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. Funding Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron

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

Searle Plant, Morpeth Reconnaissance Survey. February 1987 interim results

La biolog�a y ecolog�a de las especies Lutjanus colorado y Lutjanus argentiventris son poco conocidas en el estado de Sinaloa, M�xico a pesar de la importancia econ�mica que tiene, con capturas de 233.642 tm en el 2000. Est�magos de estas especies fueron recolectados mensualmente durante el a�o 2001, a partir de organismos capturados tanto por la flota comercial ribere�a como durante la realizaci�n de salidas de campo propias. Se analizaron 145 est�magos de L. argentiventris y 87 de L. colorado. Las presas presentes en los contenidos estomacales fueron identificadas, clasificadas, numeradas y pesadas. Para el an�lisis cuantitativo del r�gimen alimenticio de las especies se calcularon los porcentajes en n�mero y peso de las presas as� como el �ndice de importancia relativa (IIR) total, mensual, por sexos y por tallas. La dieta de los peces estuvo constituida por dos grupos tr�ficos principales: peces y crust�ceos. La presa m�s importante en la dieta de L. argentiventris fue Penaeus sp.(Decapoda Natantia) y en la de L. colorado, fue Goniopsis pulchra (Decapoda Reptantia). La cantidad de presas consumidas se increment� en los meses de verano, observ�ndose durante este per�odo una mayor variedad del espectro alimenticio. Se utiliz� el porcentaje en n�mero y en peso para determinar la diversidad del espectro alimentario. Se encontr� que estos valores fueron bajos (<0,5), determin�ndose que la dieta de estas especies de pargos es de baja diversidad pero abundant

Feeding habits of Lutjanus argentiventris and Lutjanus colorado (Pisces: Lutjanidae) in the north of Sinaloa, Mexico [Hábitos alimenticios del pargo amarillo Lutjanus argentiventris y del pargo rojo Lutjanus colorado (Pisces: Lutjanidae) en el norte de Sinaloa, México]

The biology and ecology of the species Lutjanus colorado and Lujanus argentiventris is almost unknown in the state of Sinaloa Mexico, in spite of the economic importance that catch of these species had in the year 2000 with 233,642 metric ton. The present work is of scientific importance by the biological contribution for the managing of these fisheries. Stomachs of these species were monthly collected from artisanal and personal catches during 2001. A total of 145 stomachs of L. argentiventris and 87 of L. colorado were analyzed. The stomach content was identified, separated in groups, quantified, weighted and the frequency of appearance obtained. Additionally, the total and monthly index of relative importance (IRI) was calculated, by sex and size. The diet of these fishes was constituted by two main trophic groups: fishes and crustaceans. The most important prey in the diet of L. argentiventris was Penaeus sp. (Decapoda Natantia) and in L. colorado was Goniopsis pulchra (Decapoda Reptantia). The amount of preys was greater in the summer months, being observed a greater variety of the nutritional spectrum. Numerical and gravimetric percentages were used to determine trophic spectrum diversity. These values were low (<0.5), concluding that the diet of these species is of low diversity but abundant

Reducción de desperdicio en proceso de fabricación de faro automotriz

The automotive parts assembly company is one of the important industries in the global market. The applications of engineering and statistical tools are essential to constantly improve processes. This project is conducted in an automotive company dedicated to the manufacture of headlights. With the application of the six-sigma philosophy in its DMAIC phases and quality tools, the amount of waste during the automotive headlight lens manufacturing process was reduced, which presented a considerable increase in the last 4 years, affecting the costs and effectiveness in the process, generating a risk of non-compliance in the delivery time in the client’s requirements. Using the design of experiments and the analysis of capacity in the Poisson distribution, the contamination in the glasses were measured before and after the improvement, providing sufficient evidence to support the reduction of waste by 44.65%

Feeding habits of Lutjanus argentiventris and Lutjanus colorado (Pisces: Lutjanidae) in the north of Sinaloa, Mexico [Hábitos alimenticios del pargo amarillo Lutjanus argentiventris y del pargo rojo Lutjanus colorado (Pisces: Lutjanidae) en el norte de Sinaloa, México]

The biology and ecology of the species Lutjanus colorado and Lujanus argentiventris is almost unknown in the state of Sinaloa Mexico, in spite of the economic importance that catch of these species had in the year 2000 with 233,642 metric ton. The present work is of scientific importance by the biological contribution for the managing of these fisheries. Stomachs of these species were monthly collected from artisanal and personal catches during 2001. A total of 145 stomachs of L. argentiventris and 87 of L. colorado were analyzed. The stomach content was identified, separated in groups, quantified, weighted and the frequency of appearance obtained. Additionally, the total and monthly index of relative importance (IRI) was calculated, by sex and size. The diet of these fishes was constituted by two main trophic groups: fishes and crustaceans. The most important prey in the diet of L. argentiventris was Penaeus sp. (Decapoda Natantia) and in L. colorado was Goniopsis pulchra (Decapoda Reptantia). The amount of preys was greater in the summer months, being observed a greater variety of the nutritional spectrum. Numerical and gravimetric percentages were used to determine trophic spectrum diversity. These values were low (<0.5), concluding that the diet of these species is of low diversity but abundant

Effect of Supercritical Fluid Extraction Process on Chemical Composition of <i>Polianthes tuberosa</i> Flower Extracts

Supercritical fluid extracts from flowers of Polianthes tuberosa var. double were ob tained using carbon dioxide as a solvent. Yield extract obtained was 2.5%. The effects of the pressure process (18 MPa, 28 MPa, and 38 MPa) and temperature process (313 K, 323 K, and 333 K) on the volatile composition of tuberose flowers extracts were evaluated, and a significant variation in chemical composition was found. Characteristic compounds of tuberose as methyl isoeugenol, benzyl benzoate, methyl anthranilate, pentacosene, and heptacosene were obtained mainly at 18 MPa and 333 K process conditions, and could be used in the perfume or fragrance industry. Components such as geraniol, farnesol, and methyl eugenol were also obtained, these extracts could be used in the development of cosmeceutical products. This work allowed to identification of the chemical composition profile and evaluation of the changes in tuberose extracts due to the extraction process

DLP fabrication of TiO2 nanoparticle thin films

3D printing technology has become a valuable and successful tool for many areas, including materials sciences.Nanoparticle thin film fabrication commonly requires expensive, highly specialized equipment not available in basic sciences laboratories. A simple, inexpensive, and straightforward methodology for the deposition of thin films composed of semiconductor TiO2 nanoparticles using a DLP (Digital Light Processing) 3D printer is pre-sented in this work. X-ray diffraction (XRD), Raman, Ultraviolet-visible (UV-Vis), and Photoluminescence (PL) spectroscopies were used to study the film's structural and optical properties. By analyzing Scanning Electron Microscopy (SEM) micrographs, particle size distribution and film thickness were studied. Single-layer TiO2 (an-atase) thin films with thickness around 114.3 ± 39.5 nm were successfully deposited through DLP 3D printing. The deposited films can be used in sensors, energy harvesting, catalysis, hydrogen production, and other UV light applications