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Evaluation of serum samples in long cryopreservation for SomaScan proteomics and sex differences in elderly Japanese adults
Abstract Many biobanks store biological samples and use them for various analyses, including proteomics. Therefore, it is necessary to consider the denaturation of target proteins during long-term storage. We analyzed 16-year-old cryopreserved serum samples using the SomaScan platform, a novel proteomic assay, to determine whether adiponectin and resistin concentrations were consistent with those measured in our previous studies using a different platform. The results suggested that long-term cryopreserved serum samples could be used for future studies of at least adiponectin and resistin, which are closely related to the pathophysiology of diabetes, cardiovascular disease, and other metabolic diseases. Therefore, 7,289 SomaScan-assayed circulating proteins were compared between 20 men and 20 women aged ≥ 50 to determine sex differences. In total, 20 serum proteins showed significant sex differences. Of these, proteins that showed a more than two-fold difference in concentration between sexes contained heterodimeric forms of gonadotropic proteins such as CGA|FSHB, CGA|CGB3|CGB7, and CGA|LHB, which are the biologically active forms of these hormones. The present study is the first to report the possibility of using long-term cryopreserved serum samples for the SomaScan assay, and the results show that the SomaScan assay may be useful for analyzing sex differences focusing on gonadotropic hormones.
Risdiplam in Presymptomatic Spinal Muscular Atrophy
Correlations between human alveolar macrophage particulate matter load, air pollution particulate matter levels, and systemic inflammation markers in Mexico City
Lorundrostat Efficacy and Safety in Uncontrolled Hypertension
Formulating sustainable planning for Goulan Yao Village based on the integration of cultural landscape gene theory and spatial analysis
Abstract Traditional village cultural landscapes, as vital carriers of human civilization, face severe threats amid rapid urbanization. This study centers on Goulan Yao Village in Jiangyong County, China, applying cultural landscape gene theory combined with GIS spatial analysis. A gene information chain map and a village-specific classification and coding system were established to analyze spatial distribution and organizational patterns. Results show that the village reflects a rich cultural connotation shaped by the natural environment, religious beliefs, and ethnic customs. Its landscape gene distribution exhibits a “three-core, multi-node” pattern with dense clustering and mismatches between spatial accessibility and concentration. Based on these insights, a sustainable planning framework of “connotation preservation–spatial optimization–cultural tourism innovation” is proposed. This framework aims to offer both theoretical support and practical guidance for cultural landscape conservation and rural revitalization of Yao ethnic villages. The study not only extends the application of cultural landscape gene theory to ethnic minority settlements but also provides a methodological reference for the sustainable development of similar traditional settlements worldwide.
Progress Lost — The Unraveling of Medicaid and the Affordable Care Act
Mapping demographic variations in sense of mastery across the world a cross-national analysis of 22 countries in the global flourishing study
Managing Obesity
Scan-rescan reliability assessment of brain volumetric analysis across scanners and software solutions
Abstract Automated brain volumetry shows promise in improving the screening and monitoring of neurodegenerative diseases. However, the reliability of measurements across different scanners and software remains uncertain. This study assessed the reliability of gray matter, white matter, and total brain volume measurements from seven volumetry tools, using six scanners across two scanning sessions, performed within 2 h the same day, in twelve subjects. Generalised estimating equations models showed significant effects of both software and scanner on all measurements with stronger effect of software (p < 0.001). Percentage of coefficient of variation (CV) was calculated to measure scan-rescan reliability. Median CV across scanners of AssemblyNet and AIRAscore was less than 0.2% for grey and white matter, and 0.09% for total brain volume; while FreeSurfer, FastSurfer, syngo.via, SPM12, and Vol2Brain had a CV greater than 0.2%. In Bland-Altman analysis there was no systematic difference, but limits of agreement differed greatly between methods. Based on these findings, we recommend using the same scanner and software combination across sessions to ensure that observed changes in brain volume are reliable and clinically valuable.
Metabolic Dysfunction–Associated Steatotic Liver Disease
Numerical study on optimal geometric parameters of lining structures for roadway support using the artificial bee colony algorithm
Sexual harassment is rife at US Antarctic research bases, fresh survey finds
Enhanced water saturation estimation in hydrocarbon reservoirs using machine learning
Abstract Accurate estimation of water saturation (Sw) is essential for optimizing oil recovery strategies and is a key component in petrophysical analyses of hydrocarbon reservoirs. Traditional Sw estimation approaches often face limitations due to idealized assumptions, dependency on core-derived parameters, and geological heterogeneity. In this study, a comprehensive dataset consisting of 30,660 independent data points was utilized to develop machine learning (ML) models for Sw prediction. Nine well log parameters—Depth (DEPT), High-Temperature Neutron Porosity, True Resistivity, Computed Gamma Ray, Spectral Gamma Ray, Hole Caliper, Compressional Sonic Travel Time, Bulk Density, and Temperature—were used as input features to train and test five ML algorithms: Linear Regression, Support Vector Machine (SVM), Random Forest, Least Squares Boosting, and Bayesian methods. To improve model performance, a Gaussian outlier removal technique was applied to eliminate anomalous data points. The models were rigorously validated using multiple training/testing data splits and ten independent runs to ensure statistical reliability. Among the tested models, SVM achieved the highest accuracy, with R2 values of 0.9952 (test) and 0.9962 (train) and RMSE values of 0.002 (test) and 0.001 (train). These results demonstrate that ML—particularly SVM—offers a robust and accurate alternative for Sw estimation, supporting more effective reservoir evaluation and oil recovery optimization.
A global humidity index with lateral hydrologic flows
Highly uniform thermally undercut silicon photonic devices in a 300 mm CMOS foundry process
The impact of occupational nonhypoxic hypobaria on cerebral function and integrity
Three bilberry bHLHs of subgroup IIIf play divergent roles in fruit anthocyanin and flavonoid biosynthesis
Abstract Bilberry ( Vaccinium myrtillus L.) fruit are one of the best natural sources of anthocyanins. Anthocyanin and flavonoid biosynthesis are transcriptionally regulated by the conserved MBW complex, including R2R3 MYB, basic helix-loop-helix (bHLH) and WD40 proteins. In this study, homology-search in the bilberry genome identified three putative anthocyanin biosynthesis-regulating bHLH genes, all containing a MYB binding domain, indicating their possible interaction with R2R3 MYBs. Phylogenetic analysis assigned the VmbHLHs to three different clusters within the IIIf subgroup of bHLHs. The expression of VmbHLH2 elevated at berry ripening, while VmbHLH1 and VmbHLH3 showed decreasing expression towards berry maturation. When transiently overexpressed together with MdMYB10 in Nicotiana benthamiana leaves, VmbHLH2 and VmbHLH3 were able to complement MdbHLH3 and upregulate a full set of anthocyanin biosynthetic genes leading to anthocyanin accumulation. In contrast, VmbHLH1 induced a reduced set of flavonoid pathway genes. Our results provide the first functional characterization of flavonoid-regulating bHLHs that contribute to the MBW complex in the economically important genus Vaccinium. We propose that the TT8-type VmbHLH2 is involved in anthocyanin biosynthesis in ripening bilberry fruit, while the MYC1-type VmbHLH1 and GL3/EGL3-type VmbHLH3 are associated with anthocyanin and PA biosynthesis, mainly in tissues other than berries.
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis
Abstract Variant transthyretin (ATTRv) amyloidosis is a rare, inherited disorder caused by mutations in the TTR gene, leading to amyloid fibril deposition. The Balearic Islands are a known endemic focus for the NP_000362.1:p.Val50Met (V30M) variant, one of the most prevalent pathogenic mutations. We analysed 23 years of genetic testing data from the Balearic Islands’ public health system to determine the prevalence and distribution of ATTR pathogenic variants, with a focus on V30M. A total of 1,478 individuals underwent genetic testing, with 319 positive tests for ATTRv: 308 carried the V30M variant (96.4%) and 11 carried other pathogenic variants. The V30M prevalence was highest in Mallorca and Menorca (1 in 2,900 and 4,700, respectively), with lower rates in Ibiza and Formentera. The co-occurrence of V30M and NP_000362.1:p.Gly26Ser (G6S) on the same chromosome in 93% of V30M carriers suggests a common origin. This study becomes the first registry of ATTRv in the Balearic Islands, aiming to raise awareness among clinicians across all areas and services while enabling more accurate diagnostics, informed genetic counselling, and targeted clinical follow-ups. We also postulate the Balearic Islands as a major global focus for the V30M variant, with a distinct genetic profile suggesting a unique founder effect within the region.