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.
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: One hundred computed tomography scans of disease-free knees were analyzed. A 3-dimensional reconstructed image of the tibia was generated and aligned to its anatomic axis in the coronal and sagittal planes. The tibia was then rotationally aligned to the tibial plateau (tibial centroid axis) and PTS was measured from best-fit planes on the surface of the proximal tibia and individually for the medial and lateral plateaus. This was then repeated with the tibia rotationally aligned to the ankle (transmalleolar axis).
RESULTS: When rotationally aligned to the tibial plateau, the mean PTS, medial PTS, and lateral PTS were 11.2° ± 3.0 (range, 4.7°-17.7°), 11.3° ± 3.2 (range, 2.7°-19.7°), and 10.9° ± 3.7 (range, 3.5°-19.4°), respectively. When rotationally aligned to the ankle, the mean PTS, medial PTS, and lateral PTS were 11.4° ± 3.0 (range, 5.3°-19.3°), 13.9° ± 3.7 (range, 3.1°-24.4°), and 9.7° ± 3.6 (range, 0.8°-17.7°), respectively.
CONCLUSION: The PTS in the normal Asian knee is on average 11° (mean) with a reference range of 5°-17° (mean ± 2 standard deviation). This has implications to surgery and implant design.
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.
METHODS: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.
RESULTS: Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.
CONCLUSION: The mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.