Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.

Synthesis of nano cubic microstructure LiNiCoMnO cathode materials rapid precipitation assisted with hydrothermal treatment.

In this work, a modified Ni-rich cathode material LiNiCoMnO with a unique nano cubic microstructure is successfully synthesized a rapid precipitation assisted with hydrothermal treatment. The formation of this distinctive microstructure is attributed to the homogeneous rapid precipitation in microreactor, which predominantly generates uniform crystal nuclei. The as-prepared material with nano-/microstructure shows superior initial reversible capacity (205.

The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.

Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by inborn errors of cytotoxicity. Patients with biallelic PRF1 null mutations (encoding perforin) usually develop excessive immune cell activation, hypercytokinemia, and life-threatening immunopathology in the first 6 months of life, often without an apparent infectious trigger. In contrast, perforin-deficient (PKO) mice only develop HLH after systemic infection with lymphocytic choriomeningitis virus (LCMV).

Case Report: Postoperative ascites: allergic reaction to the drainage tube in a 12-year-old patient.

Allergic reaction to the silicone is rare in children and as a result very little experience has been reported on symptom and treatment. We presented a case involving a child who experienced prolonged ascites following a surgery of placing an abdominal drainage tube, characterized by the ongoing drainage of clear, light-yellow fluid at a rate of 250 mL/day through the drainage tube for 36 days. Examination of the ascitic fluid revealed an abnormal elevation in eosinophil proportion, which exhibited positive response to anti-allergic treatment.

KDM4A facilitates neuropathic pain and microglial M1 polarization by regulating BDNF in a rat model of brachial plexus avulsion.

Background: Many patients with brachial plexus avulsion (BPA) suffer from neuropathic pain, but the mechanism remains elusive. Modifications of histones, the proteins responsible for organizing DNA, may play an important role in neuropathic pain. Lysine demethylase 4A (KDM4A), an essential component of histone demethylase, can modify the function of chromatin and thus regulate the vital gene expressions.

Preparation and Properties of NaHPO∙12HO/Silica Aerogel Composite Phase Change Materials for Building Energy Conservation.

In this paper, a morphologically stable composite phase change material (CPCM) suitable for use in the field of building energy conservation was developed using NaHPO∙12HO (DHPD) as the phase change material, NaSiO∙9HO (SSNH) as the nucleating agent, and silica aerogel (SA) as the carrier. The results showed that the incorporation of 25 wt% SA resulted in the as-prepared DHPD-SSNH/SA CPCM with a phase change temperature of 30.4 °C, an enthalpy of 163.

NEDD4 Knockdown Suppresses Human Endometrial Stromal Cell Growth and Invasion by Regulating PTGS2-Mediated Ferroptosis in Endometriosis.

Background: Endometriosis (EM) is a gynecological disease characterized by the benign growth of endometrial tissue outside the uterus. Upregulation of neuronally expressed developmentally downregulated 4 (NEDD4) has been reported to accelerate endometrial cancer progression.

Objectives: We explored whether abnormal expression of NEDD4 is correlated with EM.

Typical Tire Additives in River Water: Leaching, Transformation, and Environmental Risk Assessment.

Tire wear particles (TWPs) released during vehicle driving can enter water bodies, leading to leaching of tire additives (TAs) in aquatic environments. However, the transformation behavior and related ecological impacts of TAs and their transformation products (TPs) remain unclear. In this study, laboratory-based simulation experiments and field investigations were conducted to explore the transformation mechanisms and ecological risks of TAs.

FUT6 Suppresses the Proliferation, Migration, Invasion, and Epithelial-Mesenchymal Transition of Esophageal Carcinoma Cells via the Epidermal Growth Factor Receptor/Extracellular Signal-Regulated Kinase Signaling Pathway.

Esophageal cancer (ESCA) is a high-incidence disease worldwide, of which the 5-year survival rate remains dismal since the cellular basis of ESCA remains largely unclear. Herein, we attempted to examine the manifestation of fucosyltransferase-6 (FUT6) in ESCA and the associated mechanisms. The GSE161533 dataset was used to analyze a crucial gene in ESCA.

Ferroptosis Regulated by 5-HT3a Receptor via Calcium/Calmodulin Signaling Contributes to Neuropathic Pain in Brachial Plexus Avulsion Rat Models.

Neuropathic pain is a prevalent complication following brachial plexus avulsion (BPA). Ferroptosis has been implicated in various nervous system disorders. However, the association between ferroptosis and neuropathic pain induced by BPA remains unclear.

Development of land use regression, dispersion, and hybrid models for prediction of outdoor air pollution exposure in Barcelona.

Background: Air pollution is the leading environmental risk factor for health. Assessing outdoor air pollution exposure with detailed spatial and temporal variability in urban areas is crucial for evaluating its health effects.

Aim: We developed and compared Land Use Regression (LUR), dispersion (DM), and hybrid (HM) models to estimate outdoor concentrations for NO, PM, black carbon (BC), and PM (Fe, Cu, Zn) in Barcelona.

Separation of 2,3-Butanediol from Fermentation Broth via Cyclic and Simulated Moving Bed Adsorption Over Nano-MFI Zeolites.

The biomass-based platform molecule 2,3-butanediol (2,3-BDO) has a wide range of applications in production of sustainable fuels, chemicals, synthetic rubber, and others. However, the selective separation of 2,3-BDO from multicomponent fermentation broths presents challenges due to its low concentration, high solubility in water, high boiling point, and presence of many other species. Here, we demonstrate remarkably selective enrichment and recovery of 2,3-BDO from a corn stover hydrolysate fermentation broth by a pure-silica nano-MFI-type zeolite adsorbent.

Paclitaxel improves thrombopoiesis in the absence of thrombopoietin receptor (Mpl).

Background: Platelets are critical for thrombosis and hemostasis. The THPO-MPL pathway is the primary pathway for generating thrombocytes. Dysregulation of thrombopoiesis results in platelet formation and/or function-related disorders, such as thrombocytopenia.

Tonsillectomy Versus Tonsillotomy in Pediatric Sleep-Disordered Breathing: A Systematic Review and Multi-subgroup Meta-analysis.

Objectives: To evaluate the potential of tonsillotomy (TT) as an alternative to tonsillectomy (TE) for treating children with obstructive sleep-disordered breathing (oSDB).

Data Sources: Two independent reviewers searched PubMed, the Cochrane Library, Embase, and additional sources to identify controlled studies comparing TT versus TE in pediatric patients with oSDB.

Review Methods: We evaluated post-surgery symptom relief, and short- and long-term postoperative benefits for children.

Topological polymeric glucosyl nanoaggregates in scaffold enable high-density piscine muscle tissue.

Upon the pressure of conventional land agriculture and marine environment facing the future of human beings, the emerging of alternative proteins represented by cultured meat is expected with a breakthrough of efficient, safe and sustainable production. However, the cell proliferation efficiency and final myofiber density in current animal-derived scaffolds are still limited. Here, we incorporated five plant-derived edible polymeric glucosyl nanoparticles (GNPs) into gelatin/alginate hydrogels to spontaneously form nanoaggregates where nanotopographies were observed inside.

Chemosensory anhedonia facilitates depressive symptoms and cognitive impairment in late-life depression.

Aim: Chemosensory anhedonia refers to the lack of hedonic ability to experience pleasure through the senses of smell and taste, which reduces the pleasure and comfort of food, and increases the risk of nutritional and immune deficiencies. However, there is no direct scientific evidence regarding chemosensory anhedonia in patients with late-life depression (LLD). The aim of this study was to investigate chemosensory anhedonia in patients with LLD, and its potential association with depressive symptoms and cognitive function.

Interference with Histone Deacetylase 4 Regulates c-Jun N-terminal Kinase/Activating Protein-1 Signaling to Ameliorate Sepsis-induced Alveolar Epithelial Cell Injury.

Sepsis is a syndrome of systemic inflammatory response resulting from infection, which can lead to severe lung injury. Histone deacetylase 4 (HDAC4) is a key protein known to regulate a wide range of cellular processes. This study was designed to investigate the role of HDAC4 in lipopolysaccharide (LPS)-induced alveolar epithelial cell injury as well as to disclose its potential molecular mechanisms.

Overexpression of the Mas1 gene mitigated LPS-induced inflammatory injury in mammary epithelial cells by inhibiting the NF-κB/MAPKs signaling pathways.

Breast infection is the primary etiology of mastitis in dairy cows, leading to a reduction in the quality of dairy products and resulting in substantial economic losses for animal husbandry. Although antibiotic treatment can eliminate the pathogenic microorganisms that induce mastitis, it cannot repair the inflammatory damage of mammary epithelial cells and blood milk barrier. Mas1 is a G protein-coupled receptor, and its role in lipopolysaccharide (LPS) -induced inflammatory injury to mammary epithelial cells has not been studied.

IB1 Alleviates DSS-Induced Inflammatory Bowel Disease by Regulating the Microbiota and Restoring the Intestinal Epithelial Barrier.

Inflammatory bowel disease (IBD) is becoming an increasingly serious health problem in humans and animals. Probiotics can inhibit the development of IBD. Due to the specificity of the strains, the function and mechanism of action of different strains are still unclear.

Olfactory Dysfunction as a Marker for Cognitive Impairment in General Paresis of the Insane: A Clinical Study.

BACKGROUND General paresis of the insane (GPI) is characterized by cognitive impairment, neuropsychiatric symptoms, and brain structural abnormalities, mimicking many neuropsychiatric diseases. Olfactory dysfunction has been linked to cognitive decline and neuropsychiatric symptoms in numerous neuropsychiatric diseases. Nevertheless, it remains unclear whether patients with GPI experience olfactory dysfunction and whether olfactory dysfunction is associated with their clinical manifestations.

9-Hydroxy-8-oxypalmatine, a novel liver-mediated oxymetabolite of palmatine, alleviates hyperuricemia and kidney inflammation in hyperuricemic mice.

Ethnopharmacological Relevance: Palmatine is a main bioactive alkaloid of Cortex Phellodendri, which has been commonly prescribed for the treatment of hyperuricemia (HUA) in China. The metabolites of palmatine were crucial to its prominent biological activity. 9-Hydroxy-8-oxypalmatine (9-OPAL) is a novel liver-mediated secondary oxymetabolite of palmatine.