X-linked Deficiency in ELF4 in Females with Skewed X Chromosome Inactivation.

Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous for ELF4 mutations (c.

Simultaneous analysis of 7 key mevalonate pathway intermediates using liquid chromatography-orbitrap mass spectrometry.

The mevalonate (MVA) pathway is a central metabolic route that converts mevalonate into isoprenoids, which are of crucial significance in various cellular processes. As no systematic approach had been developed and validated for the simultaneous estimation of these intermediate metabolites within the MVA pathway. In this research, a method was developed for the concurrent determination of 7 key intermediate metabolites in the MVA pathway based on ultra-high performance liquid chromatography (UPLC) coupled with a quadrupole/electrostatic field orbitrap high-resolution mass spectrometry (HRMS).

Highly Stretchable Conductive Hydrogel-Based Flexible Triboelectric Nanogenerators for Ultrasensitive Tactile Sensing.

Wearable electronic devices have shown great application prospects in the fields of tactile sensing, electronic skin, and soft robots. However, the existing wearable electronic devices face limitations such as power supply challenges, lack of portability, and discomfort, which restrict their applications. The invention of triboelectric nanogenerators (TENGs) with dual functions of energy harvesting and sensing provides an innovative solution to address these issues.

Corrigendum: Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4 gain-of-function mutation.

[This corrects the article DOI: 10.3389/fimmu.2024.

Development of an AI model for predicting hypoxia status and prognosis in non-small cell lung cancer using multi-modal data.

Background: Prognosis prediction is crucial for non-small cell lung cancer (NSCLC) treatment planning. While tumor hypoxia significantly impacts patient outcomes, identifying hypoxic genomic markers remains challenging. This study sought to identify hypoxic computed tomography (CT) radiomic features and create an artificial intelligence (AI) model for NSCLC through the integration of multi-modal data.

A Moldable, Tough Mineral-Dominated Nanocomposite as a Recyclable Structural Material.

Flexible hybrid minerals, primarily composed of inorganic ionic crystal nanolines and a small amount of organic molecules, have significant potential for the development of sustainable structural materials. However, the weak interactions and insufficient crosslinking among the inorganic nanolines limit the mechanical enhancement and application of these hybrid minerals in high-strength structural materials. Inspired by tough biominerals and modern reinforced concrete structures, this study proposes introducing an aramid nanofiber (ANF) network as a flexible framework during the polymerization of calcium phosphate oligomers (CPO), crosslinked by polyvinyl alcohol (PVA) and sodium alginate (SA).

A predictive model for functional cure in chronic HBV patients treated with pegylated interferon alpha: a comparative study of multiple algorithms based on clinical data.

Background: A multivariate predictive model was constructed using baseline and 12-week clinical data to evaluate the rate of clearance of hepatitis B surface antigen (HBsAg) at the 48-week mark in patients diagnosed with chronic hepatitis B who are receiving treatment with pegylated interferon α (PEG-INFα).

Methods: The study cohort comprised CHB patients who received pegylated interferon treatment at Mengchao Hepatobiliary Hospital, Fujian Medical University, between January 2019 and April 2024. Predictor variables were identified (LASSO), followed by multivariate analysis and logistic regression analysis.

Dual-ligand engineered CoNi alloy/N-doped carbon nanotubes bifunctional ORR/OER electrocatalyst for long-lifespan rechargeable Zn-air batteries.

The development of carbon-encapsulated alloy catalysts, through a rational design that integrates highly active Me-N-C sites, is essential for improving the reaction kinetics of both oxygen reduction (ORR) and oxygen evolution reactions (OER). This advancement is pivotal for the progression of efficient rechargeable zinc-air batteries (RZABs). In this study, we investigates a CoNi alloy decorated N-doped carbon nanotube (CoNi-NCNT) electrocatalyst using a dual-ligand strategy.

Effects of Vitamins as Green Inhibitors on the Surface of Steel Bars in Chloride-Polluted Simulated Concrete Pore Solution: Experimental, Characteristic Analysis, and Theoretical Calculation.

This study evaluates the effects of vitamins B1 (VB1), B6 (VB6), B3 (VB3), and C (VC) as green corrosion inhibitors for steel bars in a chloride-polluted simulated concrete pore (SCP) solution. Electrochemical tests demonstrated that VB6 achieves the highest corrosion inhibition efficiency (IE%) of 92.86%, and the IE% of VB1 and VC are 91.

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4 gain-of-function mutation.

Background: WHIM syndrome is a rare, autosomal dominant inborn error of immunity characterized by warts, hypogammaglobulinemia, infection, and myelokathexis. It is caused mainly by heterozygous mutations at the C-terminus of the C-X-C chemokine receptor type 4 (CXCR4) gene.

Methods: We described the detailed clinical, genetic, immunological and treatment characteristic of four WHIM patients from a single Chinese family.

DYRK2 regulates epithelial-mesenchymal transition restriction in pancreatic cancer liver metastasis by inhibiting Twist.

Objectives: To explore the underlying variables and molecular pathways leading to pancreatic cancer liver metastasis.

Methods: Hs766T and Hs766T-L3 cells were used to create in vitro and in vivo pancreatic cancer liver metastasis models. DYRK2 involvement in pancreatic cancer metastasis was investigated using cell adhesion assays, wound healing assays, and migration and invasion assays.

Wiskott-Aldrich syndrome protein maintains regulatory T cell tolerance by modulating their surface IL-2 receptor levels.

Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency condition caused by ablation of functional WAS protein (WASP) expression, and associated with susceptibility to infections, eczema, and autoimmunity. Regulatory T cell (Treg) defects are an important cause of autoimmunity in WAS. Currently, the mechanisms underlying cytoskeleton involvement in Treg-regulated autoimmunity remain unclear, and WAS is an excellent model for investigation of this question.

Combined fibrinogen concentration and neutrophil-to-lymphocyte ratio, an integrative model of the inflammatory response and coagulation cascades, for predicting prognosis in patients with upper tract urothelial carcinoma.

Inflammation and coagulation cascades are closely correlated with cancer occurrence and progression. This study investigated the prognostic value of the combination of plasma fibrinogen level and neutrophil-to-lymphocyte ratio (F-NLR) in patients with upper tract urothelial carcinoma (UTUC). The predictive ability of the F-NLR for overall survival (OS), cancer-specific survival (CSS), and progression-free survival (PFS) was initially established and then further validated in patients who underwent radical nephroureterectomy (RNU) for UTUC.

DeepGR: a deep-learning prognostic model based on glycolytic radiomics for non-small cell lung cancer.

Background: Glycolysis proved to have a prognostic value in lung cancer; however, to identify glycolysis-related genomic markers is expensive and challenging. This study aimed at identifying glycolysis-related computed tomography (CT) radiomics features to develop a deep-learning prognostic model for non-small cell lung cancer (NSCLC).

Methods: The study included 274 NSCLC patients from cohorts of The Second Affiliated Hospital of Soochow University (SZ; n=64), the Cancer Genome Atlas (TCGA)-NSCLC dataset (n=74), and the Gene Expression Omnibus dataset (n=136).

Quality problems in clinical practice guidelines and guideline appraisal studies: Should we tolerate or eradicate?

Background: Appraisal of Guidelines for Research and Evaluation (AGREE) II instrument have been widely used by scholars around the world to assess the methodological quality of clinical practice guidelines (CPGs). We sought to identify items or domains that are commonly scored low in the assessment, and to systematically review the issues that emerged when evaluators used the AGREE II tool for guideline quality assessment.

Methods: A systematic search was conducted to identify articles published in medically relevant databases from 2022 to 2023 regarding the use of the AGREE II tool for the assessment of CPGs.

A 16-year evaluation of opportunistic lung cancer screening with low-dose CT in China: comparative findings between non-smokers and smokers.

Background: Although low-dose computed tomography (LDCT) screening effectively reduces LC mortality in high-risk individuals with a history of smoking in China, the feasibility and efficacy of lung cancer screening (LCS) in individuals who never smoked versus individuals who smoked remains unclear.

Methods: We conducted a retrospective analysis of prospective cohort studies at the National Cancer Center (NCC) in China from January 2006 to December 2022. A comprehensive LCS initiative was undertaken, involving 30,468 participants (54.

Triboelectric Nanogenerator for Self-Powered Gas Sensing.

With the continuous acceleration of industrialization, gas sensors are evolving to become portable, wearable and environmentally friendly. However, traditional gas sensors rely on external power supply, which severely limits their applications in various industries. As an innovative and environmentally adaptable power generation technology, triboelectric nanogenerators (TENGs) can be integrated with gas sensors to leverage the benefits of both technologies for efficient and environmentally friendly self-powered gas sensing.

A reproducible murine model of studying HIV-associated brain damage in stroke.

Background: Emerging clinical and epidemiological data indicates that human immunodeficiency virus (HIV) is associated with an increased risk of stroke and aggravated brain damage. We aimed to develop a reproducible murine model of photothrombotic-stroke with HIV infection that mimics the clinical situation.

Method: To evaluate the impact of HIV infection on stroke, male C57BL/6 mice were infected with EcoHIV (p24 2-4 × 10/mouse; i.

Facile Synthesis of Aptamer-Functionalized Polydopamine-Coated Magnetic Graphene Oxide Nanocomposites for Highly Efficient Purification of His-Tagged Proteins.

Recombinant proteins hold significant importance in numerous disciplines. As the demand for expressing and purifying these proteins grows, the scientific community is in dire need of a simple yet versatile methodology that can efficiently purify these proteins. Aptamers as synthetic nucleic acid-based ligands with high affinity have shown promise in this regard, as they can capture targets through molecular recognition.

Deep learning model based on primary tumor to predict lymph node status in clinical stage IA lung adenocarcinoma: a multicenter study.

Objective: To develop a deep learning model to predict lymph node (LN) status in clinical stage IA lung adenocarcinoma patients.

Methods: This diagnostic study included 1,009 patients with pathologically confirmed clinical stage T1N0M0 lung adenocarcinoma from two independent datasets (699 from Cancer Hospital of Chinese Academy of Medical Sciences and 310 from PLA General Hospital) between January 2005 and December 2019. The Cancer Hospital dataset was randomly split into a training cohort (559 patients) and a validation cohort (140 patients) to train and tune a deep learning model based on a deep residual network (ResNet).

Inter-observer consistency on subsolid nodule follow-up recommendation based on National Comprehensive Cancer Network (NCCN) guidelines in low-dose computed tomography (LDCT) lung cancer screening.

Background: Follow-up management of pulmonary nodules is a crucial component of lung cancer screening. Consistency in follow-up recommendations is essential for effective lung cancer screening. This study aimed to assess inter-observer agreement on National Comprehensive Cancer Network (NCCN) guideline-based follow-up recommendation for subsolid nodules from low-dose computed tomography (LDCT) screening.

Quality Measurement of Consumer Health Questions: Content and Language Perspectives.

Background: Health information consumers increasingly rely on question-and-answer (Q&A) communities to address their health concerns. However, the quality of questions posted significantly impacts the likelihood and relevance of received answers.

Objective: This study aims to improve our understanding of the quality of health questions within web-based Q&A communities.