[Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].

OBJECTIVE: To explore the clinical characteristics of 1q21.1 microdeletion by using single nucleotide polymorphism microarrays (SNP array). METHODS: Eighteen cases of 1q21.1 microdeletion syndrome diagnosed at the Longgang District Maternal and Child Health Care Hospital of Shenzhen City from June 2017 to December 2022 were selected as the study subjects. Clinical data of the patients were collected. Results of chromosomal karyotyping and SNP assay were retrospectively analyzed. RESULTS: Among the 18 cases with 1q21.1 microdeletions, 13 had a deletion between BP3 and BP4, 4 had a deletion between BP1/BP2 and BP4, whilst 1 had a proximal 1q21.1 deletion (between BP2 and BP3) involving the Thrombocytopenia-absent radius (TAR) region. The deletions had spanned from 360 kb to 3.9 Mb, which encompassed the GJA5, GJA8, CHD1L, RBM8AB and other morbid genes. In three families, the proband child has inherited the same 1q21.1 microdeletion from their parents, whose clinical phenotype was normal or slightly abnormal. The clinical phenotypes of 1q21.1 microdeletion had included cognitive or behavioral deficits in 9 cases (9/18, 50.0%), growth retardation in 8 cases (8/18, 44.4%), craniofacial deformities in 7 cases (7/18, 38.8%), cardiovascular malformations in 5 cases (5/18, 27.8%), and microcephaly in 3 cases (3/18, 16.7%). CONCLUSION: 1q21.1 microdeletion syndrome has incomplete penetrance and varied expression such as intellectual impairment, growth and development delay, and microcephaly, with a wide range of non-specific phenotypes.

Transformer Monitoring with Electromagnetic Energy Transmission and Wireless Sensing.

To ensure stable and normal transformer operation, light gas protection of the transformer Buchholz relay is essential. However, false alarms related to light gas protection are common, and troubleshooting them often requires on-site gas sampling by personnel. During this time, the transformer's operating state may rapidly deteriorate, posing a safety threat to field staff. To tackle these challenges, this work presents the near-field, thin-sliced transformer monitoring system that uses Electromagnetic Energy Transmission and Wireless Sensing Device (ETWSD). The system leverages external wireless energy input to power gas monitoring sensors. Simultaneously, it employs Near-Field Communication to obtain real-time concentrations of light gases, along with the electrified state and temperature. In field testing conducted on transformer relays' gas collection chambers, the ETWSD effortlessly monitors parameters within warning ranges, encompassing methane gas concentrations around 1000 ppm, leakage voltage ranging from 0-100 V, and relay working temperatures up to 90 °C. Additionally, to facilitate real-time diagnosis for electrical workers, we have developed an Android-based APP software that displays current light gas concentrations, leakage voltage collection values, and temperature, while also enabling threshold judgment, alarms, and data storage. The developed ETWSD is expected to aid on-site personnel in promptly and accurately evaluating transformer light gas protection error alarm faults. It provides a method for simultaneous, contactless, and rapid monitoring of multiple indicators.

The Failure Mechanism of Micro Thermoelectric Devices under the Action of the Temperature Field.

The micro thermoelectric device (m-TED) boasts features such as adjustable volume, straightforward structure, and precise, rapid temperature control, positioning it as the only current solution for managing the temperature of microelectronic systems. It is extensively utilized in 5G optical modules, laser lidars, and infrared detection. Nevertheless, as the size of the m-TED diminishes, the growing proportion of interface damages the device's operational reliability, constraining the advancement of the m-TED. In this study, we used commercially available bismuth telluride materials to construct the m-TED. The device's reliability was tested under various temperatures: -40, 85, 125, and 150 °C. By deconstructing and analyzing the devices that failed during the tests, we discovered that the primary cause of device failure was the degradation of the solder layer. Moreover, we demonstrated that encapsulating the device with polydimethylsiloxane (PDMS) could effectively delay the deterioration of its performance. This study sparks new insights into the service reliability of m-TEDs and paves the way for further optimizing device interface design and enhancing the device manufacturing process.

Robust and sensitive conductive nanocomposite hydrogel with bridge cross-linking-dominated hierarchical structural design.

Conductive hydrogels have a remarkable potential for applications in soft electronics and robotics, owing to their noteworthy attributes, including electrical conductivity, stretchability, biocompatibility, etc. However, the limited strength and toughness of these hydrogels have traditionally impeded their practical implementation. Inspired by the hierarchical architecture of high-performance biological composites found in nature, we successfully fabricate a robust and sensitive conductive nanocomposite hydrogel through self-assembly-induced bridge cross-linking of MgB2 nanosheets and polyvinyl alcohol hydrogels. By combining the hierarchical lamellar microstructure with robust molecular B─O─C covalent bonds, the resulting conductive hydrogel exhibits an exceptional strength and toughness. Moreover, the hydrogel demonstrates exceptional sensitivity (response/relaxation time, 20 milliseconds; detection lower limit, ~1 Pascal) under external deformation. Such characteristics enable the conductive hydrogel to exhibit superior performance in soft sensing applications. This study introduces a high-performance conductive hydrogel and opens up exciting possibilities for the development of soft electronics.

Multi-Objective Optimization of The Low-Pressure Casting of Large-Size Aluminum Alloy Wheels through a Systematic Optimization Idea.

The process parameters in the low-pressure casting of large-size aluminum alloy wheels are systematically optimized in this work using numerical casting simulation, response surface methodology (RSM), and genetic algorithm (NSGA-II). A nonlinear input-output relationship was established based on the Box-Behnken experimental design (BBD) for the crucial casting parameters (pouring temperature, mold temperature, holding pressure, holding time), and response indicators (defect volume fraction, spokes large plane mean secondary dendrite spacing (SDAS)), and a mathematical model was developed by regression analysis. The Isight 2017 Design Gateway and NSGA-II algorithm were used to increase the population and look for the best overall solution for the casting parameters. The significance and predictive power of the model were assessed using ANOVA. Casting numerical simulation was used to confirm the best option. To accomplish systematic optimization in its low-pressure casting process, the mold cooling process parameters were adjusted following the local solidification rate. The results showed that the mathematical model was reliable. The optimal solutions were a pouring temperature of 703 °C, mold temperature of 409 °C, holding pressure of 1086 mb, and holding time of 249 s. The mold cooling process was further optimized, and the sequence solidification of the optimal solution was realized under the optimized cooling process. Finally, the wheel hub was manufactured on a trial basis. The X-ray detection, mechanical property analysis, and metallographic observation showed that the wheel hub had no X-ray defects and its mechanical properties were well strengthened. The effectiveness of the system optimization process scheme was verified.

Pressure Driven Rapid Reconfigurable Liquid Metal Patterning.

This paper proposes a method for pressure driven rapid reconfigurable liquid metal patterning. A sandwich structure of "pattern-film-cavity" is designed to complete this function. Both sides of the highly elastic polymer film are bonded with two PDMS slabs. One PDMS slab has microchannels patterned on the surface. The other PDMS slab has a large cavity on its surface for liquid metal storage. These two PDMS slabs are bonded together, face to face, with the polymer film in the middle. In order to control the distribution of the liquid metal in the microfluidic chip, the elastic film will deform under the high pressure of the working medium in the microchannels and then extrude the liquid metal into different patterns in the cavity. This paper studies the factors of liquid metal patterning in detail, including external control conditions, such as the type and pressure of the working medium and the critical dimensions of the chip structure. Moreover, both a single-pattern and a double-pattern chip are fabricated in this paper, which can form or reconfigure the liquid metal pattern within 800 ms. Based on the above methods, reconfigurable antennas of two frequencies are designed and fabricated. Meanwhile, their performance is simulated and tested by simulation and vector network tests. The operating frequencies of the two antennas are respectively significantly switching between 4.66 GHz and 9.97 GHz.

Dietary Supplementation with Rutin Alters Meat Quality, Fatty Acid Profile, Antioxidant Capacity, and Expression Levels of Genes Associated with Lipid Metabolism in Breast Muscle of Qingyuan Partridge Chickens.

Consumer demand for tasty and quality meat has been quickly increasing. This study investigated how dietary supplemented rutin affects meat quality, muscle fatty acid profile, and antioxidant capacity in the Chinese indigenous Qingyuan partridge chicken. A cohort of 180 healthy 119-day-old chickens was subjected to a randomized assignment into three groups, identified as the control, R200, and R400 groups, with respective supplementation of 0, 200, and 400 mg/kg of rutin. The results revealed insignificance in growth performance, namely, average daily gain, average daily feed intake, and feed-to-gain ratio, across the various treatment groups (p > 0.05). Nevertheless, dietary rutin supplementation increased (p < 0.05) breast muscle yield and intramuscular fat content in breast muscle and decreased (p < 0.05) drip loss in breast muscle. Rutin supplementation increased (p < 0.05) the content of high-density lipoprotein but decreased (p < 0.05) the contents of glucose, triglyceride, and total cholesterol in serum. Rutin supplementation increased (p < 0.05) the levels of DHA (C22:6n-3), total polyunsaturated fatty acids (PUFAs), n-3 PUFAs, decanoic acid (C10:0), the activity of Δ5 + Δ6 (22:6 (n - 3)/18:3 (n - 3)), and the ratio of PUFA/SFA in breast muscle but decreased (p < 0.05) the level of palmitoleic acid (C16:1n-7), the ratio of n-6/n-3 PUFAs, and the activity of Δ9 (16:1 (n - 7)/16:0). Rutin treatment also reduced (p < 0.05) the contents of malondialdehyde in serum and breast muscle, and increased (p < 0.05) the catalase activity and total antioxidant capacity in serum and breast muscle and the activity of total superoxide dismutase in serum. Additionally, rutin supplementation downregulated the expression of AMPKα and upregulated the expression of PPARG, FADS1, FAS, ELOVL7, NRF2, and CAT in breast muscle (p < 0.05). Convincingly, the results revealed that rutin supplementation improved meat quality, fatty acid profiles, especially n-3 PUFAs, and the antioxidant capacity of Qingyuan partridge chickens.

Guanidine Acetic Acid Alters Tissue Bound Amino Acid Profiles and Oxidative Status in Finishing Pigs.

This study aims to investigate the effects of guanidine acetic acid (GAA) on carcass traits, plasma biochemical parameters, tissue antioxidant capacity, and tissue-bound amino acid contents in finishing pigs. Seventy-two 140-day-old (body weight 86.59 ± 1.16 kg) crossbred pigs (Duroc × Landrace × Large White) were randomly assigned into four treatments with six replicate pens and three pigs per pen, which were fed the basal diets supplemented with 0, 0.05%, 0.10%, or 0.15% GAA, respectively. The plasma glucose concentration decreased, and creatine kinase activity and levels of GAA and creatine increased with the dietary GAA concentration. GAA linearly improved creatine content in the longissimus thoracis muscle (LM) and heart. The activities of superoxide dismutase, total antioxidant capacity, and glutathione peroxidase increased linearly in tissue or/and plasma, while the contents of malondialdehyde and protein carbonyl decreased linearly. GAA improved the contents of multiple-bound amino acids (such as proline or isoleucine) in the myocardium and LM. In conclusion, GAA enhanced the plasma biochemical parameters, oxidative status, and bound amino acid profiles of the heart and LM in finishing pigs.

High Pressure Drives Microstructure Modification and zT Enhancement in Bismuth Telluride-Based Alloys.

Manipulating and integrating the microstructures at different scales is crucial to tune the electrical and thermal properties of a given compound. High-pressure sintering can modify the multiscale microstructures and thus empower the cutting-edge thermoelectric performance. In this work, the high-pressure sintering technique followed by annealing is adopted to prepare Gd-doped p-type (Bi0.2Sb0.8)2(Te0.97Se0.03)3 alloys. First, the high energy of high-pressure sintering promotes the reduction of grain size, thus increasing the content of 2D grain boundaries. Next, high-pressure sintering induces strong interior strain, where 1D dense dislocations are generated near the strain field. More interestingly, the rare-earth element Gd with a high melting temperature is dissolved into the matrix via high-pressure sintering, thus promoting the formation of 0D extrinsic point defects. This concurrently improves the carrier concentration and density-of-state effective mass, resulting in an enhanced power factor. In addition, the integrated 0D point defects, 1D dislocations, and 2D grain boundaries by high-pressure sintering strengthen phonon scattering, thereby achieving a low lattice thermal conductivity of 0.5 Wm-1 K-1 at 348 K. Consequently, a maximum zT value of ∼1.1 at 348 K is achieved in the 0.4 at % Gd-doped (Bi0.2Sb0.8)2(Te0.97Se0.03)3 sample. This work demonstrates that high-pressure sintering enables microstructure modification to enhance the thermoelectric performance of Bi2Te3-based and other bulk materials.

Precision enhanced alignment bonding technique with sacrificial strategy.

This work proposes an "N2-1" sacrificial strategy to help to improve the accuracy of the bonding technique from the existing level. The target micropattern is copied N2 times, and (N2-1) of them are sacrificed to obtain the most accurate alignment. Meanwhile, a method for manufacturing auxiliary solid alignment lines on transparent materials is proposed to visualize auxiliary marks and facilitate the alignment. Though the principle and procedure of alignment are straightforward, the alignment accuracy substantially improved compared to the original method. With this technique, we have successfully fabricated a high-precision 3D electroosmotic micropump just using a conventional desktop aligner. Because of the high precision during the alignment, the flow velocity is up to 435.62 µm/s at a driven voltage of 40 V, which far exceeds the previous similar reports. Thus, we believe that it has great potential for high precision microfluidic device fabrications.

Low-dose arecoline regulates distinct core signaling pathways in oral submucous fibrosis and oral squamous cell carcinoma.

BACKGROUND: Betel nut chewing plays a role in the pathogenesis of oral submucous fibrosis (OSF) and oral squamous cell carcinoma (OSCC). As the major active ingredient of the betel nut, the effect of arecoline and its underlying mechanism to OSF and OSCC pathogenesis remain unclear. METHODS: Next-generation sequencing-based transcriptome and dRRBS analysis were performed on OSF and OSCC cells under low-dose arecoline exposure. Functional analyses were performed to compare the different roles of arecoline during OSF and OSCC pathogenesis, and key genes were identified. RESULTS: In this study, we identified that low-dose arecoline promoted cell proliferation of both NFs and OSCC cells via the acceleration of cell cycle progression, while high-dose arecoline was cytotoxic to both NFs and OSCC cells. We performed for the first time the transcriptome and methylome landscapes of NFs and OSCC cells under low-dose arecoline exposure. We found distinct transcriptome and methylome profiles mediated by low-dose arecoline in OSF and OSCC cells, as well as specific genes and signaling pathways associated with metabolic disorders induced by low-dose arecoline exposure. Additionally, low-dose arecoline displayed different functions at different stages, participating in the modulation of the extracellular matrix via Wnt signaling in NFs and epigenetic regulation in OSCC cells. After exposure to low-dose arecoline, the node roles of FMOD in NFs and histone gene clusters in OSCC cells were found. Meanwhile, some key methylated genes induced by arecoline were also identified, like PTPRM and FOXD3 in NFs, SALL3 and IRF8 in OSCC cells, indicating early molecular events mediated by arecoline during OSF and OSCC pathogenesis. CONCLUSIONS: This study elucidated the contribution of low-dose arecoline to OSF and OSCC pathogenesis and identified key molecular events that could be targeted for further functional studies and their potential as biomarkers.

Mulberry leaf extract improves intestinal barrier function and displays beneficial effects on colonic microbiota and microbial metabolism in weaned piglets.

BACKGROUND: Mulberry leaf extract (MLE) extracted from mulberry leaves is rich in a variety of bioactive ingredients and can be used as feed additives of weaned piglets. The present study was conducted to evaluate the effects of dietary MLE supplementation on intestinal barrier function, colon microbial numbers and microbial metabolites of weaned piglets. RESULTS: MLE supplementation increased the villus height and the villus height/crypt depth ratio in jejunum and ileum (P < 0.05), increased the mRNA expression of ZO-1, Claudin-1 and MUC-2 in the ileal mucosa (P < 0.05), and decreased the serum level of lipopolysaccharide (P < 0.01). Meanwhile, MLE reduced the mRNA expression of tumor necrosis factor-α and interleukin-1ß (P < 0.05) and increased secretory immunoglobulin A level in the ileal mucosa (P < 0.05). In addition, MLE increased the numbers of beneficial bacteria Bifidobacterium and Lactobacillus (P < 0.05) and decreased the number of potential pathogenic bacteria Escherichia coli (P < 0.05) in the colon. Correspondingly, MLE supplementation reduced the pH value of colonic digesta (P < 0.05) and altered the microbial fermentation pattern of the colon by increasing the concentrations of microbial metabolites derived from carbohydrates fermentation such as lactate, acetate, butyrate and total short-chain fatty acids (P < 0.05), and decreasing the concentrations of microbial metabolites derived from amino acid fermentation such as p-cresol, skatole, spermine, histamine and tryptamine (P < 0.05). CONCLUSION: MLE supplementation improved intestinal barrier function and displayed beneficial effects on colon microbes and microbial metabolism in weaned piglets. © 2022 Society of Chemical Industry.

Recycling of ferronickel slag tailing in cementitious materials: Activation and performance.

As an industrial by-product containing pozzolanic components, recycled ferronickel slag (FNS) has the potential to be supplementary cementitious materials (SCMs) to reduce the massive carbon footprint of the cement industry, however, the main limitation of ferronickel slag as SCMs is the low hydration rate at an early age. In this study, the pozzolanic activity property results indicate that if the proportion is more than 10 %, FSN can hardly participate in the cement hydration reaction during the early stage, even the mechanical strength of FNS-mortar decreases obviously with the higher proportion of ferronickel slag. Therefore, mechanical grinding and steam curing at an early age are applied to promote the reaction activity of the recycled ferronickel slag tailing in this study. Compared with standard curing, the compressive strength of hardened FNS-cement paste with steam curing at 60 °C or 80 °C increased by 8.2 % or 33.8 %, and the connected porosity decreased by 18.9 % or 17.3 %. And MgO in the ferronickel slag exists as Mg2SiO4 in raw materials and enters the C-S-H gel with the formation of M-S-H gel during the secondary hydration stage. This study provides a theoretical basis for solid waste-based concrete and promotes the recycling, conservation, and resources of solid waste in building materials.

A Novel Flexible Liquid Metal Microheater with a Textured Structure.

In this paper, we propose a novel liquid metal microheater utilizing a textured structure. This microheater effectively solves the problem of the liquid metal in the PDMS flow channel fracturing at a certain temperature and significantly increases the maximum operating temperature that can be achieved by the current liquid metal microheater. Experimental results demonstrate that this new structured microheater can achieve a maximum operating temperature exceeding 300 °C. To explain the performance improvement and the reasons behind liquid metal fracture, corresponding experiments were conducted, and explanations were provided based on the experimental results. Subsequently, we verified the mechanical flexibility of the microheater and found that it exhibits excellent tensile and bending resistance. Finally, utilizing its good mechanical flexibility, the microheater was successfully attached to the side wall of a cup, resulting in the boiling of water.

Aberrant messenger RNA expression in peripheral blood mononuclear cells is associated with gouty arthritis.

AIM: Gouty arthritis (GA) is a type of self-limiting inflammatory arthritis caused by deposition of monosodium urate (MSU). This study aimed to analyze the expression variation of messenger RNAs (mRNAs) in GA patients and investigated the role of mRNAs in GA pathogenesis. METHODS: Five patients with acute GA (AGA), 5 with non-acute GA (NAGA), and 5 healthy controls (HC) were recruited to examine differential mRNA expression profiles in peripheral blood mononuclear cells (PBMCs) and explore whether mRNA is involved in the pathogenesis of AGA. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases were used to study the biological functions of differentially expressed mRNA and the relationship between genes and signal pathways. RESULTS: Compared with HC, the AGA group had 1456 differentially expressed mRNAs, while the NAGA group had 437 differentially expressed mRNAs and compared with the NAGA group, 115 differentially expressed mRNAs were found in the AGA group. GO analysis showed that the differentially expressed mRNA in the AGA group was mainly enriched in processes related to leukocyte activation and immune response, while KEGG analysis showed that "Staphylococcus aureus infection" and "Cytokine-cytokine receptor interaction" are enriched in the up-regulated mRNAs in the AGA group. CONCLUSION: This study identified genes and pathways that are differentially expressed during the onset of AGA, which might reveal part of the pathogenesis of the disease and provide clues to explaining the severe pain associated with disease onset and the rapid development of inflammatory response that subsides by itself.

Nondestructive Monitoring Hydration of Belite Calcium Sulfoaluminate Cement by EIS Measurement.

In this study, the impact of water-to-cement (w/c) ratios of belite calcium sulfoaluminate cement (BCSA) on the hydration kinetics and the electrochemical impedance spectroscopy (EIS) parameters is studied. According to the analysis of classic hydration measurements, such as calorimetry tests, chemical shrinkage content, and chemically bound water content, it can be concluded that a higher w/c ratio clearly accelerates the hydration of BCSA cement paste. The electrical resistivity of BCSA0.35 cement paste is more than 4.5 times that of BCSA0.45 and BCSA0.5, due to the gradually densified micropore structure blocking the electrical signal transmission rather than the free charged-ion content. The porosity of BCSA0.5 is 27.5% higher than that of BCSA0.35 and 7.8% higher than that of BCSA0.45, which proves the resistivity is clearly related to the variation in microstructure, especially for the porosity and pore size distribution. The novelty of this study is the linear regression with logarithm terms of electrical resistivity and classic hydration parameters such as chemical shrinkage, cumulative hydration heat, and chemically bound water is established to extend the classical expression of cement hydration degree. It indicates that the electrochemical impedance spectroscopy can be taken as a nondestructive testing measurement to real-time monitor the cement hydration process of cement-based materials.

A Liquid Metal-Enhanced Wearable Thermoelectric Generator.

It is a key challenge to continuously power personal wearable health monitoring systems. This paper reports a novel liquid metal-enhanced wearable thermoelectric generator (LM-WTEG that directly converts body heat into electricity for powering the wearable sensor system. The gallium-based liquid metal alloys with room-temperature melting point (24~30 °C) and high latent heat density (about 500 MJ/m3) are used to design a new flexible finned heat sink, which not only absorbs the heat through the solid-liquid phase change of the LM and enhances the heat release to the ambient air due to its high thermal conduction. The LM finned is integrated with WTEG to present high biaxial flexibility, which could be tightly in contact with the skin. The LM-WTEG could achieve a super high output power density of 275 µW/cm2 for the simulated heat source (37 °C) with the natural convective heat transfer condition. The energy management unit, the multi-parameter sensors (including temperature, humidity, and accelerometer), and Bluetooth module with a total energy consumption of about 65 µW are designed, which are fully powered from LM-WTEG through harvesting body heat.

WITHDRAWN: Circ_0136474 contributes to the IL-1ß-induced chondrocyte injury by binding to miR-665 to induce the FGFR1 upregulation.

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Exogenous Glutathione Protects IPEC-J2 Cells against Oxidative Stress through a Mitochondrial Mechanism.

The accumulation of reactive oxygen species (ROS) triggers oxidative stress in cells by oxidizing and modifying various cellular components, preventing them from performing their inherent functions, ultimately leading to apoptosis and autophagy. Glutathione (GSH) is a ubiquitous intracellular peptide with multiple functions. In this study, a hydrogen peroxide (H2O2)-induced oxidative damage model in IPEC-J2 cells was used to investigate the cellular protection mechanism of exogenous GSH against oxidative stress. The results showed that GSH supplement improved the cell viability reduced by H2O2-induced oxidative damage model in IPEC-J2 cells in a dose-dependent manner. Moreover, supplement with GSH also attenuated the H2O2-induced MMP loss, and effectively decreased the H2O2-induced mitochondrial dysfunction by increasing the content of mtDNA and upregulating the expression TFAM. Exogenous GSH treatment significantly decreased the ROS and MDA levels, improved SOD activity in H2O2-treated cells and reduced H2O2-induced early apoptosis in IPEC-J2 cells. This study showed that exogenous GSH can protect IPEC-J2 cells against apoptosis induced by oxidative stress through mitochondrial mechanisms.