheimer's disease (AD) have never been reported in Asia. We conducted a phenotype and pedigree study by performing neuropathological examination and target region sequencing in a family of 3 generations. Six members in this family developed dementia in their fifth decade and died in their sixth decade. The proband was diagnosed clinically with AD, which was confirmed by an autopsy. Target region sequencing showed a novel missense mutation at codon 141 (N141Y) of the PSEN2 gene that predicts an Asparagine-to-Tyrosine substitution in the affected individuals. The result was validated by Sanger sequencing in 7 family members (2 affected and 5 unaffected). The mutation was absent in the 5 clinically unaffected relatives and 188 control subjects. No influence of the APOE genotype was observed. We are the first to demonstrate a novel PSEN2 N141Y mutation in a Chinese Han family with early-onset AD.

Disparate cardio-cerebral vascular modulation during standing in multiple system atrophy and Parkinson disease.

PURPOSE: The dynamic variance of cerebral blood flow velocity (CBFV), monitored by transcranial doppler (TCD), can reveal the integrated effects of cardio-cerebral vascular autoregulation. We investigated the characteristics of CBFV curve during active standing in multiple system atrophy (MSA), Parkinson's disease (PD) and healthy volunteers. METHODS: The CBFV curve of middle cerebral arteries was recorded using TCD in 22 patients with probable MSA; 20 PD patients and 20 volunteers matched for age. All individuals started in a supine posture, followed by abrupt standing for 2 min before returning to supine. The features of CBFV curve were compared among the groups. RESULTS: In the healthy volunteers, the CBFV decreased following standing up but quickly rebounded and reached the same or greater level as the supine baseline. Afterwards, the CBFV decreased abruptly to a sustained level, lower than the supine baseline, forming a spike wave that appeared in CBFV curve. This spike wave was present in 5/22 of MSA, significantly less than PD patients (18/20) and volunteers (20/20) (P<0.001). The CBFV decrease after standing showed no significant difference between MSA than PD (9+/-7 vs. 6+/-3 cm/s, P=0.163). CONCLUSIONS: The different pattern of CBFV curves during active standing suggests MSA may possess cardio-cerebral vascular modulation different from PD. The clinical value of the CBFV curve in differentiating MSA from PD needs further investigation.

[The application of Montreal cognitive assessment in urban Chinese residents of Beijing].

OBJECTIVE: To study the distribution of Montreal cognitive assessment (MoCA) scores in terms of age and educational level in Chinese residents aged 50 years and over and to offer a benchmark for a cutoff score. METHODS: A total of 281 residents aged 50 years or older was drawn randomly in the urban areas of Beijing, including 215 healthy elderly controls (NC) and 66 patients meeting the clinical criteria of mild cognitive impairment (MCI). The final scores for MoCA were given in the form of mean percentage distributions specific for age, sex and educational level so as to compare the validity of MMSE mini-mental state examination and MoCA in detecting MCI. By a fitting multiple regression model the influence of the factors on MMSE and MoCA was assessed. RESULTS: Using a cutoff score of 26, MMSE had a sensitivity of 24.2% to detect MCI, whereas MoCA detected 92.4% of the MCI subjects. We found a bivariate correlation between MoCA scores and both the factors of age and educational level (P < 0.001). CONCLUSIONS: MoCA is a brief cognitive screening tool with high sensitivity and specificity for detecting MCI as currently conceptualized in patients performing normally on MMSE. Our adjustment in the cutoff scores would improve the detection of MCI and Alzheimer's disease by reducing the number of false negatives. MoCA scores should be used to identify current cognitive difficulties but not to make formal diagnoses.