Background: Adenoviral infections are most likely to invade the respiratory tract, and clinical manifestations of varied; in severe cases, they may cause systemic multi-system damages so on. At present, early differential diagnosis is difficult under existing testing methods, it important analyze its characteristics risk factors for identification critical status rational treatment. Methods: The data 202 children with adenovirus pneumonia admitted Tianjin Children’s Hospital from January...

Objective To investigate the clinical characteristics and risk factors of Clostridioides difficile infection (CDI) in children with diarrhea, to provide evidence for prevention treatment CDI. Methods The data 192 diarrhoea suspected CDI admitted from August 2020 March 2023 were retrospectively analysed divided into two groups according whether occurred, statistically. Results There 85 cases diarrhoea, 60 males (70.6%) 25 females (29.4%), a male female ratio 2.4:1; manifestations mostly...

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder caused by genetic mutations. However, the genotype-phenotype correlation remains unclear. This study aimed to identify mutations in Chinese family with BPES elucidate relationship. A comprehensive clinical molecular analysis was conducted on three-generation BPES, which prospectively enrolled at Eye Hospital of Wenzhou Medical University. Affected individuals underwent systematic...

Neural tube defects (NTDs) are birth of the brain, spine, or spinal cord invoked by insufficient intake folic acid in early stages pregnancy and have a complex etiology involving both genetic environmental factors. So study aimed to explore association between alterations maternal one-carbon metabolism NTDs offspring.We conducted case-control get deeper insight into this association, as well role polymorphisms. Plasma concentrations folate, homocysteine (Hcy), S-adenosylmethionine (SAM),...

Abstract Background Norovirus (NoV) is a major cause of viral acute gastroenteritis (AGE) in children worldwide. Epidemiological analysis with respect to the virus strains limited China. This study aimed investigate prevalence, patterns, and molecular characteristics NoV infection among AGE Methods A total 4848 stool samples were collected from who admitted Tianjin Children’s Hospital August 2018 July 2020. was preliminarily detected using real-time reverse transcription polymerase chain...

The data on pediatrics with Multidrug-Resistant (MDR) Klebsiella pneumoniae infections are scarce. This study aims to investigate the molecular epidemiology of MDR pneumoniae, detect mechanism drug resistance, and determine clinical risk factors for carbapenem-resistant pneumonia (CRKP) bloodstream (BSIs) in a children's hospital.A total 62 strains were collected from Tianjin Children's Hospital. Carba NP polymerase chain reactions (PCR) performed mechanisms. Multilocus sequence typing...

Introduction This study aimed to investigate the correlation between Mycoplasma pneumoniae (MP) - DNA load in bronchoalveolar lavage fluid (BALF) of children with MP pneumonia (MPP) and its subtypes, relevant laboratory data, imaging, extrapulmonary complications infected children, clinical significance evaluating disease. Methods Children hospitalized MPP at Tianjin Children's Hospital December 2017 2020 were selected for study, excluding those mixed viral, bacterial, fungal infections....

Respiratory syncytial virus (RSV) is the main pathogen that causes hospitalization for acute lower respiratory tract infections (ALRIs) in children. With reopening of communities and schools, resurgence RSV COVID-19 post-pandemic era has become a major concern. To understand circulation patterns genotype variability Tianjin before during pandemic, total 19,531 nasopharyngeal aspirate samples from hospitalized children July 2017 to June 2022 were evaluated. Direct immunofluorescence...

The aim of the present study was to enhance understanding diagnosis and treatment neonatal hereditary spherocytosis (HS). Gene sequencing analysis performed for crucial splicing signals on exons introns 302 known pathogenic genes [including ANK1, SPTAN1, SPTA1, EPB42, SLC4A1, SPTB] that are associated with this genetic deficiency erythrocytes. A 26‑day‑old female presented jaundice, anemia, an increased count in peripheral blood reticulocyte spherocytes a positive acidified glycerol...

Norovirus (NoV) is the leading cause of acute gastroenteritis (AGE) worldwide. Globally, GII.4 Sydney 2012 strain has predominated since 2012, although variant strains have caused AGE outbreaks in China. Recent patterns NoV genotype distributions 6011 children with Tianjin, China were investigated. was detected using real-time reverse-transcriptase polymerase chain reaction and sequencing partial sequences viral capsid gene. genotypes determined, phylogenetic analysis conducted....

Abstract β-Ureidopropionase (βUP) deficiency is an autosomal recessive disease caused by abnormal changes in the pyrimidine-degradation pathway. This study aimed to investigate mutation of β-ureidopropionase gene ( UPB1 ) and clinical features 7 Chinese patients with βUP deficiency. We reported who were admitted at Tianjin Children's Hospital. Urine metabolomics was detected gas chromatography–mass spectrometry (GC–MS). Then genetic testing conducted polymerase chain reaction (PCR) method....

Choroid plexus papilloma (CPP) is a rare benign tumor of the central nervous system. Bilateral lateral ventricle CPP extremely uncommon. In this case report, we described bilateral in 4-month-old female patient conceived by vitro fertilization (IVF). Neurological examination and imaging were performed. neurological examination, meningeal irritation signs sunset phenomenon positive. Brain computed tomography (CT) magnetic resonance (MRI) displayed masses located trigone with hydrocephalus....

Intellectual disability (ID) is a non‑specific phenotype present in genetically heterogeneous group of disorders. The genetic cause ID remains elusive the majority patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied identify pathogenic gene variants responsible for ID. report described 1.7‑year‑old female patient who had severe with specific features delayed motor development, language disorders and abnormal facial features. Exome analysis...

We evaluated the influence of gene-gene interactions between VANGL1, FZD3, and FZD6 on risk neural tube defects (NTDs) in Han population north China.Two single nucleotide polymorphisms (SNPs) (rs4839469 rs34059106) within two SNPs (rs2241802 rs28639533) three (rs827528, rs3808553, rs12549394) were genotyped 135 NTD patients controls.The Genetics Molecular Research 15 (3): gmr.15039010 analyzed using multifactor dimensionality reduction (MDR) software.The distribution genotypes rs4 839 469...

Anemia is a common complication of tuberculosis (TB), and there evidence that its prevalence higher in patients with TB. Although TB very important epidemiology, careful investigation TB-related anemia children has not been carried out systematically. This study aimed to describe the details association clinical characteristics severity inflammation.

Intellectual disability refers to significantly subaverage intellectual function (intelligence quotient < 70) with impairment of adaptive function. The IQSEC2 gene is one the pathogenic genes located on chromosome Xp11.22. an X-linked correlated and epilepsy. In this study, we reported a 2-year-old male patient presented reacting sluggishly people surroungdings. Active electroencephalogram showed background epileptic activity. Brain MRI revealed patchy hyperintensity bilateral parietal lobe...

Intracranial medulloepithelioma is an extremely rare and highly malignant fast-growing tumor that shows a propensity to spread widely throughout the central nervous system. It most commonly occurs in infants young children. We report case of 2-year-old female patient with large mass lesion diagnosed as medulloepithelioma. Although radiological examination was characteristic for neoplasm, it not sufficient make definite diagnosis. However, when combined histopathological examination, we could...