Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

Background: Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis.

MRI guided copper deprivator activated immune responses and suppressed angiogenesis for enhanced antitumor immunotherapy.

Copper plays an important role in the regulation of PD-L1, suggesting that reducing copper levels within tumors may enhance anti-cancer immunotherapy. Tumor microenvironment responsive copper nanodeprivator (TMECN) was developed for enhancing immunotherapy of tumor via the cross-link of mercaptopolyglycol bipyridine and dimercaptosuccinic acid modifying FePt nanoalloy using the disulfide bond. Upon entering tumor cells, the disulfide bond in TMECN is cleaved by the overexpressed glutathione, exposing abundance of sulfhydryl groups.

IGF1R Enhances Calcium Oxalate Monohydrate-Induced Epithelial-Mesenchymal Transition by Reprogramming Metabolism via the JAK2/STAT3 Signaling.

Kidney stone disease is a major risk factor for impaired renal function, leading to renal fibrosis and end-stage renal disease. High global prevalence and recurrence rate pose a significant threat to human health and healthcare resources. Investigating the mechanisms of kidney stone-induced injury is crucial.

Glucose-Responsive Zn(II)-Porphyrin COF Adhesive Hydrogels With Dual-Active Sites and GOX-Like Activity for Accelerated Wound Healing.

Effective glycemic control is paramount for optimal wound healing in diabetic patients. Traditional antibacterial and anti-inflammatory treatments, while important, often fall short in addressing the hyperglycemic conditions of diabetic wounds. Therefore, the development of novel therapeutic strategies for accelerating diabetic wound healing has garnered escalating attention.

[Research progresses in gene therapy for hepatolenticular degeneration].

Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea.

Conference 2024: Building an innovative scientific research ecosystem for microbiome and One Health.

The Conference 2024 provides a platform to promote the development of an innovative scientific research ecosystem for microbiome and One Health. The four key components - Technology, Research (Biology), Academic journals, and Social media - form a synergistic ecosystem. Advanced technologies drive biological research, which generates novel insights that are disseminated through academic journals.

The Effects of Seasonal Variation on the Outcomes of Patients Undergoing Off-Pump Coronary Artery Bypass Grafting.

Background: The impact of seasonal patterns on the mortality and morbidity of surgical patients with cardiovascular diseases has gained increasing attention in recent years. However, whether this seasonal variation extends to cardiovascular surgery outcomes remains unknown. This study sought to evaluate the effects of seasonal variation on the short-term outcomes of patients undergoing off-pump coronary artery bypass grafting (OPCABG).

Bone Mineral Density is Negatively Associated with Risk of All-Cause and Cardiovascular Mortality among Adults with Type 2 Diabetes Mellitus: A Cross-sectional Study of the NHANES 2005-2010, 2013-2014.

Background: With ageing and lifestyle changes, the coexistence of osteoporosis and type 2 diabetes (T2DM) is becoming more common, which greatly increases patient disability and mortality. However, the association of low bone mineral density (BMD) with cardiovascular disease (CVD) and all-cause mortality in T2DM patients have not been conclusively established.

Methods: Using the National Health and Nutrition Examination Survey (NHANES) to obtain a nationally representative sample of the US population, we sought to determine the independent and incremental value of low BMD, particularly in patients with osteoporosis in assessing all-cause and CVD mortality in adults with T2DM.

Lactate dehydrogenase to albumin ratio (LAR) is a novel predictor of fatal outcome in patients with SFTS: an observational study.

Background: Severe fever with thrombocytopenia syndrome (SFTS) is a serious infectious disease. This study explored the prognostic value of lactate dehydrogenase (LDH) to albumin (ALB) ratio (LAR) levels in fatal outcomes of the disease.

Methods: Two-hundred and nine patients with SFTS were enrolled in this study.

Efficacy evaluation of a minimally invasive surgical procedure (oblique lateral interbody fusion) for lumbar spinal tuberculosis-retrospective cohort study.

Objective: In the current study, to demonstrate the advantages of oblique lateral interbody fusion (OLIF), we focused on the therapeutics for lumbar spinal tuberculosis with the comparison of three treatments, including anterior approach, posterior approach, and OLIF combined with posterior percutaneous pedicle screw fixation.

Methods: This study included patients with lumbar spinal tuberculosis from July 2015 to June 2018. We divided these patients into three groups: 35 patients underwent an anterior-only approach (Group A), 36 patients underwent a posterior-only approach (Group B), and 31 patients underwent OLIF combined with posterior percutaneous pedicle screw fixation (Group C).

Alarmins and their pivotal role in the pathogenesis of spontaneous abortion: insights for therapeutic intervention.

Alarmins are a class of molecules released when affected cells damaged or undergo apoptosis. They contain various chemotactic and immunomodulatory proteins or peptides. These molecules regulate the immune response by interacting with pattern recognition receptors (PRRs) and play important roles in inflammatory response, tissue repair, infection defense, and cancer treatment.

A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.

Background: Variants in the GABRA2 gene, which encodes the α2 subunit of the γ-aminobutyric acid A receptor, have been linked to a rare form of developmental and epileptic encephalopathy (DEE) referred to as DEE78. Only eight patients have been reported globally. This study presents the clinical presentation and genetic analysis of a Chinese family with a child diagnosed with DEE78, due to a novel GABRA2 variant.

AKR1B10 and digestive tumors development: a review.

Aldo-keto reductase family 1 member B10 (AKR1B10) is a member of the AKR1B subfamily. It is mainly found in cytoplasm, and it is typically expressed in the stomach and intestines. Given that its expression is low or absent in other tissues, AKR1B10 is a potential diagnostic and therapeutic biomarker for various digestive system diseases.

Crispr-Cas9-based long non-coding RNA interference and activation identified that the aberrant expression of Myc-regulated ST8SIA6 antisense RNA 1 promotes tumorigenesis and metastasis in hepatocellular carcinoma.

Objective: Long non-coding RNAs (lncRNAs) participate in the formation, progression, and metastasis of cancer. This study aimed to explore the roles of the lncRNA ST8SIA6 antisense RNA 1 (ST8SIA6-AS1) in tumorigenesis and elucidate the underlying molecular mechanism of its upregulation in hepatocellular carcinoma (HCC).

Material And Methods: A total of 56 in-house pairs of HCC tissues were examined, and ST8SIA6-AS1 levels were determined through real-time polymerase chain reaction (PCR).

Effects of Extracellular Matrix Changes Induced by a High-Fat Diet on Gallbladder Smooth Muscle Dysfunction.

Background: Gallstone formation is a common digestive ailment, with unclear mechanisms underlying its development. Dysfunction of the gallbladder smooth muscle (GSM) may play a crucial role, particularly with a high-fat diet (HFD). This study aimed to investigate the effects of an HFD on GSM and assess how it alters contractility through changes in the extracellular matrix (ECM).

Machine Learning Reveals Aneuploidy Characteristics in Cancers: The Impact of BEX4.

Background: Aneuploidy is crucial yet under-explored in cancer pathogenesis. Specifically, the involvement of brain expressed X-linked gene 4 () in microtubule formation has been identified as a potential aneuploidy mechanism. Nevertheless, 's comprehensive impact on aneuploidy incidence across different cancer types remains unexplored.

Examining the effects of psychological resilience and wellbeing on perceived stress and depressive symptoms among undergraduate nursing interns: testing a moderated mediation model.

Background: Perceived stress is recognized as a significant risk factor for depressive symptoms, while psychological resilience and wellbeing are considered crucial protective factors. However, the intricate relationships among these variables in undergraduate nursing interns remain largely unexplored. This study aims to investigate the mediating role of psychological resilience in the relationship between perceived stress and depressive symptoms, as well as the moderating influence of wellbeing on this mediation.

Long noncoding RNA LINC01106 promotes lung adenocarcinoma progression via upregulation of autophagy.

Background: Long noncoding RNA, LINC01106 exhibits high expression in lung adenocarcinoma (LUAD) tumor tissues, but its functional role and regulatory mechanism in LUAD cells remain unclear.

Methods: LINC01106 expression was analyzed in LUAD tissues and its functional impact on LUAD cells was assessed. LUAD cells were silenced with sh-LINC01106 and injected into nude mice to investigate tumor growth.

Long-term survival and risk factors in esophageal squamous cell carcinoma: A Kaplan-Meier and cox regression study.

Background: The global incidence of esophageal cancer (EC) remains high. Despite advancements in medical technology and deeper research into the causes and treatment methods of EC, the effectiveness of treatment for EC is still unsatisfactory. Therefore, it is crucial to address the urgent problem of improving the long-term survival rate of EC patients and providing personalized treatment.

Global burden of antimicrobial resistance in lower respiratory infections in 2021: a systematic analysis.

Objectives: The research aimed to provide a worldwide evaluation of antimicrobial resistance (AMR), focusing specifically on AMR related to lower respiratory infections (LRI).

Methods: The data were derived from the Global Antimicrobial Resistance Burden 2021 (GARB 2021). Two counterfactuals were utilized to estimate the deaths attributable to AMR and the deaths associated with AMR.

Sex-specific associations between maternal exposure to metal mixtures and fetal growth trajectories: A prospective birth cohort study.

Background: The associations of prenatal metals exposure with birth outcomes have been widely assessed. However, evidence on the associations between metal mixtures and fetal intrauterine growth trajectories is scarce.

Objectives: This study aimed to explore the associations of metal mixtures with fetal intrauterine growth trajectories overall and by sex.

Genetic polymorphism in β-site amyloid precursor protein-cleaving enzyme 1 affects the structure of medial temporal lobe and cognition in Alzheimer's disease: an exploratory study.

The β-site amyloid precursor protein-cleaving enzyme 1 (BACE1) gene polymorphism (rs638405) has been widely reported to be associated with Alzheimer's disease (AD) risk. However, studies on the relationship between BACE1 gene polymorphism (rs638405), brain volume, and cognition in AD patients remain scarce. To investigate the effect of genetic polymorphism in BACE1 on gray matter volume (GMV) and cognition in AD, this study recruited 111 cognitively unimpaired (CU) controls and 144 AD patients.

Deciphering a profiling based on multiple post-translational modifications functionally associated regulatory patterns and therapeutic opportunities in human hepatocellular carcinoma.

Background: Posttranslational modifications (PTMs) play critical roles in hepatocellular carcinoma (HCC). However, the locations of PTM-modified sites across protein secondary structures and regulatory patterns in HCC remain largely uncharacterized.

Methods: Total proteome and nine PTMs (phosphorylation, acetylation, crotonylation, ubiquitination, lactylation, N-glycosylation, succinylation, malonylation, and β-hydroxybutyrylation) in tumor sections and paired normal adjacent tissues derived from 18 HCC patients were systematically profiled by 4D-Label free proteomics analysis combined with PTM-based peptide enrichment.

Protein palmitoylation in hepatic diseases: Functional insights and therapeutic strategies.

Background: Liver pathologies represent a spectrum of conditions ranging from fatty liver to the aggressive hepatocellular carcinoma (HCC), as well as parasitic infections, which collectively pose substantial global health challenges. S-palmitoylation (commonly referred to as palmitoylation), a post-translational modification (PTM) characterized by the covalent linkage of a 16-carbon palmitic acid (PA) chain to specific cysteine residues on target proteins, plays a pivotal role in diverse cellular functions and is intimately associated with the liver's physiological and pathological states.

Aim Of Review: This study aims to elucidate how protein palmitoylation affects liver disease pathophysiology and evaluates its potential as a target for diagnostic and therapeutic interventions.

A narrative review of sleep and breast cancer: from epidemiology to mechanisms.

Breast cancer is the leading cause of cancer-related death and the most common cancer among women worldwide. It is crucial to identify potentially modifiable risk factors to intervene and prevent breast cancer effectively. Sleep factors have emerged as a potentially novel risk factor for female breast cancer.