Deletion of the SHORT Syndrome Gene Prkce Results in Brain Atrophy and Cognitive and Motor Behavior Deficits in Mice.

The neurological manifestations of SHORT syndrome include intrauterine growth restriction, microcephaly, intellectual disability, hearing loss, and speech delay. SHORT syndrome is generally believed to be caused by PIK3R1 gene mutations and impaired PI3K-AKT activation. Recently, a clinical case report described a SHORT syndrome with a novel mutant in PRKCE gene encoding protein kinase Cε (PKCε).

Investigating the Potential Effects of 6PPDQ on Clear Cell Renal Cell Carcinoma via Network Toxicology and Molecular Docking Analysis With In Vitro Experimental Validation.

N-(1,3-Dimethylbutyl)-N'-phenyl-p-phenylenediamine-quinone (6PPDQ), as a recently identified environmental toxicant, has garnered significant attention because of its widespread detection in ecosystems and human habitats. Emerging evidence highlights its potential detrimental effects on various organs. However, its carcinogenic potential remains poorly understood, particularly its role in clear cell renal cell carcinoma (ccRCC).

A rapid and ultrasensitive CRISPR/Cas12a-based assay for the accurate identification of T-even type phages.

Phage contamination poses a significant threat to industrial fermentation, leading to substantial economic losses. Virulent T-even type phages (T2/T4/T6) represent particularly concerning biological hazards in fermentation systems. This paper developed a novel CRISPR/Cas12a-based system integrated with recombinase polymerase amplification (RPA), enabling ultrasensitive identification of T-even type phages.

1.5-T MR imaging of organic laryngotracheal stenosis in a pediatric cohort predominantly younger than 7 years: protocol optimization and diagnostic performance.

Objective: To develop a 1.5-T MR imaging protocol tailored for organic laryngotracheal stenosis (LTS) and to assess its performance in visualizing anatomy and pathologies.

Materials And Methods: Presurgical laryngotracheal 1.

Ambient Ozone Exposure and Global Child Health: A Systematic Review of Epidemiological Studies.

Aim: Ozone is a photochemical pollutant, with exposure levels typically peaking during warm seasons in urban areas with intense sunlight and high traffic emissions. The rising annual average tropospheric ozone concentration risks children's health. This paper provided an in-depth overview of research on ambient ozone exposure and child health.

Association between mixed fatty acid emulsion and parenteral nutrition-associated cholestasis in extremely low-birth-weight infants: A retrospective cohort study.

Background: Soybean oil lipid emulsions have been implicated in the development of parenteral nutrition-associated cholestasis (PNAC) in premature infants. A recent mixed fatty acid emulsion containing soybean oil, medium-chain triglycerides (MCTs), olive oil, and fish oil may reduce the incidence of PNAC, but evidence remains conflicting. The aim of this study was to evaluate the effect of mixed fatty acid emulsion on PNAC in extremely low-birth-weight (ELBW) infants.

Assessing the Prognostic Accuracy of the PSS, pSOFA, and SIRS for In-Hospital Mortality in Children with Suspected Infection in Non-ICU Settings: A Multicenter Retrospective Study.

Objectives: To systematically compare the predictive accuracy of the Phoenix Sepsis Score (PSS), the Pediatric Sequential Organ Failure Assessment (pSOFA), and systemic inflammatory response syndrome (SIRS) in assessing in-hospital mortality risk among pediatric sepsis patients in non-ICU wards, thereby providing evidence-based support for clinical risk stratification.

Design: This study employed a multicenter retrospective cohort design, enrolling non-ICU pediatric patients with suspected infections (excluding preterm infants and neonates hospitalized immediately after birth), to construct an overall cohort and a neonatal subgroup cohort. Clinical parameters were collected through a data acquisition system, with parallel calculations of PSS, pSOFA, and SIRS scores.

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.

Background: UNC13D deficiency is the most common form of familial hemophagocytic lymphohistiocytosis (FHL) in Asia. Hypogammaglobulinemia is a rare phenotype observed in both patients with FHL3 and sporadic hemophagocytic lymphohistiocytosis (HLH). Our observations suggest that UNC13D deficiency with hypogammaglobulinemia presents a distinct clinical phenotype compared to other HLH patients.

Evaluating the causal effect of circulating proteome on the risk of Juvenile idiopathic arthritis: an omics pipeline study.

Background: Genome-wide association studies (GWAS) have pinpointed a multitude of risk loci associated with Juvenile Idiopathic Arthritis (JIA), but it is challenging to decipher novel plasma proteins. To address this, we applied an integrative omics pipeline to uncover novel proteins associated with JIA risk.

Methods: In this research, we utilized an integrative omics method to identify new plasma proteins associated with JIA.

Influences of inter-bubble interactions on ultrasonic cavitation dynamics and subharmonic emissions in viscoelastic media with nonlinear elasticity.

Ultrasonic cavitation in viscoelastic media is a physical process that features in a variety of chemical reactions, food processing, and biomedical applications due to a range of cavitation-associated physical, chemical, and biological effects. The cavitation effects are essentially caused by the dynamic behaviors of oscillating bubbles, which are strongly influenced by the complex and various inter-bubble interactions. However, how cavitation bubbles interact with each other and these interactions subsequently influence the ultrasonic cavitation dynamics and acoustic emissions in viscoelastic materials still remain poorly understood.

The value of intellectual structural imbalance in the differentiation of autism spectrum disorder and attention deficit hyperactivity disorder.

Background: The study delves into the intricate task of differentiating intellectual structures among children diagnosed with the high-functioning Autism Spectrum Disorder (HF-ASD), Attention Deficit Hyperactivity Disorder (ADHD), or comorbidity (ASD+ADHD), aiming to assist in their clinical differentiation, with the goal of refining clinical diagnoses and developing targeted therapeutic interventions.

Methods: The study included 200 outpatients aged 6.5-13.

Trends and Characteristics of Pertussis Epidemic in Pediatric Patients During and After the COVID-19 Pandemic in East China.

Background: Pertussis is a highly contagious respiratory disease caused by Bordetella pertussis, posing a significant health threat to children. Despite vaccination efforts, a resurgence of pertussis has been observed globally, especially during and after the COVID-19 pandemic. This study aims to investigate the epidemiological trends and characteristics of pertussis among pediatric patients during and after the COVID-19 pandemic in East China.

Combination of nucleated red blood cells and inflammatory biomarkers (PCT and CRP) for predicting sepsis and septic shock in children.

Introduction: Sepsis remains a leading cause of mortality and morbidity worldwide. This study aimed to investigate the clinical characteristics of children with sepsis and septic shock, with emphasis to evaluate the predictive value of C-reactive protein (CRP), procalcitonin (PCT), and nucleated red blood cell (NRBC) count in pediatric sepsis and septic shock patients.

Methods: We included a total of 121 children, including 80 with sepsis and 41 with septic shock, who were admitted to the Children's Hospital of Chongqing Medical University between January 2021 and June 2024.

Semiology and neurophysiology of clonic seizures in children: a retrospective study.

Objectives: To identify and quantify clonic seizures in children, we retrospectively reviewed the clinical symptoms and neurophysiology of them.

Methods: Data were obtained from 24 patients presenting with 34 clonic seizures, and their video-electroencephalography (EEG) recordings were examined for symptomatology and ictal EEG characteristics. Additionally, synchronous electromyography (EMG) data from 17 patients were analyzed.

Impact of fructooligosaccharides on gut microbiota composition and metabolite production: implications for childhood obesity.

Background: Contemporary dietary habits in children have been linked to various health issues, particularly the increasing prevalence of childhood obesity. However, the complex relationship between children's diets, gut microbiota, and health outcomes remains incompletely understood. This study investigates the effects of fructooligosaccharides (FOS) on gut microbiota composition and metabolic processes in children, and explores their potential impact on pediatric health outcomes such as obesity and metabolic disorders.

Heliox preconditioning exerts pulmonary protection effects on neonatal acute respiratory distress syndrome by inhibiting oxidative stress and apoptosis.

Objective: This study aimed to investigate whether heliox preconditioning (HePC) alleviates neonatal acute respiratory distress syndrome (ARDS) by inhibiting oxidative stress and apoptosis, and to explore its potential mechanism.

Methods: Blood samples and bronchoalveolar lavage fluid (BALF) were collected from rat pups were randomly divided into control group, sham group, ARDS group, ARDS + CaMKII group, ARDS + CaMKII group, and ARDS + HePC group. We also investigated the role of CaMKII by manipulating its expression .

Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

Background: In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic mutations in the SP-C gene can compromise its structural integrity, thereby impairing its functional efficiency in surface tension modulation.

Method: A retrospective analysis was performed on 11 pediatric patients harboring SP-C gene mutations who were admitted to our medical center between June 2014 and June 2024.

Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.

Background: Screening and pre-symptomatic diagnosis in newborns allows early treatment of thalassemia and abnormal hemoglobin (Hb) disorders in childhood. However, there remains a lack of efficient methods to screen for hemoglobinopathies in newborns. This study aimed to establish a bottom-up mass spectrometry (MS)-based method for efficient screening of hemoglobinopathies in newborns using dried blood spot (DBS) samples.

Hippocampal subfield-specific alterations in post-stroke dementia with subcortical lesion.

The structural and functional characteristics of hippocampal subfields have been extensively studied in dementia, with findings indicating stronger associations with cognitive performance than those observed in the whole hippocampus (HP). However, the impact of post-stroke dementia (PSD) on the structural and functional connectivity between hippocampal subfields and cortical regions remains unclear. The objective of this study is to examine alterations in the functional and structural connectivity between hippocampal subfields and cortical regions in PSD.

To investigate the molecular mechanism and prognostic value of miR-551a in glioma based on bioinformatics.

Glioma represents the prevalent neoplasm type, distinguished by invasive growth and a significant rate of recurrence. This research investigates the prognostic significance and possible molecular mechanisms of miR-551a in gliomas, thereby offering a novel biomarker for gliomas treatment. This study selected 77 glioma patients and 52 craniocerebral injury patients from 2017 to 2023.

Exploiting targeted degradation of cyclins and cyclin-dependent kinases for cancer therapeutics: a review.

Cancer is characterized by abnormal cell proliferation. Cyclins and cyclin-dependent kinases (CDKs) have been recognized as essential regulators of the intricate cell cycle, orchestrating DNA replication and transcription, RNA splicing, and protein synthesis. Dysregulation of the CDK pathway is prevalent in the development and progression of human cancers, rendering cyclins and CDKs attractive therapeutic targets.

Association Between PNPLA3 Inhibition and Gout: A Drug Target Mendelian Randomization Study.

Patatin-like phospholipase domain-containing protein 3 (PNPLA3) plays a crucial role in metabolic dysfunction-related steatotic liver disease. ARO-PNPLA3 is a therapeutic agent designed to target PNPLA3, but its long-term effects remain uncertain. The objective of this study was to ascertain the impact of PNPLA3 inhibition on the risk of gout through Mendelian randomization.

Guiqi Yishen granule alleviates obstructive nephropathy-induced renal fibrosis by targeting PI3K/AKT signaling pathway.

Ethnopharmacological Relevance: Guiqi Yishen granule (GQYSG), a traditional Chinese medicine with a well-documented history in managing kidney diseases such as IgA nephropathy and diabetic nephropathy, has emerged as a potential therapeutic option for Obstructive nephropathy (ON).

Aim Of The Study: Obstructive nephropathy (ON) ranks as the third leading cause of CKD, yet effective treatments remain limited. This study aims to explore the therapeutic efficacy of GQYSG in alleviating ON-mediated renal fibrosis, identify the active compounds responsible for its beneficial effects, and elucidate the underlying mechanisms of action.