Cardenasjessen7725

LMNA gene encodes Lamin A and C (Lamin A/C), which are intermediate filament protein implicating in DNA replication and transcription. Mutations in LMNA are validated to cause cardiac conduction disease (CCD) and cardiomyopathy.In a Chinese family, we identified 5 members harboring the identical heterozygous LMNA (c.686T>C, I229T) disease-causing mutation, which was not found in the 535 healthy controls. In silico analysis, we revealed structural alteration in Lamin A/C I229T mutant. Furthermore, molecular docking identified human polycomb repressive complex 2 and Lamin A/C interact with higher affinity in the presence of I229T, thus may downregulate Nav1.5 channel expression.Our findings expanded the spectrum of mutations associated with CCD and were valuable in the genetic diagnosis and clinical screening for CCD. Molecular docking analysis provided useful information of increased binding affinity between mutant Lamin A/C and polycomb repressive complex 2. However, the concrete mechanism of LMNA mutation (I229T) remains undetermined in our study, future genetics and molecular studies are still needed.The objective of this study was to investigate the quality of life in stroke patients using a swallowing quality of life (SWAL-QOL) questionnaire. The correlation between SWAL-QOL questionnaire outcome and videofluoroscopic dysphagia scale (VDS) scores in stroke patients was also determined.This cross-sectional study was retrospectively conducted with 75 stroke patients with dysphagia symptoms. Brefeldin A Videofluoroscopic swallowing study (VFSS) and SWAL-QOL questionnaires were performed for all patients. These patients were divided into an oral feeding group and a tube feeding group. SWAL-QOL scores were compared between the 2 groups. The severity of dysphagia was estimated by VDS scores according to the videofluoroscopic swallowing study results. The relationships between SWAL-QOL scores and VDS scores were also investigated.The composite score was 48.82 ± 19.51 for the tube feeding group and 53.17 ± 25.42 for the oral feeding group. There were significant differences in burden and sleep subdomains of the SWAL-QOL between the 2 groups (P = .005 and P = .012, respectively). There was a significant negative correlation between the composite score of SWAL-QOL outcome and the total VDS score (r = -0.468, P = .012). The pharyngeal-phase score of the VDS had significant negative correlations with the SWAL-QOL subdomains of burden (r = -0.327, P = .013), mental health (r = -0.348, P = .008), and social functioning (r = -0.365, P = .029).To improve the quality of life of stroke patients, dysphagia rehabilitation should focus on the pharyngeal phase of dysphagia.Patients with cardiovascular diseases frequently experience exertional dyspnea. However, the relationship between respiratory muscle strength including its fatigue and cardiovascular dysfunctions remains to be clarified.The maximal inspiratory pressure/maximal expiratory pressure (MIP/MEP) before and after cardiopulmonary exercise testing (CPX) in 44 patients with heart failure and ischemic heart disease were measured. Respiratory muscle fatigue was evaluated by calculating MIP (MIPpost/MIPpre) and MEP (MEPpost/MEPpre) changes.The mean MIPpre and MEPpre values were 67.5 ± 29.0 and 61.6 ± 23.8 cm H2O, respectively. After CPX, MIP decreased in 25 patients, and MEP decreased in 22 patients. We evaluated the correlation relationship between respiratory muscle function including respiratory muscle fatigue and exercise capacity evaluated by CPX such as peak VO2 and VE/VCO2 slope. Among MIP, MEP, change in MIP, and change in MEP, only the value of change in MIP had an association with the value of VE/VCO2 slope (R = -0.36, P = .017). In addition, multivariate analysis for determining factor of change in MIP revealed that the association between the change in MIP and eGFR was independent from other confounding parameters (beta, 0.40, P = .017). The patients were divided into 2 groups, with (MIP change  0.9), and a significant difference in peak VO2 (14.2 ± 3.4 [with fatigue] vs 17.4 ± 4.7 [without fatigue] mL/kg/min; P = .020) was observed between the groups.Respiratory muscle fatigue demonstrated by the change of MIP before and after CPX significantly correlated with exercise capacity and renal function in patients with cardiovascular disease.The current barrier for investigation of Barrett esophagus (BE) in Asia is diagnostic standardization, which is a challenge to identify its true risk factors. This study aimed to investigate the prevalence, clinical characteristics and risk factors of BE in Vietnamese patients with upper gastrointestinal symptoms.A cross-sectional study was conducted on consecutive outpatients who underwent upper gastrointestinal endoscopy. Endoscopically suspected esophageal metaplasia (ESEM) which was clearly visible at least 1 cm above the gastroesophageal junction at endoscopy was taken biopsy. At least 1 biopsy per 2 cm in tongues of ESEM and 4 biopsies per 2 cm of circumferential ESEM were taken. The diagnostic criterion for BE was replacement of the normal squamous epithelial lining by columnar epithelium confirmed by histology.A total of 1947 patients were recruited. Forty-seven out of 58 patients with ESEM were histologically confirmed BE. The prevalences of BE and hiatal hernia (HH) were 2.4% (95% confidence interval [CI], 1.7-3.1%) and 2.3% (95% CI, 1.6-2.9%), respectively. Heartburn and/or regurgitation presented in only 61.7% (95% CI, 46.4-75.5%) of patients with BE. In multivariate analysis, the only 2 factors significantly associated with BE were HH (OR 7.53; 95% CI, 3.13-18.11; P  less then  .001) and typical reflux symptom (OR 2.07; 95% CI, 1.12-3.83; P = .020).BE is not uncommon in Vietnamese patients with upper gastrointestinal symptoms. In addition, typical reflux symptoms and HH are the risk factors for BE in Vietnamese.Laparoscopic inguinal herniorrhaphy has been well established for the management of primary and recurrent inguinal hernias. Single-incision laparoscopic surgery (SILS) has now been accepted as a less invasive alternative to conventional laparoscopic surgery. However, commercially available access devices for SILS had disadvantages such as rigidness and crowding. This series aimed to analyze the feasibility and safety of single-incision laparoscopic trans-abdominal pre-peritoneal hernioplasty (SILS-TAPP) by applying our self-made device for managing inguinal hernia.We collected and reviewed the medical records of patients who received SILS-TAPP using a self-made glove-port device between January 2014 and January 2016. All operations were performed by the same surgical team. The demographics and intra- and perioperative outcomes were evaluated.SILS-TAPP was successfully performed in 105 patients (131 inguinal hernia repairs). No major intra- and postoperative morbidities were encountered, and no conversion to a conventional 3-port approach or open surgery was required.