32 results match your criteria: "Children's Hospital of Fudan University Shanghai[Affiliation]"

Importance: Digital technology is now widely available for the interventions of autism, but its validity and feasibility remain to be proved.

Objective: This study aimed to investigate the effectiveness of digital health interventions (DHIs) in improving core symptoms or intelligence quotient in patients with autism spectrum disorder (ASD).

Methods: Three databases including PubMed, Cochrane, and Scopus, were searched on November 15, 2022.

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In tic disorders (TD), tic expression varies across the lifespan and as a function of contextual factors. This study explored connections between tic expression and contextual triggers across life periods in 74 adults (M = 23.2) with TDs.

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Background: Eustachian tube dysfunction (ETD) is the predominant cause of otitis media with effusion in children and adults. Balloon dilatation of the Eustachian tube (BDET) provides a new method for restoring the ventilatory function of Eustachian tube (ET). However, the differences in age-related morphological changes in the dimensions and positions of ET in children and adults are unclear.

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Article Synopsis
  • Motor proteins from the Kinesin superfamily are vital for brain development and have been linked to neurodevelopmental disorders.
  • A case involving a 6-year-old boy with severe epilepsy and intellectual disabilities revealed a novel genetic deletion in the KIF5C gene that affects crucial protein function.
  • The study highlights how this genetic variant disrupts normal cellular processes and reinforces the need for further understanding of KIF5C's role in neurodevelopment to improve diagnosis and treatment options.
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To investigate the anesthesia outcomes of ketamine and propofol in pediatric anesthesia and analyze associated prognostic factors. A retrospective study was conducted on 160 children who underwent anesthesia and operation in Children's Hospital of Nanjing Medical University from 2020 to 2022. The anesthesia outcomes was analyzed by comparing the blood oxygen saturation (SpO), heart rate (HR), mean arterial pressure (MAP) at before (T), during (T) and after (T) operations, recovery time after anesthesia, post-anesthesia care unit (PACU) stay, adverse reactions, as well as the Steward and FLACC scores between the control and research groups.

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Atopic dermatitis (AD) is a complex disease characterized by recurrent eczematous lesions and refractory pruritus that drastically impairs quality of life. Due to the chronic and relapsing course, patients are easily trapped in the debilitating condition. Classical therapies show limitations, especially for patients with moderate-to-severe phenotypes.

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Objective: To investigate the diagnostic value of deep learning (DL) in differentiating otitis media (OM) caused by otitis media with effusion (OME) and primary ciliary dyskinesia (PCD), so as to provide reference for early intervention.

Methods: From January 2010 to January 2021, 31 patients with PCD who had temporal bone computed tomography (TBCT) in the Children's Hospital of Fudan University were retrospectively analyzed. Another 30 age-matched cases of OME with TBCT were collected as the control group.

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Atypical teratoid/rhabdoid tumors (AT/RTs) are lethal central nervous system tumors, which are primarily diagnosed in infants. Current treatments for AT/RTs include surgery, radiotherapy, and chemotherapy; these treatments have poor prognoses and challenging side effects. The pivotal genetic event in AT/RT pathogenesis comprises the inactivation of or .

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AIE-active luminogens as highly efficient free-radical ROS photogenerator for image-guided photodynamic therapy.

Chem Sci

March 2022

Shanghai Key Laboratory of Functional Materials Chemistry, Key Laboratory for Advanced Materials and Institute of Fine Chemicals, Joint International Research Laboratory of Precision Chemistry and Molecular Engineering, Feringa Nobel Prize Scientist Joint Research Center, Frontiers Science Center for Materiobiology and Dynamic Chemistry, School of Chemistry and Molecular Engineering, East China University of Science and Technology Shanghai 200237 China

Image-guided photodynamic therapy (PDT) can realize highly precise and effective therapy the integration of imaging and therapy, and has created high requirements for photosensitizers. However, the PDT modality usually utilizes conventional type II photosensitizers, resulting in unsatisfactory imaging and therapeutic outcomes due to aggregation-caused quenching (ACQ), "always on" fluorescence and strong oxygen dependence. Herein, we report the type I-based aggregation-induced emission (AIE) photosensitizer TCM-CPS with low oxygen dependence, near-infrared (NIR) emission and "off-on" fluorescence; in particular, it produces more reactive oxygen species (ROS) than commercially available Chlorin e6 and Rose Bengal.

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Objective: To explore the peripheral blood lymphocyte counts and analyze the prognostic risk factors for the death in patients with chronic active Epstein-Barr virus (CAEBV) infection.

Methods: Clinical data of 64 patients infected with CAEBV (CAEBV group) and 64 patients with infectious mononucleosis (IM group) in our hospital were retrospectively analyzed. Meanwhile, 64 healthy individuals came for physical examination were enrolled in the control group.

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Chronic hepatitis B virus (HBV) infection caused by mother-to-child transmission (MTCT, also known as vertical transmission) during the perinatal period is a major public health problem worldwide. Despite the availability of the combined active-passive immunization with a hepatitis B vaccine and hepatitis B immunoglobulin after birth, about 9% of newborns are still infected with HBV, especially those born to hepatitis B e antigen (HBeAg)-positive mothers. Currently, the management of HBV infection during pregnancy remains controversial.

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Objective: We aimed to use next-generation sequencing (NGS) for the early diagnosis of primary immunodeficiency diseases (PIDs) and define its effects on medical management for an infant cohort in early life.

Methods: A single-centre study was conducted from November 2015 to April 2018. Infants less than 3 months old with infections or abnormal white blood cell counts were enrolled in the study.

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This survey followed the birth population-based study conducted in 2010 in Huai'an, Jiangsu Province, with the aim to estimate perinatal-neonatal mortality and preterm birth rate in emerging regions with similar maternal-fetal and neonatal care conditions in China. Data of total births in 2015 were prospectively collected by regional perinatal network collaboration in Huai'an, a subprovincial region with a population of 5,644,500 and gross domestic production of 9082 USD . The 59,424 birth registries (including 59,023 live births and 167 stillbirths) corresponded to a birth rate of 10.

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Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.

Eur J Med Genet

February 2019

Shanghai Key Lab of Birth Defects, Pediatrics Research Institute, Children's Hospital of Fudan University Shanghai, 201102, China. Electronic address:

Background: Developmental delay (DD) is a neurological disorder that presents with defects in gross motor, fine motor, language and cognition functions. WD repeat domain 45 (WDR45) is one of the disease-causing genes of DD. Previously, WDR45 de novo mutations were reported in certain adult and pediatric patients due to iron accumulation.

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Malignant infantile osteopetrosis (MIOP) is a rare inherited bone metabolism disorder characterized by increased bone mineral density (BMD) and abnormal hematopoiesis. Hematopoietic stem cell transplantation (HSCT) is currently the only curative therapy for MIOP. However, a higher risk of secondary malignancy occurs in children previously exposed to cytotoxic drugs.

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Ovarian sex cord stromal tumor is a relatively rare subtype of ovarian neoplasms, consisting of only 8% of all primary ovarian neoplasms, among which sex cord tumor with annular tubules (SCTAT) accounts for only 6% of sex cord stromal tumors. The majority of patients with SCTAT are women at reproductive age. Roughly one-third of the patients have Peutz-Jeghers syndrome (PJS), and in cases without PJS, about 15%-20% SCTAT tend to be clinical malignant.

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Background: BRG1, an ATPase subunit of the SWItch/Sucrose Non-Fermentable complex, is tightly associated with cardiac development. However, little is known about the association between the pathogenesis of CHD and BRG1.

Methods: The methylation of a BRG1 promoter and a novel CpG island in the second intron was analyzed in the myocardium of congenital heart disease (CHD) patients (n = 24) and normal controls (n = 11) using pyrosequencing and the MassARRAY platform.

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Social Preference Deficits in Juvenile Zebrafish Induced by Early Chronic Exposure to Sodium Valproate.

Front Behav Neurosci

October 2016

Translational Medical Center for Development and Disease, Shanghai Key Laboratory of Birth Defect, Institute of Pediatrics, Children's Hospital of Fudan University Shanghai, China.

Prenatal exposure to sodium valproate (VPA), a widely used anti-epileptic drug, is related to a series of dysfunctions, such as deficits in language and communication. Clinical and animal studies have indicated that the effects of VPA are related to the concentration and to the exposure window, while the neurobehavioral effects of VPA have received limited research attention. In the current study, to analyze the neurobehavioral effects of VPA, zebrafish at 24 h post-fertilization (hpf) were treated with early chronic exposure to 20 μM VPA for 7 h per day for 6 days or with early acute exposure to 100 μM VPA for 7 h.

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Dexmedetomidine alleviates postoperative cognitive dysfunction by inhibiting neuron excitation in aged rats.

Am J Transl Res

April 2016

Department of Anesthesiology, Jinshan Hospital Fudan UniversityShanghai, China; Department of Anesthesiology, Zhongshan Hospital Fudan UniversityShanghai, China.

The perioperative stress response is one of the factors leading to postoperative cognitive dysfunction (POCD). Dexmedetomidine (Dex) can reduce the stress response and hippocampus neuroapoptosis, but its mechanism of action on POCD remains unknown. This study investigated the protective effect and possible mechanism of Dex on POCD in aged rats.

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Article Synopsis
  • A study looked at 300 infants with sensorineural hearing loss and 484 normal infants to analyze the impact of the p.V37I variant.
  • Among those with hearing impairments, some showed the p.V37I variation, mostly resulting in mild to moderate hearing loss, suggesting that this variant should be screened in infants with similar conditions.
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A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter.

J Clin Gastroenterol

April 2016

*State Key Laboratory for Oncogenes and Related Genes, Key Laboratory of Gastroenterology & Hepatology Ministry of Health, Division of Gastroenterology and Hepatology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University Shanghai Cancer Institute, Shanghai Institute of Digestive Disease†Center for Pediatric Liver Diseases Children's Hospital of Fudan University Shanghai, China.

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Congenital hyperinsulinism (CHI) has been mostly associated with mutations in seven major genes. We retrospectively reviewed a cohort of 32 patients with CHI. Extensive mutational analysis (ABCC8,KCNJ11,GCK,GLUD1,HADH,HNF4A, and UCP2) was performed on Ion torrent platform, which could analyze hundreds of genes simultaneously with ultrahigh-multiplex PCR using up to 6144 primer pairs in a single primer pool and address time-sensitive samples with single-day assays, from samples to annotated variants, to identify the genetic etiology of this disease.

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