Primary adenoid cystic carcinoma of the rib with metastases: A rare case report and literature review.

Adenoid cystic carcinoma (ACC) is a rare and aggressive malignant tumour predominantly found in the salivary glands but can also occur elsewhere. Primary ACC in the bones is particularly rare, with most reports focusing on cases of ACC in the maxilla and mandible. This report presents a case of ACC in a 47-year-old man with a primary origin in the right rib region, a previously unreported location.

Innovative management strategies for addressing paediatric medical staff shortages in underdeveloped cities in developing countries.

Background: Paediatric professional scarcity and uneven distribution is acute in underdeveloped regions, exacerbated by COVID-19's workload surge and burnout, highlighting the need for strengthened prevention and response measures.

Aim: Propose an effective talent management model to address the challenge of paediatric medical personnel shortage and lack of management experience in Underdeveloped cities of developing countries.

Methods: A crisis management plan has been implemented in a paediatric hospital in Henan, China, with a talent framework to ensure a skilled, stable workforce.

Gender-specific association of multiple risk factors with neonatal moderate or severe hypoxic ischemic encephalopathy: a cross-sectional study.

Background: Neonatal hypoxic ischemic encephalopathy (HIE) leads to different degrees of neurological sequelae. The incidence of HIE is relatively high, and the causal pathways leading to HIE are still controversial. This study aimed to investigate the risk factors associated with HIE comparing differences between genders.

[Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene].

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

Methods: A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children's Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected.

Seroprevalence of IgG antibodies against pertussis toxin in the Chinese population: A systematic review and meta-analysis.

Pertussis is a vaccine-preventable infectious disease; however, data on pertussis antibody levels in a nationwide population are still limited in China. We aimed to pool the seropositivity rates of IgG antibodies against pertussis toxin (PT-IgG) across the country. We systematically searched PubMed, Web of Science, Embase, and the China National Knowledge Infrastructure Database for studies published between January 1, 2010, and June 30, 2023.

Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.

Purpose: Analyze the relationship between changes in the proportion of X-chromosome deletions and clinical manifestations in children with Turner syndrome (TS).

Methods: X-chromosome number abnormalities in 8,635 children with growth retardation were identified using fluorescence hybridization (FISH). Meanwhile, the relationship between the proportion of X-chromosome deletions and the clinical manifestations of TS, such as face and body phenotype, cardiovascular, renal, and other comorbidities in children with TS was analyzed.

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review.

CAPZA2 encodes the α2 subunit of CAPZA, which is vital for actin polymerization and depolymerization in humans. However, understanding of diseases associated with CAPZA2 remains limited. To date, only three cases have been documented with neurodevelopmental abnormalities such as delayed motor development, speech delay, intellectual disability, hypotonia, and a history of seizures.

Restoration of nNOS Expression Rescues Autistic-Like Phenotypes Through Normalization of AMPA Receptor-Mediated Neurotransmission.

Autism spectrum disorder (ASD) is associated with a range of abnormalities characterized by deficits in socialization, communication, repetitive behaviors, and restricted interests. We have recently shown that neuronal nitric oxide synthase (nNOS) expression was decreased in the basolateral amygdala (BLA) of mice after postnatal valproic acid exposure. Neuronal activity-regulated pentraxin (Narp) could contribute to the regulation of the GluA4 2-amino-3-(5-methyl-3-oxo-1,2-oxazol-4-yl) propanoic acid (AMPA) subunits which are predominantly expressed in interneurons.

Sagittal septum duplication of bladder and duplication of posterior urethra combined with congenital megacolon: a case report and literature review.

Background: Duplication of the bladder with duplication of the posterior urethra is a relatively rare congenital malformation. Cases of sagittal septum duplication of the bladder with duplication of the posterior urethra have rarely been reported. Furthermore, the combination thereof with congenital megacolon is rare.

[Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].

Objective: To explore the clinical characteristics and genetic variants in two children with Tuberous sclerosis complex (TSC).

Methods: Two children who had presented at the Children's Hospital Affiliated to Zhengzhou University respectively in June 2020 and July 2021 were selected as the study subjects. Clinical data of the children were collected, and potential pathogenic variants were screened by whole exome sequencing (WES).

[Analysis of CLCN4 gene variant in a child with Raynaud-Claes syndrome].

Objective: To analyze the clinical phenotype and genetic variant in a child with Raynaud-Claes syndrome (RCS).

Methods: A child who was diagnosed with RCS at the Children's Hospital Affiliated to Zhengzhou University for delayed language and motor development in August 2022 was selected as the study subject. Clinical data of the child were collected, and potential genetic variant was detected by next-generation sequencing and Sanger sequencing.

Neuroprotective Effects of CXCR2 Antagonist SB332235 on Traumatic Brain Injury Through Suppressing NLRP3 Inflammasome.

The inflammatory process mediated by nucleotide-binding oligomerization domain (NOD)-like receptor family pyrin domain comprising 3 (NLRP3) inflammasome plays a predominant role in the neurological dysfunction following traumatic brain injury (TBI). SB332235, a highly selective antagonist of chemokine receptor 2 (CXCR2), has been demonstrated to exhibit anti-inflammatory properties and improve neurological outcomes in the central nervous system. We aimed to determine the neuroprotective effects of SB332235 in the acute phase after TBI in mice and to elucidate its underlying mechanisms.

[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia].

Objective: To carry out Sanger sequencing for MMACHC gene variants among 65 Chinese pedigrees affected with combined methylmalonic aciduria and homocysteinemia, and summarize their genetic and clinical characteristics and prognosis.

Methods: Clinical characteristics of the 65 children identified with Methylmalonic acidemia and homocysteinemia at the Children's Hospital Affiliated to Zhengzhou University (Zhengzhou Children's Hospital) from April 2017 to April 2022 were selected as the study subjects. Potential variants of the MMACHC gene were detected by direct sequencing of the PCR products.

Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.

Epilepsy, a neurological condition, is widely prevalent among individuals with intellectual disability (ID). It is well established that N-methyl-D-aspartate (NMDA) receptors play an important role in both epilepsy and ID. Autosomal dominant mutations in the GRIN2B gene, which encodes the GluN2B subunit of the NMDA receptor, have been reported to be associated with epilepsy and ID.

Maternal and neonatal exposure to risk factors for neonates with moderate or severe hypoxic ischemic encephalopathy: a cross-sectional study.

Background: To investigate the association between maternal and neonatal exposure to the relevant influencing factors and risk of moderate or severe hypoxic ischemic encephalopathy (HIE), and the possible interactions in the Chinese population.

Methods: A cross-sectional study comprising 228 neonates from Henan Children's Hospital during the five-year period 2015-2020 in China was conducted. All neonatal basic demographic information and clinical records were documented from the neonatal HIE database.

Association between overweight, obesity and sleep duration and related lifestyle behaviors is gender and educational stages dependent among children and adolescents aged 6-17 years: a cross-sectional study in Henan.

Background: To investigate the associations between overweight, obesity and sleep duration and related lifestyle behaviors in children and adolescents at different gender and educational stages.

Methods: A cross-sectional study comprising 18723 children and adolescents with a stratified cluster sampling method of Henan Province was conducted in 2019. A self-reported questionnaire was used to collect the information about demographic characteristics as well as sleep and lifestyle behaviors.

Preoperative clinical-radiomics nomogram for microvascular invasion prediction in hepatocellular carcinoma using [Formula: see text]F-FDG PET/CT.

Purpose: To develop a clinical-radiomics nomogram by incorporating radiomics score and clinical predictors for preoperative prediction of microvascular invasion in hepatocellular carcinoma.

Methods: A total of 97 HCC patients were retrospectively enrolled from Shanghai Universal Medical Imaging Diagnostic Center and Changhai Hospital Affiliated to the Second Military Medical University. 909 CT and 909 PET slicers from 97 HCC patients were divided into a training cohort (N = 637) and a validation cohort (N = 272).

The GluN2B-Trp373 NMDA Receptor Variant is Associated with Autism-, Epilepsy-Related Phenotypes and Reduces NMDA Receptor Currents in Rats.

Autism spectrum disorder (ASD) is a neurodevelopmental condition with core clinical features of abnormal communication, social interactions, atypical intelligence, and a higher risk of epilepsy. Prior work has suggested that de novo heterozygous mutations in the GRIN2B gene that encodes the GluN2B subunit of N-methyl-D-aspartic acid receptors are likely linked to ASD. However, whether GLuN2B-Trp373 mutation derived from autistic individuals causes ASD-like behavioral aberrations in rats remains to be determined.

A systematic review of Vaccine Breakthrough Infections by SARS-CoV-2 Delta Variant.

Vaccines are proving to be highly effective in controlling hospitalization and deaths associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, as shown by clinical trials and real-world evidence. However, a deadly second wave of coronavirus disease 2019 (COVID-19), infected by SARS-CoV-2 variants, especially the Delta (B.1.

Radiomics and stacking regression model for measuring bone mineral density using abdominal computed tomography.

Background: Measurement of bone mineral density (BMD) is the most important method to diagnose osteoporosis. However, current BMD measurement is always performed after a fracture has occurred.

Purpose: To explore whether a radiomic model based on abdominal computed tomography (CT) can predict the BMD of lumbar vertebrae.

Non-prescription antibiotic use for cough among Chinese children under 5 years of age: a community-based cross-sectional study.

Objective: This study aimed to investigate the non-prescription use of antibiotics for cough among children under 5 years in China.

Design: A community-based cross-sectional survey.

Setting: A face-to-face interview based on a standard questionnaire in the community from October to December 2019.

Development of a nomograph integrating radiomics and deep features based on MRI to predict the prognosis of high grade Gliomas.

The purpose of this study was to assess the overall survival of patients with HGG using a nomogram which combines the optimized radiomics with deep signatures extracted from 3D Magnetic Resonance Images (MRI) as well as clinical predictors. One training cohort of 168 HGG patients and one validation cohort of 42 HGG patients were enrolled in this study. From each patient's 3D MRI, 1284 radiomics features were extracted, and 8192 deep features were extracted via transfer learning.

Health seeking behavior and associated factors among individuals with cough in Yiwu, China: a population-based study.

Background: Previous studies have shown that a certain proportion of the population did not seek medical treatment after coughing, and understanding the potential reasons is crucial for disease prevention and control.

Method: A population-based study was conducted with the probability proportional to population size sampling in Yiwu, Zhejiang, China. A total of 5855 individuals aged ≥15 years lived in Yiwu for more than 6 months were included.

Epimutation of MMACHC compound to a genetic mutation in cblC cases.

Background: Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene (OMIM 609831), of which more than 100 mutations have been identified to date. In this study, we only identified a coding mutation in one allele at the MMACHC gene locus, and no large fragments deletion or duplication were found. Up to now, only three epimutation cblC cases were reported.