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By quantitative polymerase chain reaction analysis, we identified a hemizygous frameshift mutation in DAX1 (c.543delA). Conclusions We suggest that DAX1 mutations affect a wider variety of endocrine organs than previously known, including the posterior pituitary gland.Background Population segmentation is useful for understanding the health needs of populations. Expert-driven segmentation is a traditional approach which involves subjective decisions on how to segment data, with no agreed best practice. The limitations of this approach are theoretically overcome by more data-driven approaches such as utilisation-based cluster analysis. Previous explorations of using utilisation-based cluster analysis for segmentation have demonstrated feasibility but were limited in potential usefulness for local service planning. check details This study explores the potential for practical application of using utilisation-based cluster analyses to segment a local General Practice-registered population in the South Wales Valleys. Methods Primary and secondary care datasets were linked to create a database of 79,607 patients including socio-demographic variables, morbidities, care utilisation, cost and risk factor information. We undertook utilisation-based cluster analysis, using k-means methodology to is of linked primary and secondary healthcare use data for a local GP-registered population can segment the population into distinct groups with unique health and care needs, providing useful intelligence to inform local population health service planning and care delivery. This segmentation approach can offer a detailed understanding of the health and care priorities of population groups, potentially supporting the integration of health and care, reducing fragmentation of healthcare and reducing healthcare costs in the population.Background Many studies assessed the effect of mobile phone applications on self-management outcomes in patients with asthma, but all of them presented variable results. In this paper. we examined the effect of a mobile phone application on self-management and disease control in Romanian population. Methods This study included 93 patients diagnosed with asthma that were recalled every three months for a year for assessment and treatment. Patients were divided into two groups. The first group included patients that received treatment, and the second group received treatment and also used the smartphone application. Number of exacerbations and asthma control test (ACT) were recorded. Results The ACT score was significantly higher for asthma patients using also the mobile application than for the patients using the treatment alone, for all the evaluation moments (Mann-Whitney U test, p less then 0.001). Also, we found significant differences between the ACT score with-in each group, observing a significant improvement of the score between evaluations and baseline (related-samples Friedman's test with Bonferroni correction, p less then 0.001). When considering the exacerbations rate, significantly less patients using the application presented exacerbations, 10.30% vs. 46.30% (Pearson Chi-square test, X2 (1) = 13.707, p less then 0.001). Conclusion Our study indicates that smartphone applications are an effective way to improve asthma control and self-management when used continually in our population. We found significant positive effects in disease control and exacerbation frequency.Background Neck pain in migraine patients is very prevalent between and during migraine attacks, but the underlying mechanism behind neck pain in migraine is unknown. The neck muscle rectus capitis posterior minor muscle (RCPmi) may be important since it is connected to the occipital dura mater. In this study, we examined the RCPmi volume in migraine patients and compared with controls. Methods We conducted a cross-sectional MRI study examining muscle volume in 40 episodic migraine patients and 40 controls in preexisting images from prior studies. Three-dimensional T1 weighted sequences were collected with a 3.0 T MRI Scanner. The volume of RCPmi was examined by manually tracing the muscle circumference with Horos medical image viewer. The observer was blinded to participant information. No information regarding neck pain status during or between migraine attacks were available. Results The mean RCPmi volume was 1.22cm3 in migraine patients and 1.17cm3 in controls (p = 0.549). We found no differences in RCPmi volume on the pain side vs. the non-pain side (p = 0.237) in patients with unilateral migraine. There were no association between the muscle volume and years with migraine, headache or migraine frequency, age or BMI. Conclusions We found no difference in RCPmi volume between migraine patients and controls, suggesting no structural RCPmi pathology in migraine.Background It has been confirmed that NF-κB p65 signaling pathway is involved in the regulation of alveolar hypercoagulation and fibrinolysis inhibition in acute respiratory distress syndrome (ARDS). Whether SN50, a NF-κB cell permeable inhibitor, could attenuate alveolar hypercoagulation and fibrinolysis inhibition in ARDS remains to be elucidated. Purpose We explored the efficacy and potential mechanism of SN50 on alveolar hypercoagulation and fibrinolysis inhibition in ARDS in mice. Materials and methods Mouse ARDS was made by 50 μl of lipopolysaccharide (LPS) (4 mg/ml) inhalation. Male BALB/c mice were intraperitoneally injected with different does of SN50 1 h before LPS inhalation. Lung tissues were collected for hematoxylin-eosin (HE) staining, wet/dry ratio. Pulmonary expressions of tissue factor (TF), plasminogen activator inhibitor-1 (PAI-1), collagen III, as well as phosphorylated p65 (p-p65), p65 in nucleus (p'-p65), IκBα and IKKα/β were measured. Bronchoalveolar lavage fluid (BALF) was gathered to in cytoplasm of pulmonary tissue were not affected. Conclusions SN 50 attenuates alveolar hypercoagulation and fibrinolysis inhibition in ARDS via inhibition of NF-κB p65 translocation. Our data demonstrates that NF-κB p65 pathway is a viable new therapeutic target for ARDS treatment.
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