Galactosemia: genotipo y fenotipo de siete pacientes

Rev Neurol. 2004 Jun 16-30;38(12):1132-5. [Galactosemia: the genotype and phenotype of seven patients]. [Article in Spanish] Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. SourceUnidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. [email protected] Abstract INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation

Leveraging open hardware to alleviate the burden of COVID-19 on global health systems.

With the current rapid spread of COVID-19, global health systems are increasingly overburdened by the sheer number of people that need diagnosis, isolation and treatment. Shortcomings are evident across the board, from staffing, facilities for rapid and reliable testing to availability of hospital beds and key medical-grade equipment. The scale and breadth of the problem calls for an equally substantive response not only from frontline workers such as medical staff and scientists, but from skilled members of the public who have the time, facilities and knowledge to meaningfully contribute to a consolidated global response. Here, we summarise community-driven approaches based on Free and Open Source scientific and medical Hardware (FOSH) as well as personal protective equipment (PPE) currently being developed and deployed to support the global response for COVID-19 prevention, patient treatment and diagnostics

Seagrass debris as potential food source to enhance Holothuria arguinensis' growth in aquaculture

Holothuria arguinensis aquaculture started to be developed in 2014, being the first sea cucumber species from Europe. However, some aspects of its aquaculture biotechnology, such diets, need to be assessed. This work aimed to evaluate seagrass debris of Zostera noltii and Cymodocea nodosa as food source for broodstock maintenance in tanks, during breeding periods. The given feed rations per tank were calculated as the 30% of the total sea cucumber biomass in each tank and reviewed each week. Then, feed rations of seagrass and sediment were calculated from this value, according to the following percentages: 40% sediment, 15% Z. noltii, 40% Z. noltii, 15% C. nodosa and 40% C. nodosa. H. arguinensis growth, feeding rate and nutritional value were assessed under these diets. H. arguinensis fed with 40% of Z. noltii showed the highest growth (specific growth rate = 0.09 +/- 0.06%/day, absolute growth rate = 0.11 +/- 0.07 g/day) increasing their final weight in 5.86 +/- 3.57% in 57 days. However, the individuals fed with C. nodosa showed a negative growth. H. arguinensis showed a reduction in its feeding rate as the organic matter content in the diets increased. H. arguinensis did not show any important change on proximate composition, protein, lipid, mineral contents and fatty acids profile among the feeding groups, or in comparison with the individuals collected from wild habitat. Therefore, H. arguinensis could be fed with Z. noltii debris during tanks maintenance along breeding period, ensuring its growth and maintaining its nutritional profile.Fundacao para a Ciencia e a TecnologiaPortuguese Foundation for Science and TechnologyEuropean Commission [CCMAR/SC/BI/02/2016, FRH/BD/105541/2014, IF/00049/2012, IF/00998/2014, PTDC/MAR-BIO/5948/2014, PTDC/MAR/119363/2010, SFRH/BPD/70689/2010]http://creativecommons.org/licenses/by/4.0

Deep Convolutional Autoencoders as Generic Feature Extractors in Seismological Applications

The idea of using a deep autoencoder to encode seismic waveform features and then use them in different seismological applications is appealing. In this paper, we designed tests to evaluate this idea of using autoencoders as feature extractors for different seismological applications, such as event discrimination (i.e., earthquake vs. noise waveforms, earthquake vs. explosion waveforms, and phase picking). These tests involve training an autoencoder, either undercomplete or overcomplete, on a large amount of earthquake waveforms, and then using the trained encoder as a feature extractor with subsequent application layers (either a fully connected layer, or a convolutional layer plus a fully connected layer) to make the decision. By comparing the performance of these newly designed models against the baseline models trained from scratch, we conclude that the autoencoder feature extractor approach may only perform well under certain conditions such as when the target problems require features to be similar to the autoencoder encoded features, when a relatively small amount of training data is available, and when certain model structures and training strategies are utilized. The model structure that works best in all these tests is an overcomplete autoencoder with a convolutional layer and a fully connected layer to make the estimation

Altered gene expression in human placenta after suspected preterm labour

Introduction Suspected preterm labour occurs in around 9% of pregnancies. However, almost two-thirds of women admitted for threatened preterm labour ultimately deliver at term and are considered risk-free for fetal development. Methods We examined placental and umbilical cord blood samples from preterm or term deliveries after threatened preterm labour as well as term deliveries without threatened preterm labour. We quantitatively analysed the mRNA expression of inflammatory markers (IL6, IFN?, and TNFa) and modulators of angiogenesis (FGF2, PGF, VEGFA, VEGFB, and VEGFR1). Results A total of 132 deliveries were analysed. Preterm delivery and term delivery after suspected preterm labour groups showed similar increases in TNFa expression compared with the term delivery control group in umbilical cord blood samples. Placental samples from preterm and term deliveries after suspected preterm labour exhibited significantly increased expression of TNFa and IL6 and decreased expression of IFN?. Suspected preterm labour was also associated with altered expression of angiogenic factors, although not all differences reached statistical significance. Discussion We found gene expression patterns indicative of inflammation in human placentas after suspected preterm labour regardless of whether the deliveries occurred preterm or at term. Similarly, a trend towards altered expression of angiogeneic factors was not limited to preterm birth. These findings suggest that the biological mechanisms underlying threatened preterm labour affect pregnancies independently of gestational age at birth

The regime of climate-related disturbance and nutrient enrichment modulate macroalgal invasions in rockpools

Patterns of invasion by the seaweeds Grateloupia turuturu Yamada and Sargassum muticum (Yendo) Fensholt under crossed combinations of the regime (mean intensity and temporal variability) of climate-related mechanical disturbance and constant nutrient enrichment were experimentally examined in rockpools in north Portugal. The cover of both species was larger under high compared to low intensity of disturbance, but this effect was enhanced by events more heterogeneously distributed over a period of 19 months. The invasion by G. turuturu was also larger in enriched pools, but only when disturbance was applied at high intensity. The richness of native taxa was increased by high intensity events of disturbance evenly distributed over time and by low intensity events heterogeneously distributed, while no differences were documented for other treatments. Temporal variability of disturbance and nutrients interactively affected the total cover of native taxa and the availability of bare rock in different directions. Enriched conditions increased the space occupancy by natives and reduced substratum availability only when associated to heterogeneous events of disturbance. At the same time, relatively more variable disturbances caused a reduced cover by native taxa and an increased availability of free space, but only under natural nutrient levels. Present findings contribute to understand the conditions that would be more likely to facilitate the spread of G. turuturu and S. muticum under current and predicted scenarios of compounded environmental changes and in relation to traits of recipient systems that are considered relevant for the success of invasions, including the native richness and the degree of usage of resources, i.e. primarily space

Probabilidade de acontecimentos envolvendo aspetos lógicos

In this article, we study the Probability's knowledge of prospective primary school teachers, when there are logical aspects involved in the formulation of events. Forty-six students participated in the study, from a University in Northern Portugal, who had to resolve a three-item task in the context of a formal evaluation: the first one, on the union probability (connective or), the second one, on the joint probability (connective and), and the third one, on the conditional probability, in which the conditioned event is, in turn, a joint probability (connective and). In terms of the main results of the study, it was found that the students showed a very limited performance, frequently changing the connectives and and or, the inclusive disjunction with the exclusive disjunction and in the disjunction considered as incompatible non-disjoint events.Neste artigo estuda-se o conhecimento de Probabilidades de futuros professores dos primeiros anos escolares, quando na formulação dos acontecimentos estão envolvidos aspetos lógicos. Participaram no estudo 46 alunos da Licenciatura em Educação Básica, de uma Universidade do Norte de Portugal, os quais resolveram uma tarefa, com três itens, em contexto de avaliação formal: o primeiro sobre a probabilidade da reunião (conetivo ), o segundo sobre a probabilidade conjunta (conetivo ) e o terceiro sobre a probabilidade condicionada, em que o acontecimento condicionado é, por sua vez, uma probabilidade conjunta (conetivo ). Em termos dos principais resultados do estudo, verificou-se que os alunos revelaram um desempenho muito limitado, trocando, frequentemente, os conetivos e , a disjunção inclusiva com a disjunção exclusiva e na disjunção consideraram como sendo incompatíveis acontecimentos não disjuntos.Este trabalho contou com o apoio de Fundos Nacionais através da FCT – Fundação para a Ciência e a Tecnologia no âmbito do projeto PEst-OE/CED/UI1661/2014, do CIEd-UM e do projeto UID/Multi/04016/2016