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

Can campo rupestre vegetation be floristically delimited based on vascular plant genera? Plant Ecology 207

Abstract A number of floristic and vegetation studies apply the terms campo rupestre, campo de altitude (or Brazilian pa´ramo), and Tepui to neotropical azonal outcrop and montane vegetation. All of these are known to harbor considerable numbers of endemic plant species and to share several genera. In order to determine whether currently known combinations of vascular plant genera could help circumscribe and distinguish these vegetation types, we selected 25 floras which did not exclude herbs and compiled them into a single database. We then compared the Sørensen similarities of the genusassemblages using the numbers of native species in the resulting 1945 genera by multivariate analysis. We found that the circumscription of campo rupestre and other Neotropical outcrop vegetation types may not rely exclusively on a combination of genera

The eradication of feral goats and its impact on plant biodiversity - a milestone in the history of Trindade Island, Brazil

Abstract The recent signs of recovery of the native and endemic flora of Trindade Island, Brazil, are attributed to the eradication of vertebrates which were introduced on the 18th Century. Three centuries of devastation lead to the disappearance of endemic plant species and to a drastic reduction of vegetation cover and sea bird populations. In 2005 the Brazilian Navy concluded the eradication of feral goats, resulting in the early expansion of vegetation cover on previously barren areas. The only remaining invasive vertebrates are the house mice. This fact represents a milestone in the natural history of Trindade and shall encourage new conservation research on the Island

Zizyphus mauritiana Lam. (Rhamnaceae) and the chemical composition of its floral fecal odor

When in blossom, jujube (Zizyphus mauritiana Lam., Rhamnaceae) emanates a strong fecal odor. The substances responsible for this scent were analysed by headspace solid-phase microextraction and gas chromatography-mass spectrometry (SPME-GC-MS) associated to standard co-injection and retention indexes, which showed benzaldehyde as major constituent. Minor benzenoids, aliphatic carboxylic acids, aldehydes, hydrocarbons and oxygenated monoterpenes were also observed. Olfactometric evaluation of the SPME using GC-sniffing port indicated skatole (3-methyl-indole) as responsible for the fecal odor and vanillin for the sweety odor

Constituintes químicos voláteis das flores e folhas do pau-brasil (Caesalpinia echinata, Lam.)

The volatile constituents obtained from a static cryogenic headspace of Caesalpinia echinata Lam. (Leguminosae) showed E-beta-ocimene as the major compound (57.2%), beside other monoterpenes, C6 derivatives like n-hexanal and (E)-2-hexenal and nitrogen compounds such as indole and methyl anthranilate. From the essential oil of the leaves obtained by hydrodistillation in a Clevenger apparatus, (E)-3-hexen-1-ol was identified as the major constituent while phenolic compounds were the most representative class of secondary metabolites