CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2

RASGRP2 encodes the calcium and diacylglycerol (DAG)-regulated guanine nucleotide exchange factor I (CalDAG-GEFI) identified as a Rap1-activating molecule. Pathogenic variants previously identified in RASGRP2 allowed the characterization of CalDAG-GEFI deficiency as a non-syndromic, autosomal recessive platelet function disease. We report on the clinical manifestations and laboratory features of a Portuguese family with a likely pathogenic variant in RASGRP2 (c.999G>C leading to a p.Lys333Asn change in the CDC25 catalytic domain of CalDAG-GEFI) and discuss the contribution of this variant to the disease manifestations. Based on the study of this family with one homozygous patient and five heterozygous carriers and on a critical analysis of the literature, we challenge previous knowledge that CalDAG-GEFI deficiency only manifests in homozygous patients. Our data suggest that at least for the RASGRP2 variant reported herein, there is a phenotypic expression, albeit milder, in heterozygous carriers.     

Mid‐infrared spectroscopy as a tool for real‐time monitoring of ethanol absorption in glycols

Fast, simple, accurate, and inexpensive methods for obtaining analyte concentration data are desirable in the industrial sector. In the present study, the use of Fourier transform mid‐infrared (FT‐MIR) spectroscopy, combined with partial least squares (PLS) regression, was investigated as a tool for real‐time monitoring of processes of ethanol absorption in glycols. Calibration was performed using simple synthetic samples containing ethanol, water, and monoethylene glycol (MEG) or diethylene glycol (DEG). The PLS models presented excellent performance, with correlation coefficients (R²) close to unity and root‐mean‐square errors of cross‐validation (RMSECV) and prediction (RMSEP) lower than 2% of the calibration data ranges for both analytes (ethanol and water) in both absorbents (MEG and DEG). The monitoring technique developed has potential to be applied in absorption processes and could also be used in other large‐scale unit operations, providing information in real time and enhancing process control.     

Genetic Susceptibility to Periodontal Disease in Down Syndrome: A Case-Control Study

Severe periodontitis is prevalent in Down syndrome (DS). This study aimed to identify genetic variations associated with periodontitis in individuals with DS. The study group was distributed into DS patients with periodontitis (n = 50) and DS patients with healthy periodontium (n = 36). All samples were genotyped with the “Axiom Spanish Biobank” array, which contains 757,836 markers. An association analysis at the individual marker level using logistic regression, as well as at the gene level applying the sequence kernel association test (SKAT) was performed. The most significant genes were included in a pathway analysis using the free DAVID software. C12orf74 (rs4315121, p = 9.85 × 10⁻⁵, OR = 8.84), LOC101930064 (rs4814890, p = 9.61 × 10⁻⁵, OR = 0.13), KBTBD12 (rs1549874, p = 8.27 × 10⁻⁵, OR = 0.08), PIWIL1 (rs11060842, p = 7.82 × 10⁻⁵, OR = 9.05) and C16orf82 (rs62030877, p = 8.92 × 10⁻⁵, OR = 0.14) showed a higher probability in the individual analysis. The analysis at the gene level highlighted PIWIL, MIR9-2, LHCGR, TPR and BCR. At the signaling pathway level, PI3K-Akt, long-term depression and FoxO achieved nominal significance (p = 1.3 × 10⁻², p = 5.1 × 10⁻³, p = 1.2 × 10⁻², respectively). In summary, various metabolic pathways are involved in the pathogenesis of periodontitis in DS, including PI3K-Akt, which regulates cell proliferation and inflammatory response.     

Highly translucent nanostructured glass-ceramic

Transparent and translucent glass-ceramics (GCs) are found in an increasing number of domestic and high-technology applications. In this paper, we evaluated and optimized the effects of two-stage heat treatments on the resulting crystalline phases and microstructure of a glass of the SiO₂–Li₂O–P₂O₅–TiO₂–CaO–ZnO–Al₂O₃ system. The objective was to develop a transparent nanostructured glass-ceramic (GC). After numerous heat treatment trials, we found that a long nucleation period of 72 h at 455 °C followed by a crystal growth treatment at 660 °C for 2 h resulted in a highly translucent GC having homogenously distributed nanocrystals. The relatively high amount of P₂O₅ (2.5 mol%) induced the formation of lithium disilicate as the main crystal phase. We thus developed a GC having crystals under 50 nm, with a high crystallized fraction (52%vol. Li₂Si₂O₅ and 26% vol Li₂SiO₃), transmittance of approximately 80% in the visible spectrum for 1.2 mm thick specimens, nano hardness of 8.7 ± 0.1 GPa (load of 400 mN), a high elastic modulus of 138 ± 3 GPa as measured by nanoindentation, and good flexural strength (350 ± 40 MPa) as measured by ball-on-3 balls tests. Due to its high content of Li⁺, this GC has the potential to be chemically strengthened and can be further developed to be used in a number of applications, such as on displays of electronic devices.     

WO3 pillar-type and helical-type thin film structures to be used in microbatteries

In the present study WO₃ thin films were deposited by sputtering onto ITO glass, W/ITO and Si substrates by using the glancing angle deposition (GLAD) technique, with the objective of applying these materials in electrochemical intercalation devices. The thin films microstructure and electrochemical behavior were determined through scanning electron microscopy (SEM) and cycling at constant current with potential limitation. By mainly adjusting the substrate holder speed rotation, pillar-type and helical-type structures were obtained under high and low speed rotation levels, respectively. The electrochemical results showed that the best charge capacity performance was obtained for the WO₃/W/ITO films with pillar-type structures, which are more porous.     

Assessing the effects of hydrological and chemical stressors on macroinvertebrate community in an Alpine river: The Adige River as a case study

In this study, the combined effects of hydrological and chemical stressors on benthic macroinvertebrates were evaluated in order to explore the response of the biological community to multiple stressors. The Adige River, located in the south‐eastern Alps, was selected as a case study because representative of the situation of a large river in which the variety of stressors present in the Alpine region act simultaneously. As expected, streamflow showed a seasonal pattern, with high flows in the spring–summer period; however, locally, the natural hydrological regime was altered by the presence of hydropower systems, which chiefly affected low flows. Multivariate analysis showed seasonal and spatial patterns in both chemical and hydrological parameters with a clear gradient in the concentration of nitrate, personal care, and pharmaceutical products moving from headwaters to the main stem of the river. The macroinvertebrate community composition was significantly different in summer and winter and between up and downstream sites. Streamflow alteration chiefly due to water use by hydropower affected community composition but not richness or diversity. Gammarus sp., Hirudinea, and Psychomyia sp., were positively correlated with flow variability, increasing their densities in the sites with higher streamflow variability because of hydropeaking. The results obtained in this study show that the composition of the macroinvertebrate community responded to seasonality and to changes in the main stressors along the river and highlights the importance of the spatial and temporal variability of stressors in this Alpine river. Taking into account, this variability will help the decision‐making process for improving basin management.     

Crude oil aggregation by microscopy and dynamic light scattering

This research is focused on establishing a methodology to evaluate the aggregation state of Mexican crude oil solutions from two different sources and SARA compositions, by using Dynamic Light Scattering (DLS). Different crude oil concentrations were established and monitored through time in order to determine their effects on the aggregation state. DLS results indicate that the aggregation state of the studied solutions is influenced by crude oil composition, specifically by the amount of resins. Particle size and elemental analysis of the aggregates were performed by Scanning Electron Microscopy (SEM) and Energy Dispersive X-ray Spectroscopy (EDX), respectively. Results from these techniques reveal particulated low-porosity smooth surfaces due to the presence of resin, as well as the determination of the characteristic elements found in asphaltenes. High-Resolution Transmission Electron Microscopy (HTEM) indicated the presence of asphaltene aggregates constituted by nanometric particles and asphaltene stacking as well as ultrafine nanocrystalline-oriented structures.     

DETERMINATION OF DIACETYL IN BEER USING DIFFERENTIAL-PULSE POLAROGRAPHY

A Polarographie method is proposed for the determination of diacetyl and other vicinal diketones in beer. Similar to the EBC official spectrophotometric method, diacetyl is derivatised with o-phenylene-diamine, producing 2,3-dlmethylquinoxaline, a polarographically active compound . The Polarographic method allows discrimination between diacetyl and methylglyoxal and a detection limit ten times lower than the EBC method is obtained. In addition, problems of erratic results for diacetyl may be avoided and data are in good agreement with those obtained by gas chromatography with electron capture detection and headspace sampling . It is suggested that high results obtained with the spectrophotometric method may be attributed to an erroneous procedure used in the spectrophotometric calculations. An alternative procedure is proposed, with which lower values for diacetyl in beer are obtained, similar to those found with other methods. These low diacetyl values are near the detection limit of the spectrophotometric method .     

Microbiological hazards involved in fresh‐cut lettuce processing

BACKGROUND: The increasing consumption of produce all over the world has resulted in increasing concern by the regulatory agencies with respect to the level of safety performed by the processors. The objective of the present study was to investigate the hazards involved in the various steps of fresh‐cut lettuce processing (reception/selection of raw material, washing, rinsing, sanitisation and final product) by means of microbiological analyses of microbial groups used as indicators of hygienic conditions and of pathogens. RESULTS: High microbial loads of mesophilic and psychrotrophic bacteria and Pseudomonas spp. were found in the ram reception (～6 log colony‐forming units (CFU) g^?1), which were reduced by a single logarithmic cycle for the last two microbial groups after the sanitisation step (P < 0.05), the latter being ineffective against the first microbial group (P > 0.05). Lower counts of yeasts and moulds, total coliforms (35 °C) and faecal coliforms (44 °C) were observed in the initial step (3.49–4.53 log CFU g^?1, 0.65–1.55 log most probable number (MPN) g^?1 and 0.50–0.90 log MPN g^?1 respectively), these values increasing significantly after the sanitisation step for yeasts and moulds (～5 log CFU g^?1) but remaining unaltered for coliforms (P > 0.05). Salmonella spp. were not found in any of the experiments carried out, while the presence of Escherichia coli was observed in the final product. CONCLUSIONS : Practices compromising the hygienic quality of the final product during commercial storage were observed and corrective measures suggested. To the best of the authors' knowledge, these are the first data on microbiological safety in Brazilian fresh‐cut processing plants. Copyright © 2008 Society of Chemical Industry     

Cholesterol‐Lowering Properties of Whole Cowpea Seed and Its Protein Isolate in Hamsters

ABSTRACT: Hypercholesterolemic hamsters were fed for 4 wk on diets rich in saturated fatty acids and cholesterol, differing only in protein source (20 %): casein (control group, HC), whole cowpea seed (HWS), and cowpea protein isolate (HPI). Hamsters fed on HWS and HPI presented significant reductions in plasma total cholesterol and non‐HDL cholesterol. HPI and HC presented similar protein digestibility, which were significantly higher than that of HWS. Animals fed on HWS presented significantly higher levels of bile acids and cholesterol in feces than did the animals fed on casein or HPI diets. Histological analyses of the liver showed that HC diet resulted in steatosis widely distributed throughout the hepatic lobule, while HWS and HPI diets promoted reductions in liver steatosis. The effectiveness of HWS for modulating lipid metabolism was greater than that of HPI, as measured by plasma cholesterol reduction and liver steatosis.