Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.

Background: Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD.

Surface-mediated bacteriophage defense incurs fitness tradeoffs for interbacterial antagonism.

Bacteria in polymicrobial habitats are constantly exposed to biotic threats from bacteriophages (or "phages"), antagonistic bacteria, and predatory eukaryotes. These antagonistic interactions play crucial roles in shaping the evolution and physiology of bacteria. To survive, bacteria have evolved mechanisms to protect themselves from such attacks, but the fitness costs of resisting one threat and rendering bacteria susceptible to others remain unappreciated.

Common and Rare DUOX Variants in Patients with Congenital Hypothyroidism: Case-control Study and Family-based Analysis.

Context: Dual oxidases (DUOXs) are essential for thyroid hormone synthesis. Rare DUOX variations have been detected in patients with congenital hypothyroidism (CH); however, their mode of inheritance and genotype-phenotype correlations remain unclear. Additionally, no study has determined whether common DUOX variants confer a risk of CH.

Mitophagy Regulates Kidney Diseases.

Background: Mitophagy is a crucial process involved in maintaining cellular homeostasis by selectively eliminating damaged or surplus mitochondria. As the kidney is an organ with a high dynamic metabolic rate and abundant mitochondria, it is particularly crucial to control mitochondrial quality through mitophagy. Dysregulation of mitophagy has been associated with various renal diseases, including acute and chronic kidney diseases, and therefore a better understanding of the links between mitophagy and these diseases may present new opportunities for therapeutic interventions.

Hierarchical Ordered Mesoporous SrBiTiO Microflowers with Rich Oxygen Vacancies In Situ Assembled by Nanosheets for Piezo-Photocatalysis.

The Aurivillius phase layered perovskite ferroelectric material SrBiTiO (SBTO) exhibits spontaneous polarization and piezoelectric properties, which confer significant potential for piezo-photocatalysis. Its ability to enhance electron-hole separation while providing excellent fatigue resistance positions it as a promising candidate in this field. Defects were introduced to improve the structural polarization and photoelectrochemical properties of SBTO.

Combination of Structural Analysis and Proteomics Strategy Revealed the Mechanism of Ultrasound-Assisted Cold Plasma Regulating Shrimp Allergy.

Allergic incidents of crustacean aquatic products occur frequently, and tropomyosin (TM) is the main allergen. Therefore, it is worthwhile to develop technologies to efficiently reduce the allergenicity of TM. In this study, ultrasound-assisted cold plasma (UCP) treatment was used to regulate shrimp allergy.

Enhancing Ultrasonic Echo Response of AlN Thin Film Transducer Deposited by RF Magnetron Sputtering.

Accurate measurement of the pretightening stress for bolts has great significance for improving the assembly quality and safety, especially in severe environments. In this study, AlN thin film transducers were deposited on GH4169 nickel base alloy bolts using the RF magnetron sputtering, enabling a systematic investigation into the correlation between structures and the intensity of ultrasonic echo signals. Employing the finite element method resulted in consistency with the experimental data, enabling further exploration of the enhancement mechanism.

Hsc70 promotes anti-tumor immunity by targeting PD-L1 for lysosomal degradation.

Immune checkpoint inhibition targeting the PD-1/PD-L1 pathway has become a powerful clinical strategy for treating cancer, but its efficacy is complicated by various resistance mechanisms. One of the reasons for the resistance is the internalization and recycling of PD-L1 itself upon antibody binding. The inhibition of lysosome-mediated degradation of PD-L1 is critical for preserving the amount of PD-L1 recycling back to the cell membrane.

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.

X-linked hyper-immunoglobulin M (X-HIGM) syndrome and autosomal recessive hyper-immunoglobulin E syndrome (HIES) are rare inborn errors of immunity characterized by recurrent infections due to immune system impairment. In this study, we identified a novel hemizygous CD40 ligand (CD40L) mutation and compound heterozygous dedicator of cytokinesis-8 (DOCK8) mutations in two Han Chinese families with X-HIGM and HIES, respectively. We aimed to investigate the association between their genotypes and phenotypes.

Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China.

Background And Objective: Congenital hypothyroidism (CH) is indeed a prevalent neonatal endocrine disorder, affecting approximately 1 in 2000-3000 newborns worldwide, and 1 in 2400 newborns in China. Despite its high incidence, the genetic causes of CH, particularly those related to thyroid dysgenesis (TD), are still not well understood. However, previous studies have suggested that JAG1 may be a potential susceptibility gene for congenital thyroid defects.

High-Performance Single-Crystal Lithium-Rich Layered Oxides Cathode Materials via NaWO-Assisted Sintering.

Single-crystal lithium-rich layered oxides (LLOs) with excellent mechanical properties can enhance their crystal structure stability. However, the conventional methods for preparing single-crystal LLOs, require large amounts of molten salt additives, involve complicated washing steps, and increase the difficulty of large-scale production. In this study, a sodium tungstate (NaWO)-assisted sintering method is proposed to fabricate high-performance single-crystal LLOs cathode materials without large amounts of additives and additional washing steps.

Mechanism of Cold Plasma Combined with Glycation in Altering IgE-Binding Capacity and Digestion Stability of Tropomyosin from Shrimp.

Tropomyosin (TM) is a major crustacean allergen, and the present studies have tried to reduce its allergenicity by processing technologies. However, most research stopped on the allergenicity and structure of allergens, while information about epitopes was less. In this study, we first investigated the effects of cold plasma (CP) combined with glycation (CP-G) treatment on the processing and trypsin cleavage sites of TM from shrimp ().

ARIH1 activates STING-mediated T-cell activation and sensitizes tumors to immune checkpoint blockade.

Despite advances in cancer treatment, immune checkpoint blockade (ICB) only achieves complete response in some patients, illustrating the need to identify resistance mechanisms. Using an ICB-insensitive tumor model, here we discover cisplatin enhances the anti-tumor effect of PD-L1 blockade and upregulates the expression of Ariadne RBR E3 ubiquitin-protein ligase 1 (ARIH1) in tumors. Arih1 overexpression promotes cytotoxic T cell infiltration, inhibits tumor growth, and potentiates PD-L1 blockade.

What is the appropriate gravel size during ureteroscopy lithotripsy? An in vitro evaluation.

To propose the suitable diameter of calculus debris produced during flexible ureteroscopy lithotripsy (fURL). A glass tube was used to simulate the stone excretion process during Furl. Different stone diameters (0.

Changing the IgE Binding Capacity of Tropomyosin in Shrimp through Structural Modification Induced by Cold Plasma and Glycation Treatment.

Tropomyosin (TM) is the major allergen of shrimp (). Previous studies showed that separate cold plasma or glycation have their drawback in reducing allergenicity of TM, including effectiveness and reliability. In the current study, a new processing combining cold plasma (CP) and glycation was proposed and its effect on changing IgE binding capacity of TM from shrimp was investigated.

Comprehensive Analysis of the Structure and Allergenicity Changes of Seafood Allergens Induced by Non-Thermal Processing: A Review.

Seafood allergy, mainly induced by fish, shrimp, crab, and shellfish, is a food safety problem worldwide. The non-thermal processing technology provides a new method in reducing seafood allergenicity. Based on the structural and antigenic properties of allergenic proteins, this review introduces current methods for a comprehensive analysis of the allergenicity changes of seafood allergens induced by non-thermal processing.

Fire extinguishing performance and mechanism for several typical dry water extinguishing agents.

In this work, four new dry water fire extinguishing agents (FEAs) were prepared by hydrophobic SiO and aqueous solution under certain conditions. The dry water FEAs were developed and we conducted two types of fire extinguishing experiments (, class A solid fire and class B liquid fire test). Thermocouples and a color video camera were used to measure burning temperature and record the fire extinguishing process.

Acute pulmonary embolism and severe post thrombolysis renal bleeding, two deadly complications following mini-percutaneous nephrolithotomy: a rare case report.

Background: Acute pulmonary embolism and severe renal bleeding are two lethal postoperative complications, but there has been no report that involves both of them after mini-percutaneous nephrolithotomy.

Case Presentation: A 62-year-old woman was admitted to our hospital with extremely severe hydronephrosis and multiple right renal calculi. After thorough examination, she received prone-position mini-percutaneous nephrolithotomy under spinal anaesthesia.

Extraordinary p-d Hybridization Interaction in Heterostructural Pd-PdSe Nanosheets Boosts C-C Bond Cleavage of Ethylene Glycol Electrooxidation.

Advanced electrocatalysts for complete oxidation of ethylene glycol (EG) in direct EG fuel cells are strongly desired owing to the higher energy efficiency. Herein, Pd-PdSe heterostructural nanosheets (Pd-PdSe HNSs) have been successfully fabricated via a one-step approach. These Pd-PdSe HNSs feature unique electronic and geometrical structures, in which unconventional p-d hybridization interactions and tensile strain effect co-exist.

Lingual nerve injury caused by laryngeal mask airway during percutaneous nephrolithotomy: A case report.

Background: Lingual nerve injury (LNI) is a rare complication following the use of laryngeal mask airway (LMA). The occurrence of this unexpected complication causes uncomfortable symptoms in patients and worsens their quality of life. We present an unusual case of LNI caused by the use of an LMA in percutaneous nephrolithotomy (PCNL).

[Re discussion on arthroscopic repair of rotator cuff tear in aged patients].

Objective: To investigate the method and clinical effects of modified anchor insertion with single-row suture arthroscopic rotator cuff repair for aged patients with rotator cuff tear.

Methods: From March 2016 to February 2020, 96 aged patients with rotator cuff tears were retrospectively analyzed, including 29 males and 67 females, aged from 65 to 85 years, with a mean of (68.8±3.

[Comparison of intramedullary nail fixation following two step closed reduction or limited open reduction for femoral subtrochanteric fractures].

Objective: To compare clinical efficacy of intramedullary nail fixation following two-step closed reduction or limited open reduction for femoral subtrochanteric fractures.

Methods: Forty six patients with femoral subtrochanteric fractures were analyzed retrospectively from January 2014 to April 2020. Twenty four patients which including 16 males and 8 females, aged from 34 to 91 years old with an average of (55.

Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.

Thyroid dysgenesis (TD) accounts for 80% cases of congenital hypothyroidism, which is the most common neonatal disorder. Until now, the gene mutations have been reported associated with TD can only account for 5% cases, suggesting the genetic heterogeneity of the pathology. Nicotinamide nucleotide transhydrogenase (NNT) plays a crucial role in regulating redox homeostasis, patients carrying NNT mutations have been described with a clinical phenotype of hypothyroidism.

A Learning Sparrow Search Algorithm.

This paper solves the drawbacks of traditional intelligent optimization algorithms relying on 0 and has good results on CEC 2017 and benchmark functions, which effectively improve the problem of algorithms falling into local optimality. The sparrow search algorithm (SSA) has significant optimization performance, but still has the problem of large randomness and is easy to fall into the local optimum. For this reason, this paper proposes a learning sparrow search algorithm, which introduces the lens reverse learning strategy in the discoverer stage.