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Background: Hypertrophic cardiomyopathy is an autosomal dominant disease. The main feature of this disorder is its occurrence in patients who present a left ventricular hypertrophy, unexplained by the loading conditions, usually asymmetric with greatest involvement most commonly of the interventricular septum.Case presentation During a sports medicine control, a ultrasound scan in a 17 years old patient has shown a concentric left ventricular parietal hypertrophy associated with a 23 mm mid- basal interventricular septum thickness. After genetic counselling, a positive family history for hypertrophic cardiac disease and parents’ consanguineity was found. The genetic basis of the hypertrophic cardiomyopathy was investigated through a dedicated gene panel. The genetic test has revealed the presence of the variant c.3424G>A (p.Glu1142Lys) in the MYH7 gene in a homozygous state. Genotyping of the parents and of the two brothers revealed the presence of the MYH7 variant in heterozygosity in both parents and in the younger brother. In all of them, variable signs of hypertrophic cardiomyopathy were found. Conclusions: Our findings report the presence of a homozygous variant in a sarcomeric gene (MYH7) which gave rise to early HCM, whereas the variant in a heterozygous state was associated to much milder cardiac phenotypes in the affected relatives. The onset and the progression of the hypertrophic cardiomyopathy in the reported family is to be referred to the presence of the variant in hetero- or homo-zygosity in a gene dosage manner.

Introduction Gender-based discrimination (GBD) is generally defined as unequal or disadvantageous treatment based on one’s gender. Emerging evidence suggests that exposure to GBD in its various forms can yield negative consequences for women’s health, including delaying access to healthcare services and lowering the quality of nutrition. Although consensus exists around the theoretical definitions of GBD, current studies are limited on how to measure GBD empirically in order to assess its true impact on women’s health. Our mixed-methods scoping review aims at synthesising existing evidence by answering the question How is gender-based discrimination defined and measured in the health literature, with specific reference to Low and Middle-Income Countries (LMICs)?. Our ambition is to identify commonalities across definitions and measures to generate a dialogue towards reaching consensus around the development of a single standardised tool to be applied in health studies.Methods and analysis Our mixed-method scoping review includes quantitative, qualitative and mixed-methods studies and unfolds according to the six stages proposed by Levac et al. Eligibility criteria for studies were defined in order to reflect the three core elements of the search, namely (1) the discrimination based on the gender, (2) the link to health outcomes and (3) the developing countries context. Four databases (PubMed, Web of Science, Cinahl and Econlit) were searched. We will extract and synthesise information from quantitative and qualitative studies following the framework proposed by Hong and use the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping review tool as a guide.Ethics and dissemination Since our scoping review relies exclusively on information extracted from published articles, its conduct is not subjected to ethical clearance. Results will be described and discussed in a peer-reviewed article and presented at relevant workshops and conferences.

Abstract Background MSQOL-54 is a multidimensional, widely-used, health-related quality of life (HRQOL) instrument specific for multiple sclerosis (MS). Findings from the validation study suggested that the two MSQOL-54 composite scores are correlated. Given this correlation, it could be assumed that a unique total score of HRQOL may be calculated, with the advantage to provide key stakeholders with a single overall HRQOL score. We aimed to assess how well the bifactor model could account for the MSQOL-54 structure, in order to verify whether a total HRQOL score can be calculated. Methods A large international database (3669 MS patients) was used. By means of confirmatory factor analysis, we estimated a bifactor model in which every item loads onto both a general factor and a group factor. Fit of the bifactor model was compared to that of single and two second-order factor models by means of Akaike information and Bayesian information criteria reduction. Reliability of the total and subscale scores was evaluated with Mc Donald’s coefficients (omega, and omega hierarchical). Results The bifactor model outperformed the two second-order factor models in all the statistics. All items loaded satisfactorily (≥ 0.40) on the general HRQOL factor, except the sexual function items. Omega coefficients for total score were very satisfactory (0.98 and 0.87). Omega hierarchical for subscales ranged between 0.22 to 0.57, except for the sexual function (0.70). Conclusions The bifactor model is particularly useful when it is intended to acknowledge multidimensionality and at the same time take account of a single general construct, as the HRQOL related to MS. The total raw score can be used as an estimate of the general HRQOL latent score.

Abstract Background To achieve higher effectiveness in population-based SARS-CoV-2 surveillance and to reliably predict the course of an outbreak, screening, and monitoring of infected individuals without major symptoms (about 40% of the population) will be necessary. While current testing capacities are also used to identify such asymptomatic cases, this rather passive approach is not suitable in generating reliable population-based estimates of the prevalence of asymptomatic carriers to allow any dependable predictions on the course of the pandemic. Methods This trial implements a two-factorial, randomized, controlled, multi-arm, prospective, interventional, single-blinded design with cluster sampling and four study arms, each representing a different SARS-CoV-2 testing and surveillance strategy based on individuals’ self-collection of saliva samples which are then sent to and analyzed by a laboratory. The targeted sample size for the trial is 10,000 saliva samples equally allocated to the four study arms (2500 participants per arm). Strategies differ with respect to tested population groups (individuals vs. all household members) and testing approach (without vs. with pre-screening survey). The trial is complemented by an economic evaluation and qualitative assessment of user experiences. Primary outcomes include costs per completely screened person, costs per positive case, positive detection rate, and precision of positive detection rate. Discussion Systems for active surveillance of the general population will gain more importance in the context of pandemics and related disease prevention efforts. The pandemic parameters derived from such active surveillance with routine population monitoring therefore not only enable a prospective assessment of the short-term course of a pandemic, but also a more targeted and thus more effective use of local and short-term countermeasures. Trial registration ClinicalTrials.gov DRKS00023271 . Registered November 30, 2020, with the German Clinical Trials Register (Deutsches Register Klinischer Studien)

Background Evidence emerging from qualitative studies suggests the existence of substantial variation in how health workers experience performance-based financing (PBF) within the same setting. To date, however, no study has quantified or systematically explored this within-setting heterogeneity. Considering that differences in health workers’ affective reactions to PBF likely constitute an important element mediating the effectiveness of PBF in improving health service delivery, systematic and tangible information will be highly valuable to policy-makers and program managers who aim to maximize positive impacts of PBF. Our study aimed at contributing to filling this gap in knowledge by quantifying health workers’ knowledge of, satisfaction with, and perceptions of PBF in Burkina Faso, and exploring factors associated with heterogeneity therein. Methods The study employed a post-intervention cross-sectional explanatory mixed methods study design with a dominant quantitative component – a structured survey to a total of 1314 health workers from 396 intervention health facilities – and a small and focused qualitative component – key informant interviews with 5 program managers – to triangulate and further elucidate the quantitative findings. Quantitative data were analyzed descriptively as well as using 3-level mixed effects models. Qualitative data were analyzed in a largely deductive process along the quantitative variables and results. Results Health workers were on average moderately satisfied with PBF overall, with a slight tendency towards the positive and large variation between individuals. Two-thirds of health workers did not have adequate basic knowledge of key PBF elements. Perceived fairness of the performance evaluation process, of the bonus distribution process, and satisfaction with the individual financial bonuses varied dramatically between respondents. Factors associated with heterogeneity in knowledge, satisfaction, and fairness perceptions included responsibility at the facility, general work attitudes, management factors, and training in and length of exposure to PBF. Conclusion Findings imply that investments into staff training on PBF and manager training on organizational change processes might be beneficial to positive staff attitudes towards PBF, which in turn would likely contribute to improving the effectiveness of PBF.

ContextData on pubertal timing in Silver Russell syndrome (SRS) are limited.Design and methodsRetrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of chromosome 7 (mUPD7, n=13)] and 21 small for gestational age (SGA). Clinical (thelarche in females; testis volume ≥ 4 ml in males; pubarche), BMI SD trend from the age of 5 to 9 years to the time of puberty, biochemical parameters of puberty onset [Luteinizing hormone (LH), 17-β-estradiol, testosterone], and bone age progression were evaluatedResultsPubertal onset and pubarche occurred significantly earlier in children with SRS than in SGA (p 0.03 and p 0.001, respectively) and clinical signs of puberty onset occurred earlier in mUPD7 than in 11p15LOM group (p 0.003). Five SRS children experienced central precocious puberty and LH, 17-β-estradiol, testosterone were detected earlier in SRS than in SGA (p 0.01; p 0.0001). Bone age delay in SRS children was followed by rapid advancement; the delta between bone age and chronological age in SRS group became significantly higher than in SGA group at the age of 9-11 years (p 0.007). 11p15LOM patients were underweight at the age of 5 years and showed a progressive normalization of BMI that was significantly higher than in mUPD7 (p 0.04) and SGA groups (p 0.03) at puberty onset.ConclusionTiming of puberty is affected in SRS and occurred earlier in mUPD7 compared to 11p15LOM. The impact of early puberty on adult height and metabolic status deserves long-term evaluation.

Background Transnational networks such as Communities of Practice (CoPs) are flourishing, yet their role in diffusing health systems reforms has been seldom investigated. Over the past decade, performance-based financing (PBF) has rapidly spread in Africa. This study explores how, through the PBF Community of Practice’s attributes, structure, and strategies, PBF diffusion was fostered in sub-Saharan Africa (SSA). Methods Informed by the diffusion entrepreneurs’ (DEs) framework dimensions, we used a mixed methods convergent design to investigate how the attributes, structure, and strategies of this community fostered the diffusion of PBF. The quantitative strand of work included firstly a semantic discourse analysis of textual data extracted from CoP’s online discussion forum (n = 1346 posts). Secondly, the relational data extracted from these 1346 forum posts was examined using social network analysis (SNA). We confronted these quantitative results with a thematic analysis of qualitative interviews (n = 40) and data extracted from the CoP’s key documentation (n = 17). Results CoP members’ attributes included: representation systems anchored in clinical and economic sciences, strong expectations that the CoP would boost professional visibility and career, and significant health systems knowledge and social resources. The CoP’s core group, dominated by high-income country (HIC) members, critically matched PBF principles to major health systems issues in Africa. The broad consensus in online PBF thematic discussions created a strong sense of community, a breeding ground for emulation among CoP members. The CoP also sought to produce and promote experiential knowledge exchanges about PBF amongst African practitioners. Findings from network analyses showed that the promoted Africa-driven community was led by HIC members, although their prominence tended to decrease with time. Conclusion This empirical research highlighted some of the constituting features, structure, and strategies of policy networks in influencing health policy diffusion. Despite good intentions to disrupt the established governance landscape, influential actors coming from HICs continued to drive the framing, and shaped health systems policy experimentation, emulation, and learning in African countries. Beyond mere knowledge exchange platforms, CoP can act as meaningful transnational policy networks pursuing the diffusion of health systems reforms, such as PBF.

Abstract Background Countries in Africa progressively implement performance-based financing schemes to improve the quality of care provided by maternal, newborn and child health services. Beyond its direct effects on service provision, evidence suggests that performance-based financing can also generate positive externalities on service utilization, such as increased use of those services that reached higher quality standards after effective scheme implementation. Little, however, is known about externalities generated within non-incentivized health services, such as positive or negative effects on the quality of services within the continuum of maternal care. Methods We explored whether a performance-based financing scheme in Malawi designed to improve the quality of childbirth service provision resulted positive or negative externalities on the quality of non-targeted antenatal care provision. This non-randomized controlled pre-post-test study followed the phased enrolment of facilities into a performance-based financing scheme across four districts over a two-year period. Effects of the scheme were assessed by various composite scores measuring facilities’ readiness to provide quality antenatal care, as well as the quality of screening, prevention, and education processes offered during observed antenatal care consultations. Results Our study did not identify any statistically significant effects on the quality of ANC provision attributable to the implemented performance-based financing scheme. Our findings therefore suggest not only the absence of positive externalities, but also the absence of any negative externalities generated within antenatal care service provision as a result of the scheme implementation in Malawi. Conclusions Prior research has shown that the Malawian performance-based financing scheme was sufficiently effective to improve the quality of incentivized childbirth service provision. Our findings further indicate that scheme implementation did not affect the quality of non-incentivized but clinically related antenatal care services. While no positive externalities could be identified, we also did not observe any negative externalities attributable to the scheme’s implementation. While performance-based incentives might be successful in improving targeted health care processes, they have limited potential in producing externalities – neither positive nor negative – on the provision quality of related non-incentivized services.

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INTRODUCTION: Providing medical advice regarding lifestyle changes is currently the most effective intervention for delaying dementia onset among individuals with subjective cognitive decline (SCD). Adherence to such advice can be influenced by individual's social environment. We measured that impact within a Latinamerican population. METHODS: We recruited 183 SCD individuals from a Memory Clinic, analyzed their health‐related, and provided them with medical advice. We assessed personal network composition and its healthy habits. We evaluated adherence to medical advice 6 months later. RESULTS: The proportion of heavy drinkers in the network is a risk factor to reduce alcohol consumption (odds ratio [OR] = 31.2, 95% confidence interval [CI] [3.73,301], p = 0.002), poor diets in the network hinders improving diet (p < 0.001 OR = 74.1, 95% CI [14.7,471]), and sedentary people in the network make it difficult to start exercising (OR = 4.92 95% CI [1.39,18.8], p = 0.016). DISCUSSION: Personal networks have an inertial effect, as relationships engaged in an unhealthy habit lower the probability of individuals to quit that habit. [ABSTRACT FROM AUTHOR]

The V-Cockpit platform aims to transform the design, testing, and validation of car infotainment systems from the physical realm to virtual reality. It uniquely integrates various aspects of the creative phases—from conceptualization to evaluation—streamlining the process and reducing time and costs compared to traditional methods that focus on individual activities and rely heavily on physical prototyping. This technical note provides a comprehensive overview of the main platform's aspects, highlighting the integration of hardware and behavioral analysis algorithms to improve user experience and detect potential design flaws early on. The V-Cockpit platform, composed of six key components, leverages virtual reality and digital twins, promising significant cost savings and enhanced design efficiency. This work details the system architecture, implementation, and first benefits of this innovative approach through the analysis of three use cases. [ABSTRACT FROM AUTHOR]

Abstract Background Gender-related factors might affect vulnerability to Covid-19. The aim of this study was to describe the role of gender on clinical features and 28-day mortality in Covid-19 patients. Methods Observational study of Covid-19 patients hospitalized in Bergamo, Italy, during the first three weeks of the outbreak. Medical records, clinical, radiological and laboratory findings upon admission and treatment have been collected. Primary outcome was 28-day mortality since hospitalization. Results 431 consecutive adult patients were admitted. Female patients were 119 (27.6%) with a mean age of 67.0 ± 14.5 years (vs 67.8 ± 12.5 for males, p = 0.54). Previous history of myocardial infarction, vasculopathy and former smoking habits were more common for males. At the time of admission PaO2/FiO2 was similar between men and women (228 [IQR, 134–273] vs 238 mmHg [150–281], p = 0.28). Continuous Positive Airway Pressure (CPAP) assistance was needed in the first 24 h more frequently in male patients (25.7% vs 13.0%; p = 0.006). Overall 28-day mortality was 26.1% in women and 38.1% in men (p = 0.018). Gender did not result an independent predictor of death once the parameters related to disease severity at presentation were included in the multivariable analysis (p = 0.898). Accordingly, the Kaplan–Meier survival analysis in female and male patients requiring CPAP or non-invasive ventilation in the first 24 h did not find a significant difference (p = 0.687). Conclusion Hospitalized women are less likely to die from Covid-19; however, once severe disease occurs, the risk of dying is similar to men. Further studies are needed to better investigate the role of gender in clinical course and outcome of Covid-19.

Abstract Conventional carbon fibre laminates are known to be moderately electrically conductive in-plane, but have a poor through-thickness conductivity. This poses a problem for functionality aspects that are of increasing importance to industry, such as sensing, current collection, inductive/resistive heating, electromagnetic interference (EMI) shielding, etc. This restriction is of course more pronounced for non-conductive composite reinforcements such as glass, organic or natural fibres. Among various solutions to boost through-thickness electrical conductivity, tufting with hybrid micro-braided metal-carbon fibre yarns is one of the most promising. As a well-characterised method of through thickness reinforcement, tufting is easily implementable in a manufacturing environment. The hybridisation of materials in the braid promotes the resilience and integrity of yarns, while integrating metal wires opens up a wide range of multifunctional applications. Many configurations can be produced by varying braid patterns and the constituting yarns/wires. A predictive design tool is therefore necessary to select the right material configuration for the desired functional and structural performance. This paper suggests a fast and robust method for generating finite-element models of the braids, validates the prediction of micro-architecture and electrical conductivity, and demonstrates successful manufacturing of composites enhanced with braided tufts.

Introduction Numerous evidences point out how migrants use health services differently than the natives. Migrants turn more frequently to the ED for psychiatric problems and less to territorial psychiatric services than the native population. Other differences can be found in terms of diagnosis, type of discharge, type of hospitalization. Objectives Our study has the objective of evaluating the incidence of psychiatric hospitalizations of migrant patients compared to natives in a well-defined area of the metropolitan city of Bologna and evaluate the effect of the Covid 19 pandemic on the incidence of psychiatric hospitalizations among migrants and on their clinical characteristics. Methods The study conducted is of an observational and retrospective type on migrant and native patients admitted to the psychiatric unit “SPDC-Malpighi” of the DSM-DP of Bologna AUSL between 01/01/2018 and 31/12/2020. Results Migrants were more likely to be admitted via ED and less likely to be referred from a CMHC or from non-psychiatric hospital unit compared with natives. Most migrants were discharged at home while natives more frequently chose to self-discharge. With regard to diagnosis, migrants were more likely to be admitted due to a SSD, while natives were more likely to be diagnosed with a MD or SUD. Conclusions We confirm the presence of differences in access to care, type of discharge and type of diagnosis between migrants and natives. Further studies to investigate changes in pre and post Covid admissions in migrants would be needed. Disclosure No significant relationships.

ObjectivesThe present study investigated the association between religious and spiritual (RS) practices with the prevalence, severity, and incidence of mental health problems in older adults.MethodsWe conducted a systematic review and meta-analysis of cross-sectional and longitudinal studies that investigated older adults aged 60+ years and assessed RS using valid scales and questions from valid scales, and mental health according to validated multidimensional or specific instruments. Studies were retrieved from MEDLINE, LILACS, SCOPUS, CINAHL, and AgeLine databases until July 31, 2021. The risk of bias was evaluated using the Newcastle-Ottawa Quality Assessment Scale (NOS). A pooled effect size was calculated based on the log odds ratio (OR) and Z-scores. This study is registered on PROSPERO.ResultsOne hundred and two studies that investigated 79.918 community-dwellers, hospitalized, and institutionalized older adults were included. Results indicated that high RS was negatively associated with anxiety and depressive symptoms, while a positive association was observed with life satisfaction, meaning in life, social relations, and psychological well-being. Specifically, people with high spirituality, intrinsic religiosity, and religious affiliation had a lower prevalence of depressive symptoms. In relation to longitudinal analysis, most studies supported that high RS levels were associated with a lower incidence of depressive symptoms and fear of death, as well as better mental health status.ConclusionFindings of the present study suggest that RS are significantly associated with mental health in older adults. People with high RS levels had a lower prevalence of anxiety and depressive symptoms, as well as reported greater life satisfaction and psychological well-being, better social relations, and more definite meaning in life. Data provided by an increasing number of longitudinal studies have supported most of these findings.

IntroductionAntenatal care (ANC) is one of the pillars of maternal and child health programs aimed at preventing and reducing maternal and child morbidity and mortality. This study aims to identify the factors associated with ANC use, considering both health care demand and supply factors in the single analysis.MethodsWe used data from the endline survey conducted to evaluate the impact of the performance-based financing (PBF) program in Burkina Faso in 2017. This study was a blocked-by-region cluster random trial using a pre–post comparison design. The sample was derived in a three-stage cluster sampling procedure. Data collection for the endline surveys included a household survey and a facility-based survey. Women of childbearing age who gave birth at least once in the past 2 years prior to this survey and residing in the study area for more than 6 months were included in this study. Multilevel statistical techniques were used to examine individual and contextual effects related to health care demand and supply simultaneously and thus measure the relative contribution of the different levels to explaining factors associated with ANC use.ResultsThe working women were five times [odd ratio (OR): 5.41, 95% confidence intervals (CI) 4.36–6.70] more likely to report using ANC services than the women who were not working (OR: 5.41, 95% CI 4.36–6.70). Women living in a community with high poverty concentration were 32.0% (OR: 0.68, 95% CI 0.50–0.91) less likely to use ANC services than those in a community with low poverty concentration. Women living in a community with a medium concentration of women's modern contraceptive use were almost two times (OR: 1.88, 95% CI 1.70–2.12) more likely to use ANC services than those living in a community with a low concentration of women's modern contraceptive use. Women living in the health area where the level of ANC quality was high were three times (OR: 2.96, 95% CI 1.46–6.12) more likely to use ANC services than those in the health area where the ANC quality was low.ConclusionPolicies that increase the opportunity for improving the average ANC quality at the health facility (HF), the level of women's modern contraceptive use and women employment would likely be effective in increasing the frequency of use of antenatal services.

Introduction Major haemorrhage after injury is the leading cause of preventable death for trauma patients. Recent advancements in trauma care suggest damage control resuscitation (DCR) should start in the prehospital phase following major trauma. In Italy, Helicopter Emergency Medical Services (HEMS) assist the most complex injuries and deliver the most advanced interventions including DCR. The effect size of DCR delivered prehospitally on survival remains however unclear.Methods and analysis This is an investigator-initiated, large, national, prospective, observational cohort study aiming to recruit >500 patients in haemorrhagic shock after major trauma. We aim at describing the current practice of hypotensive trauma management as well as propose the creation of a national registry of patients with haemorrhagic shock. Primary objective: the exploration of the effect size of the variation in clinical practice on the mortality of hypotensive trauma patients. The primary outcome measure will be 24 hours, 7-day and 30-day mortality. Secondary outcomes include: association of prehospital factors and survival from injury to hospital admission, hospital length of stay, prehospital and in-hospital complications, hospital outcomes; use of prehospital ultrasound; association of prehospital factors and volume of first 24-hours blood product administration and evaluation of the prevalence of use, appropriateness, haemodynamic, metabolic and effects on mortality of prehospital blood transfusions. Inclusion criteria: age >18 years, traumatic injury attended by a HEMS team including a physician, a systolic blood pressure