Search Results (33)

Neuromuscular hip dysplasia (NHD) is a common deformity in children with cerebral palsy (CP). Although some predictive factors of NHD are known, the prediction of NHD is in its infancy. We present a Clinical Decision Support System (CDSS) designed to calculate the probability of developing NHD in children with CP. The system utilizes an ensemble of three machine learning (ML) algorithms: Neural Network (NN), Support Vector Machine (SVM), and Logistic Regression (LR). The development and evaluation of the CDSS followed the DECIDE-AI guidelines for AI-driven clinical decision support tools. The ensemble was trained on a data series from 182 subjects. Inclusion criteria were age between 12 and 18 years and diagnosis of CP from two specialized units. Clinical and functional data were collected prospectively between 2005 and 2023, and then analyzed in a cross-sectional study. Accuracy and area under the receiver operating characteristic (AUROC) were calculated for each method. Best logistic regression scores highlighted history of previous orthopedic surgery (p = 0.001), poor motor function (p = 0.004), truncal tone disorder (p = 0.008), scoliosis (p = 0.031), number of affected limbs (p = 0.05), and epilepsy (p = 0.05) as predictors of NHD. Both accuracy and AUROC were highest for NN, 83.7% and 0.92, respectively. The novelty of this study lies in the development of an efficient Clinical Decision Support System (CDSS) prototype, specifically designed to predict future outcomes of neuromuscular hip dysplasia (NHD) in patients with cerebral palsy (CP) using clinical data. The proposed system, PredictMed-CDSS, demonstrated strong predictive performance for estimating the probability of NHD development in children with CP, with the highest accuracy achieved using neural networks (NN). PredictMed-CDSS has the potential to assist clinicians in anticipating the need for early interventions and preventive strategies in the management of NHD among CP patients. Full article

Developing and utilizing capture and storage technologies for CO₂ has become a critical research topic due to the significant greenhouse effect caused by excessive CO₂ emissions. A conventional physical absorption process for CO₂ capture is polyethylene glycol dimethyl ether (NHD); however, its limited application range is caused by its poor absorption of CO₂ at low pressures. In this work, the CO₂ absorption of NHD was enhanced by combining NHD with a novel chemical absorbent 2-methylimidazole (2-mIm)-ethylene glycol (EG) solution to improve CO₂ absorption. Viscosity and CO₂ solubility were examined in various compositions. The CO₂ solubility in the mixed solution was found to be at maximum when the mass fractions of NHD, 2-mIm, and EG were 20%, 40%, and 40%, respectively. In comparison to pure NHD, the solubility of CO₂ in this mixed solution at 30 °C and 0.5 MPa increased by 161.2%, and the desorption heat was less than 30 kJ/mol. The complex solution exhibits high selectivity and favorable regeneration performance in the short term. However, it is more sensitive to moisture content. The results of this study can provide important data to support the construction of new low-energy solvent systems and the development of novel CO₂ capture processes. Full article

TREM2 (triggering receptor expressed on myeloid cells 2) is a membrane-bound receptor primarily expressed on microglia in the central nervous system (CNS). TREM2 plays a crucial role in regulating immune responses, phagocytosis, lipid metabolism, and inflammation. Mutations in the TREM2 gene have been linked to various neurodegenerative diseases, including Alzheimer’s disease (AD), frontotemporal dementia (FTD), Parkinson’s disease (PD), and Nasu–Hakola disease (NHD). These mutations are suggested to impair microglial activation and reduce the ability to clear amyloid aggregates, leading to exacerbated neuroinflammatory responses and accelerating disease progression. This review provides an overview of TREM2 structure, functions, and known pathogenic variants—including Arg47His, Arg62His, His157Tyr, Tyr38Cys, and Thr66Met. Furthermore, the molecular and cellular consequences of TREM2 mutations are introduced, such as impaired ligand binding, altered protein folding and trafficking, enhanced TREM2 shedding, and dysregulated inflammatory signaling. We also highlight recent advances in therapeutic strategies aimed at modulating TREM2 signaling. These include monoclonal antibodies (e.g., AL002, CGX101), small molecule agonists, and gene/cell-based therapies that seek to restore microglial homeostasis, enhance phagocytosis, and reduce neuroinflammation. While these approaches show promise in in vivo/in vitro studies, their clinical translation may be challenged by disease heterogeneity and mutation-specific responses. Additionally, determining the appropriate timing and precise dosing will be essential. Full article

Natural gas–diesel dual-fuel (NDDF) engines can reduce harmful emissions while maintaining diesel-like efficiency. However, under low-load conditions, they suffer from high methane (CH₄) emissions, reduced combustion stability, and lower thermal efficiency. To address and improve these issues, this study numerically investigates the effects of the injection pressure (32, 50, 90, and 126 MPa) and nozzle hole diameter (NHD, 110–230 μm) on dual-fuel combustion. A total of 25%, 50%, and 75% natural gas energy fraction (NGEF) conditions are simulated for dual-fuel cases, and fully diesel-fueled conditions are also studied. The results at 50% and 75% NGEF indicate that increasing the injection pressure significantly improves thermal efficiency while reducing CH₄ and soot emissions. Furthermore, at 75% NGEF, NHD reduction from 230 to 150 μm provides more stable combustion rates, higher thermal efficiency, and lower CH₄ emissions. At 75% NGEF, the combination of 126 MPa of injection pressure and 150 μm of NHD reduces CH₄ emissions by 77% and increases thermal efficiency by 9.8% compared to the baseline case (32 MPa and 230 μm). This study demonstrates that optimal combinations of injection pressure and NHD can significantly improve low-load issues in NDDF engines. Full article

This study investigates land-cover changes along riparian zones in South Carolina, focusing on intermittent and perennial streams to assess the impact of urbanization, forest loss, and impervious surface expansion on sensitive ecosystems. South Carolina’s diverse geography, ranging from coastal marshes to the Blue Ridge Mountains, and subtropical humid climate, offers a rich context for understanding environmental changes. The research utilizes various geospatial datasets, including the National Land Cover Database (NLCD), National Hydrography Dataset (NHD), and National Agricultural Imagery Program (NAIP) imagery, to evaluate changes in forest cover, urbanization, and impervious surfaces from 2011 to 2021 as a decade of transition. The study areas were divided into buffer zones around intermittent and perennial streams, following South Carolina’s riparian management guidelines. The results indicate significant land-cover transitions, including a total of 3184.56 hectares of non-urban areas converting to forest within the 100 m buffer around intermittent streams. In contrast, 137.43 hectares of forest transitioned to urban land in the same buffer zones, with Spartanburg and Greenville leading the change. Intermittent stream buffers exhibited higher imperviousness (4.6–5.5%) compared to perennial stream buffers (3.3–4.5%), highlighting the increased urban pressure on these sensitive areas. Furthermore, tree canopy loss was significant, with counties such as Greenwood and Chesterfield experiencing substantial reductions in canopy cover. The use of high-resolution NAIP imagery validated the land-cover classifications, ensuring accuracy in the results. The findings emphasize the need for effective land-use management, particularly in the riparian zones, to mitigate the adverse impacts of urban expansion and to safeguard water quality and biodiversity in South Carolina’s streams. Full article

The bile acid sodium symporter (BASS) family plays an important role in transporting substances and coordinating plants’ salt tolerance. However, the function of BASS in Brassica rapa has not yet been elucidated. In this study, eight BrBASS genes distributed on five chromosomes were identified that belonged to four subfamilies. Expression profile analysis showed that BrBASS7 was highly expressed in roots, whereas BrBASS4 was highly expressed in flowers. The promoter element analysis also identified several typical homeopathic elements involved in abiotic stress tolerance and stress-related hormonal responses. Notably, under salt stress, the expression of BrBASS2 was significantly upregulated; under osmotic stress, that of BrBASS4 increased and then decreased; and under cold stress, that of BrBASS7 generally declined. The protein–protein interaction analysis revealed that the BrBASS2 homologous gene AtBASS2 interacted with Nhd1 (N-mediated heading date-1) to alleviate salt stress in plants, while the BrBASS4 homologous gene AtBASS3 interacted with BLOS1 (biogenesis of lysosome-related organelles complex 1 subunit 1) via co-regulation with SNX1 (sorting nexin 1) to mitigate an unfavorable growing environment for roots. Further, Bra-miR396 (Bra-microRNA396) targeting BrBASS4 and BrBASS7 played a role in the plant response to osmotic and cold stress conditions, respectively. This research demonstrates that BrBASS2, BrBASS4, and BrBASS7 harbor great potential for regulating abiotic stresses. The findings will help advance the study of the functions of the BrBASS gene family. Full article

Pygopus (Pygo) has been identified as a specific nuclear co-activator of the canonical Wingless (Wg)/Wnt signaling pathway in Drosophila melanogaster. Pygo proteins consist of two conserved domains: an N-terminal homologous domain (NHD) and a C-terminal plant homologous domain (PHD). The PHD’s ability to bind to di- and trimethylated lysine 4 of histone H3 (H3K4me2/3) appears to be independent of Wnt signaling. There is ongoing debate regarding the significance of Pygo’s histone-binding capacity. Drosophila Pygo orthologs have a tryptophan (W) > phenylalanine (F) substitution in their histone pocket-divider compared to vertebrates, leading to reduced histone affinity. In this research, we utilized CRISPR/Cas9 technology to introduce the Pygo-F773W point mutation in Drosophila, successfully establishing a viable homozygous Pygo mutant line for the first time. Adult mutant flies displayed noticeable abnormalities in reproduction, locomotion, heart function, and lifespan. RNA-seq and cluster analysis indicated that the mutation primarily affected pathways related to immunity, metabolism, and posttranslational modification in adult flies rather than the Wnt signaling pathway. Additionally, a reduction in H3K9 acetylation levels during the embryonic stage was observed in the mutant strains. These findings support the notion that Pygo plays a wider role in chromatin remodeling, with its involvement in Wnt signaling representing only a specific aspect of its chromatin-related functions. Full article

Low- (or mild-) gain hearing aids (LGHAs) are increasingly considered for individuals with normal peripheral hearing but significant self-reported hearing difficulties (SHDs). This study assesses the benefits of LGHAs as a management option for individuals with normal hearing thresholds (NHTs) and SHDs, comparing LGHA use and benefit to individuals with non-significant hearing difficulties (NHDs) and those with peripheral hearing loss. Questionnaires addressing hearing aid usage, benefit, hearing difficulties, and tinnitus were administered to 186 individuals who self-identified as hearing aid users in a sample of 6652 service members who were receiving their annual hearing tests. Participants were divided into SHD and NHD groups based on the normative cutoff of the Tinnitus and Hearing Survey-Hearing Subscale (THS-H), and into hearing impairment (HI) and NHT based on their audiometric air-conduction thresholds. Individuals with SHDs and NHTs reported higher LGHA usage and benefit than individuals with NHDs and NHTs. Comparable use and benefit were noted between groups with SHDs regardless of peripheral hearing loss status. The findings support LGHAs as a suitable management option for individuals with NHTs and SHDs, as indicated by hearing aid use and benefit. Quantifying the level of perceived auditory processing deficits (i.e., SHDs), notably with the THS-H, enhances sensitivity in identifying those who may benefit the most from this treatment option. Full article

Accounting for 5–20% of the total glial cells present in the adult brain, microglia are involved in several functions: maintenance of the neural environment, response to injury and repair, immunesurveillance, cytokine secretion, regulation of phagocytosis, synaptic pruning, and sculpting postnatal neural circuits. Microglia contribute to some neurodevelopmental disorders, such as Nasu–Hakola disease (NHD), Tourette syndrome (TS), autism spectrum disorder (ASD), and schizophrenia. Moreover, microglial involvement in neurodegenerative diseases, such as Alzheimer’s (AD) and Parkinson’s (PD) diseases, has also been well established. During the last two decades, epidemiological and research studies have demonstrated the involvement of vitamin D3 (VD3) in the brain’s pathophysiology. VD3 is a fat-soluble metabolite that is required for the proper regulation of many of the body’s systems, as well as for normal human growth and development, and shows neurotrophic and neuroprotective actions and influences on neurotransmission and synaptic plasticity, playing a role in various neurological diseases. In order to better understand the exact mechanisms behind the diverse actions of VD3 in the brain, a large number of studies have been performed on isolated cells or tissues of the central nervous system (CNS). Here, we discuss the involvement of VD3 and microglia on neurodegeneration- and aging-related diseases. Full article

End-stage kidney disease patients treated with conventional hemodialysis (CHD) are known to have impaired physical performance and protein-energy wasting (PEW). Nocturnal hemodialysis (NHD) was shown to improve clinical outcomes, but the evidence is limited on physical performance and PEW. We investigate whether NHD improves physical performance and PEW. This prospective, multicenter, non-randomized cohort study compared patients who changed from CHD (2–4 times/week 3–5 h) to NHD (2–3 times/week 7–8 h), with patients who continued CHD. The primary outcome was physical performance at 3, 6 and 12 months, assessed with the short physical performance battery (SPPB). Secondary outcomes were a 6-minute walk test (6MWT), physical activity monitor, handgrip muscle strength, KDQOL-SF physical component score (PCS) and LAPAQ physical activity questionnaire. PEW was assessed with a dietary record, dual-energy X-ray absorptiometry, bioelectrical impedance spectroscopy and subjective global assessment (SGA). Linear mixed models were used to analyze the differences between groups. This study included 33 patients on CHD and 32 who converted to NHD (mean age 55 ± 15.3). No significant difference was found in the SPPB after 1-year of NHD compared to CHD (+0.24, [95% confidence interval −0.51 to 0.99], p = 0.53). Scores of 6MWT, PCS and SGA improved (+54.3 [95%CI 7.78 to 100.8], p = 0.02; +5.61 [−0.51 to 10.7], p = 0.03; +0.71 [0.36 to 1.05], p < 0.001; resp.) in NHD patients, no changes were found in other parameters. We conclude that NHD patients did not experience an improved SPPB score compared to CHD patients; they did obtain an improved walking distance and self-reported PCS as well as SGA after 1-year of NHD, which might be related to the younger age of these patients. Full article

Phase change materials (PCMs) are ideal for thermal management solutions in buildings. This is because they store and release thermal energy during melting and freezing. Spruce (Picea orientalis (L.) Peterm.) sapwood was impregnated with n-heptadecane (100%) as a PCM. The decay-resistance properties and thermal energy storage (TES) characteristics of the n-heptadecane-impregnated wood were studied. The phase change properties of n-heptadecane (nHD)-impregnated wood were characterized by Fourier-transform infrared (FTIR), thermogravimetry (TGA), differential scanning calorimetry (DSC) and X-ray diffraction (XRD) analyses. As confirmed by DSC analysis, nHD-impregnated wood demonstrated moderate performance in storing and releasing heat during the phase change process. Significant increases were observed in the 2800–3000 cm⁻¹ and 1471 cm⁻¹ peaks in FTIR spectra of wood samples impregnated with nHD, which showed C–H stretching in methyl and methylene groups and asymmetric deformation vibration of the paraffin methyl group (CH₃–) and C–O stretch in lignin, respectively. It was observed that there was a change in the crystal structure of spruce wood samples after nHD impregnation. This study revealed that PCMs are resistant to wood-destroying fungi. The performance of nHD-impregnated spruce wood proves that it can be used as a thermal regulating building material to reduce energy consumption. In addition, it has been proven on a laboratory scale that the PCM used is highly resistant to biological attacks. However, large-scale pilot studies are still needed. Full article

The objective of this study was to improve the antibacterial activities of chitosan via N-alkyl substitution using 1-bromohexadecane. Mono and di substitution (Mono-NHD-Ch and Di-NHD-Ch) were prepared and characterized using FT-IR, HNMR, TGA, DSC, and SEM. Elemental analysis shows an increase in the C/N ratio from 5.45 for chitosan to 8.63 for Mono-NHD-Ch and 10.46 for Di-NHD-Ch. The antibacterial properties were evaluated against Escherichia coli, Pseudomonas aeruginosa, Staphylococcus aureus, and Bacillus cereus. In the examined microorganisms, the antibacterial properties of the novel alkyl derivatives increased substantially higher than chitosan. The minimum inhibitory concentration (MIC) of Mono-NHD-Ch and Di-NHD-Ch was perceived at 50 μg/mL against tested microorganisms, except for B. cereus. The MTT test was used to determine the cytotoxicity of the produced materials, which proved their safety to fibroblast cells. The findings suggest that the new N-Alkyl chitosan derivatives might be used as antibacterial alternatives to pure chitosan in wound infection treatments. Full article

Although other co-viral infections could also be considered influencing factors, cervical human papillomavirus (HPV) infection is the main cause of cervical cancer. Metagenomics have been employed in the NGS era to study the microbial community in each habitat. Thus, in this investigation, virome capture sequencing was used to examine the virome composition in the HPV-infected cervix. Based on the amount of HPV present in each sample, the results revealed that the cervical virome of HPV-infected individuals could be split into two categories: HPV-dominated (HD; ≥60%) and non-HPV-dominated (NHD; <60%). Cervical samples contained traces of several human viral species, including the molluscum contagiosum virus (MCV), human herpesvirus 4 (HHV4), torque teno virus (TTV), and influenza A virus. When compared to the HD group, the NHD group had a higher abundance of several viruses. Human viral diversity appears to be influenced by HPV dominance. This is the first proof that the diversity of human viruses in the cervix is impacted by HPV abundance. However, more research is required to determine whether human viral variety and the emergence of cancer are related. Full article

The frequency and intensity of extreme hot events have increased worldwide, particularly over the past couple of decades. Europe has been affected by unprecedented mega heatwaves, namely the events that struck Western Europe in 2003 and Eastern Europe in 2010. The year 2018 was also reported as an unusually hot year, with record-breaking temperatures in many parts of Europe during spring and summer, associated with severe and unusual wildfires and significant crop losses in central and northern Europe. We show the ability of Land Surface Temperature (LST), retrieved from the Spinning Enhanced Visible and Infrared Imager (SEVIRI) onboard Meteosat Second Generation (MSG) to monitor heat extremes, using the 2018 European event as a showcase. The monitoring approach relies on monthly anomalies performed as departures from the median and the monthly number of hot days (NHD), both computed for satellite LST derived from MSG and MODIS, and for 2 m air temperature (T2m) from ERA5 reanalysis, using as threshold the 90th percentiles. Results show strong monthly LST anomalies during the spring and summer of 2018 extending over central and north Europe. Over a vast region in Central and Northern Europe, LST reached the last 15 years high record. Moreover, those outstanding warm LSTs persisted for more than four months. Results obtained using MODIS LST and ERA5 T2m show similar patterns, which, although slightly less intense, corroborate the exceptionality of the heat extremes observed over central and northern Europe during 2018. The spatial pattern of the number of monthly record high anomalies over the MSG observations period clearly depicts the regions in Northern and Central Europe affected by the complex phenomena that occurred in 2018, which resulted from the combined effect of an extreme heatwave in spring and summer with extensive dry conditions. Therefore, the results highlighted the suitability of MSG LST to evaluate and monitor heat extremes alone or combined with dry and bright conditions and prompts the potential of other climate data records from geostationary satellites to characterize these climate extremes that could become the norm in the near future over central and northern Europe. Full article

Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are different terms apparently used to designate the same disease. However, ALSP linked to dominantly inherited mutations in CSF1R (colony stimulating factor receptor 1) cause CSF-1R-related leukoencephalopathy (CRP). Yet, recessive ALSP with ovarian failure linked to AARS2 (alanyl-transfer (t)RNA synthase 2) mutations (LKENP) is a mitochondrial disease and not a primary microglial leukoencephalopathy. Polycystic membranous lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; Nasu–Hakola disease: NHD) is a systemic disease affecting bones, cerebral white matter, selected grey nuclei, and adipose tissue The disease is caused by mutations of one of the two genes TYROBP or TREM2, identified as PLOSL1 and PLOSL2, respectively. TYROBP associates with receptors expressed in NK cells, B and T lymphocytes, dendritic cells, monocytes, macrophages, and microglia. TREM2 encodes the protein TREM2 (triggering receptor expressed on myeloid cells 2), which forms a receptor signalling complex with TYROBP in macrophages and dendritic cells. Rather than pure microglial leukoencephalopathy, NHD can be considered a multisystemic “immunological” disease. Full article