Vitamin D and autoimmunity in the Portuguese population

A vitamina D é única entre as vitaminas pois trata-se de uma verdadeira hormona, à qual tem sido atribuída grande importância na homeostasia do sistema imune, para lá do seu reconhecido papel no metabolismo fosfocálcico. A ampla expressão do seu recetor (VDR), e os numerosos locais de ligação deste em todo o genoma, dão suporte a essa hipótese. Alguns polimorfismos do gene do VDR têm sido associados com doenças autoimunes. Na população portuguesa, demonstramos que o polimorfismo Fok I do VDR está associado à esclerose múltipla (EM), e à gravidade da doença no lúpus eritematoso sistémico (LES). Os baixos níveis séricos de vitamina D também estão associados com um risco aumentado de desenvolver doenças autoimunes como o LES, a EM e a artrite reumatoide. A insuficiência de vitamina D é muito comum em Portugal, podendo afetar entre os 60% e os 95% da população em função da estação do ano e do índice de massa corporal. O desenvolvimento de estratégias para o rastreio da deficiência de vitamina D é crucial, particularmente em grupos de risco. Não existem ainda, no entanto, evidências suficientes que possibilitem emitir recomendações claras e bem fundamentadas para a suplementação de vitamina D como medida preventiva de doenças crónicas, tendo em conta os riscos e benefícios inerentes.Vitamin D is unique among vitamins, as it represents a real hormone to which great impor tance in the homeostasis of the immune system has been ascribed, beyond its known role in phosphocalcic metabolism. The wide expression of its receptor (VDR), and the numerous binding sites for this receptor along the genome suppor t this hypothesis. Some well known VDR polymorphisms have been associated with autoimmune disease susceptibility. In the Por tuguese population, we have shown that the VDR Fok I polymorphism is associated with multiple sclerosis (MS), and with disease severity in systemic lupus er y thematosus (SLE). Low vitamin D serum levels are also associated with an increased risk of developing autoimmune diseases such as SLE, MS and rheumatoid ar thritis. Vitamin D insuf ficiency is ex tremely common in Por tugal, and can af fect 60% to 85% of the population, depending on the season of the year and body-mass index. The development of screening strategies for vitamin D deficiency is needed, par ticularly for high-risk individuals. However, sufficient evidences are not yet available to make it possible to provide clear and well founded recommendations for the use of vitamin D supplementation in the prevention of chronic disease, taking into account the inherent risks and benefits.info:eu-repo/semantics/publishedVersio

Corylus avellana L. Husks an Underutilized Waste but a Valuable Source of Polyphenols

[EN] Bioactive potential of hazelnut husks was determined as a function of their cultivar source and extraction solvent. Hazelnut husks from four hazelnut cultivars (Butler, Grada de Viseu, Lansing and Morell) were picked in a hazelnut orchard at harvest and extracted with five solvents with different polarity: water, methanol, acetone, ethyl acetate and hexane. Phenolics were identified by HPLC-DAD and antioxidant activity was determined by three complementary methods: DPPH, FRAP and inhibition of lipid peroxidation. A total of 11 phenolics were identified in studied cultivars and grouped in five main classes namely, ellagitannin (ellagic acid), benzoic acids (gallic acid, protocatechuic acid and vanillic acid), flavonols (kaempferol-3,7-O-diglucoside, kaempferol-3-O-[6-acetylglucoside]-7-O-glucoside, kaempferol-3-O-[6acetylglucoside]-7-O-rhamnoside and quercetin-3-O-rutinoside), flavone (luteolin-7-O-rutinoside) and flavan-3-ol (epicatechin). Cultivar and extraction solvent influenced significantly (p < 0.001) the extraction yield. 'Grada de Viseu' husks presented the highest content of individual phenolics identified, particularly in methanol extracts whilst 'Lansing' showed the lowest levels. Similar pattern was found for antioxidant activities. Methanolic husk extracts exhibited the greatest antioxidant potentials followed by water and acetone. The valorization of hazelnuts by-products gives an important contribution for the isolation and purification of bioactive molecules that can be used for both medicinal and industrial purposes.The author Sandra Cabo acknowledges the financial support by the Portuguese Foundation for Science and Technology (FCT) (PB/BD/113615/2015) under the Doctoral Programme "Agricultural Production Chains-from fork to farm" (PD/00122/2012). The authors also acknowledge the financial support provided by National Funds from FCT, under the project UID/AGR/04033/2019. The authors acknowledge the financial support of INTERACT project "Integrative Research in Environment, Agro-Chains and Technology", no. NORTE-01-0145-FEDER-000017, in its line of research entitled ISAC, co-financed by the European Regional Development Fund (ERDF) through NORTE 2020 (North Regional Operational Program 2014/2020) and Project IBERPHENOL, Project Number 0377_IBERPHENOL_6_E, co-financed by European Regional Development Fund (ERDF) through POCTEP 2014-2020.Cabo, S.; Aires, A.; Carvalho, R.; Pascual-Seva, N.; Silva, AP.; Gonçalves, B. (2021). Corylus avellana L. Husks an Underutilized Waste but a Valuable Source of Polyphenols. Waste and Biomass Valorization. 12(7):3629-3644. https://doi.org/10.1007/s12649-020-01246-43629364412

Metabolite composition of chestnut (Castanea sativa Mill.) upon cooking: Proximate analysis, fibre, organic acids and phenolics

The aim of this research was to study the processing effects (roasting and boiling) on primary and secondary metabolite composition of fruits from the following chestnut (Castanea sativa Mill.) cultivars (cvs.) of three Protected Designation of Origin (PDO) areas in the Trás-os-Montes e Alto Douro region (Portugal): PDO Terra Fria (cvs. Aveleira, Boaventura, Côta, Lamela and Trigueira), PDO Padrela (cvs. Judia, Lada, Longal and Negra) and PDO Soutos da Lapa (cvs. Longal and Martaínha). The cooking processes significantly (p < 0.0001) affected primary and secondary metabolite composition of the chestnuts. Roasted chestnuts had higher protein contents, insoluble and total dietary fibre and lower fat contents whilst boiled chestnuts had lower protein, but higher fat contents. Cooking increased citric acid contents, especially in roasted chestnuts. On the other hand, raw chestnuts had higher malic acid contents than cooked chestnuts. Moreover, roasted chestnuts had significantly higher gallic acid and total phenolics contents, and boiled chestnuts had higher gallic and ellagic acids contents, when compared to raw chestnuts. The present data confirms that cooked chestnuts are a good source of organic acids and phenolics and have low fat contents, properties that are associated with positive health benefits

Depressive symptomatology at full-term pregnancy in low risk women

Objectives The aims of the study were to estimate the prevalence of depressive symptomatology in full-term pregnancy (low risk), evaluate their predictors and maternal-fetal outcomes. To this end, the applicability of Postpartum Depression Screening Scale (PDSS 24) will be evaluated, at full-term pregnancy. Methods PDSS 24 and a sociodemographic, psychosocial, pathological and obstetrical background questionnaire were self-administered to 403 pregnant women (37-40 weeks gestation), with a mean age of 30.5 years (SD = 4.67). Data from maternal, fetal and neonatal outcomes were collected from the patient clinical process. Results PDSS 24 revealed adequate psychometric properties to screening depressive symptomatology in full-term pregnancy. The prevalence of depressive symptomatology was 41.7%. Pregnant women with lower study levels, who weren’t married, whose pregnancy was unplanned and with a previous history of significant life events present twice the risk to present depressive symptomatology. Pregnant women who hadn’t received the desired social support in pregnancy and with a history of depression present about a 3-fold increased risk to present depressive symptomatology. For maternal-fetal outcomes (pre-eclampsia, fetal growth restriction, Apgar score at 1st/5th minute, type of delivery, weight percentile, oligohydramnios and need for neonatal intensive care), the differences were not significant. Conclusion Screening for prenatal depression should be conducted during pregnancy. However, in full-term pregnancy women, the use of PDSS 24 as a screening tool for depressive symptomatology should be done with caution. The high prevalence of sleep-related symptoms, in full-term pregnancy, may lead to overdiagnosis, using PDSS 24.Objetivos Calcular a prevalência de sintomatologia depressiva pré-natal em grávidas de baixo risco, no termo da gestação, avaliar seus preditores e desfechos materno-fetais. Para tal, avaliar-se-á a aplicabilidade da Escala de Rastreio de Depressão Pós-Parto (PDSS 24) nessa fase da gravidez. Métodos A PDSS 24 e um questionário sociodemográfico, psicossocial e médico (antecedentes obstétricos e patológicos) foram autoaplicados a 403 grávidas (37-40 semanas de gestação), com idade média de 30,5 anos (DP = 4,67). Por meio do processo clínico, foram recolhidos dados de resultados materno-fetais. Resultados A PDSS 24 possui propriedades psicométricas adequadas para a deteção de sintomatologia depressiva pré-natal. A prevalência de sintomatologia depressiva pré-natal foi de 41,7%. Grávidas com níveis de escolaridade inferiores, não casadas, cuja gravidez não foi planejada e com antecedentes de acontecimentos de vida significativos apresentam risco duas vezes superior de sintomatologia depressiva no período pré-natal. Grávidas cujo apoio social percebido ao longo da gravidez não correspondeu ao desejado e com história prévia de depressão apresentam cerca de três vezes maior risco sintomatologia depressiva no período pré-natal. Para desfechos materno-fetais (pré-eclâmpsia, restrição de crescimento fetal, Apgar 1º/5º minuto, tipo de parto, percentil de peso, oligoâminos e necessidade de cuidados intensivos), as diferenças foram não significativas. Conclusão O rastreio da depressão pré-natal deve ser realizado na gravidez. Porém, no termo da gestação o uso da PDSS 24 como ferramenta de deteção de sintomatologia depressiva deve ser feito com cautela. A elevada prevalência de sintomas relacionados com o sono nessa fase da gestação pode conduzir ao sobre diagnóstico, usando a PDSS 24.(undefined

Effects of foliar and soil boron fertilization on yield, leaf physiological traits and fruit attributes in rainfed almond orchards

Boron (B) fertilizers are recognized as essential for ensuring yield and fruit quality. However, the importance of soil and foliar B fertilization in almond orchards under rainfed conditions is presently unclear. To address this literature gap, in the present study, the impact of soil and foliar application of B on leaf gas exchange, leaf photosynthetic pigments, yield, and fruit quality in almonds was investigated across three consecutive growing seasons. Boron fertilizer was applied to the soil at four rates (0, 1, 2, and 3 kg ha−1) in the presence or absence of foliar application (0.36 g L−1) of the same micronutrient. Borax pentahydrate was used as the B source. When compared to foliar B fertilization, the soil application of B positively affected the gas exchange parameters, mainly the net CO2 assimilation rate, stomatal conductance, and transpiration rate (percentage of gain between 15% and 80%), but did not influence the chlorophyll content. The almond yield and fruit characteristics were also enhanced (about 25–72%) in response to lower soil B fertilization rates. In the 3 kg ha−1 dose, B had an adverse effect on the yield and resulted in lighter fruits. On the other hand, foliar B fertilization did not benefit any of the evaluated parameters. Overall, these results suggest that, under the studied conditions, almond orchards do not respond to higher B rates in soil or foliar B fertilization.This research work was funded by the project “Estratégias integradas para o aumento da produtividade da amendoeira em Trás-os-Montes”, no. 54611, funded by the EAFRD (European Agricultural Fund for Rural Development), and by the Portuguese State through the “Medida 4.1. Cooperação para a Inovação do programa PRODER-Programa de Desenvolvimento Rural”. The authors also acknowledge to the Foundation for Science and Technology (FCT, Portugal) and FEDER under Programme PT2020 for financial support to CIMO (UIDB/00690/2020) and CITAB (UIDB/04033/2020).info:eu-repo/semantics/publishedVersio

Combined soil and foliar nitrogen fertilization effects on rainfed almond tree performance

Cultivation of almond in the Mediterranean region is traditionally done under rainfed conditions and poorly established cropping practices resulting in low yields. Despite the importance of nitrogen (N) fertilization to increase yield in cultivated species, this practice is usually neglected in rainfed managed almond orchards. Selection of the most appropriate rate and method of nitrogen (N) application are utmost factors to maximize almond yield in the considered conditions. Therefore, the aim of this study was to understand how soil and foliar N fertilization affect physiological and biochemical performance, almond yield, and fruit quality of almond trees grown under rainfed conditions. A 3-year experiment comprised four soil-applied N rates (0, 25, 50, and 100 kg ha−1) with and without 0.5% foliar N application of urea during the growing season, which was arranged in a randomized complete block design with three replications. Nitrogen soil fertilization did not influence the leaf gas exchange parameters and the content of photosynthetic pigments but significantly improved almond yield. There were no particular advantages in foliar fertilization. Soil application of small doses of fertilizer (e.g., 25 kg N ha−1) per year was optimal for maintaining appropriate physiological behavior of almond trees under the conditions in which the experiment was carried out, without compromise almond yield and fruit quality. Thus, the annual application at 25 kg N ha−1 enables substantial reduction of almond production costs being a positive contribution to environment-friendly farming practices.The authors acknowledge the financial support of the European Agricultural and Rural development fund (FEADER) under the Project “Estratégias Integradas para o aumento da produtividade da amendoeira em Trás-os-Montes n° 54611,” and by Portuguese State through the “Medida 4.1. Cooperação para a Inovação do programa PRODER - Programa de Desenvolvimento Rural.” Maria Morais, Alfredo Aires, Berta Gonçalves, and Ana Silva acknowledge the support of the National Funds by FCT—Portuguese Foundation for Science and Technology, under the project UID/AGR/04033/2020. David Barreales, Manuel Rodrigues, and António Ribeiro are grateful to the Foundation for Science and Technology (FCT, Portugal) for financial support by national funds FCT/MCTES to CIMO (UID/AGR/00690/2018). The authors are also grateful to Ana Monteiro, Cristiana Teixeira, Iva Prgomet, Ivo Oliveira, Linton Dinis, Sara Bernardo, Sílvia Afonso, and Silvina Morais for their support in the field and in the laboratory.info:eu-repo/semantics/publishedVersio

Physiological and biochemical performance of almond trees under deficit irrigation

The almond tree is generally recognized as drought-tolerant, though it depends on water resources to achieve high yields. During the summer months of two consecutive years, several physiological and biochemical parameters were observed, to understand the almond tree’s seasonal sensitivity and behavior under different irrigation strategies based on crop evapotranspiration (ETc): T100 optimal water requirement regime (applying 100% ETc); T70 and T35 sustained deficit irrigation regimes (applying 70% and 35% ETc); T100-35 regulated deficit irrigation regime (reducing the application to 35% ETc during fruit filling stage); and T0 (rainfed). The total leaf chlorophyll and carotenoid reduction in T0 and T35 treatments was significant compared to T100-35. Leaf soluble proteins and total soluble sugar contents were significantly higher in non-irrigated trees compared to other treatments, while the starch content showed the opposite trend. Rainfed trees were under obvious water stress, displaying the lowest values for relative water content (RWC), stomatal conductance (gs), photosynthetic rate (A), and transpiration rate (E), and the highest for intrinsic water use efficiency (A/gs). Plant hormones (ABA and IAA) generally accumulated more in non-irrigated trees. The almond tree has been confirmed as a drought-tolerant species, and when water is scarce, reducing the water application to 35% ETc during fruit filling stage, results in no yield losses, and the plant status remains unstressed. However, to get the maximum crop potential, in years and areas where water is not restricted, full irrigation requirements have been shown to boost almond tree performance.IP acknowledges the financial support provided by the FCTPortuguese Foundation for Science and Technology (SFRH/BD/52539/ 2014), under the Doctoral Programme “Agricultural Production Chains – from fork to farm” (PD/00122/2012). This work was also supported by National Funds by FCT - Portuguese Foundation for Science and Technology, under the project UID/AGR/04033/2019 and by the project PRODER “Estratégias Integradas para o aumento da produtividade da amendoeira em Trás-os-Montes, nº 54611. 2014 a 2018. The authors wish to acknowledge the help and support provided during field and laboratory work by Ana Monteiro, Cristiana Teixeira, Helena Ferreira, Ivo Oliveira, Linton Dinis, Sara Bernardo, Silvia Afonso, and Silvina Morais, and thank João Santos and Chenyao Yang for help with climate data.info:eu-repo/semantics/publishedVersio

A rare de novo unbalanced complex rearrangement involving chromosomes 12, 18 and 20 in a child with dysmorphic features

Complex chromosomal rearrangements (CCRs) are rare structural abnormalities that involve three or more breakpoints located on two or more chromosomes and are often associated with developmental delay, mental retardation and congenital anomalies. Here, we report the case of a rare de novo CCR in a girl who was 9 months old when first reported to us. At 15 months old, her clinical features included marked hypotonia, severe psychomotor delay, progressive postnatal microcephaly, strabismus, depressed nasal root, hands and feet malformations, heart defects, recurrent respiratory infections and bilateral hearing deficit still in study. Conventional cytogenetic analysis revealed an unbalanced complex rearrangement, involving chromosomes 12, 18 and 20, and an apparent loss of material of chromosome 18 resulting from an interstitial deletion. Further molecular cytogenetic studies were performed: whole chromosome painting probes for the involved chromosomes and chromosomal comparative genomic hybridization. These studies revealed that apparently no other chromosomes were involved and confirmed a del(18)(q21.1q22) of approximately 17 Mb on the derivative chromosome 18. The latter chromosome also had material from der(12) to der(20) in its constitution. As most CCRs involving chromosome 18q show rearrangements in the q21, some authors argue that this region might be a breakpoint “hotspot”. On the other hand, cases of single deletions on 18q are predominantly terminal. Interstitial deletions are much rarer, and to our knowledge, this is the first report of a CCR with a del(18)(q21.1q22). The phenotype of patients with deletions within this region, reported so far, seems very similar to the one of our patient, and this may contribute to a better understanding of the genotype–phenotype correlation in this type of structural abnormalities

Anacardium occidentale Bark as an Antidiabetic Agent

Anacardium occidentale L. is used throughout the world to treat type 2 diabetes. In Portugal, a traditional herbal preparation made with stem bark of this species (AoBTHP) has been used for more than 30 years to treat this pathology. The AoBTHP was standardized on total phenolic content, and its hypoglycemic activity was assessed using db/db mice (n = 26) for 92 days. Three doses (40.2, 71.5, and 127.0 mg/kg/day, per os) were tested, and glibenclamide (5 mg/kg/day) was used as positive control. During the study, glycemia was measured under non-fasting or fasting states. In sequence, thin-layer chromatography bioautographic assays were used for the detection of possible alpha- and beta-glucosidase inhibitors. A significant hypoglycemic effect in fasting glycemia in days 31 and 57 was observed with the three tested doses. The 71.5 mg/kg and 127.0 mg/kg AoBTHPs significantly reduced non-fasting glycemia on day 24. The highest dose showed the most significant hypoglycemic effect. Gallic acid was identified as the major alpha- and beta-glucosidase inhibitor. The 127 mg/kg/day AoBTHP dose showed a greater glucose-lowering effect than glibenclamide. For the first time, a standardized AoBTHP was tested using an in vivo diabetes model, and its usage was preclinically validated for type 2 diabetes treatment. The hypoglycemic activity of an AoBTHP can be related to the presence of alpha- and beta-glucosidase inhibitors, such as gallic acid, but other mechanisms can also be involved.info:eu-repo/semantics/publishedVersio

Monozygotic twins concordant for common variable immunodeficiency : strikingly similar clinical and immune profile associated with a polygenic burden

Copyright © 2019 Silva, Fonseca, Pereira, Silva, Barbosa, Serra-Caetano, Blanco, Rosmaninho, Pérez-Andrés, Sousa, Raposo, Gama-Carvalho, Victorino, Hammarstrom and Sousa. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Monozygotic twins provide a unique opportunity to better understand complex genetic diseases and the relative contribution of heritable factors in shaping the immune system throughout life. Common Variable Immunodeficiency Disorders (CVID) are primary antibody defects displaying wide phenotypic and genetic heterogeneity, with monogenic transmission accounting for only a minority of the cases. Here, we report a pair of monozygotic twins concordant for CVID without a family history of primary immunodeficiency. They featured a remarkably similar profile of clinical manifestations and immunological alterations at diagnosis (established at age 37) and along the subsequent 15 years of follow-up. Interestingly, whole-exome sequencing failed to identify a monogenic cause for CVID, but unraveled a combination of heterozygous variants, with a predicted deleterious impact. These variants were found in genes involved in relevant immunological pathways, such as JUN, PTPRC, TLR1, ICAM1, and JAK3. The potential for combinatorial effects translating into the observed disease phenotype is inferred from their roles in immune pathways, namely in T and B cell activation. The combination of these genetic variants is also likely to impose a significant constraint on environmental influences, resulting in a similar immunological phenotype in both twins, despite exposure to different living conditions. Overall, these cases stress the importance of integrating NGS data with clinical and immunological phenotypes at the single-cell level, as provided by multi-dimensional flow-cytometry, in order to understand the complex genetic landscape underlying the vast majority of patients with CVID, as well as those with other immunodeficiencies.This work received funding from PAC - PRECISE - LISBOA-01-0145-FEDER-016394, co-funded by FEDER through POR Lisboa 2020 - Programa Operacional Regional de Lisboa PORTUGAL 2020 and Fundação para a Ciência e a Tecnologia; and UID/BIM/50005/2019, project funded by Fundação para a Ciência e a Tecnologia (FCT)/Ministério da Ciência, Tecnologia e Ensino Superior (MCTES) through Fundos do Orçamento de Estado. Work in MG-C lab is supported by UID/MULTI/04046/2019 Research Unit grant from FCT, Portugal (to BioISI) and FCT research grant PTDC/BIA-CEL/29257/2017.info:eu-repo/semantics/publishedVersio