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Patients with limb girdle muscular dystrophy (LGMD) R2/2B (dysferlinopathy) lose the ability to independently move into standing from a seated position (STS) prior to loss of independent ambulation. Clinically, individuals report this impacts their ability to socialise or to work, however there are no studies evaluating this. The aim of this study was to examine the impact of loss of STS on social participation/employment in individuals with dysferlinopathy. We examined the baseline visit data of 205 participants in the Clinical Outcome study for Dysferlinopathy, a two-year, 16-site natural history study. Data analysed included scores of STS from the North Star assessment for limb-girdle type muscular dystrophies (NSAD), responses to the participant-reported Activity limitations for patients with upper and/or lower limb impairments (ACTIVLIM) and participant-reported responses to the Quality of Life in Genetic Neuromuscular Disease Questionnaire (QOLgNMD). Chi square test for association (χ2) were used to test the relationship between clinician-reported ability to STS and participant-reported ability to complete activities requiring STS. Statistically significant associations were found between the following variables: clinician-reported ability to STS (NSAD) and patient-reported ability to get on/off a toilet, in/out of a car (ACTIVLIM), how often getting to the toilet restricted activities outside the home and how often participants felt able to leave the house alone (QOLgNMD). Loss of ability to STS was associated with reduced social participation and employment, which can be detected by deterioration on NSAD or ACTIVLIM STS items. The use of equipment or support from others is helpful in managing difficulties with STS, which enables people with dysferlinopathy to remain socially active or employed. Clinicians should proactively instigate early referrals to equipment and wheelchair providers after any deterioration on NSAD or ACTIVLIM STS scores, regardless of ambulatory status. [ABSTRACT FROM AUTHOR]

This article offers a comprehensive and user-friendly guide to visualizing causal theories using Single World Intervention Graphs (SWIGs). We begin with a discussion of the potential outcomes approach to causality and limitations of using Directed Acyclic Graphs (DAGs) under this framework. We then introduce SWIGs as a simple but powerful tool for integrating potential outcomes explicitly into causal diagrams. The article provides a step-by-step guide on transforming DAGs into SWIGs that includes practical insights into constructing SWIGs under various scenarios such as confounding, mediation, and sequential randomization. Highlighting the utility of SWIGs in practice, we illustrate their application in identifying the g-formula, showcasing their capacity to make causal estimands visually explicit. This article serves as a resource for epidemiologists and researchers interested in expanding their causal inference toolkit., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Purpose: To compare two glaucoma drainage devices with subconjunctival filtration (MicroShunt and XEN) for open-angle glaucoma (OAG), with respect to effectiveness and safety., Patients and Methods: This is a single center, retrospective, interventional study. In total, 106 eyes of 95 patients with OAG underwent surgery. Of these patients, 51 eyes of 45 patients received a MicroShunt implantation and 55 eyes of 50 patients received an XEN implantation. Failure was defined as an intraocular pressure (IOP) lower than 5 or higher than 17 mmHg at the end of follow-up after 2 years, the need for surgical revision, secondary glaucoma surgery, or loss of light perception. Outcome was rated as complete success or qualified success, depending on whether it was achieved with or without anti-glaucomatous medications. Postoperative complications and interventions were also documented for both groups., Results: In the MicroShunt group, mean IOP decreased from 20.6 ± 7.5 mmHg at baseline to 13.0 ± 3.9 mmHg (p < 0.0001) after 2 years. In the XEN group, mean IOP was lowered from 22.5 ± 7.9 mmHg to 13.5 ± 4.2 mmHg (p < 0.0001). In both groups, the mean number of medications was significantly reduced (MicroShunt 2.7 ± 1.2 to 0.9 ± 2.5; p < 0.0001 vs. XEN 3.2 ± 0.9 to 1.1 ± 1.5; p < 0.0001). In regard to success rates, 37% of MicroShunt patients achieved complete success and 57% qualified success at the end of follow-up. In the XEN group, rates were 25 and 45%, respectively. Patient demographics differed between the two groups with respect to age (MicroShunt 72.8 ± 8.7 vs. XEN 67.7 ± 9.0 years; p = 0.002). Postoperative complications were comparable between the two groups., Conclusion: Both MicroShunt and XEN are effective in significantly reducing IOP and glaucoma medications in OAG, and with a good safety profile., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Background: Haemophilus influenzae (Hi) can cause severe disease in children. This study aimed to identify risk factors related to invasive Hi disease in Alaska children and evaluate carriage in people around them., Methods: From 2005 to 2011, we investigated episodes of invasive, typeable Hi disease in Alaska children <10 years old. Three age-matched control children were enrolled for each case-patient. We evaluated oropharyngeal Hi carriage in people in close contact with Hi case-patients (contacts) as well as control children and their household members. Individual and household risk factors for illness and carriage were evaluated using questionnaires and chart reviews., Results: Thirty-eight of 44 (86%) children with invasive, typeable Hi disease were recruited: 20 Hi serotype a (53%), 13 serotype b (Hib) (34%) and 5 serotype f (13%). Children with the invasive Hi disease were more likely than controls to have underlying health problems (67% vs. 24%, P = 0.001), other carriers of any Hi in their household (61% vs. 15%, P < 0.001), and inadequate Hib vaccination (26% vs. 9%, P = 0.005). People who carried Hi were younger than noncarriers (mean 12.7 vs. 18.0 years, P = 0.008). The carriage was clustered within case-patient households, with carriage in 19% of household contacts, while only 6.3% of nonhousehold contacts and 5.5% of noncontacts carried the Hi serotype of interest ( P < 0.001)., Conclusions: Factors associated with invasive Hi disease in children included underlying health problems, household carriage and inadequate Hib vaccination. The high level of carriage in case-patient households is important to consider when evaluating treatment and prophylaxis strategies., Competing Interests: The authors have no conflicts of interest to disclose.

As a regulator of alveolo-capillary barrier integrity, Transient Receptor Potential Vanilloid 4 (TRPV4) antagonism represents a promising strategy for reducing pulmonary edema secondary to chemical inhalation. In an experimental model of acute lung injury induced by exposure of anesthetized swine to chlorine gas by mechanical ventilation, the dose-dependent effects of TRPV4 inhibitor GSK2798745 were evaluated. Pulmonary function and oxygenation were measured hourly; airway responsiveness, wet-to-dry lung weight ratios, airway inflammation, and histopathology were assessed 24 h post-exposure. Exposure to 240 parts per million (ppm) chlorine gas for ≥50 min resulted in acute lung injury characterized by sustained changes in the ratio of partial pressure of oxygen in arterial blood to the fraction of inspiratory oxygen concentration (PaO 2 /FiO 2 ), oxygenation index, peak inspiratory pressure, dynamic lung compliance, and respiratory system resistance over 24 h. Chlorine exposure also heightened airway response to methacholine and increased wet-to-dry lung weight ratios at 24 h. Following 55-min chlorine gas exposure, GSK2798745 marginally improved PaO 2 /FiO 2 , but did not impact lung function, airway responsiveness, wet-to-dry lung weight ratios, airway inflammation, or histopathology. In summary, in this swine model of chlorine gas-induced acute lung injury, GSK2798745 did not demonstrate a clinically relevant improvement of key disease endpoints.