Chronic granulomatous disease (CGD) is an inherited immunodeficiency due to defective leukocyte NADPH responsible for recurrent infections and aberrant inflammation. Mutations in the CYBB gene are responsible for the X-linked CGD and account for approximately 70% of the cases. CGD is diagnosed during childhood in males. Female carriers may have biased X-inactivation and may present with clinical manifestations depending on the level of residual NADPH oxidase activity. We report the case of a previously asymptomatic female carrier who was diagnosed at age 67 with a skin infection with the rare fungus Paecilomyces lilacinus as the first manifestation of CGD. Dihydrorhodamine 123 (DHR) activity was below 10%. Next-generation sequencing (NGS) revealed mutations in DNMT3A, ASXL1, and STAG2 suggesting that clonal hematopoiesis could be responsible for a progressive loss of NADPH oxidase activity and the late onset of X-linked CGD in this patient. Long-term follow-up of asymptomatic carrier women seems to be essential after 50 years old.
Background: To help immigrant and refugee adolescents experiencing a severe academic delay cope with adversity, a school‐based intervention combining drama workshops and language awareness activities was piloted in two classrooms. Method: A qualitative analysis of participant observations was performed and the Strength and Difficulty Questionnaire and its Impairment Supplement was administered before and after the intervention. The observations were carried out in two Montreal high schools serving an underprivileged neighbourhood of immigrants, involving two classrooms of underschooled adolescents (n =27) and two classes of similarly underschooled adolescents chosen among other teachers interested in the intervention, who accepted to participate as a comparison group (n =28). Results: The adolescents shared their experiences of adversity and felt empowered by the workshops. Self‐reported impairment decreased in the intervention groups. Conclusion: The protective effect of creative language activities for immigrant and refugee youth should be further investigated. 相似文献
Kinesio Taping® elastic tape is increasingly used in physiotherapy treatment. However, there is a lack of scientific research regarding the late effects of its use. This study quantified the late effects of applying the Kinesio Taping® elastic tape by measuring changes in handgrip muscle strength after 24, 48 and 72 h of application. The Kinesio Taping® elastic tape was applied on the dominant and non-dominant limbs of 36 volunteers randomly assigned to three groups: muscle facilitation, muscle inhibition and control group. The statistical test showed there was a statistically significant difference among all groups of dominant limb and non-dominant limb. However, the analysis on intragroup relationship to periods of application (Initial, 24, 48 and 72 h) and the interaction among repeated measures showed there was no statistically significant difference. This result may contribute to the investigation of the late effects of the Kinesio Taping® elastic tape on the physical rehabilitation. 相似文献
Summary. Since calcium overload and increased in T-type calcium channel activity have been observed in the cardiomyopathic (CM) hamster, we hypothesized that mibefradil (Ro 40-5967), a new T- and L-type calcium channel blocker, may exert significant cardioprotection in the early phase of the disease. Young (30-day-old) CM hamsters of the UM-X7.1 subline were treated with mibefradil or verapamil for 4 to 6 weeks. Mibefradil doses were in the range of 0.5 to 8 mg/kg/day while verapamil was given at a dose of 5–10 mg/kg/day, both drugs being injected twice daily (sc and ip alternatively). At the end of the treatment period, myocardial and skeletal muscle (tongue) were harvested and processed for assessment of necrotic changes and calcification. In hearts from control CM hamsters, numerous necrotic and calcified foci were observed. These myocardial necrosis markers were not attenuated by mibefradil in the dose range studied whereas verapamil significantly reduced their severity. The dystrophic process in skeletal muscle (tongue) was not inhibited by mibefradil or verapamil. These results suggest that mechanisms other than inhibition of T- and L-type calcium channels are related to the cardioprotection observed in the presence of verapamil. A specific action on the sarcoplasmic reticulum (ryanodine-sensitive calcium channel) or the mitochondria may explain the efficacy of phenylalkylamines (verapamil) in this condition. 相似文献
BACKGROUND: Echocardiography and B-type natriuretic peptide (BNP) are diagnostic tests for congestive heart failure (CHF), but an emergency diagnosis can be difficult. OBJECTIVE: To assess the diagnostic performance of BNP testing and echocardiographic assessment of left ventricular systolic function, separately and combined, for the identification of CHF in patients with acute dyspnea. DESIGN: Prospective, multinational, multicenter study. SETTING: Patients presenting to emergency departments in seven hospitals between June 1999 and December 2000. PATIENTS: A total of 1,586 patients with acute dyspnea. MAIN OUTCOME MEASURES: Echocardiographic determination of ejection fraction (EF) and point-of care BNP measurement for the diagnosis of CHF. RESULTS: Seven hundred nine of the 1,586 patients underwent echocardiography; 492 patients (69.4%) had a final diagnosis of CHF. Patients with CHF were older (68.5 years vs 61.6 years, p < 0.0001), had a lower EF (39.5% vs 56.1%, p < 0.0001), and a higher BNP (683 pg/mL vs 129 pg/mL, p < 0.0001) than patients without CHF. Area under the receiver operating characteristic (ROC) curve for the diagnosis of CHF was significantly higher for BNP (0.89) than for EF (0.78; area under the ROC curve difference, 0.12; p < 0.0001). The sensitivity of BNP > or = 100 pg/mL for the diagnosis of CHF was 89%, and specificity was 73%. Values for EF < or = 50% had a sensitivity of 70% and a specificity of 77%. Multivariate logistic regression analysis showed that, in combination with clinical, ECG, and chest radiograph data, BNP > or = 100 pg/mL and EF < or = 50% remained independent predictors of CHF (odds ratios, 32.1 and 6.2, respectively). The proportions of patients who were correctly classified were 67% for BNP alone, 55% for EF alone, 82% for the two variables together, and 97.3% when clinical, ECG, and chest radiograph data were added. CONCLUSION: BNP measurement was superior to two-dimensional echocardiographic determination of EF in identifying CHF, regardless of the threshold value. The two methods combined have marked additive diagnostic value. 相似文献