116 results match your criteria: "Hospital of Capital Institute of Pediatrics[Affiliation]"

Introduction: (), a common pathogen of community-acquired pneumonia in school-age children and adolescents, can cause epidemics worldwide. In late 2023, the incidence of infection among children reached a high level.

Methods: We investigated the antimicrobial susceptibility of 62 isolates obtained from children with pneumonia in Beijing between 2021 and 2023, and analyzed the correlation of antimicrobial susceptibility with molecular characteristics of isolates and clinical manifestations of patients.

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Effects of moderate intensity exercise on liver metabolism in mice based on multi-omics analysis.

Sci Rep

December 2024

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, 2 Yabao Road, Chaoyang District, Beijing, 100020, China.

Physical exercise is beneficial to keep physical and mental health. The molecular mechanisms underlying exercise are still worth exploring. The healthy adult mice after six weeks of moderate-intensity exercise (experimental group) and sedentary mice (control group) were used to perform transcriptomic, proteomic, lactylation modification, and metabolomics analysis.

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This study employs single-cell RNA sequencing (scRNA-seq) and assay for transposase-accessible chromatin with high-throughput sequencing technologies (scATAC-seq) to perform joint sequencing on cells at various time points during the induction of adipose-derived stem cells (ADSCs) into astrocytes. We applied bioinformatics approaches to investigate the differentiation trajectories of ADSCs during their induced differentiation into astrocytes. Pseudotemporal analysis was used to infer differentiation trajectories.

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Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

Prenat Diagn

December 2024

Department of Obstetrics and Gynecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.

Objective: Congenital diaphragmatic hernia (CDH) is a rare abnormality with highly heterogeneous genetic causes. This study investigated chromosomal and monogenic abnormalities in fetal CDH patients and evaluated the efficacy of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) for genetic diagnosis. The clinical features of the patients were also evaluated.

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Background: Persistent airflow limitation (PAL) in childhood asthma is associated with a poor prognosis. The aim of this study was to categorize asthmatic children with PAL into distinct phenotypes and investigate the risk factors associated with each phenotype.

Methods: We conducted a case-control study with a total of 119 PAL patients and 120 non-PAL (NPAL) individuals.

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Article Synopsis
  • - Microtubule affinity-regulating kinase 2 (MARK2) is crucial for neurons to develop properly, and variants in MARK2 have been linked to autism spectrum disorder (ASD) and other neurodevelopmental issues, with most being loss-of-function mutations.
  • - A study analyzed 31 individuals with MARK2 variants showing ASD along with unique facial features, finding that the loss of MARK2 disrupts early neuron development and leads to abnormal growth patterns in neural cells.
  • - Research using iPSC models and MARK2-deficient mice highlighted the link between MARK2 loss and issues in neuronal function, connecting it to the reduction of the WNT/β-catenin signaling pathway, while suggesting lithium as a potential treatment
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Background: Previous research has examined the associations of preschoolers' 24-h movement behaviours, including light and moderate-to-vigorous physical activity (LPA and MVPA), sedentary behaviour (SB), sleep, with physical fitness in isolation, ignoring intrinsically compositional nature of movement data while increasing the risk of collinearity. Thus, this study investigated the associations of preschoolers' 24-h Movement behaviours composition with physical fitness, estimated changes in physical fitness when time was reallocated between movement behaviours composition, and determined whether associations differ between different genders, using compositional data analysis.

Methods: In the cross-sectional study, a total of 275 preschoolers (3 ~ 6 y) from China were included.

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Characterization of neuronal differentiation in human adipose-derived stromal cells: morphological, molecular, and ultrastructural insights.

J Neurosci Methods

December 2024

Department of Neurology, Kailuan General Hospital affiliated to North China University of Science and Technology, Tangshan, Hebei Province 063000, China; Hebei Provincial Key Laboratory of Neurobiological Function, Tangshan, Hebei Province 063000, China. Electronic address:

Objective: Adipose-derived stromal cells (ADSCs) have shown promise as a potential source of neural differentiation. In this study, we investigated the morphological, molecular and ultrastructural features of ADSCs during neuronal differentiation.

Methods: ADSCs were induced in vitro and their differentiation was examined at different time points.

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Article Synopsis
  • High-throughput immune repertoire (IR) sequencing allows for an in-depth examination of B cell receptors (BCR) and T cell receptors (TCR), potentially improving the understanding and management of immune-related disorders.
  • The study used multiplex PCR to analyze BCR and TCR from bone marrow fluid (BMF) and peripheral blood (PB) of 17 patients, finding similar diversity in both sample types but notable differences in the distribution of monoclonal genes.
  • Results indicate that while PB samples can effectively monitor overall immune diversity, BMF samples remain essential for identifying specific monoclonal changes, aiding in clinical assessments and disease management strategies.
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Single-Incision Retroperitoneal Laparoscopic Resection of Adrenal Tumors in Children.

J Pediatr Surg

December 2024

Department of Thoracic Surgery & Surgical Oncology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China; Research Unit of Minimally Invasive Pediatric Surgery on Diagnosis and Treatment (2021RU015), Chinese Academy of Medical Sciences, Beijing, China. Electronic address:

Background: We describe our experience with single-incision retroperitoneal laparoscopic (SIRL) for resection of adrenal tumors in pediatric patients and discuss the technique's clinical value.

Methods: We retrospectively analyzed clinical data of 27 pediatric patients who underwent SIRL between January 2020 and September 2023. Patients with tumors >5 cm in size and those requiring vascular skeletonization surgery or extensive lymph node dissection were excluded.

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Objective: Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disease caused by CAG overexpansion (≥48 tandem copies) in ATN1. The aim of this research was to explore the genetic cause of a large Chinese DRPLA pedigree and to review the characteristics of Chinese DRPLA patients.

Methods: Suspected variants were screened by high-throughput sequencing.

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Article Synopsis
  • Autosomal-recessive cutis laxa type 2 (ARCL2) is a rare genetic disorder linked to mutations in the PYCR1 gene, leading to symptoms like loose skin, distinctive facial features, and developmental delays.
  • A specific mutation (c.559G > A) was found in a Chinese child with severe developmental issues, which helped to analyze the effects of this mutation on the PYCR1 protein.
  • The study demonstrated that the mutation causes the PYCR1 protein to misfold and lose function, confirming its role in the disorder's symptoms and the child's neurodevelopmental challenges.
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Article Synopsis
  • Noonan syndrome (NS) and a related condition called Noonan-like syndrome with loose anagen hair (NS/LAH) are caused by changes in certain genes that affect how the body grows and develops.
  • A study looked at 25 patients with these syndromes, finding that they often have short stature and unique facial features, along with other health issues like heart defects and rare conditions.
  • The research also discovered that a small number of patients had an autoimmune disease called systemic lupus erythematosus (SLE), which might affect their quality of life, and they noted a rare urinary condition as well.
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Background: Neurodevelopmental disorders (NDDs) encompass a diverse group of disorders characterized by impaired cognition, behavior, and motor skills. Genetic factor is the leading cause in about 35% of NDDs patients. Mutations of UFC1, an E2 enzyme participating in the post-translational modification of proteins through attachment of ubiquitin-like proteins, were recently reported to be associated with NDDs.

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Background: The association between 25(OH)D and pubertal timing has not been well studied. The aim of this study was to assess the relationship between 25(OH)D levels and pubertal timing in children.

Methods: Participants aged 6-14 years who had available nutritional and serum sex hormone (total testosterone (TT) and estradiol (E2)) information (n =1318) were included.

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Epidemiologic features and therapeutic strategies of kerion: A nationwide multicentre study.

Mycoses

June 2024

Department of Dermatology and Venereology, Peking University First Hospital, National Clinical Research Centre for Skin and Immune Diseases, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.

Background: Kerion is a severe type of tinea capitis that is difficult to treat and remains a public health problem.

Objectives: To evaluate the epidemiologic features and efficacy of different treatment schemes from real-world experience.

Methods: From 2019 to 2021, 316 patients diagnosed with kerion at 32 tertiary Chinese hospitals were enrolled.

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Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Mol Genet Genomic Med

April 2024

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

Background: Congenital disorders of glycosylation (CDG) are a type of inborn error of metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of glycans to proteins or lipids. One rare type of CDG is caused by homozygous or compound heterozygous loss-of-function variants in mannosidase alpha class 2B member 2 (MAN2B2). To date, only two cases of MAN2B2-CDG have been reported worldwide.

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Protein acetylation, which is dynamically maintained by histone acetyltransferases (HATs) and deacetylases (HDACs), might play essential roles in hippocampal exercise physiology. However, whether HATs/HDACs are imbalanced during the recovery phase following acute exercise has not been determined. Groups of exercised mice with different recovery periods after acute exercise (0 h, 0.

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Article Synopsis
  • The study explores the phenotypes associated with Rubinstein-Taybi syndrome (RSTS) caused by mutations in the CREBBP or EP300 genes, by analyzing pediatric patients referred to a hospital over nine years.
  • It involves genetic testing methods like whole exome sequencing and copy number variation analysis to classify variants, revealing that 67% of the 21 participants had point mutations and 33% had deletions.
  • Findings indicate 95% of patients had developmental delays before age 2 and 80% had distinctive facial features, but the study found no statistically significant difference in phenotype presentation based on variant type or gene involved.
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Novel homozygous ADK out-of-frame deletion causes adenosine kinase deficiency with rare phenotypes of sepsis, metabolites disruption and neutrophil dysfunction.

Gene

July 2024

McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China. Electronic address:

Adenosine kinase deficiency (OMIM #614300) is a type of inborn errors of metabolism with multiorgan symptoms primarily neurological disorders, hepatic impairment, global developmental delay, and mild dysmorphism. The genetic causes of adenosine kinase deficiency are homozygous or compound heterozygous loss-of-function variants of ADK. To date, fewer than 25 cases of adenosine kinase deficiency have been reported worldwide and none have been reported in China.

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The authors have requested retraction due to the identification of errors in the data. Reference: Xiaoming Hu, Dongzhe Zhu. Rehmannia Radix Extract Relieves Bleomycin-Induced Pulmonary Fibrosis in Mice via Transforming Growth Factor ß1 (TGF-ß1).

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The authors have requested retraction due to the identification of errors in the data. Reference: Xiaoming Hu, Xiaolan Huang. Alleviation of Inflammatory Response of Pulmonary Fibrosis in Acute Respiratory Distress Syndrome by Puerarin via Transforming Growth Factor (TGF-ß1).

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[The cutoff value of small airway dysfunction in children with bronchial asthma].

Zhonghua Er Ke Za Zhi

March 2024

Department of Allergy, Children's Hospital of Capital Institute of Pediatrics, Beijing 100020, ChinaChen Wei is studying at Graduate School, School of Clinical Medicine of Shandong Second Medical University, Weifang 261000, China.

To explore the cutoff value for assessing small airway dysfunction in children with asthma. A total of 364 asthmatic children aged 5 to 14 years, with normal ventilatory function, followed up at the Asthma Clinic of the Children's Hospital of Capital Institute of Pediatrics from January 2017 to January 2018, were selected as the case group. Concurrently, 403 healthy children of the same age range and without any symptoms in the community were chosen as the control group, and pulmonary function tests were conducted.

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Background: Cognitive-Behavior Therapy (CBT) is the validated non-pharmacological treatment for chronic pain in pediatric patients. While some suggested CBT were comparable to the usual care in reducing children's functional abdominal pain. This meta-analysis was designed to systematically review the literature for RCTs that investigated the efficacy of CBT in children with functional abdominal pain (FAP).

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