Popeye Deformity: a Red Flag for Wild-Type Transthyretin Amyloidosis

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Stability of reset switched systems

In this note, we consider switched systems and switched systemswith state reset. In particular we focus on the case of partial reset, i.e.,where only some state components may undergo the action of a reset. Firstwe consider switched systems with pre-specified (partial) reset and investigateunder which conditions such systems are stable. In a second stagewe consider the problem of stabilization by (partial) reset, which consistsin finding a suitable (partial) reset for a given switched system that makesthis system stable under arbitrary switching

Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular basis and expanded clinical phenotype

Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cerebellar ataxia with neuropathy and oculomotor apraxia. We used homozygosity mapping and exome sequencing to identify the MAG variant, and cellular studies to confirm its detrimental effect. Our results showed that this variant reduces protein stability and impairs the post-translational processing (N-linked glycosylation) and subcellular localization of MAG, thereby associating a loss of protein function with the phenotype. Therefore, MAG variants should be considered in the diagnosis of hereditary cerebellar ataxia with oculomotor apraxia, in addition to spastic paraplegia.This work was funded by National Funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., under the project UIDB/04293/2020. It was also funded by FEDER funds through the Programa Operacional Factores de Competitividade—COMPETE 2020 and by Nacional funds through the FCT [COMPETE: POCI-01-0145-FEDER-007440]. This work was also funded in part by the FCT grant FCT-ANR/BEX-GMG/0008/2013 and the Porto Neurosciences and Neurologic Disease Research Initiative at the i3S (Norte-01-0145-FEDER-000008), supported by Norte Portugal Regional Operational Programme (NORTE 2020) under the PORTUGAL 2020 Partnership Agreement, also through FEDER. The authors also acknowledge the support of the i3S Scientific Platform Advanced Light Microscopy, member of the PPBI (PPBI-POCI-01-0145-FEDER-022122) and GenomePT (POCI-01-0145-FEDER-022184). MS was the recipient of a fellowship (SFRH/BPD/116046/2016) from the FCT supported by POPH/MCTES funding

Pseudohypoparathyroidism type I-b with neurological involvement is associated with a homozygous PTH1R mutation

Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. With disease progression the patient developed cognitive disturbance, PTH levels were found to be slightly elevated and a picture of PTH resistance syndrome seemed more probable. The diagnosis of PHP1b was established after the study of family members and blunted urinary cAMP results were obtained in a PTH stimulation test. Integration of whole genome genotyping and exome sequencing data supported this diagnosis by revealing a novel homozygous missense mutation in PTH1R (p.Arg186His) completely segregating with the disease. Here, we demonstrate segregation of a novel mutation in PTH1R with a phenotype of PHP1b presenting with neurological symptoms, but no bone defects. This case represents the extreme end of the spectrum of cognitive impairment in PTH dysfunction and defines a possible novel form of PHP1b resulting from the impaired interaction between PTH and PTH1R

Active carboxymethylcellulose-based edible films: influence of free and encapsulated curcumin on films properties

Carboxymethylcellulose (CMC)-based films can act as a protective barrier in food surfaces and a carrier of bioactive compounds, such as curcumin. However, incorporating curcumin in hydrophilic matrixes can be a challenge, and new strategies need to be explored. In this work, CMC-based films containing free curcumin and curcumin-loaded nanohydrogels (composed of lactoferrin and glycomacropeptide) were produced and characterized. The incorporation of curcumin-loaded nanohydrogels showed a significant decrease in films thickness (from 0.0791 to 0.029 mm). Furthermore, the water vapor permeability of CMC-based films was significantly decreased (62%) by incorporating curcumin-loaded nanohydrogels in the films. The water affinitys properties (moisture, solubility, and contact angle) of films were also affected by incorporating encapsulated curcumin. The addition of nanohydrogels to CMC-based films reduced the tensile strength values from 16.46 to 9.87 MPa. Chemical interactions were analyzed using Fourier transform infrared spectroscopy. The release profile of curcumin from CMC-based films was evaluated at 25 °C using a hydrophilic food simulant and suggests that the release mechanism of the curcumin happens by Ficks diffusion and Case II transport. Results showed that protein-based nanohydrogels can be a good strategy for incorporating curcumin in edible films, highlighting their potential for use in food applications.Portuguese Foundation for Science and Technology (FCT) under the scope of the strategic funding of UID/BIO/04469/2013 unit and COMPETE 2020 (POCI-01-0145-FEDER-006684) and BioTecNorte operation (NORTE-01-0145-FEDER-000004) funded by the European Regional Development Fund under the scope of Norte2020—Programa Operacional Regional do Norte. Maria José Costa is recipient of a fellowship supported by a doctoral program (SFRH/BD/122897/2016) funded by the Portuguese Foundation for Science and Technology (FCT, POPH-QREN and FSE Portugal)info:eu-repo/semantics/publishedVersio

Medicamentos e alergias alimentares: presença de proteína do leite de vaca, glúten e/ou soja em antibióticos

Poster apresentado na 3ª rRACS - Reunião Internacional da Rede Académica das Ciências da Saúde da Lusofonia. 28 e 29 de Setembro de 2020, (online), PortugalN/

Monoazo and diazo dye decolourisation studies in a methanogenic UASB reactor

Mixed anaerobic bacterial consortia have been show to reduce azo dyes and batch decolourisation tests have also demonstratedthat predominantly methanogenic cultures also perform azo bond cleavage. The anaerobic treatment of wool dyeing effluents, which contain acetic acid, could thus be improved with a better knowledge of methanogenic dye degradation. Therefore, the decolourisation of two azo textile dyes, a monoazo dye (Acid Orange 7, AO7) and a diazo dye (Direct Red 254, DR254), was investigated in a methanogenic laboratory-scale Upflow Anaerobic Sludge Blanket (UASB), fed with acetate as primary carbon source. As dye concentration was increased a decrease in total COD removal was observed, but the acetate load removal (90%) remained almost constant.Acolour removal level higher than 88%was achieved for both dyes at aHRT of 24 h. The identification by HPLC analysis of sulfanilic acid, a dye reduction metabolite, in the treated effluent, confirmed that the decolourisation process was due mainly to azo bond reduction. Although, HPLC chromatograms showed that 1-amino-2-naphthol, the other AO7 cleavage metabolite, was removed, aeration batch assays demonstrated that this could be due to auto-oxidation and not biological mineralization. At a HRT of 8 h, a more extensive reductive biotransformation was observed for DR254 (82%) than for AO7 (56%). In order to explain this behaviour, the influence of the dye aggregation process and chemical structure of the dye molecules are discussed in the present work

Design Service Life of RC Structures with Self-Healing Behaviour to Increase Infrastructure Carbon Savings

Corrosion of reinforced concrete (RC) structures costs the UK GBP 23b annually and is one of the main durability problems contributing to the development of rust, spalling, cracking, delamination, and structural deterioration. This paper intends to demonstrate the benefit of using tailored self-healing bacteria-based concrete for RC corrosion minimisation and service life increase. The purpose was to evaluate the enhancement in the lifespan of the structure exposed to a harsh marine microenvironment by utilising a probabilistic performance-based method. Comparison is made with the performance of a commercially available solution and in terms of embodied carbon impact. Three different concretes, using CEM I 52.5N, CEM II/A-D, and CEM III/A, were tested with and without an iron-respiring bioproduct (BIO) and an added admixture corrosion inhibitor (AACI). Results show that bioproduct significantly contributes to service life increase of RC structures with CEMIII/A. The repair solution with self-healing behaviour not only increases RC service life, but also enables us to decrease the required cover thickness from 60 mm to 50 mm in an XS2 chloride environment. In both XS2 and XS3 environments, a comparison of CEMIII/A+BIO and CEMII/A-D+AACI concrete shows the benefit of using bioproduct in corrosion inhibition context, besides contributing to an embodied carbon reduction of more than 20

Biomineralisation to Increase Earth Infrastructure Resilience.

The vulnerability of buildings and structures to rain and flooding due to a lack of adaptive capacity is an issue all over the world. Exploring the bio-resources availability and engineering performance is crucial to increase infrastructure's resilience. The current study analyses earth-based mortars using mineral precipitation as a biostabiliser (bio) and compares their performance with cement-based mortars. Cultures of S. oneidensis with a concentration of 2.3 × 108 cfu/mL were used to prepare earth-based and cement-based mortars with a ratio of 6% of binder. Microstructure analyses through SEM/EDS, water absorption, moisture buffering, mechanical strength, and porosity are discussed. The biostabiliser decreases water absorption in tidal-splash and saturated environments for earth and cement mortars due to calcium carbonate precipitation. The biostabiliser can prevent water migration more effectively for the cement-based (60% reduction) than for the earth-based mortars (up to 10% reduction) in the first 1 h of contact with water. In an adsorption/desorption environment, the conditions favour desorption in cem+bio, and it seems that the biostabiliser precipitation facilitates the release of the chemicals into the mobile phase. The precipitation in the earth+bio mortar porous media conditions favours the adsorption of water molecules, making the molecule adhere to the stationary phase and be separated from the other sample chemicals. The SEM/EDS performed for the mortars confirms the calcium carbonate precipitation and shows that there is a decrease in the quantity of Si and K if the biostabiliser is used in cement and earth-mortars. This decrease, associated with the ability of S. oneidensis to leach silica, is more impressive for earth+bio, which might be associated with a dissolution of silicate structures due to the presence of more water. For the tested earth-based mortars, there was an increase of 10% for compressive and flexural strength if the biostabiliser was added. For the cement-based mortars, the strength increase was almost double that of the plain one due to the clay surface negative charge in the earth-based compositions

Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sneddon's Syndrome of Unknown Cause

BACKGROUND: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), characterized by recurrent fevers and vascular pathologic features that included LR and stroke. All the patients carried recessively inherited mutations in cat eye syndrome chromosome region candidate 1 gene (CECR1), encoding the adenosine deaminase 2 (ADA2) protein. Genetic testing is the standard for the diagnosis of DADA2. However, the diagnostic accuracy of more affordable laboratorial analysis in CECR1-mutated individuals remains to be established. We aim to determine whether plasma ADA2 activity and serum immunoglobulin M (IgM) levels can distinguish (1) DADA2 from other adult patients within the SnS spectrum, and (2) healthy CECR1 heterozygous (HHZ) from healthy controls (HC). METHODS: ADA2 activity in plasma and serum IgM concentrations was measured in adult patients within the SnS spectrum, healthy first-degree relatives and HC. Genetic results were used as the reference standard. The primary outcome measures were sensitivity and specificity derived from receiver operating curve analysis. RESULTS: A total of 73 participants were included in the study: 26 patients with PSnS with no CECR1 mutation (PSnS), 6 bi-allelic (DADA2 patients) and 7 HHZ CECR1 mutations and 34 HC. Plasma ADA2 activity and serum IgM levels were significantly lower in DADA2 patients than in PSnS. With the use of the best indexes, plasma ADA2 activity differentiated PSnS from DADA2 with a sensitivity and specificity of 100.0% and HHZ from HC with a sensitivity of 97.1% and specificity of 85.7%. Serum IgM levels also differentiated PSnS from DADA2 with a sensitivity of 85.2% and specificity of 83.3%. CONCLUSION: Serum IgM levels might be used as a triage tool and plasma ADA2 activity performs perfectly as a diagnostic test for DADA2 in adult patients within the SnS spectrum. ADA2 activity in plasma also reliably distinguishes HHZ from HC.info:eu-repo/semantics/publishedVersio