Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia. Methods: Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1, APOA1, LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3. All rare variants (MAF<5%) found in these genes were confirmed by Sanger sequencing. Results and discussion: This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G>A) and the other is a possible compound heterozygous for APOB variants c.2604+1G>A and c.4651C>T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A>T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation.

Perceção da Saúde: Validação de uma Escala para a População Portuguesa / Percepción de la Salud: Validación de una Escala para la Población Portuguesa / Health Perception: Validation of a Scale for the Portuguese Population

Resumo A validade do construto perceção da saúde tem aumentado ao longo do tempo; as pessoas avaliam melhor a sua saúde devido a um acréscimo da escolaridade. Diferentes instrumentos têm sido desenvolvidos para avaliar esta dimensão da saúde. Este estudo tem como objetivo a validação para a população adulta portuguesa do Health Perception Questionnaire, dada a inexistência no contexto português de instrumento validado que avalie a perceção da saúde. É um instrumento de autoresposta que avalia a perceção da saúde em três momentos - passado, presente e futuro, a resistência e atitudes em relação à doença. Participaram 1,139 sujeitos da população geral, com idades entre os 18 e os 79 anos e maioritariamente mulheres. Foram realizadas análises fatoriais exploratória e confirmatória, tendo sido encontrado um modelo de 2.ª ordem, onde a perceção da saúde se define em torno de dois fatores - saúde atual (sete itens) e saúde anterior (dois itens). A vivência de doença grave ou significativa, assim como o bem-estar e a saúde, assumem-se como elementos chave na construção individual da perceção de saúde anterior e atual respectivamente.

Resumen La validez del constructo percepción de la salud ha aumentado a lo largo del tiempo; las personas evalúan mejor su salud debido al aumento en el nivel de escolaridad. Diferentes instrumentos se han desarrollado para evaluar esta dimensión de la salud. Este estudio tiene como objetivo la validación para la población adulta portuguesa del Health Perception Questionnaire, en ausencia de instrumento validado para evaluar la percepción de la salud en el contexto portuguése Es un instrumento de autorespuesta que evalúa la percepción de la salud en tres momentos - pasado, presente y futuro, la resistencia y actitudes en relación a la enfermedad. Participaron1,139 sujetos de la población general, con edades entre los 18 y los 79 años y mayoritariamente mujeres. Se realizaron análisis factoriales exploratorios y confirmatorios, habiendo sido encontrado un modelo de 2ª planta, donde la percepción de la salud se define en torno a dos factores - salud actual (siete ítems) y salud anterior (dos ítems). La vivencia de enfermedad grave o significativa, así como el bienestar y la salud, se asumen como elementos clave en la construcción individual de la percepción de salud anterior y actual respectivamente.

Abstract The validity of health perception construct has increased over time; people assess better their health status due to an increased level of education. Different instruments have been developed to assess this dimension of health. This study aims to validate for the Portuguese adult population of the Health Perception Questionnaire due to the inexistence in the Portuguese context of a validated instrument that assess health perception. It is a self -report instrument that evaluates health perception in three moments - past, present and future, resistance and attitudes towards the disease.1,139 subjects from the general population, aged between 18 and 79 years and mostly women, participated. Exploratory and confirmatory factorial analyzes were carried out. A second order model was found, where health perception is defined around two factors - current health (seven items) and previous health (two items). The experience of serious or significant illness, as well as well-being and health, are assumed as key elements in the individual construction of the previous and current health perception respectively.

Adiponectin, insulin and leptin levels in the cord plasma of the neonates from adolescent and adult mothers and their relationship with anthropometric parameters and fetal sex-gender.

OBJECTIVE: This cross-sectional study aimed to evaluate the association between leptin, insulin and adiponectin levels and anthropometric measurements of term newborns of adolescent and adult mothers. STUDY DESIGN: Umbilical cord plasma samples were obtained from 80 healthy term neonates (40 from teenagers and 40 from adult mothers) and adiponectin, insulin and leptin concentrations were measured. RESULTS: Cord plasma adiponectin levels were higher in the boys from adult mothers than in the boys of the adolescent (p < 0.05), while plasma leptin levels in the boys of the adults were significantly lower (p < 0.05) than those of girls from both groups. Univariate correlation analysis showed that leptin umbilical cord plasma levels were positively associated with birth weight in neonates from adolescents and adults. Multiple linear regression analysis revealed that leptin levels showed significant positive predictor for birth weight specifically in the adult mother. CONCLUSION: Gestational age, but not adipokines, showed to be a significant positive predictor factor of birth weight in adolescent pregnancy.

Distribution of calcium, iron, copper, and zinc in two portions of placenta of teenager and adult women.

The placenta is fundamental for fetal development. The aim of this study was to determine Ca, Fe, Cu, and Zn content in the fetal and maternal portions of the placentas of teenage and adult women. Measurement of the minerals was conducted using Synchrotron radiation total reflection X-ray fluorescence. Forty samples from the fetal portion of teenagers and adults and 40 samples from the maternal portion of teenagers and adults were analyzed. There were significant differences in the Ca and Cu concentrations of the placenta's maternal portion when compared to the fetal portion, for both teenagers and adults. There were differences in Fe and Zn concentrations only when comparing the maternal portion of placenta with the fetal portion of the adults. These results suggest important differences in mineral content based on the placental portion. No significant difference was observed between the minerals studied of the maternal portion of teenagers and adults; however, in the fetal portion, mineral concentrations were greater in adults than in teenagers. Therefore, the mineral concentration of the fetal portion of the placenta is influenced by the mother's age. If there is mineral's competition between the mother and fetus during pregnancy in adolescence due to the importance of these minerals in growth and development, then the mechanism and reason for it should be elucidated in future research. In addition, we believe that further research should be carried out on transporters of these minerals in the same portions of the placentas analyzed by our group, in teenagers and adults.

Maternal-fetal distribution of calcium, iron, copper, and zinc in pregnant teenagers and adults.

Adolescence is marked by intensive growth and development. When pregnancy occurs during this period of the mother's growth, there is an increase in her nutritional needs. The aim of this study was to determine the levels of calcium, iron, copper, and zinc in maternal plasma, the placenta, and in the cord plasma of pregnant teenagers and adults. A total of 80 sets of maternal plasma, placentas, and cord plasma (40 from teenagers and 40 from adults) were analyzed using synchrotron radiation total reflection X-ray fluorescence. The levels of calcium, copper, and zinc in the maternal and cord plasma from teenagers were not significantly different than those from adults. Iron levels in the teenagers maternal and cord plasma were higher than in the adults. All of the minerals analyzed were present at higher levels in the placentas from adults than those from teenagers. However, the low quantities of placental calcium, iron, copper, and zinc in the teenagers do not compromise the levels of these minerals in the cord plasma. Future research regarding the placental transport of these minerals is recommended to investigate the efficiency of mechanisms of transfer of these minerals in pregnant teenagers.

Elementos traço e complicações obstétricas na gestação na adolescência / Trace elements and obstetric complications in teenage pregnancy

Minerais estão relacionados com todas as etapas de crescimento e diferenciação celular. Quando a gestação coincide com a adolescência a demanda nutricional necessária para ótimo desenvolvimento e crescimento materno e fetal aumenta consideravelmente. Apesar de existirem muitos estudos sobre as funções destes micronutrientes, pouco se sabe sobre suas atuações no resultado da gestação. Este trabalho objetivou revisar na literatura o papel do cobre, ferro, e zinco no resultado da gestação, em especial de gestantes adolescentes, focando intercorrências como baixo peso ao nascer, partos pré-termo, pré-eclampsia, abortos, dentre outras complicações associadas à gestação na adolescência. Os estudos já realizados são limitados, há a necessidade de promovê-los em países em desenvolvimento, onde a deficiência de micronutrientes e intercorrências possuem altos índices. Os benefícios da suplementação de minerais na redução da prevalência de déficits e na melhora dos estoques maternos têm sido demonstrados, mas dados sobre os benefícios potenciais para o feto são pouco conclusivos.

Minerals are associated with all stages of growth and cellular differentiation. When gestation coincides with adolescence, the nutritional requirements for optimal development of the mother and fetus increase significantly. Although there are many studies on the function of micronutrients, little is known about their influence on pregnancy outcome. This work aimed to review studies that investigated the influence of copper, iron and zinc on pregnancy outcome, especially in teenagers, focusing on intercurrences such as low birth weight, preterm births, pre-eclampsia, miscarriages and other complications associated with teenage pregnancy. There are only a few studies on this topic and a need to promote them in developing countries, where high rates of micronutrient deficiencies and intercurrences are common. The efficacy of mineral supplementation in reducing deficiency rates and improving maternal reserves has been demonstrated but data on potential benefits for the fetus are not very conclusive.