174 results match your criteria: "Children's Hospital of Xi'an Jiaotong University[Affiliation]"

Background: Bones are one of the most common target organs for cancer metastasis. Early evaluation of bone metastasis (BM) status is clinically significant. Cancer patients often experience a hypercoagulable state.

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EEG-based emotion recognition through artificial intelligence is one of the major areas of biomedical and machine learning, which plays a key role in understanding brain activity and developing decision-making systems. However, the traditional EEG-based emotion recognition is a single feature input mode, which cannot obtain multiple feature information, and cannot meet the requirements of intelligent and high real-time brain computer interface. And because the EEG signal is nonlinear, the traditional methods of time domain or frequency domain are not suitable.

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Multi-dimensional influence of pediatric epilepsy on children and their families: A cross-sectional study.

Epilepsy Behav

September 2023

Department of Neurology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing, China. Electronic address:

Objective: In this study, we aimed to evaluate the effects of pediatric epilepsy on family burden, parental anxiety, depression states, and quality of life of both parents and children.

Methods: The study was undertaken between March and December 2021 using an online questionnaire that included the Family Burden Scale of Disease, the 7-item Generalized Anxiety Disorder scale, the 9-item Patient Health Questionnaire, the WHO Quality of Life Scale (WHOQOL-BREF), and the PedsQL 4.0 Generic Core Scales (parent-proxy report).

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Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient.

Stem Cell Res

September 2023

National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, 69 Xijuyuan Lane, Xi'an 710003, China. Electronic address:

Li-Campeau syndrome (LICAS) is a syndromic neurodevelopmental disorder characterized by autosomal recessive inheritance and global developmental delay. In this study, we reported the generation of a novel induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) obtained from a 7-year-old male patient with Li-Campeau syndrome. The patient carries compound heterozygous variants in the UBR7 gene (c.

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Prenatal stress (PS) increases offspring susceptibility to depression, but the underlying mechanism remains unclear. Our previous results showed that PS can affect depression-like behavior in offspring through neurotransmitters and neuroinflammatory substances in the hippocampus and frontal cortex. In recent years there has been increasing evidence for a role of the gut microbiome in depression.

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Background: Trauma is the leading cause of death among children worldwide. The inflammatory response of paediatric patients to multiple injuries can be monitored using serum interleukin-6 (IL-6) levels. This study aimed to assess the value of IL-6 levels in predicting the severity of paediatric trauma and its clinical association with disease activity.

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Orchestrated regulation of immune inflammation with cell therapy in pediatric acute liver injury.

Front Immunol

July 2023

Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Shaanxi Institute for Pediatric Diseases, The Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an, China.

Acute liver injury (ALI) in children, which commonly leads to acute liver failure (ALF) with the need for liver transplantation, is a devastating life-threatening condition. As the orchestrated regulation of immune hemostasis in the liver is essential for resolving excess inflammation and promoting liver repair in a timely manner, in this study we focused on the immune inflammation and regulation with the functional involvement of both innate and adaptive immune cells in acute liver injury progression. In the context of the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic, it was also important to incorporate insights from the immunological perspective for the hepatic involvement with SARS-CoV-2 infection, as well as the acute severe hepatitis of unknown origin in children since it was first reported in March 2022.

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ERS Mediated by GRP-78/PERK/CHOP Signaling Is Involved in Fluoride-Induced Ameloblast Apoptosis.

Biol Trace Elem Res

March 2024

Key laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, 710004, People's Republic of China.

Fluoride can be widely ingested from the environment, and its excessive intake could result in adverse effects. Dental fluorosis is an early sign of fluoride toxicity which can cause esthetic and functional problems. Though apoptosis in ameloblasts is one of the potential mechanisms, the specific signal cascade is in-conclusive.

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[Progression of high resolution esophageal manometry in children's digestive diseases].

Zhonghua Er Ke Za Zhi

July 2023

Department of Gastroenterology, the Affiliated Children's Hospital of Xi'an Jiaotong University, National Regional Medical Center for Children (Northwest), Xi 'an 710003, China.

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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Am J Hum Genet

July 2023

Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada. Electronic address:

ERI1 is a 3'-to-5' exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear.

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The role of m6A methylation in prenatal maternal psychological distress and birth outcome.

J Affect Disord

October 2023

Department of Neonatology, The First Affiliated Hospital of Xi'an Jiaotong University, 277 West Yanta Road, Xi'an 710061, Shaanxi, China; Department of Neonatology, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an 710002, Shaanxi, China. Electronic address:

Background: Prenatal maternal psychological distress (PMPD) is a known risk factor for adverse birth outcomes. N6-methyladenosine RNA (m6A) methylation is crucial in moderating RNA biology. This study aimed to evaluate the relationships between PMPD, birth outcomes, and placental m6A methylation.

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CCDC134 facilitates T cell activation through the regulation of early T cell receptor signaling.

Front Immunol

May 2023

Department of Immunology, School of Basic Medical Sciences, Peking University, and National Health Commission (NHC) Key Laboratory of Medical Immunology, Peking University, Beijing, China.

Modulation of surface T cell antigen receptor (TCR) expression is crucial for proper T cell development and maintenance of mature T cell function at steady state and upon stimulation. We previously determined that CCDC134 (coiled-coil domain containing 134), a cytokine-like molecule that served as a potential member of the γc cytokine family, contributes to antitumor responses by augmenting CD8 T cell-mediated immunity. Here we show that T cell-specific deletion of decreased peripheral mature CD4 and CD8 T cells, which resulted in impaired T cell homeostasis.

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Genome-wide by environment interaction studies of maternal smoking and educational score in UK biobank.

Psychiatr Genet

August 2023

Department of School of Public Health, Key Laboratory of Trace Elements and Endemic Diseases, Collaborative Innovation Center of Endemic Disease and Health Promotion for Silk Road Region, School of Public Health, Health Science Center, Xi'an Jiaotong University.

Purpose: This study aimed to investigate the associations between maternal smoking (MS) and education score in adult offspring.

Methods: To better understand this link, we performed a two-stage genome-wide by environment interaction studies (GWEIS) of MS and offspring education score in UK Biobank cohort. Specifically, 276 996 subjects from England were enrolled in the discovery study, while 24 355 subjects from Scotland and 14 526 subjects from Wales were enrolled in the replication study.

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Background: Hemorrhagic fever with Renal Syndrome (HFRS) is an infectious disease caused by Hantavirus with fever, hemorrhage and acute kidney injury (AKI) as clinical characteristics. The research on the etiology and pathogenesis of diseases has become a focus of attention. However, there are few related medical studies in children with HFRS.

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Introduction: Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disease affecting ectodermal tissue and often misdiagnosed in the neonatal period. The aim of this study was to highlight sequential clinical features and evaluate prognosis of the 32 neonatal IP patients.

Material And Methods: A retrospective descriptive analysis was performed, using the clinical, blood analytical, pathological, radiological, genetic, and followed-up data of neonatal patients diagnosed with IP from 2010 to 2021, in Xi'an, China.

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The macrolides-resistant Bordetella pertussis (MR-Bp) isolates in China evolved from the ptxP1/fhaB3 allele and rapidly became predominant, suggestive of an adaptive transmission ability. This was different from the global prevalent ptxP3 strains, in which MR-Bp was rarely reported. The study aimed to determine the underlying mechanism responsible for fitness and resistance in these two strains.

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Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.

Expert Rev Mol Med

May 2023

National Regional Children's Medical Centre (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710003, China.

Timothy syndrome (TS), characterised by multiple system malfunction especially the prolonged corrected QT interval and synchronised appearance of hand/foot syndactyly, is an extremely rare disease affecting early life with devastating arrhythmia. In this work, firstly, the various mutations in causative gene encoding cardiac L-type voltage-gated calcium channel (LTCC), regard with the genetic pathogeny and nomenclature of TS are reviewed. Secondly, the expression profile and function of gene encoding Ca1.

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P21-activated kinase 1 (Pak1) signalling plays a vital and overall protective role in the heart. However, the phenotypes of deficiency in the cardiac atria have not been well explored. In this study, cardiac-conditional knock-out (cKO) mice were studied under baseline and adrenergic challenge conditions.

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Patient-specific induced pluripotent stem cell properties implicate Ca-homeostasis in clinical arrhythmia associated with combined heterozygous and variants.

Philos Trans R Soc Lond B Biol Sci

June 2023

National Regional Children's Medical Center (Northwest); Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province; Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University, No. 69, Xijuyuan Lane, Xi'an 710003, People's Republic of China.

We illustrate use of induced pluripotent stem cells (iPSCs) as platforms for investigating cardiomyocyte phenotypes in a human family pedigree exemplified by novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants occurring alone and in combination. The proband, a four-month-old boy, presented with polymorphic ventricular tachycardia. Genetic tests revealed double novel heterozygous RYR2-A1855D and SCN10A-Q1362H variants inherited from his father (F) and mother (M), respectively.

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Article Synopsis
  • A 61-year-old man had serious swelling in his left leg after a procedure to treat a liver tumor.
  • Doctors found a problem called a pseudoaneurysm in his thigh and decided to do some special testing to understand it better.
  • They used a new method with a device called PROGLIDE to treat the problem, and it worked really well, showing a strong improvement in his condition.
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Objectives: To determine whether use, duration, and types of early antibiotics were associated with neonatal outcomes and late antibiotic use in preterm infants without infection-related diseases.

Methods: This cohort study enrolled infants admitted to 25 tertiary NICUs in China within 24 hours of birth during 2015-2018. Death, discharge, or infection-related morbidities within 7 days of birth; major congenital anomalies; and error data on antibiotic use were excluded.

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Emotion cognitive remediation is a critical component of social skills training for children with autism spectrum disorder (ASD). Visual perception of emotions is highly correlated with the intensity and sequence of presented emotions. However, few studies examined the effect of presentation sequence and intensity on emotion perception.

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Introduction: Many endocrine diseases, such as neuroblastoma (NB), can be linked with acquired cardiomyopathy and heart failure. Neuroblastoma's cardiovascular manifestations are typically hypertension, electrocardiogram (ECG) changes, and conduction disturbances.

Case Presentation: A 5-year-old 8-month-old girl was admitted to the hospital with ventricular hypertrophy and hypertension (HT) and heart failure.

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SLC38A6 expression in macrophages exacerbates pulmonary inflammation.

Respir Res

January 2023

Key Laboratory of Environment and Genes Related to Diseases, Xi'an Jiaotong University, Ministry of Education, Xi'an, Shaanxi, 710061, China.

Pulmonary inflammation involves complex changes of the immune cells, in which macrophages play important roles and their function might be influenced by metabolism. Slc38a6 acts as a carrier of nutrient for macrophages (Mφ) to exert the function. In this study, pneumonia patient blood was found up-regulated SLC38A6 expression, which correlated with monocytes number and white blood cell number.

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