Integrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome.

Infantile Epileptic Spasms Syndrome (IESS) is a severe developmental epileptic encephalopathy that manifests in infancy, significantly impacting the health and quality of life of affected children. The treatment of IESS poses a significant challenge, primarily due to the incomplete understanding of its etiology and pathogenesis. Objective: This study aims to investigate the pathogenic mechanisms of IESS, utilizing metabolomics and proteomics analyses to uncover potential biomarkers for the disease, thereby providing new insights for diagnostic and therapeutic strategies.

[LIM and calponin homology domains 1 may function as promising biological markers to aid in the prognostic prediction of oral squamous cell carcinoma].

Objective: To explore the function of LIM and calponin homology domains 1 (LIMCH1) in the development and progression of oral squamous cell carcinoma (OSCC), along with their potential clinical applications.

Methods: By utilizing transcriptome sequencing data from two groups of oral squamous cell carcinoma patients, along with bioinformatics analytical techniques such as Gene Ontology (GO) and gene co-expression networks, we identified genes that might play a pivotal role in the pathogenesis of oral squamous cell carcinoma. We employed real-time quantitative PCR and Western blotting to validate the expression patterns of these genes across twelve patient tissue samples.

Pumpkin Soluble Dietary Fiber instead of Insoluble One Ameliorates Hyperglycemia via the Gut Microbiota-Gut-Liver Axis in db/db Mice.

Pumpkin extract has been shown to alleviate hyperglycemic symptoms by improving glucose metabolism disorders. However, the specific active components responsible for its hypoglycemic effects and the underlying molecular mechanisms remain unclear. In this study, db/db mice underwent a 4-week dietary intervention with two pumpkin flours (PF1 and PF2), total dietary fiber (TDF), soluble dietary fiber (SDF), and insoluble dietary fiber (IDF), with acarbose serving as a positive control.

Technological innovation of HoLEP: a multicenter, randomized, controlled study for the treatment of lower urinary tract symptoms secondary to benign prostatic hyperplasia.

Purpose: The purpose of this study was to investigate the efficacy of Transurethral Holmium Laser of the Prostate (HoLEP) with Double-n Technology in the treatment of benign prostatic hyperplasia (BPH), with a focus on preserving sexual function postoperatively.

Methods: Conducted as a multicenter, prospective, single-blind randomized controlled trial, this study enrolled sexually active male patients with BPH. Participants were randomized into three groups: standard HoLEP (Group A), single-n technology (Group B), and innovative double-n technology (Group C), which emphasizes the preservation of the urethral mucosa and nearby structures.

Association between serum homocysteine and erectile dysfunction: a systematic review and meta-analysis.

The aim of this meta-analysis was to determine the relationship between erectile dysfunction (ED) and serum homocysteine (Hcy) levels. A comprehensive search was performed using databases such as Web of Science, PubMed, and the Cochrane Library to identify suitable studies published by July 2023. The statistical analysis involved calculating the standardized mean differences (SMDs) and 95% confidence intervals (CIs) using STATA software.

Impact of Detrusor Muscle Activity on Short-term Prognosis Following 1470 nm Semiconductor Laser Surgery in Elderly Patients with Benign Prostatic Hyperplasia.

Objective: To investigate the influence of preoperative detrusor muscle activity on the short-term prognosis of elderly patients diagnosed with benign prostatic hyperplasia (BPH) undergoing 1470 nm semiconductor laser surgery.

Methods: A retrospective study was conducted on clinical data from 165 elderly BPH patients who underwent 1470 nm semiconductor laser surgery between May 2019 and April 2023. Patients were stratified based on preoperative urodynamic study findings, specifically their bladder contractility index (BCI).

The interaction of PRDX1 with Cofilin promotes oral squamous cell carcinoma metastasis.

Peroxiredoxin 1 (PRDX1) is an important member of the peroxiredoxin family (PRDX) and is upregulated in a variety of tumors. Previous studies have found that high PRDX1 expression is closely related to the metastasis of oral squamous cell carcinoma (OSCC), but the specific molecular mechanism is elusive. To elucidate the role of PRDX1 in the metastasis process of OSCC, we evaluated the expression of PRDX1 in OSCC clinical specimens and its impact on the prognosis of OSCC patients.

[Nonalcoholic fatty liver disease and risk of erectile dysfunction: A bidirectional two-sample mendelian randomization study].

Unlabelled: Objective：The purpose of this study was to explore the causal relationship between nonalcoholic fatty liver disease (NAFLD) and the risk of erectile dysfunction (ED) by using two-sample Mendelian randomization (MR) analysis.

Methods: Single nucleotide polymorphisms (SNPs) were screened as instrumental variables (IVs) using the public genome-wide association study summary data set (GWAS). Univariate MR, bidirectional MR and multivariate MR methods were used to analyze the causal relationship between NAFLD and ED.

1470 nm laser is better for prostate hyperplasia treatment with different volume size via transurethral enucleation.

Introduction: The large amount of intraoperative bleeding and the high incidence of postoperative hematuria are still common factors affecting the prostate surgery treatment effect. Our research aimed to observe the effect of prostatic enucleation using 1,470 nm semiconductor laser on the amount of bleeding in patients with different sizes of prostate hyperplasia.

Methods: According to the size of the prostate, forty eligible patients with benign prostatic hyperplasia (BPH) were enrolled and divided into low and high volume group in this study.

[PKEP with complete preservation of the urethral mucosa in the 11－1 o'clock position improves urinary continence and protects erectile function in BPH patients].

Objective: To evaluate the effect of transurethral plasmakinetic enucleation of the prostate (PKEP) with complete preservation of the urethral mucosa in the 11－1 o'clock position on urinary continence and erectile function in BPH patients.

Methods: We retrospectively analyzed the clinical data on 84 cases of BPH treated by traditional PKEP (group A, n = 48) or modified PKEP with complete preservation of the urethral mucosa in the 11－1 o'clock position (group B, n = 36) from January 2017 to December 2021. All the patients had sexual activities within three months preoperatively.

[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].

Objective: To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS).

Methods: Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents.

IgNAR characterization and gene loci identification in whitespotted bamboo shark (Chiloscyllium plagiosum) genome.

Single domain antibodies (sdAb) are promising candidates in cancer and anti-virus biotherapies for their unique structure characters. Though VHH and IgNAR have been discovered in camelidae and nurse shark (Ginlymostoma cirratum) respectively serval decades ago, expense of these large animals still limits the studies and applications of sdAb. Recently, IgNAR has been found in whitespotted bamboo shark (Chiloscyllium plagiosum), a small-sized sharks, while how to characterize and achieved the IgNAR of whitespotted bamboo shark is still unclear.

Interactive responses of root and shoot of camphor tree ( L.) to asymmetric disturbance treatments.

Plant root and shoot growth are closely interrelated, though the connotation of root-shoot balance should not be limited to their connectivity in biomass and physiological indicators. Their directional distribution of mass in architecture and the resulting root-shoot interactions are the keys to understanding the dynamic balance of the below- and above-ground organs related to tree anchorage. This study focuses on the 4-year-old camphor tree ( L.

Prenatal exposure to antibiotics and risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis.

Background And Purpose: A growing body of research suggests that inflammation and maternal infections may lead to an increased risk of neurodevelopmental problems such as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), cerebral palsy (CP), and epilepsy in offspring. The aim of this study was to observe the connection between prenatal antibiotic exposure and the risk of these neurodevelopmental disorders in offspring.

Patients And Methods: A comprehensive search was conducted in the Cochrane Central Register of Controlled Trials (CENTRAL), PubMed, Google Scholar, and Scopus databases for observational studies that looked into the link between prenatal exposure to antibiotics and the risk of neurodevelopmental problems in offspring, published from 1 January 1950 to 31 January 2022.

Optimization of Extraction and Quality Evaluation of Abri Herba by Response Surface Methodology Combined with Quantitative Analysis of Multi-Components by a Single Marker.

Background: Abri Herba (AH) is a famous medicinal and edible traditional Chinese medicine, which is usually used for liver disease. To date, few studies have been conducted on the ultrasonic extraction (UAE) process for AH and the application of quality analysis of multi-components by the single-marker (QAMS) method to evaluate the quality.

Objective: To optimize the UAE process for AH, and develop and validate the quality evaluation of AH by the QAMS method.

Krüppel-like factor 5 promotes the progression of oral squamous cell carcinoma via the baculoviral IAP repeat containing 5 gene.

Background: Krüppel-like factor 5 (KLF5) is highly expressed in a variety of tumors, and our study aimed to investigate the role of KLF5 in oral squamous cell carcinoma (OSCC).

Methods: To explore the differential expression of KLF5, next-generation sequencing (NGS) and further analyses were conducted in paired premalignant and tumor tissues and adjacent normal mucosa. We then analyzed the mRNA expression data from The Cancer Genome Atlas (TCGA) and performed gene set enrichment analysis (GSEA) to predict the function of KLF5.

Azoxystrobin induces apoptosis PI3K/AKT and MAPK signal pathways in oral leukoplakia progression.

Oral leukoplakia (OLK) is one of the oral potentially malignant disorders (OPMDs) with an increased risk of developing oral squamous cell carcinoma (OSCC). There is no ideal therapeutic drug yet. Our previous study showed azoxystrobin (AZOX) inhibited the viability of OLK cells and the incidence of mouse tongue cancer.

Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.

Background: Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal-onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first-line treatment with sodium channel blockers. Vitamin B6, either pyridoxine or pyridoxal 50-phosphate, has been demonstrated to improve seizure control in intractable epilepsy.

Methods: Here, we collected and summarized the clinical data for four independent cases diagnosed with pyridoxine-responsive epileptic encephalopathy, and their exome sequencing data.

Rare variant of TBL1XR1 in West syndrome: A case report.

Background: West syndrome (WS) is an epileptic encephalopathy (EE) that begins in children 4-7 months of age (in rare cases older than 2 years). To date, over 30 genes that have been reported to be related to WS. Reports involving the extremely rare pathogenic gene, transducin beta-like 1-X- linked receptor 1(TBL1XR1) are quite limited.

[De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report].

Objective: To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis.

Methods: Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed.

[Analysis of a case with Xia-Gibbs syndrome due to variant of AHDC1 gene].

Objective: To analyze the clinical and genetic characteristics of a child featuring Xia-Gibbs syndrome.

Methods: Whole exome sequencing was carried out for the child.

Results: The patient has presented with developmental delay, hypotonia, strabismus and snoring.

[Analysis of clinical features and ZBTB18 gene variant in a child with autosomal dominant mental disorder type 22].

Objective: To analyze the clinical characteristics and ZBTB18 gene variant in a child with epilepsy and global developmental delay.

Methods: Clinical data and laboratory examination of the patient were reviewed. Whole exome sequencing (WES) was also carried out for the family trio.

[Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66].

Objective: To explore the clinical phenotype and genetic characteristics of two children with developmental epileptic encephalopathy type 66.

Methods: Genomic DNA was extracted from peripheral blood samples of the two children and their parents. Whole exome sequencing (WES) was carried out and suspected variant was verified by Sanger sequencing.