Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data / 南方医科大学学报

<p><b>OBJECTIVE</b>To compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population.</p><p><b>METHODS</b>The clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively.</p><p><b>RESULTS</b>The patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases. The patients showed mild to moderate elevation of the muscle enzymes by one to three folds, and the familial patients had more significant elevation than the sporadic ones. No correlation was found between the disease duration and the level of muscle enzymes. The pathological findings were similar between the cases, and Gomori staining showed rimmed vacuoles and inclusion bodies without inflammatory cell infiltration. Follow-up results of 29 cases showed no significant difference between the two groups. The disease was slowly progressive and severely affected the quality of life of the patients, but did not produce obvious effect on the life expectancy.</p><p><b>CONCLUSION</b>The clinical, pathological and laboratory data of Chinese DMRV patients are basically similar to those of Japanese cases. Sporadic cases tend to show more dysmorphic features than the familial ones, and occasional sporadic cases have early disease onset in early childhood.</p>

Study on the relationship between polymorphisms of susceptible genes in coagulation pathway related to pulmonary thromboembolism in Chinese Han population / 中华流行病学杂志

<p><b>OBJECTIVE</b>To determine the prevalence of beta-fibrinogen gene -455G/A, -148C/T polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism (PTE).</p><p><b>METHODS</b>The subjects consisted of 101 patients with PTE and 101 healthy controls matched with age and sex, from the same geographic area. All patients were diagnosed by high probability of lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography as well as medical history and clinical manifestations. Genome DNA was extracted from whole blood using KI-phenol-chloroform. Genotypes and allele frequencies of fibrinogen beta gene -455G/A, -148C/T polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Restriction enzyme HaeIII and HindIII digestion were used for detecting -455G/A, -148C/T polymorphisms respectively.</p><p><b>RESULTS</b>Regarding fibrinogen beta gene -455G/A and -148C/, the allele frequencies G and A of fibrinogen beta -455 in the controls were 0.931, 0.069 while C and T of -148 were 0.777, 0.223 respectively, which were in good agreement with Hardy-Weinberg equilibrium. There was significant difference of -455G/A genotype frequencies distribution of AA, GA, GG between cases and in controls respectively, but no significant difference was found in the -148C/T polymorphisms. The frequencies of mutation allele -455A were 0.193, 0.169 in cases and in controls with P < 0.05 but there was no statistically significant difference of -148T allele. The presence of A allele of fibrinogen beta -455 was found to be a greater risk factor in cases than in controls. The odds ratio (OR) of GA and GA + AA were 3.723 (1.786 - 7.759), 3.749 (1.842 - 7.630), respectively. When compared with GG genotype, the P value was 0.0001.</p><p><b>CONCLUSION</b>There was a complete linkage disequilibrium between fibrinogen beta -148C/T and -455G/A found. The frequencies of -455A, alleles in PTE disease were apparently higher than that of healthy adults but there was no difference in -148T alleles.</p>

R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.</p><p><b>METHODS</b>The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.</p><p><b>RESULTS</b>Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.</p><p><b>CONCLUSION</b>The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.</p>

Over-expression of myostatin gene mRNA in skeletal muscle of patients with myotonic dystrophy / 中华神经科杂志

0.05).Conclusions The expression of myostatin gene mRNA is increased in myotonic dystrophy.Up-regulated expression of myostatin in skeletal muscle might be associated with the mechanism of myotonic dystrophy.

Effects of simvastain combined with omega-3 fatty acids on high sensitive C-reactive protein, lipidemia, and fibrinolysis in patients with mixed dyslipidemia / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To evaluate the effects of simvastatin combined with omega-3 fatty acids on high sensitive C-reactive protein (HsCRP), lipidemia, and fibrinolysis in coronary heart disease (CHD) and CHD risk equivalent patients with mixed dyslipidemia.</p><p><b>METHODS</b>A randomized, double-blind placebo controlled and parallel group trial was conducted. Patients with CHD and CHD risk equivalents with mixed dyslipidemia were treated with 10 or 20 mg simvastatin for 6-12 weeks. Following with the treatment of patients whose low-density lipoprotein cholesterol (LDL-ch) reaching goal level (< 100 mg/dL) or close to the goal (< 130 mg/dL), while triglyceride (TG) > or = 200 mg/dL and < 500 mg/dL, was combined with omega-3 fatty acids (3 g/d) or a placebo for 2 months. The effects of the treatment on HsCRP, total cholesterol (TC), LDL-ch, high-density lipoprotein cholesterol (HDL-ch), TG, lipoprotein (a) [LP (a)], apolipoprotein A1 (apoA1), apolipoprotein B (apoB), plasminogen activator inhibitor-1 (PAI-1), and tissue plasminogen activator (tPA) were investigated. Forty patients finished the study with each group consisting of twenty patients.</p><p><b>RESULTS</b>(1) There were significant reductions of HsCRP, TG, TC, and TC/HDL-ch, which decreased by 2.16 +/- 2.77 mg/L (38.5%), 94.0 +/- 65.4 mg/dL (31.1%), 13.3 +/- 22.3 mg/dL (6.3%), 0.78 +/- 1.60 respectively in the omega-3 fatty acids group (P < 0.01, < 0.001, < 0.05, < 0.05) compared to the baseline. HsCRP and triglyceride reduction were more significant in omega-3 fatty acids group compared to the placebo group (P = 0.021 and 0.011 respectively). (2) In the omega-3 fatty acids group, the values and percentage of TG reduction had a significantly positive relation with HsCRP reduction (r = 0.51 and 0.45, P = 0.021 and 0.047 respectively).</p><p><b>CONCLUSION</b>In CHD and CHD risk equivalent patients with mixed dyslipidemia, dyslipidemia's therapeutic effect using simvastatin and omega-3 fatty acids may result from not only the combination of lipid adjustment, but also enhancement of their own nonlipid influences.</p>

Cognitive impairment in epileptic patients: neuropsychological and diffusion-tensor imaging study / 中华神经科杂志

Objective To explore the pathologic changes in the brain areas corresponding to specific cognitive function and underlying mechanism of cognitive impairment in patients with epilepsy by DTI study.Methods Forty-four Patients and 20 control subjects received the test of Wechsler Adult Intelligence Scale and the Diffusion-Tensor Imaging examination.Mean diffusivity (MD) and fractional anisotropy (FA) in the normal appearing white matter of interested area were measured.T test was employed to compare the MD and FA between patients and healthy controls,patients with normal and impaired FIQ respectively.The relationships between FIQ and DTI value were analyzed by Bivariate correlations.Results VIQ (100.52?17.63),PIQ (95.10?16.72) and FIQ (98.19?17.76) of the patients with epilepsy were significantly lower than those of health controls (VIQ,PIQ and FIQ were 109.77?13.54,108.11? 12.17 and 109.81?10.57,respectively).Significant reduction of FA in both side of posterior limb of internal capsule (P