A case of X-Linked adrenoleukodystrophy caused by a novel mutation with singular clinical manifestation: unilateral lower limb weakness.

X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, leading to the accumulation of very long-chain fatty acids (VLCFAs) in plasma and tissues. It primarily affects the central nervous system white matter and the adrenal cortex. Clinical manifestations include myeloneuropathy, leukodystrophy, and adrenal insufficiency.

The deficiency of ALKBH5 contributes to hepatic lipid deposition by impairing VPS11-dependent autophagic flux.

Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease. Hepatic lipid deposition is a key factor in the development of NAFLD. N-methyladenosine (mA) modification, the most prevalent mRNA modification in eukaryotic cells, plays an important role in regulating hepatic lipid metabolism.

Multimodal investigation of dynamic brain network alterations in autism spectrum disorder: Linking connectivity dynamics to symptoms and developmental trajectories.

Background: Autism spectrum disorder (ASD) has been associated with disrupted brain connectivity, yet a comprehensive understanding of the dynamic neural underpinnings remains lacking. This study employed concurrent electroencephalography (EEG) and functional near-infrared spectroscopy (fNIRS) techniques to investigate dynamic functional connectivity (dFC) patterns and neurovascular characteristics in children with ASD. We also explored associations between neurovascular characteristics and the developmental trajectory of adaptive behavior in individuals with ASD.

Novel therapeutic targets for major depressive disorder related to oxidative stress identified by integrative multi-omics and multi-trait study.

Oxidative stress (OS) is strongly implicated in the pathophysiology of major depressive disorder (MDD) but the molecular mechanisms remain largely unknown. The purpose of this study is to identify genes related to both OS and MDD, and further to evaluate the utility of these genes as diagnostic markers and potential treatment targets. We searched datasets related to MDD from the Gene Expression Omnibus (GEO) database for differentially expressed genes (DEGs) also related to OS according to GeneCards.

Molecular insights and functional analysis of isocitrate dehydrogenase in two gram-negative pathogenic bacteria.

Klebsiella pneumoniae and Legionella pneumophila are common Gram-negative bacteria that can cause lung infections. The multidrug resistance of K. pneumoniae presents a significant challenge for treatment.

Regulating the Electronic Structure of Cu Single-Atom Catalysts toward Enhanced Electro-Fenton Degradation of Organic Contaminants via O and OH.

Heterogeneous electro-Fenton degradation with O and OH generated from O reduction is cost-effective for the removal of refractory organic pollutants from wastewater. As O is more tolerant to background constituents such as salt ions and a high pH value than OH, tuning the production of O and OH is important for efficient electro-Fenton degradation. However, it remains a great challenge to selectively produce O and improve the species yield.

Comprehensive analysis of PLATZ family genes and their responses to abiotic stresses in Barley.

Background: Plant A/T-rich protein and zinc-binding protein (PLATZ) transcription factors are pivotal regulators in various aspects of plant biology, including growth, development, and responses to environmental stresses. While PLATZ genes have been extensively studied and functionally characterized in various plants, limited information is available for these genes in barley.

Results: Here, we discovered a total of 11 PLATZ genes distributed across seven chromosomes in barley.

AR expression-independent XRCC3 mediates DNA damage-induced p53/Bax signaling pathway activation against prostate cancer.

Background: Androgen deprivation therapy (ADT) resistance is closely associated with altered AR status. Aberrant AR expression is critical for the induction of ADT resistance, necessitating the identification of an anti-PCa target independent of AR expression.

Methods: Transcriptomic data and clinical information of PRAD were obtained from TCGA database.

Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts.

Objective: N6-methyladenosine (mA) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in mA modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).

Methods: The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in mA modification genes and NSOCs risk in 944 case-parent trios.

Development of a COVID-19 early risk assessment system based on multiple machine learning algorithms and routine blood tests: a real-world study.

Backgrounds: During the Coronavirus Disease 2019 (COVID-19) epidemic, the massive spread of the disease has placed an enormous burden on the world's healthcare and economy. The early risk assessment system based on a variety of machine learning (ML) algorithms may be able to provide more accurate advice on the classification of COVID-19 patients, offering predictive, preventive, and personalized medicine (PPPM) solutions in the future.

Methods: In this retrospective study, we divided a portion of the data into training and validation cohorts in a 7:3 ratio and established a model based on a combination of two ML algorithms first.

A novel ZnO-TiO-BiWO/Carboxymethyl chitosan composite with high antimicrobial activity and visible-light catalytic degradation of ethylene towards banana preservation in hot and humid environments.

In order to solve the problem of significantly shortened storage time of bananas in hot and humid environment (e.g., 30 °C and 90 % relative humidity), this paper reports the preparation of ZnO-TiO-BiWO (ZTB) ternary heterojunction antimicrobial photocatalysts composite carboxymethyl chitosan film (ZTB/CMCS).

Efficacy and safety of intracavitary electrocardiography-guided peripherally inserted central catheters in pediatric patients: a systematic review and meta-analysis.

Objective: To assess the efficacy and safety of intracavitary electrocardiography (IC-ECG)-guided peripherally inserted central catheter (PICC) placements in pediatric patients, emphasizing improvements over traditional placement methods.

Methods: A literature search was conducted in April 2024 across PubMed, Cochrane Library, and EMBASE. Studies focusing on pediatric patients and reporting the efficacy and safety of IC-ECG-guided PICC placement the upper extremity were included.

Polysaccharides from Hua prevent depression-like behaviors in mice with chronic unpredictable mild stress through refining gut microbiota-lipopolysaccharide-paraventricular nucleus signal axis.

As natural polysaccharide cannot directly pass the blood-brain barrier, it is of potential importance to investigate the systemic anti-depression mechanisms of polysaccharides (PSP) from Hua, a well-known herbal medicine with the anti-depressant activity. Here, we explored the underlying mechanisms of effects of PSP on chronic unpredictable mild stress (CUMS)-induced depression-like behavior in mice from the perspective of the microbiota-gut-brain axis. The results demonstrated that PSP intervention for 14 days significantly improved CUMS-induced depressive-like behaviors.

Facial Amphiphile-Modified Lipids Highly Sensitize Liposomes toward Secretory Phospholipase A.

Upregulated secretory phospholipase A (sPLA) in tumors has been proposed as a stimulus to trigger drug release from liposomes for therapeutic effects. However, the current strategy for developing sPLA-responsive liposomes merely considering substrate preference suffers from limited membrane disruptive effects induced by enzymatic hydrolysis and safety issues resulting from the overuse of sPLA-preferred lipids. Here, a membrane-destabilizing mechanism based on enzymatic extraction and the transition of facial amphiphiles (FAs) within lipid membranes was introduced.