Spina bifida (SB) is a debilitating birth defect caused by multiple gene and environment interactions. Though SB shows non-Mendelian inheritance, genetic factors contribute to an estimated 70% of cases. Nevertheless, identifying human mutations conferring SB risk is challenging due to its relative rarity, genetic heterogeneity, incomplete penetrance, and environmental influences that hamper genome

Celiac disease is a chronic small bowel disease induced by ingestion of gluten in genetically susceptible individuals affecting 1% among Caucasians in the Western world. The prevalence of celiac disease is still unknown in most developing countries, especially in Africa which suffer from lack of resources to perform screening of the general population. The aim of this study was to determine the pr

Atmospheric heavy elements have been observed in more than a quarter of white dwarfs (WDs) at different cooling ages, indicating ongoing accretion of asteroidal material, whilst only a few per cent of the WDs possess a dust disc, and all these WDs are accreting metals. Here, assuming that a rubble-pile asteroid is scattered inside a WD's Roche lobe by a planet, we study its tidal disruption and th

We provide a natural resource explanation for the divergence of the Portuguese economy relative to other European countries before the Second World War. First, we demonstrate that a lack of domestic resources meant that Portugal experienced limited and unbalanced growth during the age of steam. Imports of coal were prohibitively expensive for inland areas. Coastal areas industrialized through stea

It is currently unclear whether plasma biomarkers can be used as independent prognostic tools to predict changes associated with early Alzheimer's disease. In this study, we sought to address this question by assessing whether plasma biomarkers can predict changes in amyloid load, tau accumulation, brain atrophy and cognition in non-demented individuals. To achieve this, plasma amyloid-β 42/40 (Aβ

Maternal vaccination, resulting in transfer of protective IgG across the placenta, represents a promising strategy to prevent neonatal disease caused by group B Streptococcus (GBS). The prototype vaccine GBS-NN, a fusion protein consisting of the N-terminal domains of the alpha-like protein (Alp) family members AlphaC and Rib, has been shown to display a good safety profile and to elicit a strong

In this work, combustion and thermal decomposition processes were studied employing laser-based diagnostic techniques, and the techniques were improved and demonstrated to achieve enhanced detection sensitivity. Raman spectroscopy was employed to study flames under elevated and atmospheric pressures with various fuels, such as methane, hydrogen-enriched methane, DME, ethylene, and ammonia. Raman s

Objective: To prospectively assess anorectal dysfunction using patient-reported outcomes using validated questionnaires, manovolumetry and endoanal ultrasound before and 12 months after RC. Patients and methods: From 2014 to 2019, we prospectively included 44 patients scheduled for RC. Preoperatively and 12 months after surgery, 41 patients filled in a low anterior resection syndrome score (LARS-s

A novel biobased vinyl monomer was synthesized by the reaction of methyl salicylate with methacrylic anhydride. The resulting salicylate based monomer was polymerized by reversible addition fragmentation transfer (RAFT) polymerizations using two or three trithiocarbonate functionalized poly(3-hydroxybutyrate) macro agents. The molecular structures of the obtained polymers were confirmed by NMR spe

Objective: To describe the short- and long-term outcomes of infants with early-onset fetal growth restriction (FGR) and umbilical artery absent or reversed end-diastolic flow (AREDF), delivered before 30 weeks' gestation and managed proactively. Methods: This was a retrospective cohort study of fetuses delivered for fetal indication before 30 completed weeks' gestation that had early-onset FGR (de

Across the world, the pandemic has made many of us rapidly change (at least temporarily) how we organize, work, and live, provoking a series of urgent questions. What is our relationship with the family, community, environment and the state? How should we structure our work? How do we value essential work and workers? How are we going to live, work, and organize differently in a post-pandemic worl

Vapor phase infiltration into a self-assembled block copolymer (BCP) to create a hybrid material in one of the constituent blocks can enhance the etch selectivity for pattern transfer. Mul- tiple pulse infiltration into carbohydrate-based high-χ BCP has previously been shown to enable sub-10 nm feature pattern transfer. By optimizing the amount of infiltrated material, the etch selectiv- ity shoul

Cell-free Massive MIMO systems consist of a large number of geographically distributed access points (APs) that serve the users by coherent joint transmission. The spectral efficiency (SE) achieved by each user depends on the power allocation: which APs that transmit to which users and with what power. In this article, we revisit the max-min and sum-SE power allocation policies, which have previou

The improvements in GPU hardware, including hardware-accelerated ray tracing, and the push for fully dynamic realistic-looking video games, has been driving more research in the use of ray tracing in real-time applications. The work described in this thesis covers multiple aspects such as optimisations, adapting existing offline methods to real-time constraints, and adding effects which were hard