A5103082552- Pediatric Hepatobiliary Diseases and Treatments
- Congenital Anomalies and Fetal Surgery
- Gallbladder and Bile Duct Disorders
- Congenital gastrointestinal and neural anomalies
- Genomics and Rare Diseases
- Intestinal Malrotation and Obstruction Disorders
- Congenital Diaphragmatic Hernia Studies
- Esophageal and GI Pathology
- Pelvic floor disorders treatments
- Genomic variations and chromosomal abnormalities
- Hernia repair and management
- Gastrointestinal disorders and treatments
- Infant Nutrition and Health
- Organ Transplantation Techniques and Outcomes
- Gastroesophageal reflux and treatments
- Pediatric Urology and Nephrology Studies
- Liver Disease and Transplantation
- Genetic factors in colorectal cancer
- Metabolism and Genetic Disorders
- Urological Disorders and Treatments
- Hepatocellular Carcinoma Treatment and Prognosis
- BRCA gene mutations in cancer
- Connective tissue disorders research
- Airway Management and Intubation Techniques
- Pancreatic and Hepatic Oncology Research
University of Hong Kong
2015-2024
Chinese University of Hong Kong
2015-2024
Queen Mary Hospital
2015-2024
University of Hong Kong - Shenzhen Hospital
2019-2023
Thomas Jefferson University
2023
Macau University of Science and Technology
2022
The University of Sydney
2020
British Association of Urological Surgeons
2019
University of Maryland, College Park
2018-2019
Speechmatics (United Kingdom)
2017
Biliary atresia (BA) is characterized by the progressive fibrosclerosing obliteration of extrahepatic biliary system during first few weeks life. Despite early diagnosis and prompt surgical intervention, disease progresses to cirrhosis in many patients. The current theory for pathogenesis BA proposes that perinatal period, a still unknown exogenous factor meets innate immune genetically predisposed individual induces an uncontrollable potentially self-limiting response, which becomes...
Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis believed be multifactorial, but genetic contribution, especially for nonsyndromic (common form: > 85%) remains poorly defined.We conducted whole exome sequencing on 89 trios identify rare variants contributing etiology. Functional evaluation using patients' liver biopsies, human cell and zebrafish models were performed. Clinical impact respiratory system...
Abstract VACTERL acronym is assigned to a non‐random association of malformations in humans with poorly known etiology. It comprised vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula esophageal (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, female patient 21 base‐pair deletion exon 1 triplet repeats HOXD13, sonic hedgehog (SHH) downstream target. Our data provide piece clinical evidence implication SHH pathway...
Biliary atresia (BA) is a poorly understood and devastating obstructive bile duct disease of newborns. It often diagnosed late, incurable frequently requires liver transplantation. In this study, we aimed to investigate the underlying pathogenesis molecular signatures associated with BA.We combined organoid transcriptomic analysis gain new insights into BA pathobiology using patient samples mouse model BA.Liver organoids derived from patients rhesus rotavirus A-infected BA, exhibited...
Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess contribution copy number variants (CNVs) to HSCR, we analysed data generated from our previous genome-wide association study on HSCR patients, whereby identified NRG1 as new susceptibility locus. Analysis 129 Chinese patients and 331 ethnically matched controls showed that have greater burden rare CNVs (p = 1.50×10−5), particularly for those encompassing genes 5.00×10−6)....
The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence ganglia in variable lengths hindgut, resulting functional obstruction. HSCR attributed to a failure migration enteric ganglion precursors along developing gut. RET key regulator development nervous system (ENS) and major HSCR-causing gene. Yet reduced penetrance DNA HSCR-associated variants together with phenotypic variability suggest involvement additional genes disease. Through genome-wide...
To review all paediatric patients with intussusception over the last 17 years.Retrospective case series.A tertiary centre in Hong Kong.Children who presented from January 1997 to December 2014 were reviewed.The duration of symptoms, successful treatment modalities, complication rate, and length hospital stay studied.A total 173 children (108 male, 65 female) our during study period. Their median age at presentation was 12.5 months (range, 2 16 years) mean symptoms 2.3 (standard deviation,...
Abstract Although the main route of infection for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is tract, liver injury also commonly seen in many patients, as evidenced by deranged parenchymal enzymes. Furthermore, severity damage has been shown to correlate with higher mortality. Overall, mechanism behind remains unclear. We showed this study that intra-hepatic bile duct cells could be grown using a human organoid platform. The cholangiocytes were not only susceptible...
Biliary atresia (BA) is a poorly understood and devastating obstructive bile duct disease of newborns. Biliatresone, plant toxin, causes BA-like syndrome in some animals, but its relevance humans unknown. To validate the hypothesis that biliatresone exposure plausible BA mechanism humans, we treated normal human liver organoids with addressed adverse effects on organoid development, functions cellular organization. The control (without biliatresone) were well expanded much bigger than...