Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome.

 Variants of ubiquitin-specific protease 7 ( ) gene in humans are associated with a neurodevelopmental disorder-Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay. Other variable symptoms can affect multiple systems. In present study, we report two patients with core features from two unrelated consanguineous families originating from the Tianjin Children's Hospital.

Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy.

  encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. mutates, causing several diseases such as Seckel syndrome-5 and primary microencephaly-9.

[Predictive value of peripheral blood lymphocyte subsets for children with intravenous immunoglobulin-resistant Kawasaki disease].

Objectives: Based on peripheral blood lymphocyte subsets and common laboratory test indexes, this study aimed to construct a predictive scoring system for intravenous immunoglobulin (IVIG)-resistant Kawasaki disease (KD).

Methods: Children hospitalized in Tianjin Children's Hospital from January 2021 to March 2023 were included in the study (185 cases of IVIG-sensitive KD and 41 cases of IVIG -resistant KD). Forty-six healthy children matched for age and gender were selected as controls.

Network-based analysis on the genes and their interactions reveals link between schizophrenia and Alzheimer's disease.

Schizophrenia (SCZ) is a heterogeneous psychiatric disorder marked by impaired thinking, emotions, and behaviors. Studies have suggested a strong connection between SCZ and Alzheimer's disease (AD), however, controversies exist and the underlying mechanisms linking these two disorders remain largely unknown. Therefore, systematic studies of SCZ- and AD-related genes will provide valuable insights into the molecular features of these two diseases and their comorbidities.

[Clinical research of multisystem inflammatory syndrome in children].

To analyze the clinical characteristics of children with multisystem inflammatory syndrome (MIS-C) associated with SARS-CoV-2 in China, and to improve the understanding of MIS-C among pediatricians. Case series study.Collect the clinical characteristics, auxiliary examinations, treatment decisions, and prognosis of 64 patients with MIS-C from 9 hospitals in China from December 2022 to June 2023.

Smoking and alcohol consumption with the risk of 11 common otolaryngological diseases: a bidirectional Mendelian randomization.

Purpose: In this study, a bidirectional mendelian randomization was applied to evaluate the association of smoking and alcohol consumption with 11 otolaryngological diseases.

Methods: A total of 85,22,34 and 7 single nucleotide polymorphisms were used as instrumental variables for smoking initiation, cigarettes per day, alcoholic drinks per week and alcohol consumption, respectively. Genetic associations with 11 common otolaryngological diseases were obtained from the UK Biobank and FinnGen dataset.

Comprehensive systematic review and meta-analysis of the association between common genetic variants and autism spectrum disorder.

Background: Autism spectrum disorder (ASD) is neurodevelopmental disorder characterized by stereotyped behavior and deficits in communication and social interactions. To date, numerous studies have investigated the associations between genetic variants and ASD risk. However, the results of these published studies lack a clear consensus.

Serum perfluoroalkyl substances and growth and development in US adolescents: a nationally representative cross-sectional study.

Unlabelled: Per- and polyfluoroalkyl substances (PFAS), synthetic organic chemicals, have been discovered in the blood of both humans and animals throughout the world. This has raised widespread concerns about its toxicity, especially for growing children and adolescents. Most research on growth and development to date has concentrated on children at birth and during the first two years, while few studies have analyzed weight, height, and Body Mass Index (BMI) changes in children later in life.

Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.

Mutations in the CNOT1 gene lead to an incurable rare neurological disorder mainly manifested as a clinical spectrum of intellectual disability, developmental delay, seizures, and behavioral problems. In this study, we investigated a classical splice site variant of CNOT1 (c.1343+1G>T) associated with neurodevelopmental disorders, which was a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination.

A retrospective study of the clinical characteristics of 9 children with pulmonary embolism associated with Mycoplasma pneumoniae pneumonia.

Objective: The aim of this study was to analyze the clinical characteristics and treatment of children with Mycoplasma pneumoniae pneumonia (MPP) who also present with pulmonary embolism (PE).

Methods: This retrospective analysis examined the demographic data, clinical manifestations, laboratory tests, imaging characteristics, therapy, and prognosis of nine cases of children with Mycoplasma pneumoniae pneumonia (MPP) complicated by pulmonary embolism (PE). The study focused on patients admitted to the respiratory department of Tianjin Children's Hospital between January 2018 and December 2021.

The state and consideration for skin test of β-lactam antibiotics in pediatrics.

β-lactam antibiotics are the most frequently used drugs and the most common drugs that cause allergic reactions in pediatrics. The occurrence of some allergic reactions can be predicted by skin testing, especially severe adverse reactions such as anaphylactic shock. Thus, penicillin and cephalosporin skin tests are widely used to predict allergic reactions before medication in pediatrics.

Association between PFAS congeners exposure and asthma among US children in a nationally representative sample.

Over the past few decades, contamination with perfluorinated and polyfluoroalkyl substances (PFAS) has gradually become a worldwide problem. Now that common PFAS such as perfluorooctanoic acid (PFOA) and perfluorooctane sulfonic acid (PFOS) are being phased out and replaced, people may be exposed to other PFAS congeners, and their potential hazards should be fully studied. We assessed the association of serum PFAS levels (as biomarkers of exposure) with asthma, including 2-(N-methyl-perfluorooctane sulfonamido) acetic acid (Me-PFOSA-AcOH), pefluorodecanoic acid (PFDA), and perfluoroundecanoic acid (PFUnDA), using data from participants aged 3-11 from the 2013-2014 National Health and Nutrition Examination Surveys (n = 525), where PFAS was modeled as a binary variable.

Aging and diabetic retinopathy: Inherently intertwined pathophysiological processes.

Diabetic retinopathy (DR) is a leading cause of blindness worldwide and a costly complication of diabetes mellitus (DM). DR severity is associated with DM duration; thus, DR has become more devastating to individuals and healthcare systems owing to the aging population and the significantly increased human lifespan. Aging is an irreversible cellular state characterized by long-term stagnation of the cell cycle from excessive stress or damage.

Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.

Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular injury and commonly results in kidney failure. We reported a case of 4-year-old Chinese boy presented with severe anemia, kidney, and liver dysfunction. Whole exome sequencing (WES) was performed to identify the candidate variant with a negative result initially.

Modulation of GABA receptors in the insula bidirectionally affects associative memory of epilectic rats in both spatial and non-spatial operant tasks.

Background: Stimulation of gamma-aminobutyric acid (GABA) activity through GABA receptor agonists is the basic mechanism of many anticonvulsant drugs. Nevertheless, many of these GABergic drugs have adverse cognitive effects. We previously found that GABAB receptors (GABARs) in the insula regulate operant associative memory in healthy rats.

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of in a Quad Family Affected by Autism Spectrum Disorder.

Autism spectrum disorder (ASD) affects around 1% of children with no effective blood test or cure. Recent studies have suggested that these are neurological disorders with a strong genetic basis and that they are associated with the abnormal formation of dendritic spines. Chromosome microarray (CMA) together with high-throughput sequencing technology has been used as a powerful tool to identify new candidate genes for ASD.

Clinical characteristics of 14 pediatric mycoplasma pneumoniae pneumonia associated thrombosis: a retrospective study.

Objective: This study aimed to investigate the clinical characteristics and long-term prognosis of mycoplasma pneumoniae pneumonia (MPP)-associated thrombosis and to gain a better understanding of the diagnosis and treatment of the disease.

Methods: The medical records of 14 children with MPP-associated thrombosis between January 2016 and April 2020 were retrospectively reviewed at the Tianjin Children's Hospital.

Results: The ages of the patients ranged from 3 to 12 years old.

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Background: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by the loss of paternally expressed genes in the human chromosome region 15q11.2-q13. It is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity.

Molecular Epidemiology, Clinical Characteristics and Risk Factors for Bloodstream Infection of Multidrug-Resistant Infections in Pediatric Patients from Tianjin, China.

Purpose: The data on pediatrics with Multidrug-Resistant (MDR) infections are scarce. This study aims to investigate the molecular epidemiology of MDR , detect the mechanism of drug resistance, and determine the clinical risk factors for carbapenem-resistant (CRKP) bloodstream infections (BSIs) in a children's hospital.

Methods: A total of 62 strains were collected from Tianjin Children's Hospital.

Inductively coupled plasma mass spectrometry based urine metallome to construct clinical decision models for autism spectrum disorder.

Background: The global prevalence of autism spectrum disorder (ASD) is on the rise, and high levels of exposure to toxic heavy metals may be associated with this increase. Urine analysis is a noninvasive method for investigating the accumulation and excretion of heavy metals. The aim of this study was to identify ASD-associated urinary metal markers.

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Background: To screen the single nucleotide polymorphisms (SNPs) in the coding regions of VANGL and FZD family members related to the plane cell polarity (PCP) signaling pathway in neural tube defects (NTDs) patients, so as to provide theoretical and experimental basis for the prevention and treatment of NTDs by intervening PCP signal transduction.

Methods: 112 NTDs patients were collected as the case group and 112 craniocerebral trauma patients as control. Afterwards, blood genomic DNA was extracted and sequenced.