Relationship between genetic polymorphisms MTHFR (C677T, A1298C), MTR (A2756G) and MTRR (A66G) genes and multiple sclerosis: a case-control study.

Recent studies have reported elevated plasma homocysteine and reduced folate and vitamin B levels in patients with multiple sclerosis (MS). In this study, we aimed to investigate the association between MS and the following four DNA polymorphisms: MTR A[2756]G, MTHFR C[677]T, MTHFR A[1298]C and MTRR A[66]G. The DNA polymorphisms were genotyped in 80 patients with confirmed MS and 80 healthy control age- and gender-matched subjects using PCR-RFLP approach. Our results show that the frequency of the T/T genotype homozygotes for the MTHFR C[677]T polymorphism was significantly higher in patients than in controls (p = 0.04, OR: 3.16, 95% CI: 1.23-8.17). In turn, the A/A genotype of the MTHFR A[1298]C polymorphism was more frequent in controls than in patients (41.3% vs. 32.5%, p = 0.04). There were no differences in distribution of genotypes for the MTR A[66]G and MTR A[2756]C polymorphisms between patients with MS and controls (p > 0.05). Our findings suggested that the MTHFR C[677]T and MTHFR A[1298]C gene polymorphisms might be associated with MS as genetic factors influencing the risk of the disease.

Correlation of right ventricular dysfunction on acute pulmonary embolism with pulmonary artery computed tomography obstruction index ratio (PACTOIR) and comparison with echocardiography.

PURPOSE: The aim of this study was to determine the pulmonary artery computed tomography obstruction index ratio (PACTOIR) in patients who have been diagnosed with acute pulmonary embolism (APE) with multi-slice computed tomography (MSCT) and to research the predetermination efficiency of right ventricular dysfunction (RVD) compared with echocardiography (ECHO). MATERIALS AND METHODS: One hundred patients (50 males, 50 females), who had ECHO findings and were diagnosed with APE, were subsequently examined in this study. Patients who had RVD on ECHO, tricuspid regurgitation, and pulmonary hypertension parameters that were completely positive were accepted to have RVD. RESULTS: RVD was identified in 52 patients (52 %) on echocardiography. The PACTOIR value for patients with RVD were evaluated to be significantly higher than those without RVD (41 ± 17 vs 20 ± 12 %, p < 0.001). In the ROC analysis, the PACTOIR cut-off value was 37.5 %, the sensitivity value was 67.3 %, and specificity value was 93.7 % (AUC 0.839, 95 % CI 0.752-0.905). We determined that the patients with RVD and PACTOIR values over 37.5 % can be recognized with a 92.1 % positive predictive value. CONCLUSION: Our conclusions indicated that the PACTOIR rate in RVD diagnosis in patients with APE can recognize the patients with and without RVD.

Cognitive functions, fatigue, depression, anxiety, and sleep disturbances: assessment of nonmotor features in young patients with essential tremor.

There is a growing amount of evidence to suggest that besides motor features, patients with essential tremor (ET) may exhibit significant nonmotor features, such as mild cognitive deficits, fatigue, neuropsychiatric symptoms, and sleep disturbances. The goal of this study was to examine nonmotor features in young patients with ET and their impact on quality of life. 45 patients (24.55 ± 7.16 years old) with ET and 35 controls were evaluated using the Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, Beck Depression Inventory, Beck Anxiety Scale, Fatigue Severity Scale, and Short Form-36. Cognitive functions were evaluated using the Turkish version of the Montreal Cognitive Assessment Battery (MoCA). We ruled out other possible causes of the tremor. The tremor rate was evaluated using the Fahn-Tolosa-Marin Tremor Rating Scale. Poor sleep quality, fatigue, anxiety, and depressive symptoms were more common, and MoCA total scores were lower in the patient group. Fatigue, depressive symptoms, and higher anxiety levels were seen to have a negative effect on physical and mental health. Excessive daytime sleepiness had a negative effect on physical health. There is an emerging interest in nonmotor features of ET. This study showed that even young patients have nonmotor features that decrease their quality of life. This might tell us that nonmotor symptoms could be a part of the disease in the early stages.