A5103086993- Neonatal Health and Biochemistry
- Mitochondrial Function and Pathology
- Methemoglobinemia and Tumor Lysis Syndrome
- Gastroesophageal reflux and treatments
- Pancreatic and Hepatic Oncology Research
- Neuroscience of respiration and sleep
- Cell Adhesion Molecules Research
- RNA and protein synthesis mechanisms
- Ear Surgery and Otitis Media
- Autoimmune Bullous Skin Diseases
- Supply Chain and Inventory Management
- Gastric Cancer Management and Outcomes
- Urticaria and Related Conditions
- Metabolomics and Mass Spectrometry Studies
- Diverticular Disease and Complications
- Streptococcal Infections and Treatments
- Sustainable Supply Chain Management
- Obstructive Sleep Apnea Research
- Functional Brain Connectivity Studies
- Neuroendocrine Tumor Research Advances
- Gastrointestinal disorders and treatments
- Genomics and Phylogenetic Studies
- Natural Compounds in Disease Treatment
- Heme Oxygenase-1 and Carbon Monoxide
- Metabolism and Genetic Disorders
Nanjing Drum Tower Hospital
2023-2024
Nanjing University of Chinese Medicine
2024
Nanjing Institute of Industry Technology
2024
Nanjing Medical University
2023
Wuhan Children's Hospital
2020-2022
Huazhong University of Science and Technology
2022
Jinan University
2012-2018
Soochow University
2018
Xijing Hospital
2017
Air Force Medical University
2017
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common X-linked enzymopathies caused by G6PD gene variant. The aim this study was to investigate molecular epidemiological characteristic among newborn screening population in Wuhan region. A total 430,806 healthy neonates area China were screened for from November 2016 December 2021. positive samples further detected with analysis. Among 957 abnormal enzyme activity, prevalence calculated as 0.22%. 38 genotypes found and...
Hearing loss is genetically heterogeneous and one of the most common human defects. Here we screened underlying mutations that caused autosomal recessive non-syndromic hearing in a Chinese family. The proband with profound had received audiometric assessments. We performed target region capture next generation sequencing 127 known deafness-related genes because individual tested negative for hotspot variants GJB2, GJB3, SLC26A4, MTRNR1 genes. identified novel c.6892C > T (p.R2298*) nonsense...
e16312 Background: Pancreatic cancer has 10% low rate of early diagnosis and resection due to its insidious onset poor prognosis. We aimed assess the safety efficacy a new mode preoperative therapy for patients with Potentially Resectable Cancer. Methods: This is single arm clinical trial (NCT05634564). Gemcitabine (1000 mg/m2) nabpaclitaxel (125 mg/m2; AG) were administered LAPC or BRPC on days 1 8, along tislelizumab (200 mg) day intravenously (IV) every three weeks. Concurrently,...
Appendiceal mucinous neoplasms are rare tumors for which clinical management is challenging. Endoscopic transcecal appendectomy has been shown to be effective the treatment of appendiceal orifice lesions [1] [2] [3]. Herein, we report application this technique successfully remove an neoplasm without adverse events.
The pathophysiology of achalasia, which involves central nuclei abnormalities, remains unknown. We investigated the resting-state functional MRI (rs-fMRI) features patients with achalasia.We applied to investigate brain in achalasia (n = 27), compared healthy controls 29). Focusing on three regions interest (ROIs): dorsal motor nucleus vagus (DMV), ambiguus (NA), and solitary tract (NTS), we analyzed variations connectivity (rs-FC), fractional amplitude low-frequency fluctuations (fALFF),...
Abstract Background Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The G6PD gene highly polymorphic, and over 200 mutations have been identified, many of which are associated with hemolytic anemia. Here, we analyzed clinical genetics data a Chinese girl favism who developed acute anemia after fava bean ingestion. Methods proband were collected analyzed, exons sequenced in her family. Results We reported for first time novel variant girl, named “G6PD...
Background and Aims: The pathophysiology of achalasia, which involves central nuclei abnormalities, remains unknown. We investigated the resting-state functional MRI (rs-fMRI) features patients with achalasia.Methods: applied to investigate brain in achalasia (n=27), compared healthy controls (n=29). Focusing on three regions interest (ROIs): dorsal motor nucleus vagus (DMV), ambiguus (NA), solitary tract (NTS), we analyzed variations connectivity (rs-FC), fractional amplitude low-frequency...