MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
METHODS: This study was conducted in 4 local medical schools. LAUNDERKAP was developed via literature review and had 3 domains: attitude, knowledge, practice. An expert panel assessed the content validity and clarity of wording. LAUNDERKAP was then piloted among 32 medical students. To test construct validity and internal consistency, 362 medical students were approached. Construct validity was assessed using exploratory factor analysis. Internal consistency was evaluated using Cronbach alpha for attitude and practice, while Kuder-Richardson 20 (KR-20) was used for knowledge.
RESULTS: A total of 319 of 362 students responded. Exploratory factor analysis extracted 1 factor each for attitude and knowledge respectively, and 3 factors for practice. Cronbach alpha for attitude was 0.843 while KR-20 for knowledge was 0.457. Cronbach alpha for practice ranged from 0.375 to 0.689. The final LAUNDERKAP contained 32-items (13 attitude, 9 knowledge, 10 practice).
CONCLUSIONS: LAUNDERKAP had adequate psychometric properties and can be used to assess KAP of medical students towards white coat use.
OBJECTIVE: This study, therefore, identified any potential associations between knee OA symptoms and urinary incontinence and further explore sex differences in the associations.
DESIGN: Cross-sectional study.
SETTING: University Hospital.
PARTICIPANTS: This was a cross-sectional study from a longitudinal research study comprising 1221 community-dwelling older persons (57% women), mean age (SD) 68.95 (7.49) years.
MAIN OUTCOME MEASURE(S): Presence of urinary incontinence: mixed, stress and urge symptoms. Physical performance and C-reactive protein levels were also assessed.
RESULTS: Two hundred and seventy-seven (22.83%) individuals reported the presence of urinary incontinence: mixed (41.5%), stress (30%), and urge (28.5%) symptoms. In an unadjusted analysis, stratified by gender, the association between knee pain and urinary incontinence was only present in women with mixed symptoms. After further adjustment of demographics differences and body mass index, the association between knee pain with any urinary incontinence and mixed symptoms remained significant with the odds ratios (95% confidence interval): 1.48 (1.02-2.15) and 1.73 (1.06-2.83), respectively. This relationship was attenuated after further adjustment for waist circumference and impaired lower limb mobility.
CONCLUSION: Our study refutes previous assumptions that urinary incontinence in individuals with OA is attributed to impaired mobility alone, but introduces the role of abdominal obesity in this relationship, particularly in women. Future studies should assess the temporal relationship between body fat distribution and OA with urinary incontinence.
METHODS: A validated, online-based survey was disseminated to 670 students from four Malaysian medical schools via random sampling. Scores were classified into good, moderate, or poor knowledge and practice, and positive, neutral, or negative attitude. Mann-Whitney U and Kruskal-Wallis tests were used to analyze the relationship between demographic variables and knowledge, attitude, and practice scores.
RESULTS: A total of 492/670 students responded (response rate: 73.4%). A majority showed negative attitudes (n = 246, 50%), poor knowledge (n = 294, 59.8%), and moderate practice (n = 239, 48.6%). Senior and clinical year students had more negative attitudes. Male students had higher knowledge, while students from private medical schools and preclinical years had better practice. There was a significant relationship between attitude and practice (r = 0.224, P
METHODS: The proximal tibia was resected as a single osteochondral unit during total knee replacement from patients (N = 10). The osteoarthritic chondrocytes were isolated from the osteochondral units, and characterized using reverse transcriptase-polymerase chain reaction. The isolated osteoarthritic chondrocytes were cultured and embedded in agarose, and then subjected to 10% and 20% uniaxial dynamic compression up to 8-days using a bioreactor. The morphological features and changes in the osteoarthritic chondrocytes upon compression were evaluated using scanning electron microscopy. Safranin O was used to detect the presence of cartilage matrix proteoglycan expression while quantitative analysis was conducted by measuring type VI collagen using an immunohistochemistry and fluorescence intensity assay.
FINDINGS: Gene expression analysis indicated that the isolated osteoarthritic chondrocytes expressed chondrocyte-specific markers, including BGN, CD90 and HSPG-2. Moreover, the compressed osteoarthritic chondrocytes showed a more intense and broader deposition of proteoglycan and type VI collagen than control. The expression of type VI collagen was directly proportional to the duration of compression in which 8-days compression was significantly higher than 4-days compression. The 20% compression showed significantly higher intensity compared to 10% compression in 4- and 8-days.
INTERPRETATION: The biosynthetic activity of human chondrocytes from osteoarthritic joints can be enhanced using selected compression regimes.
METHOD: Guidelines for the process of cross-cultural adaptations of assessment measures were implemented. A sample of 303 young military recruits participated in the study. Factor structure, reliability, and validity of scores on the PCS-MY were examined. Convergent validity was investigated with the Positive and Negative Affect Scale, Short-form 12 version 2, and Ryff's Psychological Well-being Scale.
RESULTS: Most participants were men, ranging in age from 19 to 26. The reliability of the PCS-MY scores was adequate (α = 0.90; mean inter-item correlation = 0.43). Confirmatory factor analysis showed that a modified version of the PCS-MY provided best fit estimates to the sample data. The PCS-MY total score was negatively correlated with mental well-being and positively correlated with negative affect (all ps < 0.001).
CONCLUSION: The PCS-MY was demonstrated to have adequate reliability and validity estimates in the study sample.