Screening for dysphagia in patients with relapsing-remitting multiple sclerosis.

BACKGROUND: In multiple sclerosis (MS), dysphagia is an important and common clinical symptom. Although often overlooked and underdiagnosed, it can have a significant impact on a patient's life, including social integration, and it can lead to malnutrition, aspiration pneumonia, and suffocation, i.e., life-threatening complications. Early detection of dysphagia is essential to prevent these risks. However, the optimal screening method and the inter-relationship between different methods used for dysphagia screening are not clear. The aim of this study was to compare the diagnostic performance of a simple question about swallowing problems, the DYsphagia in MUltiple Sclerosis (DYMUS) swallowing questionnaire, and the Timed Water Swallowing Test (TWST) to detect dysphagia in people with relapsing-remitting MS (RRMS). METHODS: Patients with MS were asked about subjective swallowing difficulties and, regardless of their response, completed the DYMUS questionnaire and underwent the TWST at their routine follow-up visit. Patients with at least one positive screening method were offered an objective assessment of swallowing function using the Fiberoptic Endoscopic Evaluation of Swallowing (FEES). The results were statistically analyzed and correlated with demographic and MS-related parameters. RESULTS: Of the 304 people with RRMS enrolled in the study, 46 (15.1 %) reported having subjective difficulty swallowing when asked a simple question. The DYMUS questionnaire was positive in 59 (19.4 %) of the 304 patients; 51 (16.8 %) had an abnormality on the TWST. A clear correlation (r = 0.351, p < 0.01) was found between the DYMUS and TWST results, but a significant proportion of patients (about half) had an abnormality on only one of these tests. The positivity of at least one of the screening methods used (DYMUS or TWST) had a better chance of identifying a patient with dysphagia than a simple question (p < 0.001). Of the patients with a positive result for difficulty swallowing, 37 underwent FEES, which confirmed dysphagia in 94.6% of this subgroup. Patients with higher Expanded Disability Status Scale (EDSS) scores, female gender, and older age were at higher risk of developing dysphagia. CONCLUSION: The DYMUS questionnaire and TWST had a confirmed potential to identify more patients with dysphagia than a simple question about swallowing problems. However, our study found only a partial overlap between DYMUS and TWST; a combination of these two methods was more sensitive in identifying patients with MS at risk of dysphagia. Furthermore, the screening showed excellent specificity: almost 95 % of the positively screened patients had dysphagia confirmed by objective methods. Age, female gender, and a higher EDSS score appear to be potential risk factors for dysphagia in patients with MS.

Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis.

We investigated the HLA-DRB1*1501 tagging rs3135388 gene polymorphism and its association with multiple sclerosis (MS) susceptibility, disability and gender differences. The study group consisted of 306 MS patients and 137 healthy individuals. A significant difference in genotype distribution (Pg=3.06×10(-9)) and allele frequency (Pa=6.08×10(-10)) between MS patients and controls was demonstrated. The homozygotes AA and heterozygotes GA were more frequent in MS patients (OR=4.27, 95% CI: 2.64-6.92). A significant difference between female MS patients and female controls in genotype distribution (Pg=1.3×10(-8)) and allele frequency (Pa=2.82×10(-9)); (OR=5.11, 95% CI: 2.86-9.15) was also proved. Our results indicate that the distribution of the rs3135388 gene polymorphism is a risk factor for MS susceptibility in the Czech female population.

Two frequent polymorphisms of angiotensinogen and their association with multiple sclerosis progression rate.

A total of 195 patients with multiple sclerosis (MS) and 126 controls were investigated for angiotensinogen/(-6)A/G, M235T/and angiotensin converting enzyme I/D gene polymorphisms to test their association with MS susceptibility and/or disease progression using Global Multiple Sclerosis Severity Score (MSSS). We demonstrated a significant association of M235T polymorphism with MSSS. The MM homozygotes had the lowest (3.8), heterozygotes MT higher (5.2) and homozygotes TT the highest (5.4) mean MSSS values (P=0.02). For polymorphisms (-6)A/G of ATG, only a trend was observed (P=0.06), where the homozygotes GG carried lower MSSS values than heterozygotes and homozygotes AA. No significant association with susceptibility was observed. For ACE I/D polymorphism, neither significant differences in the genotype-phenotype study nor in the case-control study were observed.

Matrix metalloproteinase-9 and matrix metalloproteinase-2 gene polymorphisms in multiple sclerosis.

We investigated the association of matrix metalloproteinase-9 (-1562C/T, +279R/Q) and matrix metalloproteinase-2 (-1575G/A, -1306C/T) gene polymorphisms with multiple sclerosis (MS) susceptibility, gender differences and disability in 244 patients and 132 healthy subjects. A significant decrease of the -1562T allele carriers in MS patients compared to controls (Pa=0.01, Pacorr=0.05) in -1562C/T MMP-9 gene polymorphism was found, (odds ratio (OR) -0.58, 95% confidence interval (CI):0.38-0.89). Significant differences were also demonstrated between female patients and healthy females (Pa=0.01, Pacorr=0.05), (OR-0.53, 95% CI:0.32-0.86). Other polymorphisms were not associated either with MS susceptibility or with phenotype of the disease. No association with disability was found.