Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.

Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.

Association between triglyceride glucose index-related indices and kidney stones in adults based on NHANES 2007-2020.

Background: The triglyceride-glucose (TyG) index and related indices, including the triglyceride-glucose body mass index (TyG-BMI), triglyceride-glucose waist circumference (TyG-WC), and triglyceride-glucose waist-to-height ratio (TyG-WHtR), are increasingly recognized as valuable markers of insulin resistance (IR). This study aimed to assess the associations between these TyG-related indices and kidney stones.

Methods: This cross-sectional study analyzed data from 10,824 participants obtained from the National Health and Nutrition Examination Survey (NHANES) conducted between 2007 and 2020.

The microbial communities and metabolic profiles of follicular fluid in patients with premature ovarian insufficiency.

Introduction: Premature ovarian insufficiency (POI) is a condition characterized by ovarian dysfunction occurring before the age of 40, and its etiology is multifactorial, including genetic, immunological, infectious, environmental, and iatrogenic factors, with over half of the cases remaining unexplained. Whether the microbial communities and metabolites in follicular fluid, which is the direct microenvironment for oocyte survival, are related to POI has not been reported.

Methods: In this study, Follicular fluid samples of 26 patients with POI and 27 controls with a normal ovarian reserve were collected and analyzed using 16S rDNA sequencing and untargeted metabolomics.

Case report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.

Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.

Association of Infection with Pediatric Asthma in Palestine.

Purpose: Significant debate exists on the association between infection and childhood asthma. We aimed to explore this association in a cohort of children in Palestine while estimating the prevalence of in this population.

Methods: We conducted a prospective case-control study among children aged 6-15 years in Palestine, including 44 asthma cases diagnosed by pediatric pulmonologists and 99 age-matched healthy controls recruited through cluster sampling from schools.

Platelet Count at Diagnosis Is Associated with Endoscopic Activity in Pediatric Patients with Crohn's Disease.

Purpose: We aimed to evaluate the association between platelet count and endoscopy activity in pediatric patients with Crohn's disease (CD).

Methods: This single center retrospective study included children and adolescents aged <19 years who were newly diagnosed with CD. Comparison of baseline characteristics at diagnosis between two groups divided according to the presence and absence of thrombocytosis were conducted.

Impact of a New Preoperative Immune-Nutrition Protocol Using Zinc on Hospital Outcomes of Children with Hirschsprung's Disease: A Novel Randomized Controlled Trial.

Purpose: Research proved the beneficial effect of Zinc on human health and Gastrointestinal tract inflammatory diseases. We propose that zinc would be of value in children with Hirschsprung's disease (HD) undergoing elective pull-through surgery. This study was carried out to determine the influence of preoperative zinc intake on postoperative outcomes, especially the hospital length of stay in patients diagnosed with HD as a primary outcome.

Significance and Related Factors of Infection in Children with Dyspepsia.

Purpose: is a Gram-negative bacterium that is associated with peptic ulcer disease (PUD) and gastric cancer. However, studies on the endoscopic finding and factors related to infection in children are lacking. This study aimed to evaluate the prevalence and factors associated with infection in children with dyspepsia.

Detection of Eosinophilic Cell-free Granules Based on Expression of CCR3 and MBP Markers in Esophageal Biopsy Specimens of Patients with Suspected and Confirmed Eosinophilic Esophagitis.

Purpose: Eosinophilic esophagitis (EoE) is the most well-known eosinophilic gastrointestinal disorder (EGID) characterized by the presence of a high number eosinophils within the esophageal epithelium and the clinical signs. Biopsies of patients with suspected EoE may not show a high number of eosinophils, however the presence of granules may help with the diagnosis. This study aims to evaluate the presence of cell-free eosinophil granules in the esophageal tissue of patients with suspected and confirmed EoE to accelerate the diagnosis and treatment of patients with low eosinophil count.

Prevalence, consequences, and contributing factors beyond verbal and physical workplace violence against nurses in peripheral hospitals.

Background: Globally, nearly one-third of workplace violence (WPV) occurs in the health sector. Exposure to WPV among Jordanian nurses has been widely speculated to be underreported. Understanding of the factors contributing to WPV among nurses and their consequences is limited.

colonization and undernutrition in infants in rural eastern Ethiopia - a longitudinal community-based birth cohort study.

Background: is associated with environmental enteric dysfunction (EED) and malnutrition in children. infection could be a linchpin between livestock fecal exposure and health outcomes in low-resource smallholder settings.

Methods: We followed a birth cohort of 106 infants in rural smallholder households in eastern Ethiopia up to 13 months of age.

Developing a curriculum on antimicrobial stewardship for pediatric residents: a needs assessment.

Objective: Identify essential components of a curriculum on antimicrobial stewardship (AS) for pediatric residents.

Design: Survey.

Setting: Academic tertiary care children's hospital.

Comparison of sampling and culture methods for the recovery of yeast from hospital surfaces.

Objective: To compare the recovery of yeast from hospital surfaces from two different collection methods: Eswab moistened with molecular water, and premoistened stick-mounted sponge.

Design: Comparison of collection methods for the recovery of yeast in the hospital environment.

Setting: This study took place at intensive care units of a large academic medical center.

Predicting candidate biomarkers for COVID-19 associated with leukemia in children.

Since the COVID-19 pandemic, a significant number of pediatric leukemia patients have shown to have also contracted COVID-19 several weeks or months prior to the development of their cancer. Current research indicates the expression of MDA5, encoded by , is associated with increased immunity to COVID-19 in children. Children are also known to have a much lower risk of developing leukemia.

Predictors of irritability in pediatric autistic populations: a scoping review.

Introduction: Autism is characterized by social communication differences and repetitive behaviors, affecting 1%-2% of children. Irritability is a disabling condition affecting 19%-80% of autistic children. While extensive research has focused on interventions to reduce irritability symptoms, the underlying correlates remain poorly understood.

Comparison of a Virtual and in-Person OSCE on Advanced Communication Skills: Qualitative Insights from Medical Student Debrief Transcripts.

Objectives: This study investigates the differences between in-person versus virtual format of an advanced communication skills OSCE through thematic analyses of post-OSCE debrief transcripts.

Methods: Two cohorts of senior medical students participated in either a 2019 in-person or 2021 virtual advanced communication skills OSCE. Students were grouped in triads and rotated through three of five possible cases.

A narrative review focusing on randomized clinical trials of vitamin D supplementation for COVID-19 disease.

Current evidence is inconsistent on whether vitamin D supplementation can prevent COVID-19 infection or improve its clinical outcomes. To better understand and look into the issue, we went through the background knowledge of COVID-19 and vitamin D, searched in Pubmed [by using key words in the title containing "randomized clinical trial", "COVID-19", and "vitamin D (25-hydroxyvitamin D, or cholecalciferol, or calcidiol, or calcifediol) supplementation"] for publications of studies on vitamin D/supplementation in COVID-19 patients, especially those about the randomized clinical trials (RCTs). After reviewing these papers, we did a short background review of vitamin D and the pathophysiology of COVID-19, summarized the key features of the 25 RCTs in text and tabulated in a table of some of the features, commented, compared and discussed the differences between RCTs (for example, change the serum 25-hydroxyvitamin D concentration from nmol/L to ng/mL, making the comparison easier).

Spatially-resolved characterization of the metabolic and -glycan alterations in colorectal cancer using matrix-assisted laser desorption/ionization mass spectrometry imaging.

Colorectal cancer is the second leading cause of cancer-related deaths worldwide, and its development typically involves complex metabolic reprogramming. By mapping the spatial distributions of metabolites and -glycans in heterogeneous colorectal cancer tissues, we can elucidate cancer-associated metabolic and -glycan changes. Herein, we combine mass spectrometry imaging-based metabolomics and -glycomics to characterize the spatially resolved reprogramming of metabolites and -glycans in colorectal cancer tissues.

A novel LC-TQ-MS/MS method for quantifying mefenamic acid-NDSRI (N-nitroso drug substance-related impurity) in mefenamic acid tablet and pediatric suspension dosage forms: a comparative study with a cost-effective white, green, and blue UPLC method.

The current research presents novel LC-TQ-MS/MS and cost-effective UPLC methods intended for the accurate quantification of mefenamic acid-N-nitroso drug substance-related impurity-NDSRI (N-MFA) in mefenamic acid (MFA) tablet and pediatric suspension dosage forms. The acceptable intake of N-MFA is derived from the TD50 (Median Toxic Dose-50%) value of N-nitroso diphenylamine. The analytical separation was achieved for the UPLC method using an XBridge BEH Shield RP18 Column (150 × 3.

Effects of intranasal oxytocin on neural reward processing in children and adolescents with reactive attachment disorder: A randomized controlled trial.

Reactive attachment disorder (RAD) is associated with socially and emotionally withdrawn/inhibited behaviors and reduced neural responses to rewards. Children and adolescents with RAD show aberrant attachment behaviors, and existing psychotherapies are difficult to maintain; therefore, pharmacological interventions to aid and boost treatment responses are needed. Oxytocin (OT) administration is known to promote reward functioning.

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in gene and their correlation with the phenotypes of homocystinuria in Sri Lankan patients have not been reported to date. The objective of this study was to identify the genotypes and genotype-phenotype correlations in a cohort of Sri Lankan patients with homocystinuria due to CBS deficiency.

Area-Specific Assessment of Stratum Corneum Hydration and Transepidermal Water Loss in Pediatric Patients With Atopic Dermatitis.

SCORring atopic dermatitis (SCORAD) is widely used to assess the severity of atopic eczema, but score systems based on the entire body may be limited in effective monitoring and intervention. It is crucial to monitor moisture levels in each affected body part, but empirical research is still lacking. The objective of this study was to analyze the levels of stratum corneum hydration (SCH) and transepidermal water loss (TEWL) in atopic dermatitis (AD) patients, focusing on the presence and location of atopic lesions at different body sites.

Nanocarrier-mediated cancer therapy with cisplatin: .

Aims: Cisplatin is a frontline chemotherapeutic utilized to attenuate multiple cancers in the clinic. Given its side-effects, a new cisplatin formulation which could prevent cytotoxicity, metabolic deficiencies and metastasis is much needed. This study investigates whether nanocarriers can provide a better mode of drug delivery in preclinical cancer models seeking a potent anticancer therapeutic agent.

Outcomes and predictors of unplanned intensive care unit admission for pediatric trauma patients.

Background: Unplanned intensive care unit (ICU) admission (UIA) is associated with increased morbidity in adult trauma patients, however, is not well studied in pediatric trauma patients (PTPs). We sought to identify predictors of UIA, hypothesizing PTPs with UIA have increased odds of mortality.

Methods: The 2017-2019 Trauma Quality Improvement Program (TQIP) database was queried for PTPs ≤16-years-old admitted to non-ICU level of care.