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

The trophic ecology of barn owl in the agricultural ecosystems of Central Greece: its application in the distribution and abundance of its prey

Esta Tesis Doctoral tuvo cuatro objetivos principales. Estudiar la ecología trófica de la Lechuza común en los agro-ecosistemas de Grecia central, comparar los resultados con otras dietas Europeas y Griegas, y desde el espectro de la dieta buscar patrones de distribución, abundancia y estructura de las poblaciones de los micromamíferos en la región de Tesalia, y estudiar su uso espacial estacional en respecto al cambio estacional del hábitat agrícola. 31 sitios de nidificación naturales fueron localizados en la llanura de Tesalia. Un total de 124 muestras han sido realizadas y 10.065 egagrópilas fueron coleccionadas, reflejando 2 épocas reproductoras y 2 no reproductoras. Después el análisis de las egagrópilas un total de 29.061 presas fueron identificadas, en su mayoría micromamíferos. 28 variables ambientales fueron cuantificadas que fueron incluidas en el ratio de 2 km alrededor de cada sitio de muestra. El análisis de datos ecológicos multivariante ha sido aplicada utilizando el programa CANOCO y con el uso de Modelos Lineales Generalizables, y el Análisis de Gradientes Directa ha sido aplicado utilizando el Análisis de Redundancias. La Lechuza común en Tesalia ha capturado principalmente topillos, y especialmente durante la época reproductora, demostrando también una selección de hábitat fuerte hacia pequeñas parcelas de tierra que sostenían topillos. Alternativamente durante las épocas no reproductoras ha capturado ratones y ratas forrajeando a otros tipos de hábitat. La depredación sobre las ratas durante la época no reproductora ha sido una de las más altas en Europa Mediterránea. Nuevos datos de distribución se han presentado por todas las 15 especies de micromamíferos, que anteriormente se consideraban como ausentes de la llanura de Tesalia. Crocidura suaveolens y Microtus thomasi han sido correlacionadas con tipos del suelo y textura del suelo, y han sido fuertemente afectadas del cambio estacional del hábitat agrícola. Las especies del genero Mus y Apodemus siendo competidores débiles y más generalistas han diferenciado sus nichos, ocupando tipos de hábitat otros de aquellas especies especializadas y territoriales. Microtus guentheri ha sido la especie más abundante en el primer año del estudio pero su población sufrió un decrecimiento fuerte durante los tres años del estudio, mientras tanto los demás grupos de micromamíferos han aumentado.The PhD Thesis had four main objectives. Study Barn owl s trophic ecology in the agroecosystems of central Greece, compare it with Greek and European diets, and through that diet spectrum search for patterns of distribution, abundance and structure of small mammal populations in the region of Thessaly, and study their seasonal space use in relation to the change of agricultural habitat. A total of 31 Barn owl breeding sites were located in the lowlands of Thessaly. A total of 124 samplings were realized and 10.065 pellets were collected, reflecting concretely two breeding and two non-breeding periods. After pellet analysis a total of 29.061 prey items were indentified, mainly comprised of small mammals. 28 environmental variables were quantified, as they were included in a 2 km ratio around each sampling site. Multivariate analysis of ecological data was applied with the software CANOCO and the use of Generalized Linear Models, and Direct Gradient Analysis was applied using Redundancy Analysis. Barn owl in Thessaly preyed heavily on voles, especially during breeding seasons and it also presented a strong habitat selection towards small habitat patches that sustained voles. Alternatively during non breeding seasons it preyed on mice and rats foraging over different habitat types. Rat predation during non breeding season was among the highest in Mediterranean Europe. New distribution data were presented for a total of 15 small mammal species, previously considered absent from Thessaly plains. Crocidura suaveolens and Microtus thomasi were correlated with soil types and soil texture, and were strongly affected from the seasonal change of agricultural habitat. Mus and Apodemus species as weak competitors and generalists differentiated their niches by occupying habitat types others than those of specialized and territorial species. Microtus guentheri was the most abundant in the first year but its population crashed during the three year study, while populations of all other small mammal groups increased

Satellite and Proximal Sensing to Estimate the Yield and Quality of Table Grapes

Table grapes are a crop with high nutritional value that need to be monitored often to achieve high yield and quality. Non-destructive methods, such as satellite and proximal sensing, are widely used to estimate crop yield and quality characteristics, and spectral vegetation indices (SVIs) are commonly used to present site specific information. The aim of this study was the assessment of SVIs derived from satellite and proximal sensing at different growth stages of table grapes from veraison to harvest. The study took place in a commercial table grape vineyard (Vitis vinifera cv. Thompson Seedless) during three successive cultivation years (2015–2017). The Normalized Difference Vegetation Index (NDVI) and Green Normalized Difference Vegetation Index (GNDVI) were calculated by employing satellite imagery (Landsat 8) and proximal sensing (Crop Circle ACS 470) to assess the yield and quality characteristics of table grapes. The SVIs exhibited different degrees of correlations with different measurement dates and sensing methods. Satellite-based GNDVI at harvest presented higher correlations with crop quality characteristics (r = 0.522 for berry diameter, r = 0.537 for pH, r = 0.629 for berry deformation) compared with NDVI. Proximal-based GNDVI at the middle of veraison presented higher correlations compared with NDVI (r = −0.682 for berry diameter, r = −0.565 for berry deformation). Proximal sensing proved to be more accurate in terms of table grape yield and quality characteristics compared to satellite sensing

Unmet Needs in the Assessment of Right Ventricular Function for Severe Tricuspid Regurgitation

Tricuspid regurgitation (TR) is a highly prevalent valvular heart disease that has been long overlooked, but lately its independent association with adverse cardiovascular outcomes was recognized. The time point to intervene and repair the tricuspid valve is defined by the right ventricular (RV) dilation and dysfunction that comes up at a later stage. While guidelines favor tricuspid valve repair before severe RV dysfunction ensues, the definition of RV dysfunction in a universal manner remains vague. As a result, the candidates for transcatheter or surgical TR procedures are often referred late, when advanced RV dysfunction is established, and any derived procedural survival benefit is attenuated. Thus, it is of paramount importance to establish a universal means of RV function assessment in patients with TR. Conventional echocardiographic indices of RV function routinely applied have fundamental flaws that limit the precise characterization of RV performance. More recently, novel echocardiographic indices such as strain via speckle-tracking have emerged, demonstrating promising results in the identification of early RV damage. Additionally, evidence of the role of alternative imaging modalities such as cardiac computed tomography and cardiac magnetic resonance, for RV functional assessment in TR, has recently arisen. This review provides a systematic appraisal of traditional and novel multimodality indices of RV function in severe TR and aims to refine RV function assessment, designate future directions, and ultimately, to improve the outcome of patients suffering from severe TR

Antibacterial Effects of Essential Oils of Seven Medicinal-Aromatic Plants Against the Fish Pathogen Aeromonas veronii bv. sobria: To Blend or Not to Blend?

Despite progress achieved, there is limited available information about the antibacterial activity of constituents of essential oils (EOs) from different medicinal-aromatic plants (MAPs) against fish pathogens and the complex interactions of blended EOs thereof. The present study aimed to investigate possible synergistic antimicrobial effects of EOs from seven Greek MAPs with strong potential against Aeromonas veronii bv. sobria, a fish pathogen associated with aquaculture disease outbreaks. The main objective was to evaluate whether blending of these EOs can lead to increased antimicrobial activity against the specific microorganism. A total of 127 combinations of EOs were prepared and their effect on A. veronii bv. sobria growth was tested in vitro. We examined both the inhibitory and bactericidal activities of the individual EOs and compared them to those of the blended EOs. The vast majority of the investigated combinations exhibited significant synergistic and additive effects, while antagonistic effects were evident only in a few cases, such as the mixtures containing EOs from rosemary, lemon balm and pennyroyal. The combination of EOs from Greek oregano and wild carrot, as well as the combinations of those two with Spanish oregano or savoury were the most promising ones. Overall, Greek oregano, savoury and Spanish oregano EOs were the most effective ones when applied either in pure form or blended with other EOs

Association of clinical, laboratory and imaging biomarkers with the occurrence of acute myocardial infarction in patients without standard modifiable risk factors – rationale and design of the “Beyond-SMuRFs Study”

Abstract Background Acute myocardial infarction (AMI) remains the leading cause of mortality worldwide. The majority of patients who suffer an AMI have a history of at least one of the standard modifiable risk factors (SMuRFs): smoking, hypertension, dyslipidemia, and diabetes mellitus. However, emerging scientific evidence recognizes a clinically significant and increasing proportion of patients presenting with AMI without any SMuRF (SMuRF-less patients). To date, there are no adequate data to define specific risk factors or biomarkers associated with the development of AMIs in these patients. Methods The ‘‘Beyond-SMuRFs Study’’ is a prospective, non-interventional cohort trial designed to enroll patients with AMI and no previous coronary intervention history, who undergo coronary angiography in two academic hospitals in Thessaloniki, Greece. The rationale of the study is to investigate potential relations between SMuRF-less AMIs and the clinical, laboratory and imaging profile of patients, by comparing parameters between patients with and without SMuRFs. Complete demographic and comprehensive clinical data will be recorded, Venous blood samples will be collected before coronary angiography and the following parameters will be measured: total blood count, standard biochemistry parameters, coagulation tests, hormone levels, glycosylated hemoglobin, N- terminal pro-B-type natriuretic peptide and high-sensitivity troponin T levels- as well as serum levels of novel atherosclerosis indicators and pro-inflammatory biomarkers. Furthermore, all participants will undergo a complete and comprehensive transthoracic echocardiographic assessment according to a pre-specified protocol within 24 h from admission. Among others, 2D-speckle-tracking echocardiographic analysis of cardiac chambers and non-invasive calculation of myocardial work indices for the left ventricle will be performed. Moreover, all patients will be assessed for angiographic parameters and the complexity of coronary artery disease using the SYNTAX score. Multivariable linear and logistic regression models will be used to phenotypically characterize SMuRF-less patients and investigate independent clinical, laboratory, echocardiographic and angiographic biomarkers-predictors of SMuRF-less status in AMI.The first patient was enrolled in March 2022 and completion of enrollment is expected until December 2023. Discussion The ‘‘Beyond-SmuRFs’’ study is an ongoing prospective trial aiming to investigate potential clinical, laboratory and imaging biomarkers associated with the occurrence of AMIs in SMuRF-less patients. The configuration of these patients’ profiles could lead to the development of personalized risk-stratification models predicting the occurrence of cardiovascular events in SΜuRF-less individuals. Trial Registration ClinicalTrials.gov Identifier: NCT05535582 / September 10, 2022

Prevalence of Diabetes and Its Association with Atherosclerotic Cardiovascular Disease Risk in Patients with Familial Hypercholesterolemia: An Analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

Familial hypercholesterolemia (FH) and type 2 diabetes mellitus (T2DM) are both associated with a high risk of atherosclerotic cardiovascular disease (ASCVD). Little is known about the prevalence of T2DM and its association with ASCVD risk in FH patients. This was a cross-sectional analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH) including adults with FH (n = 1719, mean age 51.3 ± 14.6 years). Of FH patients, 7.2% had a diagnosis of T2DM. The prevalence of ASCVD, coronary artery disease (CAD), and stroke was higher among subjects with T2DM compared with those without (55.3% vs. 23.3%, 48.8% vs. 20.7%, 8.3% vs. 2.7%, respectively, p p = 0.004]. FH patients with T2DM were more likely to have undergone coronary revascularization than those without (14.2% vs. 4.5% for coronary artery bypass graft, and 23.9% vs. 11.5% for percutaneous coronary intervention, p < 0.001). T2DM is associated with an increased risk for prevalent ASCVD in subjects with FH. This may have implications for risk stratification and treatment intensity in these patients