A5017146047- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Adipose Tissue and Metabolism
- RNA Research and Splicing
- ATP Synthase and ATPases Research
- Family and Disability Support Research
- Tissue Engineering and Regenerative Medicine
- Connective tissue disorders research
- Family Support in Illness
- Cell Adhesion Molecules Research
- Hypertrophic osteoarthropathy and related conditions
- Telomeres, Telomerase, and Senescence
- Birth, Development, and Health
- Exercise and Physiological Responses
- Ion channel regulation and function
- Congenital heart defects research
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- Child Therapy and Development
Children's Hospital of Fudan University
2015-2025
Shanghai Children's Medical Center
2024
Peking University First Hospital
2022
Peking University
2022
Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or considered. A comprehensive database critical patient recruitment efficacy evaluation. China has the largest population, yet, DMD/BMD available. Our study registered data of patients in East China. modified registry form Remudy ( http://www.remudy.jp/ ) was applied to Chinese through outpatient clinic at Children's Hospital Fudan...
Objective: To explore the intervention effects of skill training for parents with autism child (STPAC) on toddlers spectrum disorder (ASD). Methods: A multicenter non-randomized concurrent controlled study design was conducted. Thirty children ASD aged 15-30 months, first diagnosed at Children's Hospital Fudan University, First Jilin and Chengdu Women's Central from 2019 to 2020, were enrolled in STPAC group. who visited same hospitals during period but refused selected as control The group...
Abstract Background An increasing number of clinical trials for new therapeutic strategies are underway or being considered dystrophinopathy. Having detailed data on the natural progression this condition is crucial assessing effectiveness drugs. However, there’s a lack regarding long-term course and how it’s managed in China. In study, we offer comprehensive overview molecular findings, as well treatment outcomes Chinese population. Methods Institutional all patients with dystrophinopathy...
Background: Collagen VI-related disorder (COLVI-RD) is one of the most common congenital muscular dystrophies. However, data limited in China. Methods: We conducted a retrospective study at two tertiary centers. Clinical presentations, lab findings (including serum creatine kinase levels), muscle biopsy, and molecular test results for patients diagnosed with definite COLVI-RD were collected. Results: A total 82 enrolled study, including 4 early-severe Ullrich dystrophy (E-S UCMD) (4.8%), 45...
Background There is a large population of people with spinal muscular atrophy (SMA) in China, and new disease-modifying therapies have become available recently. However, comprehensive data on the management profile treatment-naive SMA patients China are still lacking. Methods As retrospective study, cohort clinical genetic diagnoses 5q were enrolled, ranging from neonatal to 18 years old, Neurology Department Children's Hospital Fudan University between January 2013 December 2020. The...
Introduction Mitochondrial myopathy in children has notable clinical and genetic heterogeneity, but detailed data is lacking. Patients Methods In this study, we retrospectively reviewed the presentation, laboratory investigation, histopathological characteristics, follow-ups of twenty-one pediatric mitochondrial cases from China. Results Twenty-four patients suspected with were enrolled initially genetically identified. Fourteen found to harbour DNA point mutations (14/21, 66.7%), including...
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms non-dystrophic myotonia, in which muscle relaxation delayed after voluntary or evoked contraction. However, there limited data clinical and molecular spectrum MC patients China. Patients Methods: Five with due to mutations CLCN1 gene were enrolled, identified through trio-whole-exome sequencing panel-based next-generation test. The presentation, laboratory data, electrophysiological tests, muscular pathology...
Objective: To explore the relationship between fathers' nursing time and maternal parenting stress of children with autism spectrum disorder(ASD). Method: Mothers 98 ASD who were first diagnosed in department Child Health Care, Children's Hospital Fudan University during June 2015 to January 2016 included group, mothers 92 typical from a Community Maternal kindergarten control group. The evaluation stress, parents' other related factors cross-sectionally analyzed. Interview was conducted...
Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of corpus callosum underdevelopment or thinness callosum. SMA and callosal hypoplasia are relatively rare, there limited information sharing diagnosis treatment for patients with hypoplasia.A boy hypoplasia, small penis, testes had been perceived regression at 5 months. He was referred rehabilitation department neurology 7 Physical examination showed absent...
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder that can be treated with intrathecal nusinersen, an antisense oligonucleotide. In addition to efficacy, safety determining factor in the success of any therapy. Here, we aim assess nusinersen therapy paediatric patients SMA.
<title>Abstract</title> Background A growing number of clinical trials for new therapeutic strategies are being conducted or considered dystrophinopathy. Detailed data on natural history will facilitate the evaluation effectiveness drugs this rare disease. Nevertheless, there is a paucity regarding long-term and associated management in China. Here, we provide comprehensive description molecular findings treatment outcomes Chinese population. Methods Institutional all patients with...