Functional analysis of a novel homozygous missense gene variant: a case report with dual genetic diagnoses.

Background: Genomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes. Herein, we are the first to report a 5-year-old boy with the blended phenotypes of infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, and elevated isovaleryl carnitine.

Methods: Trio-based whole-exome sequencing was performed on genomic DNA from peripheral blood samples from the boy and his parents.

Polysaccharides from Astragalus membranaceus Bunge alleviate LPS-induced neuroinflammation in mice by modulating microbe-metabolite-brain axis and MAPK/NF-κB signaling pathway.

Neuroinflammation can lead to various neurodegenerative disorders, resulting in irreversible neurological dysfunction. Astragalus membranaceus Bunge polysaccharides (APS) present great potential in alleviating neuroinflammation; however, the specific mechanism underlying its neuroprotective effect remains unclear, leading to uncertain prospects for pharmaceutical applications. This study aims to elucidate the mechanism underlying APS-mediated inhibition of neuroinflammation in mice induced by lipopolysaccharide (LPS) through regulation of metabolic function, intestinal flora composition, and cell signaling transduction.

Turcz. Honey Prevents Inflammation Response and Inhibits Ferroptosis by / Pathway in DSS-Induced Human Caco-2 Cells.

Turcz. () honey, a monofloral honey, has garnered increased attention due to its origin in the plant. A previous study has shown that honey can ameliorate inflammation.

Does HPV vaccination during periconceptional or gestational period increase the risk of adverse pregnancy outcomes?-An updated systematic review and meta-analysis based on timing of vaccination.

Introduction: The human papillomavirus (HPV) vaccine is crucial in preventing cervical cancer, and a significant number of women in 135 countries worldwide may have unknowingly received the vaccine during peri-pregnancy or pregnancy due to a lack of regular pregnancy testing. Previous studies on the safety of pregnancy outcomes with vaccination before and after pregnancy have not reached definitive conclusions. Thus, we subdivided the vaccination time frame and conducted an updated study to further examine whether exposure to the HPV vaccine during pregnancy or the periconceptional period increases the likelihood of adverse pregnancy outcomes.

Janus Flexible Device with Microcone Channels for Sampling and Analysis of Biological Microfluidics.

Controlling the spontaneous directional transport of droplets plays an important role in the application of microchemical reactions and microdroplet detection. Although the relevant technologies have been widely studied, the existing spontaneous droplet transport strategies still face problems of complex structure, single function, and poor flexibility. Inspired by the spontaneous droplet transport strategy in nature, an asymmetric wettability surface with microcone channels (AWS-MC) is prepared on a flexible fabric by combining surface modification and femtosecond laser manufacturing technology.

Prenatal diagnosis of Silver-Russell syndrome with 8q12 deletion including the gene: a case report and review.

Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder. A retrospective analysis predicted that the live birth prevalence of SRS in Estonia is 1:15,886 [Yakoreva et al., Eur J Hum Genet, 2019, 27(11), 1649-1658].

Tumor Microenvironment Specific Regulation Ca-Fe-Nanospheres for Ferroptosis-Promoted Domino Synergistic Therapy and Tumor Immune Response.

Reactive oxygen species (ROS)-mediated emerging treatments exhibit unique advantages in cancer therapy in recent years. While the efficacy of ROS-involved tumor therapy is greatly restricted by complex tumor microenvironment (TME). Herein, a dual-metal CaO@CDs-Fe (CCF) nanosphere, with TME response and regulation capabilities, are proposed to improve ROS lethal power by a multiple cascade synergistic therapeutic strategy with domino effect.

Sensitivity and stability improvement on slippery surface-aggregated substrate for trace heavy metals detection using NELIBS.

The sensitive and stable detection of trace heavy metals in liquid is crucial given its profound impact on various aspects of human life. Currently, nanoparticle-enhanced laser-induced breakdown spectroscopy (NELIBS) with dried droplet method (DDM) is widely applied for heavy metals detection. Nevertheless, the coffee ring effect (CRE) in DDM affects the stability, accuracy, and sensitivity of NELIBS.

Flavor Chemical Research on Different Bee Pollen Varieties Using Fast E-Nose and E-Tongue Technology.

Bee pollen, derived from various plant sources, is renowned for its nutritional and bioactive properties, aroma, and taste. This study examined the bee pollen with the highest yield in China obtained from four plant species, namely (Bc), (Nn), (Cj), and (Fe), using fast e-nose and e-tongue technology to analyze their flavor chemistry. Results showed substantial differences in scent profiles among the varieties, with distinct odor compounds identified for each, including n-butanol, decanal, and ethanol, in Bc, Nn, and Cj, respectively.

Nanomaterials-Involved Tumor-Associated Macrophages' Reprogramming for Antitumor Therapy.

Tumor-associated macrophages (TAMs) play pivotal roles in tumor development. As primary contents of tumor environment (TME), TAMs secrete inflammation-related substances to regulate tumoral occurrence and development. There are two kinds of TAMs: the tumoricidal M1-like TAMs and protumoral M2-like TAMs.

Collagen I protects human keratinocytes HaCaT against UVB injury via restoring PINK1/parkin-mediated mitophagy.

Collagen I is a major component of extracellular matrix in human skin, and is also widely used in a variety of skin-care products. In this study, we investigated the modulatory roles of collagen I on human immortalized keratinocytes HaCaT, especially when cells were irradiated with UVB. Interestingly, the cells grown on plates coated by molecular collagen I, but not fibrillar collagen I, acquired certain resistance against UVB damages, as shown by increased survival and reduced apoptosis.

Heterogeneous decision-making dynamics of threshold-switching agents on complex networks.

In the classical two-player decision-making scenario, individuals may have different tendencies to take a certain action, given that there exists a sufficient number of neighbors adopting a particular option. This is ubiquitous in many real-life contexts including traffic congestion, crowd evacuation, and minimal vertex cover problem. Under best-response dynamics, we investigate the decision-making behaviors of heterogeneous agents on complex networks.

Changes in Diversity and Composition of Rhizosphere Bacterial and Fungal Community between Resistant and Susceptible Pakchoi under .

() is a soil-born pathogen worldwide and can infect most cruciferous plants, which causes great yield decline and economic losses. It is not well known how microbial diversity and community composition change during infecting plant roots. Here, we employed a resistant and a susceptible pakchoi cultivar with and without inoculation with to analyze bacterial and fungal diversity using 16S rRNA V3-V4 and ITS_V1 regions, respectively.

Association between tea drinking and disability levels in older Chinese adults: a longitudinal analysis.

Objective: As the global population ages, disability among the elderly presents unprecedented challenges for healthcare systems. However, limited research has examined whether dietary interventions like tea consumption may alleviate and prevent disability in older adults. As an important dietary therapy, the health benefits of tea drinking have gained recognition across research disciplines.

Comparative Transcriptome Analysis between Resistant and Susceptible Pakchoi Cultivars in Response to Downy Mildew.

Downy mildew caused by the obligate parasite is a devastating disease for species. Infection of often leads to yellow spots on leaves, which significantly impacts quality and yield of pakchoi. In the present study, we conducted a comparative transcriptome between the resistant and susceptible pakchoi cultivars in response to infection.

Multi-objective optimization of cortical bone grinding parameters based on particle swarm optimization.

Grinding is a fundamental operation in craniotomy. Suitable grinding parameters will not only reduce force damage, but also ensure grinding efficiency. In this study, the regression equations of material removal rate and grinding force were obtained based on the theory of cortical bone grinding and full factorial test results, a multi-objective optimization based on the particle swarm algorithm was proposed for optimizing the grinding parameters: spindle speed, feed speed, and grinding depth in the grinding process.

Spontaneous Separation of Immiscible Organic Droplets on Asymmetric Wedge Channels with Hierarchical Microchannels.

Spontaneous separation of immiscible organic droplets has substantial research implications for environmental protection and resource regeneration. Compared to the widely explored separation of oil-water mixtures, there are fewer reports on separating mixed organic droplets on open surfaces due to the low surface tension differences. Efficient separation of mixed organic liquids by exploiting the rapid spontaneous transport of droplets on open surfaces remains a challenge.

Evolutionary dynamics of N-player sender-receiver game in networks with community structure.

Network typology largely affects the evolutionary dynamics of collective behaviors in many real-world complex systems. As a conventional transmission model, the sender-receiver game paves the way to explore the evolution of honest signals between senders and receivers. In practice, the utilities of an agent often depend not only on pairwise interactions, but also on the group influence of players around them, and thus there is an urgent need for deeper theoretical modeling and investigations on individuals' non-pairwise interactions.

Integrated Transcriptome and Proteome Analysis Revealed the Regulatory Mechanism of Hypocotyl Elongation in Pakchoi.

Hypocotyl length is a critical determinant for the efficiency of mechanical harvesting in pakchoi production, but the knowledge on the molecular regulation of hypocotyl growth is very limited. Here, we report a spontaneous mutant of pakchoi, , and identified its characteristics. We found that it has an elongated hypocotyl phenotype compared to the wild type caused by the longitudinal growth of hypocotyl cells.

Prominent Josephson tunneling between twisted single copper oxide planes of BiSrLaCuO.

Josephson tunneling in twisted cuprate junctions provides a litmus test for the pairing symmetry, which is fundamental for understanding the microscopic mechanism of high temperature superconductivity. This issue is rekindled by experimental advances in van der Waals stacking and the proposal of an emergent d+id-wave. So far, all experiments have been carried out on BiSrCaCuO (Bi-2212) with double CuO planes but show controversial results.

Pro‑angiogenic activity of salvianolate and its potential therapeutic effect against acute cerebral ischemia.

Salvianolate (Sal) is a medicinal composition that is widely used in China for the treatment of coronary heart disease and angina pectoris. The aim of the present study was to investigate the potential macrophage-mediated pro-angiogenic effects of Sal . In addition, another aim was to explore the effects of Sal in a rat model of transient middle cerebral artery occlusion (tMCAO) along with the potential mechanism by which it promotes angiogenesis.

Drying Acoustically Levitated Droplets as Signal-Amplifying Platforms for Ultrasensitive and Multimode Laser Sensing.

Ultrasensitive sensing to trace atomic and molecular analytes has gained interest for its intimate relation to industrial sectors and human lives. One of the keys to ultrasensitive sensing for many analytical techniques lies in enriching trace analytes onto well-designed substrates. However, the coffee ring effect, nonuniform distribution of analytes onto substrates, in the droplet drying process hinders the ultrasensitive and stable sensing onto the substrates.

Multi-pathway neuroprotective effects of a novel salidroside derivative SHPL-49 against acute cerebral ischemic injury.

SHPL-49 ((2R,3S,4S,5R,6R)-2-(hydroxymethyl)-6-(4-(4-methoxyphenyl) butoxy) tetrahydro-2H-pyran-3,4,5-triol) is a novel glycoside derivative obtained from structural modification of salidroside, which is isolated from the medicinal plant Rhodiola rosea L. SHPL-49 was administered to rats with permanent middle cerebral artery occlusion (pMCAO) for 5 days, and it was found that SHPL-49 could alleviate the cerebral infarct volume and reduce the neurological deficit score. Moreover, the effective time window of SHPL-49 in the pMCAO model was from 0.