PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

“…Therefore, we recommend adding the ABHD12 gene to diagnostic gene panels for polyneuropathy, cerebellar ataxia, hearing loss, retinal dystrophy, and cataracts. In addition, a full clinical work-up, neurological (with EMG and neuroimaging of the brain) and ophthalmological (with ERG) examination and audiological tests are indispensable to obtain a comprehensive overview of the clinical phenotype as some symptoms in PHARC may be very subtle and easily overlooked if not tested for. …”
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Polyphenols of <i>Perilla frutescens</i> of the family Lamiaceae identified by tandem mass spectrometry by M. P. Razgonova, N. G. Kon’kova, A. M. Zakharenko, K. S. Golokhvast

“…Preliminary results showed the presence of 23 biologically active compounds corresponding to P. frutescens. In addition to the reported metabolites, a number of metabolites were newly annotated in P. frutescens. …”
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

“…According to the results of Sanger sequencing, a cryptic balanced translocation was detected in the proband’s father. Additionally, informative SNPs were identified near the breakpoints for preimplantation genetic testing for structure rearrangement (PGT-SR) treatment by nanopore sequencing. …”
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Associations between environmental glyphosate exposure and glucose homeostasis indices in US general adults: a national population-based cross-sectional study by Xiaobing Feng, Min Wang, Yuji Wang, Ruyi Liang, Chunxiang Yan

“…Obesity modified the association between urinary glyphosate and glucose dyshomeostasis with stronger associations in obese individuals. In addition, elevated ALP significantly mediated the associations of urinary glyphosate with FPG and HbA1c, with mediated proportions of 9.91% and 20.23%, respectively. …”
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Impact of blastocyst biopsy for preimplantation genetic testing on maternal and neonatal outcomes following single frozen embryo transfer cycles by Tingting He, Wenhao Shi, Xia Xue, Juanzi Shi

“…Additionally, various relevant perinatal outcomes related to both maternal and neonatal health were also evaluated. …”
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Magnetic-responsive triple shape memory polymer from bio-based benzoxazine/urethane polymer alloys with iron oxide nanoparticles by Kullanard Ruenpanya, Phattarin Mora, Panagiotis Karagiannidis, Kittipon Bunyanuwat, Sarawut Rimdusit

“…It was found that the addition of Fe3O4 NPs can enhance the dynamic mechanical properties and magnetic characteristics of the V-fa/PU polymer alloys thanks to the superparamagnetic property of Fe3O4 NPs. …”
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PHYSICS-DRIVEN FEATURE CREATION TO IMPROVE MACHINE LEARNING MODELS PERFORMANCE FOR OIL PRODUCTION RATE PREDICTION by Eghbal Motaei, Seyed Mehdi Tabatabai, Tarek Ganat, Ahmad Khanifar, Sulaiman Dzaiy, Timur Chis

“…The Random Forest and linear regression models outperformed the others, particularly when built based on physics-driven features. Additionally, models based on physics-driven features exhibited less sensitivity to data splits for learning and testing, proving more reliable with better performance metrics compared to those using original features.…”
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Effect of family support and work resources in the relationship of economic constraints and work volition: Evidence from China. by Lu Hai, Yang Wang, Man Shu, Mengxiao Zhang, Yijiao Wang

“…SPSS 21.0 and AMOS 24.0 were used to conducted a comprehensive analysis of the collected data, and investigate the relationships among latent variables and assess the goodness of fit of the observed indicators on their associated latent constructs. Additionally, we evaluated all the hypothesized direct and indirect effects.…”
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Awareness of cardiovascular disease risk and care received among Australian women with a history of hypertensive disorders of pregnancy: a cross-sectional survey by Kaylee Slater, Rachael Taylor, Clare E. Collins, Melinda Hutchesson

“…Most women felt supported in managing stress and mental health, but not for managing body weight, smoking and sleep. Conclusions Women with a history of HDP are unaware of their increased CVD risk and are not receiving recommended CVD preventative care, irrespective of HDP type and/or SES. …”
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Non-invasive blood glucose monitoring using PPG signals with various deep learning models and implementation using TinyML by Mahdi Zeynali, Khalil Alipour, Bahram Tarvirdizadeh, Mohammad Ghamari

“…We also extend our testing to additional datasets to assess the robustness of our models against unseen distributions, thereby providing a comprehensive evaluation of the models’ generalizability and specificity and accuracy. …”
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Advanced KNN-based cost-efficient algorithm for precision localization and energy optimization in dynamic underwater sensor networks by Nadia Shamshad, Lei Wang, Kiran Saleem, Danish Sarwr, Salil Bharany, Ahmad Almogren, Jaeyoung Choi, Ateeq Ur Rehman, Ayman Altameem

“…Results demonstrate notable improvements in localization accuracy by optimizing the localization error rate from 4.59m to $$3.88 \times 10^{-8}$$ m, Reducing localization energy consumption rate 0.0045J in addition for the first time we have also computed the localization Time cost rate which is 0.06762s. we assumed that in real-time and in NS-3 simulations on the Aqua-sim model indicate communication speed at 1500m/s. …”
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Dyslipidaemia in patients with chronic kidney disease – a neglected cardiovascular risk factor by M R Essop, F Seedat, F J Raal

“…Atherosclerotic cardiovascular disease (ASCVD) is a major cause of morbidity and mortality in patients with chronic kidney disease (CKD). In addition, CKD itself is a coronary artery disease equivalent due to its atherogenic potential. …”
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Dendrobium officinale flowers flavonoids enriched extract protects against acute ethanol-induced gastric ulcers via AMPK/PI3K signaling pathways by Zhiyu Zhang, Hualing Xie, Mohamed A. Farag, Zhenhao Li, Qingping Wu, Ping Shao

“…The result of sodium nitrite-aluminum nitrate colorimetry showed that 52.34% of the total extractive was flavonoid, and ultra-high performance liquid chromatography time of flight mass spectrometer (UPLC-Q-TOF/MS) revealed the presence of 28 components in DOFF of which 14 belonged to flavonoids. In addition, in vivo assay revealed DOFF potential in reducing the formation of ethanol-induced gastric mucosal lesions, with drop-in ulcer index from 64.33 ± 8.76 to 32.00 ± 4.47. …”
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Structural analysis of the impact of learning from errors and organizational failures on innovative performance with the mediation role of knowledge absorptive capacity (case study... by Sara Mohammadi, Farajallah Rahimi, Eslam Fakher, Ilnaz Irani Behbahani

“…In other words, employees' absorptive capacity plays a facilitating and mediating role in the relationship between learning from organizational errors and innovative performance in the organization. Additionally, the results confirmed the positive and significant impact of learning from organizational errors on absorptive capacity, and absorptive capacity on innovative performance.Originality/Value: The positive impact of learning from errors on innovative performance, both directly and through absorptive capacity, showed that the company can further enhance its performance by improving absorptive capacity and gaining experience from the errors that occur within the company.…”
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Cell-free expression and SMA copolymer encapsulation of a functional receptor tyrosine kinase disease variant, FGFR3-TACC3 by Alexander J. D. Snow, Tharushi Wijesiriwardena, Benjamin J. Lane, Brendan Farrell, Polly C. Dowdle, Matilda Katan, Stephen P. Muench, Alexander L. Breeze

“…The inherent enzymatic activity of receptor tyrosine kinases (RTKs) presents additional challenges. Oncogenic fusions of RTKs with heterologous partners represent a particularly difficult-to-express protein subtype due to their high flexibility, aggregation propensity and the lack of a known method for extraction within the native lipid environment. …”
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Study on Damage Evolution of Tunnel Lining under Strike-Slip Fault Movements by Jiaxuan Du, Songhong Yan, Weiyu Sun, Mingxing Cao, Yuxiang Li, Kang Yang

“…Besides, the maximum plastic strain and compressive damage are distributed in the vault and invert. In addition, with the increase of the fault displacement, the axial strain of the secondary lining increases as well, of which the main part shows the tensile strain. …”
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Development of Chitosan-Polyacrylic Acid Complex Systems for Enhanced Oral Delivery of Lactobacillus Gasseri and Bifidobacterium Bifidum Probiotics by AL-Fawares O, Alshweiat A, Abuawad A

“…The Loaded L, B, and L+B showed higher particle size than the unloaded particles and excellent viability in simulated gastric and intestinal fluids, where the free probiotic species were undetected. Additionally the loaded probiotic exhibited an anti-biofilm effect at 0.5 mg/mL concentration level.Conclusion: The CS-PAA complexes demonstrate a promising mechanism for the effective delivery of incorporated probiotics. …”
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6-hydroxygenistein attenuates hypoxia-induced injury via activating Nrf2/HO-1 signaling pathway in PC12 cells by Pengpeng Zhang, Jie Zhang, Chuan Ma, Huiping Ma, Linlin Jing

“…Cellular experiments suggested that 6-OHG treatment mitigated cell damage, enhanced cell viability, reduced ROS production and MDA level, increased SOD and CAT activities and elevated GSH level in PC12 cell exposed to hypoxia. Additionally, 6-OHG treatment reduced the TNF-α and IL-6 levels and elevated the IL-10 content, while downregulated the NF-κB and TNF-α expressions. 6-OHG also inhibited the caspase-3 and − 9 activation and the Bax and cleaved caspase-3 expressions, and elevated the Bcl-2 expression. …”
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CDPMF-DDA: contrastive deep probabilistic matrix factorization for drug-disease association prediction by Xianfang Tang, Yawen Hou, Yajie Meng, Zhaojing Wang, Changcheng Lu, Juan Lv, Xinrong Hu, Junlin Xu, Jialiang Yang

“…Abstract The process of new drug development is complex, whereas drug-disease association (DDA) prediction aims to identify new therapeutic uses for existing medications. …”
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Therapeutic effects of chlorogenic acid on allergic rhinitis through TLR4/MAPK/NF-κB pathway modulation by Xiaoyan Xu, Lei Wang, Guangyao Wu, Xixia Li

“…Expression and phosphorylation levels of the MAPK/NF-κB pathway were evaluated using qPCR and western blotting. Additionally, ovalbumin (OVA)-induced AR mice received different doses of CGA, and Toll-like receptor-4 (Tlr4) overexpression was induced. …”
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