Repositori Digital de la UPF

Guies

Enviaments recents

Background: Adiposity can be measured using BMI (which is based on weight and height) as well as indices of abdominal adiposity. We examined the association between BMI and waist-to-height ratio (WHtR) within and across populations of different world regions and quantified how well these two metrics discriminate between people with and without hypertension. Methods: We used data from studies carried out from 1990 to 2023 on BMI, WHtR and hypertension in people aged 20-64 years in representative samples of the general population in eight world regions. We graphically compared the regional distributions of BMI and WHtR, and calculated Pearson's correlation coefficients between BMI and WHtR within each region. We used mixed-effects linear regression to estimate the extent to which WHtR varies across regions at the same BMI. We graphically examined the prevalence of hypertension and the distribution of people who have hypertension both in relation to BMI and WHtR, and we assessed how closely BMI and WHtR discriminate between participants with and without hypertension using C-statistic and net reclassification improvement (NRI). Findings: The correlation between BMI and WHtR ranged from 0·76 to 0·89 within different regions. After adjusting for age and BMI, mean WHtR was highest in south Asia for both sexes, followed by Latin America and the Caribbean and the region of central Asia, Middle East and north Africa. Mean WHtR was lowest in central and eastern Europe for both sexes, in the high-income western region for women, and in Oceania for men. Conversely, to achieve an equivalent WHtR, the BMI of the population of south Asia would need to be, on average, 2·79 kg/m2 (95% CI 2·31-3·28) lower for women and 1·28 kg/m2 (1·02-1·54) lower for men than in the high-income western region. In every region, hypertension prevalence increased with both BMI and WHtR. Models with either of these two adiposity metrics had virtually identical C-statistics and NRIs for every region and sex, with C-statistics ranging from 0·72 to 0·81 and NRIs ranging from 0·34 to 0·57 in different region and sex combinations. When both BMI and WHtR were used, performance improved only slightly compared with using either adiposity measure alone. Interpretation: BMI can distinguish young and middle-aged adults with higher versus lower amounts of abdominal adiposity with moderate-to-high accuracy, and both BMI and WHtR distinguish people with or without hypertension. However, at the same BMI level, people in south Asia, Latin America and the Caribbean, and the region of central Asia, Middle East and north Africa, have higher WHtR than in the other regions. Funding: UK Medical Research Council and UK Research and Innovation (Innovate UK).
(2024) NCD Risk Factor Collaboration (NCD-RisC)
Background: Diabetes can be detected at the primary health-care level, and effective treatments lower the risk of complications. There are insufficient data on the coverage of treatment for diabetes and how it has changed. We estimated trends from 1990 to 2022 in diabetes prevalence and treatment for 200 countries and territories. Methods: We used data from 1108 population-representative studies with 141 million participants aged 18 years and older with measurements of fasting glucose and glycated haemoglobin (HbA1c), and information on diabetes treatment. We defined diabetes as having a fasting plasma glucose (FPG) of 7·0 mmol/L or higher, having an HbA1c of 6·5% or higher, or taking medication for diabetes. We defined diabetes treatment as the proportion of people with diabetes who were taking medication for diabetes. We analysed the data in a Bayesian hierarchical meta-regression model to estimate diabetes prevalence and treatment. Findings: In 2022, an estimated 828 million (95% credible interval [CrI] 757-908) adults (those aged 18 years and older) had diabetes, an increase of 630 million (554-713) from 1990. From 1990 to 2022, the age-standardised prevalence of diabetes increased in 131 countries for women and in 155 countries for men with a posterior probability of more than 0·80. The largest increases were in low-income and middle-income countries in southeast Asia (eg, Malaysia), south Asia (eg, Pakistan), the Middle East and north Africa (eg, Egypt), and Latin America and the Caribbean (eg, Jamaica, Trinidad and Tobago, and Costa Rica). Age-standardised prevalence neither increased nor decreased with a posterior probability of more than 0·80 in some countries in western and central Europe, sub-Saharan Africa, east Asia and the Pacific, Canada, and some Pacific island nations where prevalence was already high in 1990; it decreased with a posterior probability of more than 0·80 in women in Japan, Spain, and France, and in men in Nauru. The lowest prevalence in the world in 2022 was in western Europe and east Africa for both sexes, and in Japan and Canada for women, and the highest prevalence in the world in 2022 was in countries in Polynesia and Micronesia, some countries in the Caribbean and the Middle East and north Africa, as well as Pakistan and Malaysia. In 2022, 445 million (95% CrI 401-496) adults aged 30 years or older with diabetes did not receive treatment (59% of adults aged 30 years or older with diabetes), 3·5 times the number in 1990. From 1990 to 2022, diabetes treatment coverage increased in 118 countries for women and 98 countries for men with a posterior probability of more than 0·80. The largest improvement in treatment coverage was in some countries from central and western Europe and Latin America (Mexico, Colombia, Chile, and Costa Rica), Canada, South Korea, Russia, Seychelles, and Jordan. There was no increase in treatment coverage in most countries in sub-Saharan Africa; the Caribbean; Pacific island nations; and south, southeast, and central Asia. In 2022, age-standardised treatment coverage was lowest in countries in sub-Saharan Africa and south Asia, and treatment coverage was less than 10% in some African countries. Treatment coverage was 55% or higher in South Korea, many high-income western countries, and some countries in central and eastern Europe (eg, Poland, Czechia, and Russia), Latin America (eg, Costa Rica, Chile, and Mexico), and the Middle East and north Africa (eg, Jordan, Qatar, and Kuwait). Interpretation: In most countries, especially in low-income and middle-income countries, diabetes treatment has not increased at all or has not increased sufficiently in comparison with the rise in prevalence. The burden of diabetes and untreated diabetes is increasingly borne by low-income and middle-income countries. The expansion of health insurance and primary health care should be accompanied with diabetes programmes that realign and resource health services to enhance the early detect
(2024) NCD Risk Factor Collaboration (NCD-RisC)
The rising volume of primary hip and knee arthroplasties has led to a parallel increase in revision surgeries, creating significant clinical and economic challenges for healthcare systems worldwide. This study synthesizes national arthroplasty registry data to evaluate trends in revision aetiology, associated costs and regional disparities. While advancements in prosthetic design have reduced aseptic loosening rates (declining to 35.1% for hips and 18.3% for knees), septic complications now account for a growing proportion of revision cases, rising to 18.2% for hips and 21.6% for knees. Additionally, instability and malalignment persist at 15.9% and 14.1%, respectively. Revision procedures are 76% more costly than primary surgeries, with two-stage septic revisions incurring costs of up to $37,297 per case. Beyond direct surgical costs, prolonged recovery and productivity loss contribute to a broader economic impact. Regional variations, such as higher periprosthetic fracture rates in England and Wales, highlight inconsistencies in data reporting and healthcare practices. Addressing these challenges requires standardized infection definitions, enhanced registry collaboration and investment in infection prevention strategies. The role of referral centres in improving outcomes and reducing costs through multidisciplinary care is increasingly recognized. By integrating evidence-based infection management protocols and leveraging emerging technologies, the orthopaedic community can optimize patient outcomes and reduce the financial burden of revising arthroplasties.
(2025) Sadoghi, Patrick; Koutp, Amir; Pérez-Prieto, Daniel; Clauss, Martin; Kayaalp, M. Enes; Hirschmann, Michael
The major spliceosome includes five small nuclear RNA (snRNAs), U1, U2, U4, U5 and U6, each of which is encoded by multiple genes. We recently showed that mutations in RNU4-2, the gene that encodes the U4-2 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders. Here, we report that recurrent germline mutations in RNU2-2 (previously known as pseudogene RNU2-2P), a 191-bp gene that encodes the U2-2 snRNA, are responsible for a related disorder. By genetic association, we identified recurrent de novo single-nucleotide mutations at nucleotide positions 4 and 35 of RNU2-2 in nine cases. We replicated this finding in 16 additional cases, bringing the total to 25. We estimate that RNU2-2 syndrome has a prevalence of ~20% that of RNU4-2 syndrome. The disorder is characterized by intellectual disability, autistic behavior, microcephaly, hypotonia, epilepsy and hyperventilation. All cases display a severe and complex seizure phenotype. We found that U2-2 and canonical U2-1 were similarly expressed in blood. Despite mutant U2-2 being expressed in patient blood samples, we found no evidence of missplicing. Our findings cement the role of major spliceosomal snRNAs in the etiologies of neurodevelopmental disorders.
(2025) Greene, Daniel; Sevilla-Porras, Marta; Pérez Jurado, Luis Alberto; Turro, Ernest
Los profesionales del sistema de salud merecen una buena gestión, y España, estancada en su productividad, la necesita. Una buena gestión es posible, como se comprobó durante los estados de alarma de 2020. Nada de lo aprendido se ha consolidado. No sirve el extremo de considerar oxímoron el término «gestión pública», pues nunca en la historia se ha precisado mejor estado que ahora, además de mejor mercado, por razones que van más allá de la consolidación del estado del bienestar. Tampoco sirve el extremo opuesto de pensar que fuera del funcionariado no hay salvación: la esclerosis burocratizante,uno de los signos de deterioro, enfocada exclusivamente a la legalidad, o como mínimo a su apariencia, no puede continuar ignorando que también se precisa efectividad. Se sabe medir la calidad de la gestión, en general y en el sector sanitario, y hay conocimiento acerca de cómo mejorarla. Modelos más flexibles de relaciones laborales --para seleccionar, reclutar y retener con criterios de «igualdad, mérito y capacidad» mejorados-- requieren modificaciones en la arquitectura institucional como las que este artículo plantea:competencia por comparación en calidad entre centros autónomos y responsables que comparten reglas de juego en un terreno nivelado. El sistema sanitario, la joya del país, gracias en gran parte a la calidad de sus recursos humanos, no tan solo merece que sus potencialidades sean liberadas, sino que puede liderar el imprescindible aumento de la capacidad resolutiva, que asegura su impacto en el bienestar social, así como plasmar en propiedad intelectual su capacidad investigadora e innovadora con el consecuente impacto en el producto interior bruto.
(2024) Negrín Hernández, Miguel Ángel; Ortún Rubio, Vicente