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Projeto de investigação
Laboratory of Separation and Reaction Engineering
Financiador
Autores
Publicações
The Effect of a Naturally Ventilated Roof on the Thermal Behaviour of a Building under Mediterranean Summer Conditions
Publication . Ramos, João; Aires, Luis
With the increasing cost associated with energy consumption, climate change and the greater awareness of the population to issues related to energy and environmental efficiency, energy conservation in buildings has been encouraged, along with the development of several solutions based on a more sustainable construction. Building cooling is the most challenging issue in the Mediterranean climate. The roof is one of the main elements of the building’s opaque envelope, where the choice of materials and the implementation of appropriate passive technologies determine the thermal performance of a building. The present work aims to assess the impact of natural ventilation of a roof cavity on the thermal environment of a dwelling house under Mediterranean summer conditions. An experimental study was developed in a small-scale prototype of a typical dwelling house, comprising a ceramic tile roof with vented eaves and insulated sub-tile panels according to the construction solution of the Humbelino Monteiro SA company. The thermal performance of this roof solution was assessed under real climatic conditions based on continuous measurements of the air velocity inside the air gap, the temperature of the air and the surface temperature of all roof layers. Weather conditions were also monitored continuously. Connected with the heat transfer mechanisms, the obtained temperature and air velocity profiles data were analysed and discussed.
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.
Unidades organizacionais
Descrição
Palavras-chave
Cyclic Separation and Reaction Processes,Product Engineering,Catalysis and Carbon Materials,Thermodynamics and Environment,
Contribuidores
Financiadores
Entidade financiadora
Fundação para a Ciência e a Tecnologia, I.P.
Programa de financiamento
Financiamento do Plano Estratégico de Unidades de I&D - 2019
Número da atribuição
UID/EQU/50020/2019