19 research outputs found

    Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

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    Background Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8–13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05–6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50–75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life. Funding Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron

    Lawson criterion for ignition exceeded in an inertial fusion experiment

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    For more than half a century, researchers around the world have been engaged in attempts to achieve fusion ignition as a proof of principle of various fusion concepts. Following the Lawson criterion, an ignited plasma is one where the fusion heating power is high enough to overcome all the physical processes that cool the fusion plasma, creating a positive thermodynamic feedback loop with rapidly increasing temperature. In inertially confined fusion, ignition is a state where the fusion plasma can begin "burn propagation" into surrounding cold fuel, enabling the possibility of high energy gain. While "scientific breakeven" (i.e., unity target gain) has not yet been achieved (here target gain is 0.72, 1.37 MJ of fusion for 1.92 MJ of laser energy), this Letter reports the first controlled fusion experiment, using laser indirect drive, on the National Ignition Facility to produce capsule gain (here 5.8) and reach ignition by nine different formulations of the Lawson criterion

    Chemical and microbiological risk assessment of urban river water quality in Vietnam

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    © 2019, Springer Nature B.V. Abstract: The contamination and risk by nutrients (NH4+, NO2−, NO3− and PO43−), COD, BOD5, coliform and potentially toxic elements (PTEs) of As, Cd, Ni, Hg, Cu, Pb, Zn and Cr were investigated in urban river (Nhue River), Vietnam during 2010–2017. The extensive results demonstrated that concentrations of these contaminants showed significant spatial and temporal variations. The Nhue River was seriously polluted by NH4+ (0.025–11.28 mg/L), PO43− (0.17–1.72 mg/L), BOD5 (5.8–179.6 mg/L), COD (1.4–239.8 mg/L) and coliform (1540–326,470 CFU/100 mL); moderately polluted by As (0.2–131.15 μg/L) and Hg (0.11–4.1 μg/L); and slightly polluted by NO2− (0.003–0.33 mg/L) and Cd (2.1–18.2 μg/L). The concentrations of NH4+, PO43−, COD, BOD5 and coliform frequently exceeded both drinking water guidelines and irrigation water standards. Regarding PTEs, As, Cd and Hg concentrations were frequently higher than the regulatory limits. Human health risks of PTEs were evaluated by estimating hazard index (HI) and cancer risk through ingestion and dermal contacts for adults and children. The findings indicated that As was the most important pollutant causing both non-carcinogenic and carcinogenic concerns. The non-carcinogenic risks of As were higher than 1.0 at all sites for both adults (HI = 1.83–7.4) and children (HI = 2.6–10.5), while As posed significant carcinogenic risks for adults (1 × 10−4−4.96 × 10−4). A management strategy for controlling wastewater discharge and protecting human health is urgently needed. Graphical abstract: [Figure not available: see fulltext.

    High prevalence of overweight among adolescents in Ho Chi Minh City, Vietnam

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    Background: Two previous surveys conducted in Ho Chi Minh City revealed an increasing prevalence of overweight and obese adolescents, from 5.9% in 2002 to 11.7% in 2004. From 2004 to 2010, the government set up and implemented health promotion programs to promote physical activity and good nutritional habits in order to prevent overweight and obesity in children and adolescents. Our study aimed to estimate the prevalence of overweight and obesity among adolescents in urban areas of Ho Chi Minh City in 2010. Methods. A representative sample of 1,989 students aged 11-14 years was selected using a multistage cluster sampling method. 23 schools were randomly selected from the full list of all public junior high schools. In each selected school, 2 classes were chosen at random and all students from the class were examined. Age- and sex-adjusted overweight and obesity were defined using International Obesity Taskforce cut-offs. Results: The prevalences of overweight and obesity were 17.8% and 3.2%, respectively. Prevalences of overweight and obesity were significantly higher in boys (22%, 5.4%) than in girls (13.3%, 1.3%, p<0.001) and higher in children from districts with a high economic level (20.5%, 3.8%) than in those from districts with a low economic level (12.1%, 3.8%, p<0.001). Additionally, children living in wealthier families were more overweight and obese than those living in less wealthy families. When using WHO cutoffs, the overall prevalences of overweight and obesity reached 19.6% and 7.9%, respectively. Conclusion: Our study's findings suggest that the prevalence of overweight and obesity among secondary school students remains high, especially among boys living in wealthier families. Public health programs should therefore be developed or improved in order to promote good eating habits and physical activity among youth in HCMC. © 2013 Ngoc Nguyen et al; licensee BioMed Central Ltd
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