A5064784337- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Childhood Cancer Survivors' Quality of Life
- Genetic factors in colorectal cancer
- Diet and metabolism studies
- Amino Acid Enzymes and Metabolism
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Ion channel regulation and function
- Peptidase Inhibition and Analysis
- Metalloenzymes and iron-sulfur proteins
- Cellular transport and secretion
- Family Support in Illness
- Retinal Imaging and Analysis
- Cardiomyopathy and Myosin Studies
- Ophthalmology and Visual Impairment Studies
- RNA regulation and disease
- Muscle Physiology and Disorders
- Cerebral Palsy and Movement Disorders
- Testicular diseases and treatments
Hong Kong Adventist Hospital
2021-2024
Duchess of Kent Children's Hospital
2008-2023
Kowloon Hospital
2022
Tung Wah College
2020
University of Hong Kong
2005-2019
King's College Hospital
2019
Queen Mary Hospital
2005-2018
Chinese University of Hong Kong
2005-2017
Prince of Wales Hospital
2005
Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from intensive care unit (ICU). This study sought to examine diagnostic and clinical utility, economic impact management of rWES in patients beyond infancy ICU setting.rWES was performed a prospective cohort with suspected monogenic disorder referred territory-wide paediatric ICUs non-ICUs Hong Kong urging rapid genetic diagnosis. All...
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally expanding rapidly in parallel with advances technology, diagnosis, treatment availability for these conditions. In Hong Kong, NBS inborn errors metabolism (NBSIEM) began as a pilot October 2015 was implemented all birthing hospitals within the healthcare system...
Abstract The objective of the study is to evaluate evolving phenotype and genetic spectrum patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long‐term follow‐up. Longitudinal clinical biochemical data 22 pediatric 9 adult individuals SSADHD from patient registry International Working Group on Neurotransmitter related Disorders (iNTD) were studied silico analyses, pathogenicity scores molecular modeling ALDH5A1 variants. Leading initial symptoms, onset infancy,...
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement and global developmental delay. This study presents the results first standardized deep phenotyping approach describes clinical biochemical presentation at disease onset as well diagnostic approaches 275 patients from registry International Working Group on Neurotransmitter related Disorders. The reveal an increased rate prematurity, a high risk for being small gestational age...
Abstract Background The Conserved Oligomeric Golgi (COG) complex is involved in the retrograde trafficking of components, thereby affecting localization glycosyltransferases. Deficiency a COG-subunit leads to defective protein glycosylation, and thus Congenital Disorders Glycosylation (CDG). Mutations subunits 1, 4, 5, 6, 7 8 have been associated with CDG-II. first patient COG5-CDG was recently described (Paesold-Burda et al . Hum Mol Genet 2009; 18:4350–6). Contrary most other COG-CDG...
Mitochondrial disorders are multiorgan resulting in significant morbidity and mortality. We aimed to characterize death-associated factors an international cohort of deceased individuals with mitochondrial disorders. This cross-sectional multicenter observational study used data provided by 26 disease centers from 8 countries January 2022 March 2023. Individuals genetically confirmed were included, along patients clinically or diagnosed Leigh syndrome. Collected included demographic genetic...
In this study, we evaluated the implementation of a second-tier genetic screening test using an amplicon-based next-generation sequencing (NGS) panel in our laboratory during period 1 September 2021 to 31 August 2022 for newborn (NBS) six conditions inborn errors metabolism: citrullinemia type II (MIM #605814), systemic primary carnitine deficiency #212140), glutaric acidemia I #231670), beta-ketothiolase (#203750), holocarboxylase synthetase #253270) and 3-hydroxy-3-methylglutaryl-CoA lyase...
Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as consequence epileptic activity. The phenomenon the most common and severe in infancy early childhood. Genetic-based diagnosis EE patients challenging owing to genetic phenotypic heterogeneity numerous monogenic disorders fact that thousands genes are involved neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used investigate...
Abstract Objective To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate clinical characteristics genetic landscape MD patients region. Methods This study retrospectively reviewed phenotypic molecular from participating public hospitals HK between January 1985 October 2020. Molecularly and/or enzymatically confirmed cases any age were recruited via Clinical Analysis Reporting System (CDARS) using relevant keywords International Classification Disease...
Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report CNV findings cohort Chinese ASD.DNA samples were obtained from 258 recruited child assessment center between January 2011 and August 2014. aCGH...
Abstract Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology encephalopathy. Our nine patients, five new were seven families. Epileptic spasms most frequent seizure type, occurring eight and began at a median age 3 months (2 to years). Focal seizures preceded three children, onset 7 days, 11 4...
Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms myopathy. The c.1516A>C variant has recently been reported as a founder mutation southern Chinese.We report six cases 8 involves variant, from five unrelated families non-consanguineous Chinese. pre- and postnatal phenotypes these were reviewed with emphasis on prenatal clinical features. Genetic testing for was performed three patients homozygous mutations.Common...
DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention neurological manifestations this newly reported heterogenous not fully understood, optimal strategy remains to be elucidated. global or regional incidence disease yet estimated. Here, we report first individual diagnosed with Hong Kong; condition was picked up by newborn screening due after ruling out...
Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for long time, have the potential to support medical and public health research, secondary usages such as quality assurance forensics, making it ideal candidate bio-banking. However, worldwide policies vary with regard duration storage DBS how used. Recent advances in genomics also made possible perform extended genetic testing on period diagnose both actionable...
Objective To compare and contrast the perceived care needs of children with life-limiting conditions (CLLC) from perspectives children, parents healthcare providers. Design A qualitative case study method using semistructured interviews was employed a within-case across-case analysis. Themes subthemes emerging cases were compared contrasted in analysis to explore similarities variations participant perceptions. Setting/participants The setting paediatric departments five regional hospitals...
Abstract Background Newborn screening programmes offer an opportunity to obtain dried blood spots (DBS) cards that contain a wealth of biological information can be stored for long periods and have potential benefits research quality assurance. However, the storage secondary uses DBS pose numerous ethical, clinical, social challenges. Empirical exploring public attitudes is central policy planning as it indicate whether or not there broad support, define concerns, ascertain circumstances...
Childhood encephalopathy comprises a wide range of etiologies with distinctive distribution in different age groups. We reviewed the pattern admitted to pediatric intensive care unit (PICU) tertiary children's hospital.We medical records and reported etiologies, clinical features, outcomes children encephalopathy.Twenty-four admissions PICU between April 2019 May 2020 were reviewed. The median (interquartile range) was 10.0 (14.7) years 62.5% boys. Confusion (66.7%) most common presentation....
We report a girl with drug-resistant seizures, progressive behavioral changes, and cognitive decline. Investigations showed abnormal EEG frequent high-voltage bifrontotemporal sharp slow waves, especially during sleep. Seizures were difficult to control, despite the usage of various antiepileptic drugs. Perampanel as an add-on drug appeared efficacious. Due recognizable pattern seizures findings, karyotype study was performed which revealed 46 chromosomes ring 20 chromosome mosaicism. Ring...