Search Results (8)

Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families. A targeted panel of genes was chosen and analyzed for each case, based on a detailed examination of clinical data. Gene analyses revealed that specific variants concern key neurobiological processes involving neuronal architecture, development, and function. These variants occur in a number of genes, including SHANK3, DLG3, NALCN, and PACS2 which are critical for synaptic signaling imbalance, CEP120 and BBS5 for ciliopathies, SPTAN1 for spectrins structure, SPATA5, TRAK1, and VPS13B for neuronal organelles trafficking and integrity, TAF6, SMARCB1, DDX3X, MECP2, and SETD1A for gene expression, CDK13 for cell cycle control, ALDH5A1, DPYD, FH, and PDHX for mitochondrial function, and PQBP1, HUWE1, and WDR45 for neuron homeostasis. Novel single nucleotide variants in the SPATA5, CEP120, BBS5, SETD1A, TRAK1, VPS13B, and DDX3X genes have been identified and proposed for use in ASD diagnostics. Our data contribute to a better understanding of the complex neurobiological features of autism and are applicable in the diagnosis and development of personalized therapeutic approaches. Full article

Hydrogen (H₂) gas, with its high calorimetric combustion energy and cleanness, is a green source of energy and an alternative to fossil fuels. However, it has a small kinetic diameter, with high diffusivity and a highly explosive nature. Hence, the reliable detection of H₂ gas is essential in various fields such as fuel cells. Herein, we decorated ZnO nanoparticles (NPs) with Pd noble metal NPs, using UV irradiation to enhance their H₂ gas-sensing performance. The synthesized materials were fully characterized in terms of their phases, morphologies, and chemical composition. Then, the sensing layer was deposited on the electrode-patterned glass substrate to make a transparent sensor. The fabricated transparent gas sensor was able to detect H₂ gas at various temperatures and humidity levels. At 250 °C, the sensor exhibited the highest response to H₂ gas. As a novelty of the present study, we successfully detected H₂ gas in mixtures of H₂/benzene and H₂/toluene gases. The enhanced H₂ gas response was related to the catalytic effect of Pd, the formation of heterojunctions between Pd and ZnO, the partial reduction of ZnO to Zn in the presence of H₂ gas, and the formation of PdH_x. With a high performance in a high response, good selectivity, and repeatability, we believe that the sensor developed in this study can be a good candidate for practical applications where the detection of H₂ is necessary. Full article

Artificial insemination (AI) with liquid-stored semen is the most prevalent and efficient assisted reproduction technique in the modern pork industry. Pyruvate dehydrogenase complex component X (PDHX) was demonstrated to be associated with sperm metabolism and affected the boar sperm viability, motility, and fertility. Pyruvate Dehydrogenase Kinases (PDKs) are the key metabolic enzymes that regulate pyruvate dehydrogenase complex (PDHC) activity and also the conversion from glycolysis to oxidative phosphorylation. In the present study, two PDK inhibitors, Dichloroacetate (DCA) and Phenylbutyrate (4-PBA), were added to an extender and investigated to determine their regulatory roles in liquid-stored boar sperm at 17 °C. The results indicated that PDK1 and PDK3 were predominantly located at the head and flagella of the boar sperm. The addition of 2 mM DCA and 0.5 mM 4-PBA significantly enhanced the sperm motility, plasma membrane integrity (PMI), mitochondrial membrane potential (MMP), and ATP content. In addition, DCA and 4-PBA exerted their effects by inhibiting PDK1 and PDK3, respectively. In conclusion, DCA and 4-PBA were found to regulate the boar sperm metabolic activities via PDK1 and PDK3. These both can improve the quality parameters of liquid-stored boar sperm, which will help to improve and optimize liquid-stored boar semen after their addition in the extender. Full article

Hydrogen (H₂) sensors are critical to various applications such as the situation where H₂ is used as the clean energy for industry or the indicator for human disease diagnosis. Palladium (Pd) is widely used as the hydrogen sensing material in different types of sensors. Optical fiber H₂ sensors are particularly promising due to their compactness and spark-free operation. Here, we report a Fabry–Pérot (FP)-cavity-based H₂ sensor that is formed with a freestanding Pd membrane and integrated on a conventional single-mode optical fiber end. The freestanding Pd membrane acts both as the active hydrogen sensing material and as one of the reflective mirrors of the cavity. When the Pd film absorbs H₂ to form PdH_x, it will be stretched, resulting in a change of the cavity length and thus a shift of the interference spectrum. The H₂ concentration can be derived from the amplitude of the wavelength shift. Experimental results showed that H₂ sensors based on suspended Pd membranes can achieve a detection sensitivity of about 3.6 pm/ppm and a detection limit of about 3.3 ppm. This highly sensitive detection scheme is expected to find applications for sensing low-concentration H₂. Full article

Structure-sensitive catalyzed reactions can be influenced by a number of parameters. So far, it has been established that the formation of Pd-C species is responsible for the behavior of Pd nanoparticles employed as catalysts in a butadiene partial hydrogenation reaction. In this study, we introduce some experimental evidence indicating that subsurface Pd hydride species are governing the reactivity of this reaction. In particular, we detect that the extent of formation/decomposition of PdHx species is very sensitive to the Pd nanoparticle aggregate dimensions, and this finally controls the selectivity in this process. The main and direct methodology applied to determine this reaction mechanism step is time-resolved high-energy X-ray diffraction (HEXRD). Full article

To develop a high-performance hydrogen gas sensor, we fabricated a composite film made of carbon nanotubes (CNTs) and palladium nanoparticles. Carbon nanotubes were spin-coated onto a glass substrate, and subsequently, palladium nanoparticles were sputtered onto this film. The response to hydrogen gas was measured during two seasons (summer and winter) using a vacuum chamber by introducing a hydrogen/argon gas mixture. There was a clear difference in the sensor response despite the temperature difference between summer and winter. In addition, since a clean chamber was used, fewer water molecules acted as a dopant, and the behavior of the CNT changed from p-type to n-type because of the dissociative adsorption of hydrogen. This phenomenon was confirmed as the Seebeck effect. Finally, the work functions of Pd, PdH_x, and CNT were calculated by first-principle calculations. As predicted by previous studies, a decrease in work function due to hydrogen adsorption was confirmed; however, the electron transfer to CNT was not appropriate from the perspective of charge neutrality and was found to be localized at the Pd/CNT interface. It seems that the Seebeck effect causes the concentration of conductive carriers to change. Full article

miR-26a is associated with sperm metabolism and can affect sperm motility and apoptosis. However, how miR-26a affects sperm motility remains largely unknown. Our previous study indicated that the PDHX gene is predicted to be a potential target of miR-26a, which is responsible for pyruvate oxidative decarboxylation which is considered as a key step for connecting glycolysis with oxidative phosphorylation. In this study, we first reported a potential relationship between miR-26a and PDHX and their expressions in fresh, frozen-thawed, and epididymal boar sperm. Then, sperm viability and survival were determined after transfection of miR-26a. mRNA and protein expression level of PDHX in the liquid-preserved boar sperm after transfection were also determined by RT-qPCR and Western Blot (WB). Our results showed that expression level of PDHX was significantly increased during sperm transit from epididymal caput to corpus and cauda. Similarly, expression of PDHX was significantly higher (P < 0.05) in fresh sperm as compared to epididymal cauda and frozen-thawed sperm. However, the expression of miR-26a in epididymal corpus sperm was significantly higher (P < 0.05) than that of caput and cauda sperm. Furthermore, after transfection of boar sperm with miR-26a mimic and inhibitor under liquid storage, the lowest and highest sperm viability was observed in miR-26a mimic and inhibitor treatment (P < 0.05), respectively. The protein levels of PDHX, after 24 and 48 h of transfection of miR-26a mimics and inhibitor, were notably decreased and increased (P < 0.05), respectively, as compared to negative control (NC) group. In conclusion, the novel and enticing findings of our study provide a reasonable evidence that miR-26a via PDHX, a link between glycolysis and oxidative phosphorylation, could regulate the glycometabolic pathway which eventually affect boar sperm viability and survival. Full article

Pd nanoparticle-functionalized, xIn₂O₃ (x = 0.05, 0.1, and 0.15)-loaded ZnO nanofibers were synthesized by an electrospinning and ultraviolet (UV) irradiation method and assessed for their hydrogen gas sensing properties. Morphological and chemical analyses revealed the desired morphology and chemical composition of the synthesized nanofibers. The optimal gas sensor namely Pd-functionalized, 0.1In₂O₃-loaded ZnO nanofibers showed a very strong response to 172–50 ppb hydrogen gas at 350 °C, which is regarded as the optimal sensing temperature. Furthermore, the gas sensors showed excellent selectivity to hydrogen gas due to the much lower response to CO and NO₂ gases. The enhanced gas response was attributed to the excellent catalytic activity of Pd to hydrogen gas, and the formation of Pd/ZnO and In₂O₃/ZnO heterojunctions, ZnO–ZnO homojunction, as well as the formation of PdH_x. Overall, highly sensitive and selective hydrogen gas sensors can be produced based on a simple methodology using a synergistic effect from Pd functionalization and In₂O₃ loading in ZnO nanofibers. Full article