MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.

Summary: Multiple endocrine neoplasia type 2 (MEN2) is a hereditary cancer syndrome caused by germline-activating pathogenic variants in the RET proto-oncogene. MEN2A is the most common subtype, with a risk for medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and primary hyperparathyroidism (PHPT), whereas MEN2B is less common and associated with MTC and PHEO along with mucosal neuromas. Little is known about the specific RET germline heterozygous variant K666N. This variant has been described in very few families, and in most cases, patients were diagnosed with a very indolent MTC as the only feature. There is one case of MTC and bilateral PHEO. The RET K666N variant is not stratified yet by the American Thyroid Association, and data are limited on pathogenicity; therefore, appropriate screening and treatment of asymptomatic RET K666N carriers are unclear. Here, we report a family with a heterozygous germline RET K666N variant. The proband was identified when she experienced cardiogenic shock and multi-organ failure after an elective hysterectomy and subsequently was found to have PHEO, with genetic testing revealing the RET K666N germline variant. Patient consent was obtained through IRB protocol COMIRB #15-0516. Learning Points: The specific RET germline heterozygous variant K666N is rare and described in very few families, and in most cases, patients were diagnosed with a very indolent MTC as the only feature. Our proband is much younger and has PHEO, MTC, and PHPT. The RET K666N germline variant appears to be a low penetrance variant for MEN2.

Selection indices for residual feed intake derived from milk spectra.

Improving production efficiency and minimizing the environmental impact of dairy farming are 2 important goals of the dairy industry. Achieving these objectives requires improving the feed-to-milk conversion efficiency. One way to achieve this goal is through genetic selection. However, measuring feed efficiency in commercial herds is currently not feasible. As such, we conducted a study to evaluate the genetic accuracy of various selection indices derived from Fourier transform mid-infrared (FTIR)-spectra or milk composition. We use 7,793 weekly records on 537 genotyped cows (78,964 SNPs), with information on residual feed intake (RFI), and FTIR-spectra. We fitted various types of selection indexes using the complete FTIR-spectra of milk samples. The estimated heritability of RFI was 0.12 ± 0.02. The accuracy of indirect selection using the FTIR-spectra was maximized using a principal components selection index (0.16 ± 0.07), followed by a Lasso-type penalized selection index (0.14 ± 0.06). We determined that an index based on milk spectral data recorded on ~25 daughters produced a progeny average with an accuracy comparable to direct phenotypic selection for RFI. We conclude that indirect selection for RFI using FTIR-spectra data can be effective for sires with progeny; however, future studies with a larger sample size are needed to validate these results.

Peripheral Arterial Disease prevalence and risk factors in the Eastern Caribbean Health Outcomes Research Network (ECHORN) cohort.

INTRODUCTION: Peripheral arterial disease (PAD) indicates generalised atherosclerotic disease but is often asymptomatic. The prevalence and potential risk factors of PAD were studied in ECHORN cohort study participants. METHODS: Representative samples of community-dwelling people ≥40 years of age residing in Barbados, Puerto Rico, Trinidad, and the USVI were recruited. The survey included questions on diabetes, hypertension, heart disease and smoking status. Body Mass Index, HbA1c, blood glucose and lipids were determined. Ankle brachial index (ABI) was evaluated in one leg. An oscillometric device measured arm and leg systolic BP simultaneously. ABI classifications were PAD ≤0.90, borderline 0.91 to 0.99, normal 1.00 to 1.40, and non-compressible >0.40. Multivariable logistic regression tested associations of potential risk factors with PAD. RESULTS: Of 2772 participants (mean age 57.3, 65.2% female), 35.8% were overweight, 38.1% obese, 32.4% had diabetes, 60% hypertension, and 15.4% reported heart. ABI prevalence (95% CI) by category was PAD 4.4% (3.6%, 5.1%), borderline 5.2% (4.4%, 6.1%), normal 87.0% (85.8%, 88.3%) and noncompressible 3.4% (2.7%, 4.0%). Female sex (OR 1.72, 95% CI 1.07 to 2.77), diabetes (OR 2.23, 95% CI 1.47 to 3.4), heart disease history (OR 1.74, 95% CI 1.07 to 2.83) and less than high school education vs having a university degree (OR 2.49, 95% CI 1.19 to 5.22) were independently associated with PAD. CONCLUSIONS: Testing one leg only would underestimate PAD prevalence. Increasing the ABI cutoff for identifying PAD to <1.0 when using oscillometric devices is suggested by some studies but would more than double the estimated prevalence. Guidelines need to address this issue. Female sex and lower educational attainment are important considerations when screening. While diabetes and a history of heart disease were confirmed as risk factors, the lack of association of increasing age and cigarette smoking with PAD was unexpected.

O armário: Fruiting phenology data for 4,462 plant taxa in Portugal (1926-2013).

Species phenology - the timing of key life events - is being altered by ongoing climate changes with yet underappreciated consequences for ecosystem stability. While flowering is generally occurring earlier, we know much less about other key processes such as the time of fruit ripening, largely due to the lack of comprehensive long-term datasets. Here we provide information on the exact date and site where seeds of 4,462 taxa were collected for the Index Seminum (seed exchange catalogue) of the Botanic Garden of the University of Coimbra, between 1926 and 2013. Seeds were collected from spontaneous and cultivated individuals across Portugal, including both native and introduced taxa. The database consists of 127,747 curated records with information on the species, or infraspecific taxa (including authority), and the day and site where seeds were collected. All records are georeferenced and provided with a confidence interval for the collection site. Taxonomy was first curated manually by in-house botanists and then harmonized according to the GBIF backbone taxonomy.

Sustainable agricultural practices influence s-metolachlor, foramsulfuron and thiencarbazone-methyl degradation and their metabolites formation.

The effect of sustainable agricultural practices, such as mulching or the application of straw residues as an organic amendment, on the degradation, dissipation and persistence in the soil of S-metolachlor (SMOC), foramsulfuron (FORAM) and thiencarbazone-methyl (TCM) is still unclear. The objective here was to conduct a laboratory experiment to evaluate the impact of milled wheat straw (WS) simulating its individual use as mulch or applied as an organic amendment to two agricultural soils: unamended and WS-amended soils on the degradation kinetics of the herbicides SMOC, FORAM and TCM, and on the formation of their major metabolites at two incubation temperatures (14 °C and 24 °C). The degradation rate of SMOC on WS was 6.9-16.7 times faster than that observed for FORAM and TCM at both temperatures. The half-life (DT50) values were 1.1-10.6 times lower for FORAM than for SMOC and TCM in the unamended and WS-amended soils at 14 °C and 24 °C. The application of WS to soils increased the DT50 values from 1.1 to 11.2 times for all the herbicides at both incubation temperatures due to their higher adsorption and lower bioavailability. The herbicides recorded a faster degradation at 24 °C (1.2-3.9 times) than at 14 °C, according to Q10 values >1. SMOC metabolites were more persistent in WS-amended soils than in unamended ones, in agreement with the DT50 values recorded for the parent compound. The results indicate that the effect of the mulch applied to soils as an organic amendment was different depending on the herbicide and incubation temperature. The outcomes of this research can give key suggestions for reducing the effects of residual herbicides following sustainable agricultural practices by avoiding soil and groundwater contamination, which is one of the challenges involved in the application of chemical inputs.

Acerola processing waste: Convective drying with ethanol as pretreatment.

The acerola seed is an agro-industrial waste. It is a high moisture content product, rich in bioactive compounds. Drying is an alternative to make this waste available in a safe condition. The use of ethanol as a pretreatment could improve the drying process besides reducing the operation time. This study aimed to investigate the influence of ethanol pretreatment (ET) on the content of bioactive compounds, cell wall thickness, and color. The drying kinetics was studied, and the influence of external and internal resistance was discussed. The samples were immersed in ethanol for 2 min with subsequent convective drying (40 °C and 60 °C; 1 m s-1) until they reached the equilibrium condition. The ET reduced the drying time up to 36.36 %. The external and mixed control of mass transfer were identified as the governing regimes for drying this material, depending on the use of ethanol. ET led to an increase in effective diffusivity, a reduction in cell wall thickness, and preservation of the color of the dried waste. The ET positively impacted the conservation of ascorbic acid compared to untreated dried samples but was not relevant to phenolic compounds, carotenoids, and antioxidant activity. The drying process increased the bioactivity of the anthocyanins. The best condition was drying at 60 °C, pretreated with ethanol.

Applying 3D ED/MicroED workflows toward the next frontiers.

We report on the latest advancements in Microcrystal Electron Diffraction (3D ED/MicroED), as discussed during a symposium at the National Center for CryoEM Access and Training housed at the New York Structural Biology Center. This snapshot describes cutting-edge developments in various facets of the field and identifies potential avenues for continued progress. Key sections discuss instrumentation access, research applications for small molecules and biomacromolecules, data collection hardware and software, data reduction software, and finally reporting and validation. 3D ED/MicroED is still early in its wide adoption by the structural science community with ample opportunities for expansion, growth, and innovation.

Percolation of straight slots on a square grid.

This work is devoted to the emergence of a connected network of slots (cracks) on a square grid. Accordingly, extensive Monte Carlo simulations and finite-size scaling analysis have been conducted to study the site percolation of straight slots with length l measured in the number of elementary cells of the grid with the edge size L. A special focus was made on the dependence of the percolation threshold p_{C}(l,L) on the slot length l varying in the range 1≤l≤L-2 for the square grids with edge size in the range 50≤L≤1000. In this way, we found that p_{C}(l,L) strongly decreases with increase of l, whereas the variations of p_{C}(l=const,L) with the variation of ratio l/L are very small. Consequently, we acquire the functional dependencies of the critical filling factor and percolation strength on the slot length. Furthermore, we established that the slot percolation model interpolates between the site percolation on square lattice (l=1) and the continuous percolation of widthless sticks (l→∞) aligned in two orthogonal directions. In this regard, we note that the critical number of widthless sticks per unit area is larger than in the case of randomly oriented sticks. Our estimates for the critical exponents indicate that the slot percolation belongs to the same universality class as standard Bernoulli percolation.

Presence of microplastics in the groundwater of volcanic islands, El Hierro and La Palma (Canary Islands).

The increasing amount of plastic litter worldwide is a serious problem for the environment and its biodiversity, ecosystems, animal and human welfare and the economy. The degradation of these plastics leads to microplastics (MPs), which have been reported for the first time in groundwater in the Canary archipelago. This research investigates the presence of MPs at nine different points on La Palma and El Hierro, where samples were collected in galleries, wells and springs during the month of December 2022. Six different polymers were found with Fourier transform infrared spectroscopy (FTIR) - polypropylene (PP), polyethylene (PE), cellulose (CEL), polyethylene terephthalate (PET), polystyrene (PS) and polymethyl methacrylate (PMMA). The particle concentrations found ranged from 1 to 23 n/L, with a maximum particle size of 1900 µm, the smallest being 35 µm. PP and PE were the most common polymers found in the analysis, associated with the use of packaging, disposable products, textiles and water pipes, related to poorly maintained sewerage networks where leaks occur, allowing these MPs to escape into the environment and end up in groundwater. The detection of microplastic pollution in groundwater emphasises environmental hazards, including biodiversity disruption and water source contamination. Additionally, it presents potential risks to human health by transferring contaminants into the food chain and through respiratory exposure.

Assessing the Fate of Benzophenone-Type UV Filters and Transformation Products during Soil Aquifer Treatment: The Biofilm Compartment as Bioaccumulator and Biodegrader in Porous Media.

The fate of selected UV filters (UVFs) was investigated in two soil aquifer treatment (SAT) systems, one supplemented with a reactive barrier containing clay and vegetable compost and the other as a traditional SAT reference system. We monitored benzophenone-3 (BP-3) and its transformation products (TPs), including benzophenone-1 (BP-1), 4,4'-dihydroxybenzophenone (4DHB), 4-hydroxybenzophenone (4HB), and 2,2'-dihydroxy-4-methoxybenzophenone (DHMB), along with benzophenone-4 (BP-4) and avobenzone (AVO) in all involved compartments (water, aquifer sediments, and biofilm). The reactive barrier, which enhances biochemical activity and biofilm development, improved the removal of all detected UVFs in water samples. Among monitored UVFs, only 4HB, BP-4, and AVO were detected in sediment and biofilm samples. But the overall retained amounts were several orders of magnitude larger than those dissolved. These amounts were quantitatively reproduced with a specifically developed simple analytical model that consists of a mobile compartment and an immobile compartment. Retention and degradation are restricted to the immobile water compartment, where biofilm absorption was simulated with well-known compound-specific Kow values. The fact that the model reproduced observations, including metabolites detected in the biofilm but not in the (mobile) water samples, supports its validity. The results imply that accumulation ensures significant biodegradation even if the degradation rates are very low and suggest that our experimental findings for UVFs and TPs can be extended to other hydrophobic compounds. Biofilms act as accumulators and biodegraders of hydrophobic compounds.

Tunable structure of TiO2 deposited by DC magnetron sputtering to adsorb Cr (VI) and Fe (III) from water.

TiO2 thin films with mixtures of the anatase, rutile, and brookite phases were deposited on glass substrates via magnetron sputtering. Based on XRD and Raman results, the TiO2-0.47 and TiO2-3.47 films principally contained the brookite phase, while the TiO2-1.27 and TiO2-2.13 films were primarily anatase. The capacities of the TiO2 films to adsorb heavy metals were tested with Cr(VI) and Fe(III) solutions, and the maximum Cr(VI) and Fe(III) adsorption capacities were realized with the TiO2-0.47 film (334.5 mg/g) and TiO2-3.47 film (271.3 mg/g), respectively. SEM‒EDS results revealed the presence of Cr and Fe on the surfaces of the films, thus corroborating the ability of the TiO2 films to adsorb and remove heavy metals. They are strong candidates for use in wastewater treatment plants.

Prevalence and correlates of alcohol use among the elderly in the Eastern Caribbean Health Outcomes Research Network (ECHORN) cohort study.

BACKGROUND: Alcohol use is pervasive in the Caribbean; however, the prevalence and correlates of alcohol use and drinking problems in the elderly have not been extensively studied. METHODS: Data were obtained from the Eastern Caribbean Health Outcomes Research Network (ECHORN) Cohort Study, a cohort study of Caribbean people from Puerto Rico, Barbados, Trinidad, and Tobago, and the U.S. Virgin Islands, collected between 2013 and 2018 (baseline study sample, ages 60+, n = 811). Descriptive statistics were used to compare the differences in drinking status (current vs. former vs. never), alcohol problems (Cut-down, Annoyed, Guilty, and Eye-opener (CAGE) scale score ≥2 vs. <2), and binge drinking days (0 days vs. 1-2 days vs. ≥3 days) across sample characteristics. Logistic regression analyses estimated the association of these alcohol measures with sociodemographic (e.g., sex), psychological (depression), and cultural (e.g., religion) correlates. RESULTS: Thirty-six percent were 70 + years of age, 64 % were female, and 41 % had less than a high school education. Alcohol problems (≥2 CAGE score) was 21 %. Binge drinking ≥3 days was 30.6 %. Never attending religious services (vs. attending once a week or more) was associated with almost three times higher odds of alcohol problems (adjusted Odds Ratio: OR = 2.88, 95 % CI = 1.02, 8.15) four times higher odds of increasing binge drinking days (aOR = 4.04, 95 % CI = 1.11, 14.96). College education was protective against both the outcomes. CONCLUSION: We provide current estimates of alcohol problems among elderly Eastern Caribbean people. Among the sociodemographic, psychological, and cultural correlates examined, religious attendance was significant. Replicate longitudinal studies using DSM-5 alcohol dependence are recommended.