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

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

Nurses' perceptions of aids and obstacles to the provision of optimal end of life care in ICU

Contains fulltext : 172380.pdf (publisher's version ) (Open Access

Revista Chilena de Pediatría: 90 years of story

ReviewRevista Chilena de Pediatría (RCHP) se ha publicado en forma ininterrumpida desde su primera edición en enero de 1930, sorteando vaivenes políticos y económicos, innovación tecnológica y transformaciones sociales. El objetivo del presente manuscrito es homenajear y agradecer a los editores que participaron tan activamente de la publicación de RCHP y repasar los grandes hitos, que la han llevado al posicionamiento que tiene hoy como revista de corriente principal. Desde su ingreso al mundo digital hace 2 décadas, se ha registrado un importante aumento en el flujo de manuscritos recibidos, participación de autores extranjeros, citas recibidas y ascenso en los rankings internacionales. En el año 2014 RCHP fue incorporada a la National Library of Medicine (NLM) y el 2017 al Emerging Sources Citation Index (ESCI) mientras se evalúa para recibir un Factor de Impacto (FI) de parte del Journal Citation Report (JCR). Como revista representante de una sociedad científica, es fundamental mantener el equilibrio entre la sustentabilidad científica y la económica, entre la promoción de la publicación nacional y la internacionalización, entre el impacto científico requerido para continuar ascendiendo en los rankings internacionales y su rol en la educación continua, con impacto en la atención y cuidado de nuestros niños, en los distintos rincones del país.Revista Chilena de Pediatría (RCHP) has been published uninterruptedly since its first edition in January 1930, beyond political and economic fluctuations, technological innovation, and social transformations. The objective of this article is to pay tribute to and thank the editors who participated so actively in the publication of the RCHP and to review the major milestones, which have led it to the position it has today as a mainstream magazine. Since its entry into the digital world two decades ago, there has been a significant increase in the flow of manuscripts received, participation of foreign authors, citations received and promotion in international rankings. In 2014, the RCHP was incorporated into the National Library of Medicine (NLM) and, in 2017, into the Emerging Sources Citation Index (ESCI), while evaluating to receive an Impact Factor (IF) from the Journal Citation Report (JCR). As a representative magazine of a scientific society, it is essential to maintain a balance between scientific and economic sustainability, the promotion of national and international publication, the scientific impact need for continuing rising in international rankings, and the impact on our children›s care in the different corners of the country

Childhood leukemia and non-Hodgkin’s lymphoma survivors lack knowledge about their past disease and possible late effects. I-BFM ELTEC study with Chilean and Croatian participation

Purpose: Late effects in childhood cancer survivors are a major cause of morbidity and mortality. The objective was to establish knowledge about the disease, late effects, self-care practices, application of health knowledge/education, sources of information, and biopsychosocial impact of cancer, and compare the results of Chile and Croatia. Methods: One-hundred-and-seventy-one, 5-year survivors who were treated for leukemia or non-Hodgkin's lymphoma responded to a questionnaire (119 in Chile and 52 in Croatia). The questionnaire was reviewed by BFM-ELTEC. Results: Health knowledge about past diagnosis and general treatment had 96% Chilean and 85% Croatian survivors. Ninety percent of Chilean and 73% of Croatian survivors were unaware of possible late effects, and half did not know which specialist to visit for follow-up. Forty-six percent of Chilean and 35% of Croatian survivors knew about healthy lifestyles, but most did not practice them. The 74% of Chileans and 87% of Croatian survivors recalled having received health education during treatment. About 50% of survivors in both groups were afraid or anguish, but it was also a growth experience for 60% of Chilean and 42% of Croatian survivors. Eighty-seven percent Chilean and 77% Croatian survivors considered themselves physically independent, while 76% and 75% felt psychologically independent, respectively. Conclusion: A significant lack of knowledge about the specific treatment, late effects, and future health in both countries was detected. They did not achieve significant learning with the education received. Psychological sequelae were found that are important to prevent