Unidade de Investigação – LSRE-LCM – Laboratório de Processos de Separação e Reação – Laboratório de Catálise e Materiais – Polo IPLeiria
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O polo do LSRE-LCM – Laboratório de Processos de Separação e Reação – Laboratório de Catálise e Materiais do Politécnico de Leiria foi criado em 2011 e atualmente integra o maior Laboratório Associado Português em Engenharia Química, ALiCE, com uma intervenção muito relevante nas áreas de Engenharia do Ambiente e da Bioengenharia.
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- Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations*Publication . Onoufriadis, A.; Cabezas, A.; Ng, J. C. F.; Canales, J.; Costas, M. J.; Ribeiro, J. M.; Rodrigues, J. R.; McAleer, M. A.; Castelo‐Soccio, L.; Simpson, M. A.; Fraternali, F.; Irvine, A. D.; Cameselle, J. C.; McGrath, J. A.Background: Loose anagen hair is a rare form of impaired hair anchorage in which anagen hairs that lack inner and outer root sheaths can be gently and painlessly plucked from the scalp. This condition usually occurs in children and is often self-limiting. A genetic basis for the disorder has been suggested but not proven. A better understanding the aetiology of loose anagen hair may improve prevention and treatment strategies. Objectives: To identify a possible genetic basis of loose anagen hair using next-generation DNA sequencing and functional analysis of variants identified. Methods: In this case study, whole-exome sequencing analysis of a pedigree with one affected individual with features of loose anagen hair was performed. Results: The patient was found to be compound heterozygous for two single-nucleotide substitutions in TKFC resulting in the following missense mutations: c.574G> C (p.Gly192Arg) and c.682C> T (p.Arg228Trp). Structural analysis of human TKFC showed that both mutations are located near the active site cavity. Kinetic assays of recombinant proteins bearing either of these amino acid substitutions showed almost no dihydroxyacetone kinase or D-glyceraldehyde kinase activity, and FMN cyclase activity reduced to just 10% of wildtype catalytic activity. Conclusions: TKFC missense mutations may predispose to the development of loose anagen hairs. Identification of this new biochemical pathobiology expands the metabolic and genetic basis of hypotrichosis.
- A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across DiseasesPublication . Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria Grazia; Marques-da-Silva, Dorinda; Magrinho, Salvador C. M.; Jaeken, Jaak; Castro, Larisa Aragon; Freitas, Cláudia de; Videira, Paula A.; Andrés-Aguayo, Luísa de; Ferreira, Vanessa dos ReisAt least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for rare diseases have been found, which demonstrates a lack of standardized approaches. The framework and PEMs were co-developed with CDG families and will be crucial in increasing health literacy and empowering families. We will close a gap in the creation of PEMs for CDG by delivering these resources in lay language in several languages.
- Humic acid aggregates with laccase and decreases the performance of the enzyme catalytic systems through various mechanismsPublication . Lopes, João; Marques-da-Silva, Dorinda; Peralta, Cláudia; Rodrigues, Joaquim Rui; Vaz, Daniela; Lagoa, RicardoLaccases are among the best-rated enzymes for industrial and environmental applications, yet their use in bioremediation is limited by interference from environmental components like humic acid (HA). This study evaluated HA impact on the oxidation of 2,2 ′-azino-bis-(3-ethylbenzothiazoline-6-sulphonate (ABTS) and two model pollutants — anthracene and methyl orange — by laccase( mediator) systems. HA consistently diminished conversion rates, with EC50 values between 5 and 51 mg/L suggesting diverse inhibitory mechanisms. We investigated potential mechanisms including substrate sequestration, radical quenching, and chelation of laccase coppers by HA. Incubations with free and immobilized HA showed that adsorption can impede anthracene degradation, at least at high concentrations, but not methyl orange. Using chemically generated ABTS radical and azide-blocked enzyme, it was demonstrated that HA scavenges free radicals produced by laccase, though this alone did not fully explain the observed interference with catalysis. Further assays with metal chelator and added copper or calcium ruled out HA binding to the laccase metal centers. Instead, data from molecular docking, f luorescence, light scattering, and microscopy revealed that HA forms micrometer-scale aggregates with laccase that encapsulate the enzyme. This newly identified mechanism likely applies broadly to laccase-based systems and must be considered in applications involving aqueous media containing humic substances.
- Low-Protein Diets, Malnutrition, and Bone Metabolism in Chronic Kidney DiseasePublication . Pereira, Cidália D.; Guimarães, Carla; Ribeiro, Vânia S.; Vaz, Daniela C.; Martins, Maria JoãoChronic kidney disease (CKD) has a high prevalence worldwide, with increasing incidence in low- and middle-income countries, and is associated with high morbidity and mortality, particularly from cardiovascular disease. Protein-restricted diets are one of the most widely used non-pharmacological approaches to slow the progression of CKD and prevent associated metabolic abnormalities. However, some concerns have been raised about the long-term safety of these diets, particularly with regard to patients’ nutritional status and bone and mineral disorders. Therefore, the aim of this article is to review the most recent scientific evidence on the relevance of using protein-restricted diets (with or without keto-analogue supplementation) and, in particular, their relationships with malnutrition and mineral and bone disorders in people with CKD without kidney replacement therapies. Although protein-restricted diets, especially when supplemented with keto-analogues and highly personalized and monitored, do not appear to be associated with malnutrition, research on their effects on bone and mineral disorders is scarce, deserving further investigation.
- Oxidative Stress and Inflammatory Response of Skin Fibroblasts Exposed to ChlorpyrifosPublication . Silva, Zélia; Almeida, Danielle; Marques-da-Silva, Dorinda; Lagoa, Ricardo; Videira, Paula A.Chlorpyrifos (CPF) is a widely used insecticide. The aim of this work was to study the effect of CPF in skin fibroblasts exposed to concentrations detected in human skin and unleash underlying cellular mechanisms. Fibroblasts were exposed to different concentrations (0.36–250 µM) of CPF pure alone or in a commercial CPF mixture (Lethal 20) for 6 days. In conclusion, prolonged exposure to 250 µM of CPF pure and 125 µM of Lethal 20 caused a significant loss of the fibroblast´s viability. Moreover, the toxicity of this pesticide in fibroblasts is evidenced by the induction of oxidative stress and stimulation of the production of interleukin (IL)-6.
- Rafting on the Evidence for Lipid Raft-like Domains as Hubs Triggering Environmental Toxicants’ Cellular EffectsPublication . Marques-da-Silva, Dorinda; Lagoa, RicardoThe plasma membrane lipid rafts are cholesterol- and sphingolipid-enriched domains that allow regularly distributed, sub-micro-sized structures englobing proteins to compartmentalize cellular processes. These membrane domains can be highly heterogeneous and dynamic, functioning as signal transduction platforms that amplify the local concentrations and signaling of individual components. Moreover, they participate in cell signaling routes that are known to be important targets of environmental toxicants affecting cell redox status and calcium homeostasis, immune regulation, and hormonal functions. In this work, the evidence that plasma membrane raft-like domains operate as hubs for toxicants’ cellular actions is discussed, and suggestions for future research are provided. Several studies address the insertion of pesticides and other organic pollutants into membranes, their accumulation in lipid rafts, or lipid rafts’ disruption by polychlorinated biphenyls (PCBs), benzo[a]pyrene (B[a]P), and even metals/metalloids. In hepatocytes, macrophages, or neurons, B[a]P, airborne particulate matter, and other toxicants caused rafts’ protein and lipid remodeling, oxidative changes, or amyloidogenesis. Different studies investigated the role of the invaginated lipid rafts present in endothelial cells in mediating the vascular inflammatory effects of PCBs. Furthermore, in vitro and in vivo data strongly implicate raft-localized NADPH oxidases, the aryl hydrocarbon receptor, caveolin-1, and protein kinases in the toxic mechanisms of occupational and environmental chemicals.
- Should Children Drink Water with Very Low Mineral Content? Implications of the Global Expansion of Water Filtration Systems and Relevance of Consumption of Water with Higher Mineralization LevelsPublication . Pereira, Cidália D.; Martins, Maria JoãoThe consumption of water with very low mineral content (W-VLMC; water with total dissolved solids below 50 mg/L), despite limited and inconsistent evidence and the resulting knowledge gaps, has not been associated with health risks for the general population. However, certain population subgroups (those eating very unbalanced diets or avoiding certain foods, engaged in prolonged periods of fasting, and/or doing prolonged or strenuous exercise as well as pregnant or breastfeeding women) should be mindful of maintaining sufficient intake of all essential minerals through their food if regularly using this type of water as their main beverage. The rapid expansion of water filtration systems—often producing W-VLMC—creates a timely and valuable opportunity to advance research on the health implications of W-VLMC intake. As these systems become increasingly common in educational settings and homes, children represent a subgroup experiencing rising exposure to W-VLMC. Additional studies are needed to assess the health effects of such exposure from early childhood. A complementary yet contrasting perspective is that the use of water intended for human consumption—with stringent quality control standards—and natural mineral waters—inherently pure, thus eliminating the need for filtration—with higher mineralization in both types of water, may provide an additional dietary source of essential minerals, especially for all the population subgroups mentioned above.
- Sustainability Assessment of Building Rehabilitation Solutions: The Mid 70s Portuguese BuildingPublication . Reis, Alexandre; Heleno, Lizete; Monteiro, Silvia; Oliveira, Nelson S.The Energy Performance of Buildings Directive (EPBD) establishes improvements to buildings’ comfort conditions and energy performance, bringing them closer to buildings with almost zero energy needs, namely the Nearly Zero Energy Building (NZEBs). The assessment tools for sustainable construction, more recognized internationally, are LEED and BREEAM, and in Portugal is the LiderA. The application of those tools promotes energy efficiency and decarbonization of buildings, as referred to in the Portuguese Long-Term Strategy for Building Renovation (LTRS-PT) until 2050. In this case, a house representative of the construction of the period between 1971 and 1980 in Portugal was chosen to evaluate environmental sustainability using LiderA. In the current conditions, the LiderA rating class of the house was D. To improve the performance of the building were identified balanced rehabilitation solutions without excessive automation. The presented solutions should avoid transforming the house into a complicated device with operational difficulties or specialized operation. In this way, the proposed interventions in the building and systems are based on renewable sources, prioritizing energy and water efficiency. Furthermore, as a contribution to the health and well-being of the occupants, we considered measures related to indoor air quality (IAQ) and noise minimization. In addition, the encouragement of native species has contributed to ecological enhancement. With that proposals, the house rating class using LiderA improved from class D to class A+.