Tag: nevin manimala

Sci Rep. 2025 Jul 2;15(1):23622. doi: 10.1038/s41598-025-06714-2.

ABSTRACT

To investigate the genetic etiology of ventriculomegaly (VM) in fetuses by analyzing chromosomal aberrations and genetic variations through high-throughput sequencing. Clinical data and samples (amniotic fluid or miscarriage tissue) were collected from fetuses with ventricular width >10 mm, diagnosed at Shanxi Children’s Hospital between 2020 and 2023. All samples underwent copy number variation sequencing (CNV-seq), and those with negative CNV-seq result were further analyzed by whole exome sequencing (WES) to identify single-gene variants. Chromosomal abnormalities and monogenic variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analysis was performed using SPSS 26.0, and pregnancy outcomes were tracked. Among 73 VM fetuses, 23 (31.5%) cases exhibited chromosomal aberrations via CNV-seq, including 4 aneuploidies, 12 pathogenic CNVs, 2 likely pathogenic CNVs, and 8 variants of unknown significance. The incidence of chromosomal abnormalities was significantly higher in non-isolated VM fetuses compared to isolated VM (p < 0.05). WES analysis of 33 CNV-negative cases identified single-gene defects in 16 (48.5%) fetuses, including SPATA5, PDHA1, TRIM71, PIK3R2, TUBB, CRB2, PIDD1, RTTN, FGFR3, AIMP1, POGZ, MYH7, CNOT3, MACF1, and PURA gene, with 10 novel variants reported. Fetal VM is associated with heterogeneous neurodevelopmental outcomes, and genetic etiology plays an important role in its pathogenesis. WES enhances the efficiency of diagnosis, particularly for VM fetuses without detectable aneuploidy or CNVs. Identifying the genetic etiology of fetal VM is is crucial for informing birth defect prevention strategies and improving the overall health of the newborn population.

PMID:40603987 | DOI:10.1038/s41598-025-06714-2

Sci Rep. 2025 Jul 2;15(1):23645. doi: 10.1038/s41598-025-00176-2.

ABSTRACT

The association between neutrophil-to-lymphocyte ratio (NLR), an inflammatory marker, and all-cause mortality among individuals with obstructive sleep apnea (OSA) remains unclear. This study aimed to evaluate the association of NLR with all-cause mortality among individuals with OSA. A total of 4,085 participants with OSA were selected from the National Health and Nutrition Examination Survey (NHANES) conducted between 2005 and 2008, with follow-up data collected until December 31, 2019. Weighted Cox regression analyses were used to explore the association between the NLR and all-cause mortality. Nonlinear associations were detected using restricted cubic splines (RCS). Subgroup analyses were further performed to explore these relationships. The mean follow-up time for the entire cohort was 137.7 months. There was a clear trend of increasing mortality risk with higher NLR quartiles, rising from 11.86% in Q1, 13.41% in Q2, 14.81% in Q3, to 29.22% in Q4. The Cox regression analysis revealed that lnNLR was associated with an increased risk of all-cause mortality after full adjustment (hazard ratio [HR] = 1.81, 95% CI 1.43-2.30, p < 0.001). RCS showed a J-shaped relationship between lnNLR with all-cause mortality (p-non-linear < 0.001). The interaction tests found that coronary heart disease (CHD) influenced the association between lnNLR and all-cause mortality, with a HR of 3.98 for those with CHD and 1.62 for those without CHD (p = 0.008). There was a nonlinear correlation between elevated NLR and increased risk of all-cause mortality among OSA individuals. The association was more pronounced among CHD subgroups. Future research should explore the underlying mechanisms and evaluate whether therapies targeting inflammation can lower mortality risk in OSA patients.

PMID:40603961 | DOI:10.1038/s41598-025-00176-2

Sci Rep. 2025 Jul 2;15(1):23363. doi: 10.1038/s41598-025-03173-7.

ABSTRACT

Research on the relationship between socioeconomic status (SES), the prevalence of disability, and the use of healthcare services by people with disabilities is limited. The aim of this study is to identify socioeconomic predictors of disability and examine the utilization of healthcare services among people with disabilities in Bangladesh. We used the first national representative, the National Household Survey on Persons with Disabilities (NSPD) 2021 survey data. The data utilized in our analysis came from 100,859 people who were at least 18 years old. Standard of living (henceforth referred to as wealth) was our proxy indicator of SES. The variables of interest for the outcome were the respondents’ disability status and frequency of use of healthcare services. Adjusted odds ratio, relative, and slope inequality index are three regression-based techniques we utilized to evaluate different aspects of SES disparities in use of healthcare services and disability status. The prevalence of disability of our study sample was 3.40% and about 74.06% of people with disabilities have used healthcare services in the past three months. When compared to people in the poor SES group, people in the rich and middle SES group had 0.69 (95% CI 0.60-0.78) and 0.80 (95% CI 0.78-0.95) times lower chance of developing disability. When compared to individuals in the poor SES group, those in the rich and middle SES groups were 2.12 times (95% CI 1.55-2.89) and 1.39 times (95% CI 1.12-1.72) more likely to use of healthcare services. SES should be a key consideration in designing public health programs aimed at improving healthcare access and reducing disability prevalence in Bangladesh.

PMID:40603941 | DOI:10.1038/s41598-025-03173-7

Sci Rep. 2025 Jul 2;15(1):23182. doi: 10.1038/s41598-025-03188-0.

ABSTRACT

The combined method for interval forecasting (CMIF) is proposed for improved real-time prediction of wind speed uncertainty to facilitate wind turbine operation and power grid dispatching. Time-varying filtering for empirical mode decomposition and phase space reconstruction are used to decompose and reconstruct the original wind speed sequence to solve chaotic phenomena and eliminate noise. Statistical and machine learning models are considered as candidates, and models with excellent performances are selected. Finally, the selected models are combined by a multi-objective optimizer to obtain the final prediction. Experiments were performed using data from the Gansu wind tower, and the results showed that CMIF improved the accuracy of the predicted wind speed interval by 1.07-55.37% compared with single models. The prediction interval had a narrow width while maintaining a high coverage rate, which facilitated accurate quantification of the wind speed uncertainty.

PMID:40603938 | DOI:10.1038/s41598-025-03188-0

Sci Rep. 2025 Jul 2;15(1):23287. doi: 10.1038/s41598-025-04287-8.

ABSTRACT

The space-borne gravitational wave observatory is to detect low-frequency gravitational wave signals in the range of 0.1-100 mHz. The inertial sensors of space gravitational wave require very high accuracy for acceleration noise, and the interaction of the space magnetic field with the test mass can generate magnetic moment forces and Lorentz forces, which lead to acceleration noise. Here, we obtain space magnetic field data from OMNI during 25 years from 1998 to 2022. And accordingly, we calculate the acceleration noise of space magnetic field of a heliocentric gravitational wave observatory, LISA, in more than 2 solar activity cycles. Then, we obtain the amplitude spectral densities of the acceleration noise for each day of the 25 years. We find that the median of the space magnetic field acceleration noise of LISA at 1 mHz is about 1 × 10 – 17 m s – 2 H z – 1 / 2 . We compare the space magnetic field acceleration noise of LISA and a geocentric gravitational wave observatory, TianQin, and find that the acceleration noise of the space magnetic field is of comparable magnitude for TianQin and LISA, and neither of them exceeds the respective acceleration noise requirements. Based on the statistical result of space magnetic field acceleration noise in more than 2 solar cycles, we give the χ – ξ parameters map of the TM for LISA and TianQin, and find that TianQin has a more stringent requirement of the parameters design than that of LISA.

PMID:40603937 | DOI:10.1038/s41598-025-04287-8

Sci Rep. 2025 Jul 2;15(1):23351. doi: 10.1038/s41598-025-06111-9.

ABSTRACT

Motion Capture (MoCap) is rapidly growing in the sports, biomechanics, healthcare, and medicine segments, where accuracy is crucial. Current research studies are concurrently confirming that the accuracy can be determined only for the specific analyzed configuration and thus recommending performing your own accuracy verification on your specific setup. However, it is often hard to perform since it requires significant effort, time, knowledge of statistical data analysis and often equipment and tools that are not commonly available. This paper deals with this by creating a standardized setup with carefully evaluated accuracy, substituting the on-site validation process (in case of using such a setup) or providing the worst-case accuracy (when a more advanced setup is used). The setup is designed to be low-cost, easily reproducible and cover a wide range of applications – thus VICON setup with five VERO v1.3 cameras is used. The accuracy was evaluated using the robotic manipulator EPSON C3, determining that the absolute positioning accuracy of such a standardized setup is 0.65 mm on average (SD = 0.48, with maximal error of 2.47 mm) and rotation accuracy 0.40° (SD = 0.35, with maximal error of 2.0°), which is negligible considering the experimental diameter of 1.4 m and full angular span. The major source of error was specific to particular spatial and rotational positions; other systematic and other random errors were noticeably smaller. If the standardized setup is used and all its requirements are met, a similar accuracy as validated above can be expected without the need to explicitly validate the specific configuration, which is time-consuming and resource-intensive.

PMID:40603931 | DOI:10.1038/s41598-025-06111-9

Sci Rep. 2025 Jul 2;15(1):23449. doi: 10.1038/s41598-025-05973-3.

ABSTRACT

This in-vitro study sought to characterize a concept for humeral component positioning during Total Elbow Arthroplasty (TEA) with bone defects. One-hundred specimens were analysed focusing a potential side-specific consensus; anatomical and Computed Tomography (CT) agreements; age-, sex- and humeral length-dependent associations. The angle of rotational alignment was defined by measuring the relationship between the flexion-extension axis (FEA) of the elbow joint and the flat posterior surface of the distal humerus (PDH). Three independent observers determined the reliabilities. The intraclass correlation coefficients (ICC), Pearson correlation coefficients (r), t-tests (r, p), and levels of 95% confidence interval were computed. P-values (p) were set with 0.05. An average internal rotation angle of the FEA to the PDH from 13.0° (range 6.4-27.1) was specified. Anatomical and CT measurements exposed strong agreements (r = .923, p < .001) and excellent observer agreements (ICCs > 0.900). A contralateral side consensus (r = .906, p < .001) and a statistically significant sex difference (at mean: female: 15.1° versus male: 11.5°; p < .001) was verified. No age- and humeral length-dependent correlations were observed (r < .300). Knowledge of these anatomical landmarks and their spatial relationships can provide an essential reference for surgeons striving to replicate native joint alignment. Additionally, assessment of the contralateral (uninjured) side via CT imaging may offer a valuable template and should be considered in the management of complex TEA cases.

PMID:40603927 | DOI:10.1038/s41598-025-05973-3

Sci Rep. 2025 Jul 2;15(1):23362. doi: 10.1038/s41598-025-05903-3.

ABSTRACT

Trimethylamine-N-oxide (TMAO) is a gut microbiome-derived metabolite of choline, L-carnitine and lecithin, abundant in animal source foods. In experimental models, higher blood TMAO levels enhance atherosclerotic cardiovascular disease (ASCVD). However in humans, most prior studies have evaluated high risk or secondary prevention populations, and no studies have investigated relationships in a diverse, multi-ethnic population. We evaluated 6,767 US adults free of ASCVD at baseline in the community-based Multi-Ethnic Study of Atherosclerosis (MESA), including 38% identifying as White; 28%, as Black; 22%, as Hispanic; and 12%, as Chinese adults. Plasma TMAO was measured serially at baseline and 5-years, and its time-varying association with incident ASCVD determined using Cox proportional hazards. Multivariate analyses adjusted for time-varying demographics, lifestyle factors, medical history, lipid measures, antibiotic use and dietary habits. During median 11.3 years follow-up, 852 ASCVD events occurred. After multivariate adjustment, TMAO associated with higher risk of ASCVD in a dose-dependent fashion, with hazard ratios across quintiles of 1.02, 1.17, 1.23, and 1.33 (95% CI 1.02, 1.74), respectively, compared to the lowest quintile (P-trend = 0.01). Risk appeared possibly larger among Hispanic and Chinese adults; and among individuals with lower baseline renal function; although these interactions did not achieve statistical significance. Plasma concentrations of TMAO associated with higher risk of incident ASCVD in this multi-ethnic US cohort, supporting a need to test dietary and pharmacologic interventions targeting the diet-microbiome axis for potential cardiovascular risk prevention in diverse populations.

PMID:40603925 | DOI:10.1038/s41598-025-05903-3

Sci Rep. 2025 Jul 2;15(1):23332. doi: 10.1038/s41598-025-00503-7.

ABSTRACT

In this paper, we investigate the newly formulated (3+1)-dimensional Sakovich equation, highlighting its utility in describing the dynamics of nonlinear waves. This novel equation effectively incorporates increased dispersion and nonlinear effects, thereby enhancing its applicability across various physical scenarios. This model especially useful when modeling nonlinear phenomena in materials that simpler linear models would not accurately describe. Also serve as a founding model for numerical simulations in computational fluid dynamics and solid mechanics. We deploy both the Sardar Sub-Equation Method (SSEM) and the Simple Equation Method (SEM) to derive a broad spectrum of unique traveling wave solutions. These solutions have been thoroughly verified with Mathematica and include a wide variety of mathematical functions such as trigonometric hyperbolic and exponential forms. To provide a comprehensive visual representation of these solutions, we generate 3D, contour, density, and 2D graphs by meticulously setting the relevant parameters in Wolfram Mathematica. The solutions obtained illustrate various phenomena, such as dark, bright, kink, singular, periodic, periodic singular, and compacton solitons. The innovation of this work is in the systematic investigation and description of several types of soliton solution over a wide variety of nonlinear equations. Not only does this thorough study advance theoretical insight but also increase practical applications in areas like optical fiber communication and engineering. Additionally, we investigate the modulation instability (MI) of the proposed model, further elucidating its significance in the context of nonlinear wave propagation.

PMID:40603918 | DOI:10.1038/s41598-025-00503-7

Sci Rep. 2025 Jul 2;15(1):23317. doi: 10.1038/s41598-025-03438-1.

ABSTRACT

The need for alternative MR contrast agents in direct shoulder MR arthrography (MRA) arises from limitations associated with gadolinium-based contrast agents (GBCAs), which are deemed “off-label” for MRA and raise concerns about potential toxicity to joint tissue. This study aims to compare the image quality of NEMO-103 (codename)-based and GBCA-based direct shoulder MRA. A total of 89 MRAs from 81 patients were analyzed, with 39 NEMO-103-based MRAs from 31 patients and 50 GBCA-based MRAs from 50 patients. The MRAs were performed at 3.0-T using fast/turbo spin-echo T1- and T2-weighted images with or without fat suppression (spectral presaturation with inversion recovery). Participants included individuals undergoing MRA for suspected or diagnosed shoulder pathologies between August 2021 and September 2022. Quantitative assessments (contrast-to-noise ratio [CNR] and distension measurements) and qualitative evaluations (distension, sharpness, contrast, and overall image quality scores) were conducted by three musculoskeletal radiologists. A visual Turing test (VTT) was used to assess the ability of 39 clinicians to differentiate between the two contrast agents. Statistical tests included the Shapiro-Wilk test, independent t-tests, and chi-squared test. The study compared 31 NEMO-103-based MRAs (11 females [35.5%], age: 40.0 ± 13.0 years) and 38 GBCA-based MRAs (14 females [36.8%], age: 49.4 ± 18.7 years) within 30 min post-injection, and 8 NEMO-103-based MRAs (3 females [37.5%], age: 38.0 ± 7.8 years) versus 12 GBCA-based MRAs (5 females [41.7%], age: 56.2 ± 15.7 years) in the 30-60-min post-injection timeframe. NEMO-103-based MRAs demonstrated superior axillary pouch distension and overall image quality in both comparisons. CNR was notably higher with NEMO-103. The VTT showed a 53.3% accuracy in differentiating NEMO-103 from GBCA, similar to random guessing. NEMO-103 may serve as a potential alternative to GBCAs for direct shoulder MRA, offering comparable or superior image quality with potentially fewer concerns related to gadolinium-associated toxicity.

PMID:40603912 | DOI:10.1038/s41598-025-03438-1