The Prevalence and Epidemiological Features of Ischaemic Heart Disease in Sri Lanka

Background: There is limited evidence on the prevalence of ischaemic heart disease (IHD) and its association with risk factors and socioeconomic status (SES) in low- and middle-income countries (LMICs). Given the relatively high levels of access to healthcare in Sri Lanka, the association of IHD with SES may be different from that observed in other LMICs. Objectives: To estimate the prevalence of IHD in Sri Lanka, determine its associated risk factors and its association with SES. Methods: We analysed data from 6,513 adults aged ≥18 years examined in the 2018/19 Sri Lanka Health and Ageing Study. We used the Rose angina questionnaire to classify participants as having angina (Angina+) and used self-report or medical records to identify participants with a history of IHD (History+). The association of Angina+ and History+ with age, ethnicity, sector of residence, education level, household SES wealth quintile, area SES wealth quintile, hypertension, diabetes, smoking, total cholesterol, cholesterol-to-HDL ratio, waist-to-hip ratio and body mass index were analysed in unadjusted and adjusted models. Additional analyses were performed to investigate sensitivity to correction for missing data and to benchmark estimates against evidence from other studies. Conclusions: We estimated prevalence of History+ of 3.9% (95% CI 3.3%-4.4%) and Angina+ of 3.0% (95% CI 2.4%-3.5%) in adults aged 18 years and over. The prevalence of Angina+ was higher in women than men (3.9% vs. 1.9%, p &lt; 0.001) whilst prevalence of History+ was lower (3.8% vs. 4.0%, p = 0.8), which may suggest a higher rate of undiagnosed IHD in women. A history of IHD was strongly associated with age, hypertension and diabetes status even after adjusting for sociodemographic factors. Though the prevalence of History+ was higher in the most developed area SES tertile and urban areas, History+ was also associated with less education but not household SES, consistent with patterns emerging from other LMICs.</p

The Prevalence and Epidemiological Features of Ischaemic Heart Disease in Sri Lanka

Background: There is limited evidence on the prevalence of ischaemic heart disease (IHD) and its association with risk factors and socioeconomic status (SES) in low- and middle-income countries (LMICs). Given the relatively high levels of access to healthcare in Sri Lanka, the association of IHD with SES may be different from that observed in other LMICs. Objectives: To estimate the prevalence of IHD in Sri Lanka, determine its associated risk factors and its association with SES. Methods: We analysed data from 6,513 adults aged ≥18 years examined in the 2018/19 Sri Lanka Health and Ageing Study. We used the Rose angina questionnaire to classify participants as having angina (Angina+) and used self-report or medical records to identify participants with a history of IHD (History+). The association of Angina+ and History+ with age, ethnicity, sector of residence, education level, household SES wealth quintile, area SES wealth quintile, hypertension, diabetes, smoking, total cholesterol, cholesterol-to-HDL ratio, waist-to-hip ratio and body mass index were analysed in unadjusted and adjusted models. Additional analyses were performed to investigate sensitivity to correction for missing data and to benchmark estimates against evidence from other studies. Conclusions: We estimated prevalence of History+ of 3.9% (95% CI 3.3%-4.4%) and Angina+ of 3.0% (95% CI 2.4%-3.5%) in adults aged 18 years and over. The prevalence of Angina+ was higher in women than men (3.9% vs. 1.9%, p &lt; 0.001) whilst prevalence of History+ was lower (3.8% vs. 4.0%, p = 0.8), which may suggest a higher rate of undiagnosed IHD in women. A history of IHD was strongly associated with age, hypertension and diabetes status even after adjusting for sociodemographic factors. Though the prevalence of History+ was higher in the most developed area SES tertile and urban areas, History+ was also associated with less education but not household SES, consistent with patterns emerging from other LMICs.</p

Cost-Effectiveness and Distributional Impact of Opportunistic Screening for People at High-Risk of Cardiovascular Disease in Sri Lanka: A Modelling Study

Background: While hypertension, diabetes, hypercholesterolemia and high-risk of cardiovascular disease can be easily diagnosed and treated with cost-effective medicines, a large proportion of people remain undiagnosed. We assessed the potential effectiveness, cost, and distributional impact of opportunistically screening for these chronic conditions at outpatient patient departments in Sri Lanka. Methods: We used nationally representative data on biomarkers and healthcare utilization in 2019 to model the screening of people aged 40+ without preexisting CVD and without a reported diagnosis of hypertension, diabetes, or hypercholesterolemia. We modelled an intensive one month program that would screen a proportion of those making an outpatient visit to a public or private clinic and follow-up a proportion of those screened to confirm diagnoses. We also modelled a less intensive one year program. The main outcomes were the new diagnoses of any of the chronic conditions. Program costs were calculated and the socioeconomic distributions of individuals screened, new cases diagnosed, and treatments delivered were estimated. Sensitivity analyses varied the probability of screening and follow-up. Results: Using data on 2,380 survey participants who met the inclusion criteria, we estimated that the one month program would diagnose 8.2% (95% CI: 6.8, 9.6) of those with a chronic condition who would remain undiagnosed without the program. The one year program would diagnose 26.9% (95% CI: 26.5, 27.4) of the otherwise undiagnosed and would have a cost per person newly diagnosed of USD 6.82 (95% CI: 6.61, 7.03) in the public sector and USD 16.92 (95% CI: 16.37, 17.47) in the private sector. New diagnoses would be evenly distributed over the socioeconomic distribution, with public (private) clinics diagnosing a higher proportion of poorer (richer) individuals. Both programs would reduce underdiagnosis among males relative to females. Conclusions: Opportunistic screening for cardiovascular diseases at outpatient clinics in Sri Lanka could be cost-effective and equitable

Soy un sectario

The combination of skull defects in the form of enlarged parietal foramina (PFM) and deficient ossification of the clavicles is known as parietal foramina with cleidocranial dysplasia (PFMCCD). It is considered to be distinct from classical cleidocranial dysplasia (CCD) and is listed as a separate OMIM entry (168550). So far, only two families have been reported and the molecular basis of the disorder is unknown. We present a third family with PFMCCD, comprising four affected individuals in three generations, and demonstrate that a heterozygous tetranucleotide duplication in the MSX2 homeobox gene (505_508dupATTG) segregates with the phenotype. PFMCCD is indeed aetiologically distinct from CCD, which is caused by mutations in the RUNX2 gene, but allelic with isolated PFM, in which MSX2 mutations were previously identified. Our observations highlight the role of MSX2 in clavicular development and the importance of radiological examination of the clavicles in subjects with PFM

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal origin of mutation and elevated paternal age (“paternal age effect”). However, even if this is the major mode of origin of mutations in paternal age-effect disorders, germline mosaicism may also occur. Here we describe the first molecularly documented evidence of germline and somatic mosaicism for FGFR2 mutation, identified in the mother of a child with Crouzon syndrome caused by a heterozygous c.1007A>G (p.Asp336Gly) substitution. Levels of maternal somatic mosaicism for this mutation, estimated by pyrosequencing, ranged from 3.3% in hair roots to 14.1% in blood. Our observation underlines the importance of parental molecular testing for accurate genetic counseling of the risk of recurrence for Crouzon, and other paternal age-effect syndromes. © 2010 Wiley-Liss, Inc

Financing Universal Coverage in Malaysia: a case study

One of the challenges to maintain an agenda for universal coverage and equitable health system is to develop effective structuring and management of health financing. Global experiences with different systems of health financing suggests that a strong public role in health financing is essential for health systems to protect the poor and health systems with the strongest state role are likely the more equitable and achieve better aggregate health outcomes. Using Malaysia as a case study, this paper seeks to evaluate the progress and capacity of a middle income country in terms of health financing for universal coverage, and also to highlight some of the key underlying health systems challenges

Hearing loss in a mouse model of Muenke syndrome

The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. Since FGF signalling plays dosage-sensitive roles in the differentiation of the auditory sensory epithelium, we evaluated hearing in a large group of Muenke syndrome subjects, as well as in the corresponding mouse model (Fgfr3P244R). The Muenke syndrome cohort showed significant, but incompletely penetrant, predominantly low-frequency sensorineural hearing loss, and the Fgfr3P244R mice showed dominant, fully penetrant hearing loss that was more severe than that in Muenke syndrome individuals, but had the same pattern of relative high-frequency sparing. The mouse hearing loss correlated with an alteration in the fate of supporting cells (Deiters'-to-pillar cells) along the entire length of the cochlear duct, with the most extreme abnormalities found at the apical or low-frequency end. In addition, there was excess outer hair cell development in the apical region. We conclude that low-frequency sensorineural hearing loss is a characteristic feature of Muenke syndrome and that the genetically equivalent mouse provides an excellent model that could be useful in testing hearing loss therapies aimed at manipulating the levels of FGF signalling in the inner ear

Countdown to 2015 country case studies: what can analysis of national health financing contribute to understanding MDG 4 and 5 progress?

Background: Countdown to 2015 (Countdown) supported countries to produce case studies that examine how and why progress was made toward the Millennium Development Goals (MDGs) 4 and 5. Analysing how health-financing data explains improvements in RMNCH outcomes was one of the components to the case studies. Methods: This paper presents a descriptive analysis on health financing from six Countdown case studies (Afghanistan, Ethiopia, Malawi, Pakistan, Peru, and Tanzania), supplemented by additional data from global databases and country reports on macroeconomic, health financing, demographic, and RMNCH outcome data as needed. It also examines the effect of other contextual factors presented in the case studies to help interpret health-financing data. Results: Dramatic increases in health funding occurred since 2000, where the MDG agenda encouraged countries and donors to invest more resources on health. Most low-income countries relied on external support to increase health spending, with an average 20–64 % of total health spending from 2000 onwards. Middle-income countries relied more on government and household spending. RMNCH funding also increased since 2000, with an average increase of 119 % (2005–2010) for RMNH expenditures (2005–2010) and 165 % for CH expenditures (2005–2011). Progress was made, especially achieving MDG 4, even with low per capita spending; ranging from US$16 to US$44 per child under 5 years among low-income countries. Improvements in distal factors were noted during the time frame of the analysis, including rapid economic growth in Ethiopia, Peru, and Tanzania and improvements in female literacy as documented in Malawi, which are also likely to have contributed to MDG progress and achievements. Conclusions: Increases in health and RMNCH funding accompanied improvements in outcomes, though low-income countries are still very reliant on external financing, and out-of-pocket comprising a growing share of funds in middle-income settings. Enhancements in tracking RMNCH expenditures across countries are still needed to better understand whether domestic and global health financing initiatives lead to improved outcomes as RMNCH continues to be a priority under the Sustainable Development Goals. Electronic supplementary material The online version of this article (doi:10.1186/s12889-016-3403-4) contains supplementary material, which is available to authorized users

The iHealth-T2D study, prevention of type 2 diabetes amongst South Asians with central obesity and prediabetes: study protocol for a randomised controlled trial

Copyright © 2021 The Author(s). Background: People from South Asia are at increased risk of type 2 diabetes (T2D). There is an urgent need to develop approaches for the prevention of T2D in South Asians that are cost-effective, generalisable and scalable across settings. Hypothesis: Compared to usual care, the risk of T2D can be reduced amongst South Asians with central obesity or raised HbA1c, through a 12-month lifestyle modification programme delivered by community health workers. Design: Cluster randomised clinical trial (1:1 allocation to intervention or usual care), carried out in India, Pakistan, Sri Lanka and the UK, with 30 sites per country (120 sites total). Target recruitment 3600 (30 participants per site) with annual follow-up for 3 years. Entry criteria: South Asian, men or women, age 40–70 years with (i) central obesity (waist circumference ≥ 100 cm in India and Pakistan; ≥90 cm in Sri Lanka) and/or (ii) prediabetes (HbA1c 6.0–6.4% inclusive). Exclusion criteria: known type 1 or 2 diabetes, normal or underweight (body mass index < 22 kg/m2); pregnant or planning pregnancy; unstable residence or planning to leave the area; and serious illness. Endpoints: The primary endpoint is new-onset T2D at 3 years, defined as (i) HbA1c ≥ 6.5% or (ii) physician diagnosis and on treatment for T2D. Secondary endpoints at 1 and 3 years are the following: (i) physical measures: waist circumference, weight and blood pressure; (ii) lifestyle measures: smoking status, alcohol intake, physical activity and dietary intake; (iii) biochemical measures: fasting glucose, insulin and lipids (total and HDL cholesterol, triglycerides); and (iv) treatment compliance. Intervention: Lifestyle intervention (60 sites) or usual care (60 sites). Lifestyle intervention was delivered by a trained community health worker over 12 months (5 one-one sessions, 4 group sessions, 13 telephone sessions) with the goal of the participants achieving a 7% reduction in body mass index and a 10-cm reduction in waist circumference through (i) improved diet and (ii) increased physical activity. Usual care comprised a single 30-min session of lifestyle modification advice from the community health worker. Results: We screened 33,212 people for inclusion into the study. We identified 10,930 people who met study entry criteria, amongst whom 3682 agreed to take part in the intervention. Study participants are 49.2% female and aged 52.8 (SD 8.2) years. Clinical characteristics are well balanced between intervention and usual care sites. More than 90% of follow-up visits are scheduled to be complete in December 2020. Based on the follow-up to end 2019, the observed incidence of T2D in the study population is in line with expectations (6.1% per annum). Conclusion: The iHealth-T2D study will advance understanding of strategies for the prevention of diabetes amongst South Asians, use approaches for screening and intervention that are adapted for low-resource settings. Our study will thus inform the implementation of strategies for improving the health and well-being of this major global ethnic group. IRB approval: 16/WM/0171 Trial registration: EudraCT 2016-001350-18. Registered on 14 April 2016. ClinicalTrials.govNCT02949739. Registered on 31 October 2016, First posted on 31/10/2016.European Union H2020 program (iHealth-T2D, 643774); National Institute for Health Research (NIHR) (16/136/68) using UK aid from the UK Government to support global health research