17 research outputs found

    Natural History of MYH7-Related Dilated Cardiomyopathy

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    BACKGROUND: Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVE: We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS: We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 ± 19.2 years) recruited from 29 international centers. RESULTS: At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% ± 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of ≤35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare

    Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study

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    Summary Background Congenital anomalies are the fifth leading cause of mortality in children younger than 5 years globally. Many gastrointestinal congenital anomalies are fatal without timely access to neonatal surgical care, but few studies have been done on these conditions in low-income and middle-income countries (LMICs). We compared outcomes of the seven most common gastrointestinal congenital anomalies in low-income, middle-income, and high-income countries globally, and identified factors associated with mortality. Methods We did a multicentre, international prospective cohort study of patients younger than 16 years, presenting to hospital for the first time with oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis, exomphalos, anorectal malformation, and Hirschsprung’s disease. Recruitment was of consecutive patients for a minimum of 1 month between October, 2018, and April, 2019. We collected data on patient demographics, clinical status, interventions, and outcomes using the REDCap platform. Patients were followed up for 30 days after primary intervention, or 30 days after admission if they did not receive an intervention. The primary outcome was all-cause, in-hospital mortality for all conditions combined and each condition individually, stratified by country income status. We did a complete case analysis. Findings We included 3849 patients with 3975 study conditions (560 with oesophageal atresia, 448 with congenital diaphragmatic hernia, 681 with intestinal atresia, 453 with gastroschisis, 325 with exomphalos, 991 with anorectal malformation, and 517 with Hirschsprung’s disease) from 264 hospitals (89 in high-income countries, 166 in middleincome countries, and nine in low-income countries) in 74 countries. Of the 3849 patients, 2231 (58·0%) were male. Median gestational age at birth was 38 weeks (IQR 36–39) and median bodyweight at presentation was 2·8 kg (2·3–3·3). Mortality among all patients was 37 (39·8%) of 93 in low-income countries, 583 (20·4%) of 2860 in middle-income countries, and 50 (5·6%) of 896 in high-income countries (p<0·0001 between all country income groups). Gastroschisis had the greatest difference in mortality between country income strata (nine [90·0%] of ten in lowincome countries, 97 [31·9%] of 304 in middle-income countries, and two [1·4%] of 139 in high-income countries; p≤0·0001 between all country income groups). Factors significantly associated with higher mortality for all patients combined included country income status (low-income vs high-income countries, risk ratio 2·78 [95% CI 1·88–4·11], p<0·0001; middle-income vs high-income countries, 2·11 [1·59–2·79], p<0·0001), sepsis at presentation (1·20 [1·04–1·40], p=0·016), higher American Society of Anesthesiologists (ASA) score at primary intervention (ASA 4–5 vs ASA 1–2, 1·82 [1·40–2·35], p<0·0001; ASA 3 vs ASA 1–2, 1·58, [1·30–1·92], p<0·0001]), surgical safety checklist not used (1·39 [1·02–1·90], p=0·035), and ventilation or parenteral nutrition unavailable when needed (ventilation 1·96, [1·41–2·71], p=0·0001; parenteral nutrition 1·35, [1·05–1·74], p=0·018). Administration of parenteral nutrition (0·61, [0·47–0·79], p=0·0002) and use of a peripherally inserted central catheter (0·65 [0·50–0·86], p=0·0024) or percutaneous central line (0·69 [0·48–1·00], p=0·049) were associated with lower mortality. Interpretation Unacceptable differences in mortality exist for gastrointestinal congenital anomalies between lowincome, middle-income, and high-income countries. Improving access to quality neonatal surgical care in LMICs will be vital to achieve Sustainable Development Goal 3.2 of ending preventable deaths in neonates and children younger than 5 years by 2030

    Basque Cooperativism

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    Cooperative companies form part of the social economy—a third economic sector beyond the private and public spheres that embraces community, voluntary, and nonprofit activities. While corporations distribute their surpluses in relation to the capital contributions of shareholders, cooperatives do so according to activity of their members; in short, in a cooperative, capital is subordinate to work. The cooperative spirit has been an important feature of Basque society, from the traditional auzolan (literally, "neighborhood work") to the development of major cooperative companies like Alfa, Fagor and ultimately Mondragon, the largest cooperative in the world and a major supplier of products and services nationally and internationally. This book focuses on the changes and challenges faced by the social economy in general and Basque cooperatives in particular in light of the crisis of the welfare state, the growth of neoliberal doctrines and greater privatization, and most recently of all, the global financial crisis. The book is divided into three parts: Part 1 analyzes the origins, values, and culture of Basque cooperativism. Part 2 focuses on innovation in and the management system of Basque cooperatives as a source of competitive advantage vis-à-vis traditional corporations. Finally, part 3 addresses the response of Basque cooperatives to globalization in general and the current global financial crisis in particular.This book was published with generous financial support from the Basque Government.Introduction: Baleren Bakaikoa Azurmendi and Eneka Albizu ? 1. The Spirituality of Economics: Historical Roots of Mondragon, 1940-1974 by Fernando Molina ? 2. Culture and Social Representations of Work among Basques: Implications for Organizational Commitment and Cooperative Attitudes by Javier Cerrato Allende ? 3. Developing Intercooperation in the Social Economy: An Analysis of Grant Recipients in the Basque Country by Jon Morandeira Arca, Baleren Bakaikoa Azurmendi, and Victoria de Elizagarate Gutierrez ? 4. Accounting Reform: The Case of Workers' Self-Managed Cooperatives by Miguel Ángel Zubiaurre Artola ? 5. Is Innovation Better Managed by Corporations than Social Economy Companies? A Comparative Study of Innovative Basque Companies by Sara Fernández de Bobadilla Güemez and Eva Velasco Balmaseda ? 6. Innovation in the Basque Country: An Examination of the Cooperative Situation by Antón Borja Alvarez ? 7. Sources of Competitive Advantage in the Mondragon Cooperative Group by Imanol Basterretxea Markaida ? 8. Basque Cooperatives and the Crisis: The Case of Mondragon by Itziar Villafañez Pérez ? 9. Characteristics of Human Resource Management in Basque Cooperatives and Their Response to New International Contexts by Aitziber Lertxundi ? 10. Globalization and Knowledge Management in the Industrial Cooperatives of the Mondragon Corporation by Antxon Mendizábal ? Index ? List of Contributor
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