Scientific Reports最新文献

Intellectual disability (ID) is a neurodevelopmental disorder, characterized by congenital cognitive and adaptive behavioral issues. We studied multiple patients with ID born to consanguineous parents. Exome sequencing was completed for selected patients and the data were filtered using an allele frequency of less than 0.01. All exonic and splice-site variants were considered. Segregation analyses were performed using allele-specific PCR and Sanger sequencing. Expression analyses of candidate genes were determined after cDNA synthesis from the mouse brain. Clinical evaluations revealed that the patients in the four families exhibited different degrees of cognitive impairments. Patients in two families had no other phenotypes while those from the other two families also manifested disorders such as epilepsy. In family PKID01, a known homozygous missense variant of UFSP2 was found to segregate with the phenotype. We also identified four biallelic novel variants including missense, frameshift, and nonsense variants in ATP13A2, QPCTL, WDR62 and FMO4 in the affected patients from three families. Among these, the QPCTL variant pinpoints a new candidate gene for ID. This study expands the genetic etiology of ID. Intrafamilial genetic heterogeneity underscored the difficulties of molecular characterization of ID in even small nuclear consanguineous families. This research yielded only the second family in literature with a homozygous FMO4 variant, strengthening its candidature with ID.

The goal of this study was to create a low-cost, simultaneous, and sensitive electrochemical sensor for detecting the imipenem and meropenem. In order to determine them simultaneously, the first electrochemical sensor was created by combining a glassy carbon electrode (GCE) with a nanocomposite made of platinum-gold bimetallic nanoparticle-decorated three-dimensional graphene oxide (Pt-Au Bm-NPs/3D GO). Electrochemical impedance spectroscopy (EIS) and cyclic voltammetry (CV) were used to evaluate the surface of Pt-Au Bm-NPs/3D GO/GCE. imipenem's electrochemical signals increased as a result of the improvement of many sensitivity-affecting factors, including pH, electrode composition, and scan rate. The analysis of the CV data revealed that imipenem's and meropenem's redox were completely irreversible reactions. Chronoamperometry was utilized to ascertain the imipenem's and meropenem's diffusion coefficients (1.25 ± 0.02 × 10^- 5 cm²s^- 1 and 5.24 ± 0.02 × 10^- 5 cm²s^- 1, respectively). The imipenem and meropenem linear dynamic ranges were 0.001-800.0 µM with detection limits of 0.18 nM and 0.14 nM, respectively. Additionally, for the electrochemical oxidation of imipenem and meropenem, the DPV findings revealed two well-resolved anodic waves with a peak separation of around 230 mV, allowing for the simultaneous identification of both chemicals. It is very appropriate for detecting imipenem and meropenem in real samples because to its high sensitivity, low detection limit (nanomolar), remarkable repeatability, and ease of manufacture and renewal of the electrode.

Neurotrophins such as nerve growth factor (NGF) and glial cell line-derived neurotrophic factor (GDNF) are crucial for neuronal maintenance and immune regulation. However, their dynamics during coronavirus disease 2019 (COVID-19) remain unclear. In this prospective study, 30 hospitalized patients with PCR-confirmed COVID-19 were evaluated longitudinally. Serum NGF, GDNF, and conventional inflammatory markers (CRP, ESR, fibrinogen, ferritin, D-dimer, LDH, hematological counts) were measured on Day 1, Day 4, and at discharge. A control group of 37 healthy individuals was included for cross-sectional comparison. Both NGF and GDNF levels were significantly lower in COVID-19 patients at admission compared with healthy individuals. NGF showed a modest early decline from Day 1 to Day 4, followed by partial recovery at discharge, whereas GDNF remained stable throughout hospitalization. Inflammatory markers demonstrated expected clinical trajectories: CRP, ESR, LDH, and fibrinogen decreased during recovery, while WBC, neutrophils, and platelets increased. Ferritin and D-dimer showed no meaningful temporal changes. NGF appears to reflect acute neuroimmune activation in COVID-19 and may serve as a dynamic biomarker of early inflammatory resolution. Conversely, GDNF remained persistently suppressed, suggesting a distinct role in chronic neuroimmune regulation. These findings highlight NGF and GDNF as potential targets for monitoring and modulating neuroimmune responses in COVID-19 and other inflammation-driven conditions.

This study evaluated the effects of a 10-week Daily Mile (DM) intervention on physical fitness and plantar pressure in overweight and obese adolescents from a low-income school in Colombia. A parallel group experimental pilot study was conducted with adolescents aged 11-17 from a Colombian school. Participants were randomly assigned to an intervention group (IG, n = 21) that performed DM three days/week in addition to the usual curriculum, or to a control group (CG, n = 24). Outcomes included anthropometry, blood pressure, muscular fitness, baropodometry, and cardiorespiratory fitness (CRF). A hierarchical multiple linear regression was used to assess the intervention's effect on CRF.No significant differences between groups were observed in anthropometry, blood pressure, muscular fitness, or baropodometry variables. In contrast, CRF significantly improved in the IG, with an average increase of ∼ 150 m in the Shuttle Run Test compared to controls (CG: 517.61 (71.93) vs. IG: 400.00 (182.29) m, p = 0.028). Hierarchical regression confirmed this effect (β = 149.88; CI 95% 55.8-210.0, p = 0.002). In this pilot study, a 10-week DM intervention resulted in short-term improvements in CRF among overweight and obese adolescents from a low-income Colombian school. These findings provide preliminary evidence of the feasibility of implementing DM within the school routine and support its potential to elicit favorable cardiorespiratory adaptations, warranting further investigation in larger and longer-term studies in this context.

One of the primary challenges with ultra-high-performance concrete (UHPC) is its high cement content, typically around 1000 kg/m³, which raises significant environmental concerns. Therefore, reducing cement content while maximizing its efficiency is essential for improving both the sustainability and performance of UHPC. This study focuses on developing an environmentally friendly UHPC mix with a reduced cement content of 700 kg/m³, reinforced with hybrid fibers: steel fiber (S_tF) and polypropylene fiber (PPF). The main objective of this research is to evaluate the effects of these two fiber types on the mechanical properties and durability of UHPC. It also aims to achieve a balance between enhanced strength, crack resistance, and load-bearing capacity under various conditions. Fiber volume percentages ranging from 0%, 0.25%, 0.5%, 0.75%, and 3% were incorporated for both S_tF and PPF, used as single or hybrid fibers. The study assessed several key mechanical and durability properties, including compressive strength, tensile strength, flexural strength, modulus of elasticity, porosity, water absorption, sorptivity, fire resistance, impact resistance, and energy absorption. Additionally, the microstructural properties were analyzed using scanning electron microscopy (SEM). In addition, the life cycle assessment (LCA) of UHPC was evaluated in terms of cost-effectiveness, energy efficiency, and carbon efficiency. Among the tested UHPC blends, despite the relatively low cement content, the mix containing 0.75% S_tF and 0.25% PPF demonstrated superior performance, achieving a compressive strength of 155 MPa, tensile strength of 5 MPa, and flexural strength of 4 MPa, which outperformed the mix containing 3% mono-S_tF. Furthermore, this hybrid fiber combination exhibited up to a 47% increase in initial and final kinetic energy absorption compared to its mono-S_tF counterpart. The hybrid blend of 0.75% S_tF and 0.25% PPF also showed reduced porosity (1.73%), lower water absorption (0.602%), and decreased saturation absorption (16.6%) compared to the monofilament S_tF mix. SEM analysis further confirmed that the hybrid fiber composition improved the fiber-matrix interface and reduced porosity. Furthermore, among all the mixes, the control and 3P mixes showed the highest environmental efficiency and reduced carbon emissions, energy consumption and costs. These results indicate that hybrid fiber systems can significantly enhance the mechanical performance, impact resistance, and durability of UHPC while simultaneously promoting the use of environmentally friendly cementitious compositions. This highlights the potential of hybrid fiber-reinforced UHPC for advanced structural applications.

This investigation is to explore how CeO₂ affects the physical, structural, and spectroscopic characteristics of tellurium soda-borate glasses for potential applications in optoelectronics. The conventional melt quenching technique was used to produce the necessary glasses by adding different amounts of CeO₂ to the components of the tellurium soda-borate glasses. The non-crystalline nature of the samples was validated by the X-ray diffraction patterns. The density of glass samples was determined by Archimedes principle, and hence other physical properties like polaron radius, oxygen packing density, and average boron-boron separation were calculated. The FTIR spectra demonstrated the presence of fundamental structural groups of borate (BO₃ and BO₄) and tellurite (TeO₄ and TeO₃) in both the undoped and doped samples. FTIR also demonstrated the presence of the unique structural group of cerium tetrahedral CeO₄ when the B₂O₃ level was decreased. The optical properties were analysed for the glass samples by the UV-Visible spectroscopy method. Refractive index (RI) of the glasses was found by using suitable mathematical approaches, and the highest RI value was found for BTNC5. Metallization criterion, optical basicity, electronegativity, and optical properties are determined with the help of the obtained RI and optical energy bandgap. The values of direct and indirect energy gaps, optical basicity, and refractive index were all impacted by the variation of CeO₂ content. The CeO₂-doped BTNC glasses allowed 5d → 4f transitions of Ce³⁺ ions and gave a wide green emission at 512 nm. The CIE diagram showed that CeO₂-doped BTNC glasses lie in the green to yellowish region. The CCT values are > 5000 K, indicating a cool CCT. The obtained results of optical and luminescence properties indicate that the BTNC glasses are potential candidates for light-emitting devices.

Since its inception in 1986, Nepal's Annapurna Conservation Area (ACA) has made significant strides as one of the world's first Integrative Conservation Development Projects, balancing community needs, development, and conservation. In this time, attitudes among residents towards carnivores such as snow leopards Panthera uncia have improved dramatically. Despite this, carnivore depredation of livestock continues to threaten local agropastoral livelihoods, creating tensions between residents and the ACA. In this study, we reassess the drivers of community perceptions of human-carnivore conflict through semi-structured interviews with residents, key informants, and focus group discussions. Analyzed through ordinal logistic models and qualitative examination, our 2025 survey responses reflect sustained improvements in community attitudes toward snow leopards since initial studies in 1994, while perceptions of wolves Canis Lupis remain overwhelmingly negative. The key driver of perceptions of snow leopards is the growth of the tourism industry as an alternative income source, in addition to education and gender. Perceptions of conservation actors are mixed, with an overall belief that local bodies represent pastoralist interests better than ACA upper management, with the livestock compensation scheme as a key source of tension. Our findings will inform future conservation policy that addresses human-wildlife conflict among shifts in human livelihoods, demographic shifts, and climate change.

The Cu pillar bump, an electrode formed on a silicon chip, connects the devices inside a high bandwidth memory (HBM) package and is the most important interconnection affecting the electrical, thermal, and mechanical properties of advanced semiconductor package. Recently, the number of input/output (I/O) in HBM packages has been increasing and the fine pitch of Cu pillar is also becoming significantly smaller. Therefore, the bonding strength between electrodes is deteriorating due to the increase in interconnection density and fine pitch, which threatens the reliability of semiconductor packages. Also, the bonding strengths between Cu pillars, electrodes inside HBM package are greatly affected by the plating process, package temperature, interconnection technology, package process, as well as thermal expansion coefficient of materials, crystal structure and orientation of the material, and electrochemical reaction while using electronic packages. After Ti is sputtered as a bonding layer and Cu is sputtered as a seed layer onto the Si chip electrode, and finally, Cu pillar bumps (25 μm in diameter, 55 μm in pitch) are formed through electroplating. When the Cu seed layer is removed by etching, leaving only the electrode portion of chip, the Cu pillar bump is completed, but an undercut occurs at the interface of Cu pillar and Cu seed layer during the etching process of Cu seed layer. Electroplating process of Cu pillar bump was performed at conditions of 3.0, 8.0 and 13.0 A/dm² (ASD). However, the grain size and the orientation of Cu pillar bumps changed significantly depending on the electroplating current density, and the undercut length also varied accordingly. The orientations and the grain sizes of Cu pillar bump was analyzed by EBSD and SEM, respectively. The grain orientation of the Cu filler bump was (111) at a current of 3.0 ASD, and the (100) and (110) orientations of the Cu filler bump were mainly formed at current conditions of 8.0 and 13.0 ASD. Also, the grain size of the Cu filler bump was 2.77 μm when the current density was 3.0 ASD, and 0.93 μm at current density of 13.0 ASD. Length of the undercut etched at the interface of Cu pillars and Cu pad of Si chip increased from 0.43 μm at 3.0 ASD to 1.72 μm at ASD 13.0. Thus, shear strength of Cu pillar bump decreased rapidly from 35.77 gf to 17.65 gf. This study is expected to contribute greatly to improving the reliability of next generation semiconductor packages by clarifying the correlation between electroplating conditions, orientation of grain in Cu pillar, and shear strength of Cu pillar bump.