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Article: Clinical Evaluation of Xpert Xpress CoV-2/Flu/RSV

Chan, Wai-Sing / Wong, Kan-Pui / Yau, Siu-Kei / Wong, Ching-Yan / Chan, Tsz-Ching / Hung, Jeffrey / Lai, Kristi Tsz-Wan / Leung, Chin-Pang / Wang, Candy Ling-Na / Au, Chun-Hang / Wan, Thomas Shek-Kong / Ma, Edmond Shiu-Kwan / Tang, Bone Siu-Fai

Diagnostics (Basel, Switzerland)

2024 Volume 14, Issue 7

Abstract: The performance of the Xpert Xpress CoV-2/Flu/ ... ...

Abstract	The performance of the Xpert Xpress CoV-2/Flu/RSV
Language	English
Publishing date	2024-03-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics14070683
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Effect on Germline Mutation Rate in a High-Risk Chinese Breast Cancer Cohort after Compliance with The National Comprehensive Cancer Network (NCCN) 2023 v.1 Testing Criteria.

Kwong, Ava / Ho, Cecilia Y S / Luk, Wing-Pan / Fung, Ling-Hiu / Au, Chun-Hang / Ma, Edmond S K

Cancers

2023 Volume 15, Issue 9

Abstract: Background: The National Comprehensive Cancer Network (NCCN) testing criteria for the high-penetrance breast cancer susceptibility genes, specifically : Methods: High-risk breast cancer patients (: Results: About 91.2% of the patients met the 2022 ...

Abstract	Background: The National Comprehensive Cancer Network (NCCN) testing criteria for the high-penetrance breast cancer susceptibility genes, specifically Methods: High-risk breast cancer patients ( Results: About 91.2% of the patients met the 2022 v.2 criteria, while 97.5% of the patients met the 2023 v.1 criteria. An extra 6.4% of the patients were included after the revision of the criteria, and 2.5% of the patients did not meet both testing criteria. The germline Conclusion: This study provided a real-world application of the revision of NCCN guidelines and its effect on the germline mutation rate in the Chinese population. Applying the updated criteria for further genetic investigation would increase the positive detection rate, and potentially more patients would benefit. The balance between the resource and outcome requires careful consideration.
Language	English
Publishing date	2023-05-06
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers15092635
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Article ; Online: The Seasonality of Respiratory Viruses in a Hong Kong Hospital, 2014-2023.

Chan, Wai-Sing / Yau, Siu-Kei / To, Man-Yan / Leung, Sau-Man / Wong, Kan-Pui / Lai, Ka-Chun / Wong, Ching-Yan / Leung, Chin-Pang / Au, Chun-Hang / Wan, Thomas Shek-Kong / Ma, Edmond Shiu-Kwan / Tang, Bone Siu-Fai

Viruses

2023 Volume 15, Issue 9

Abstract: We reviewed the multiplex PCR results of 20,127 respiratory specimens tested in a hospital setting from January 2014 to April 2023. The seasonal oscillation patterns of 17 respiratory viruses were studied. Compared with 2014-2019, a prominent drop in PCR ...

Abstract	We reviewed the multiplex PCR results of 20,127 respiratory specimens tested in a hospital setting from January 2014 to April 2023. The seasonal oscillation patterns of 17 respiratory viruses were studied. Compared with 2014-2019, a prominent drop in PCR positivity (from 64.46-69.21% to 17.29-29.89%,
Language	English
Publishing date	2023-08-26
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2516098-9
ISSN	1999-4915 ; 1999-4915
ISSN (online)	1999-4915
ISSN	1999-4915
DOI	10.3390/v15091820
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Article ; Online: Clinical Evaluation of the BIOFIRE SPOTFIRE Respiratory Panel.

Chan, Wai-Sing / Ho, Christy Wing-Yiu / Chan, Tsz-Ching / Hung, Jeffrey / To, Man-Yan / Leung, Sau-Man / Lai, Ka-Chun / Wong, Ching-Yan / Leung, Chin-Pang / Au, Chun-Hang / Wan, Thomas Shek-Kong / Zee, Jonpaul Sze-Tsing / Ma, Edmond Shiu-Kwan / Tang, Bone Siu-Fai

Viruses

2024 Volume 16, Issue 4

Abstract: The BIOFIRE SPOTFIRE Respiratory (R) Panel is a novel, in vitro diagnostic PCR assay with 15 pathogen targets. The runtime is about 15 min which is the shortest among similar panels in the market. We evaluated the performance of the SPOTFIRE R Panel with ...

Abstract	The BIOFIRE SPOTFIRE Respiratory (R) Panel is a novel, in vitro diagnostic PCR assay with 15 pathogen targets. The runtime is about 15 min which is the shortest among similar panels in the market. We evaluated the performance of the SPOTFIRE R Panel with 151 specimens, including 133 collected from the upper respiratory tract (URT), 13 from the lower respiratory tract (LRT) and 5 external quality assessment program (EQAP) samples. The respiratory specimens were enrolled throughout the first two post-COVID-19 influenza seasons in Hong Kong (March to December 2023). For URT specimens, full concordance was observed between the SPOTFIRE R Panel and the standard-of-care FilmArray Respiratory 2.1
MeSH term(s)	Humans ; COVID-19/diagnosis ; COVID-19/virology ; Respiratory Tract Infections/virology ; Respiratory Tract Infections/diagnosis ; Hong Kong ; SARS-CoV-2/genetics ; SARS-CoV-2/isolation & purification ; Sensitivity and Specificity ; Molecular Diagnostic Techniques/methods ; COVID-19 Nucleic Acid Testing/methods
Language	English
Publishing date	2024-04-13
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2516098-9
ISSN	1999-4915 ; 1999-4915
ISSN (online)	1999-4915
ISSN	1999-4915
DOI	10.3390/v16040600
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Article ; Online: Application of droplet digital PCR in minimal residual disease monitoring of rare fusion transcripts and mutations in haematological malignancies.

Ip, Beca B K / Wong, Anthony T C / Law, Janet Hei Yin / Au, Chun Hang / Ma, Shing Yan / Chim, James C S / Liang, Raymond H S / Leung, Anskar Y H / Wan, Thomas S K / Ma, Edmond S K

Scientific reports

2024 Volume 14, Issue 1, Page(s) 6400

Abstract: Leukaemia of various subtypes are driven by distinct chromosomal rearrangement or genetic abnormalities. The leukaemogenic fusion transcripts or genetic mutations serve as molecular markers for minimal residual disease (MRD) monitoring. The current study ...

Abstract	Leukaemia of various subtypes are driven by distinct chromosomal rearrangement or genetic abnormalities. The leukaemogenic fusion transcripts or genetic mutations serve as molecular markers for minimal residual disease (MRD) monitoring. The current study evaluated the applicability of several droplet digital PCR assays for the detection of these targets at RNA and DNA levels (atypical BCR::ABL1 e19a2, e23a2ins52, e13a2ins74, rare types of CBFB::MYH11 (G and I), PCM1::JAK2, KMT2A::ELL2, PICALM::MLLT10 fusion transcripts and CEBPA frame-shift and insertion/duplication mutations) with high sensitivity. The analytical performances were assessed by the limit of blanks, limit of detection, limit of quantification and linear regression. Our data demonstrated serial MRD monitoring for patients at molecular level could become "digitalized", which was deemed important to guide clinicians in treatment decision for better patient care.
MeSH term(s)	Humans ; Neoplasm, Residual/genetics ; Neoplasm, Residual/diagnosis ; Polymerase Chain Reaction ; Leukemia/diagnosis ; Chromosome Aberrations ; Hematologic Neoplasms/diagnosis ; Hematologic Neoplasms/genetics ; Transcriptional Elongation Factors/genetics
Chemical Substances	ELL2 protein, human ; Transcriptional Elongation Factors
Language	English
Publishing date	2024-03-16
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-57016-y
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: INSurVeyor: improving insertion calling from short read sequencing data.

Rajaby, Ramesh / Liu, Dong-Xu / Au, Chun Hang / Cheung, Yuen-Ting / Lau, Amy Yuet Ting / Yang, Qing-Yong / Sung, Wing-Kin

Nature communications

2023 Volume 14, Issue 1, Page(s) 3243

Abstract: Insertions are one of the major types of structural variations and are defined as the addition of 50 nucleotides or more into a DNA sequence. Several methods exist to detect insertions from next-generation sequencing short read data, but they generally ... ...

Abstract	Insertions are one of the major types of structural variations and are defined as the addition of 50 nucleotides or more into a DNA sequence. Several methods exist to detect insertions from next-generation sequencing short read data, but they generally have low sensitivity. Our contribution is two-fold. First, we introduce INSurVeyor, a fast, sensitive and precise method that detects insertions from next-generation sequencing paired-end data. Using publicly available benchmark datasets (both human and non-human), we show that INSurVeyor is not only more sensitive than any individual caller we tested, but also more sensitive than all of them combined. Furthermore, for most types of insertions, INSurVeyor is almost as sensitive as long reads callers. Second, we provide state-of-the-art catalogues of insertions for 1047 Arabidopsis Thaliana genomes from the 1001 Genomes Project and 3202 human genomes from the 1000 Genomes Project, both generated with INSurVeyor. We show that they are more complete and precise than existing resources, and important insertions are missed by existing methods.
MeSH term(s)	High-Throughput Nucleotide Sequencing/methods ; Sequence Analysis, DNA/methods
Language	English
Publishing date	2023-06-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-38870-2
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Article ; Online: Impulse control and related behavioral disorders (ICRD) in Idiopathic Parkinson's Disease treated with different dopamine agonists in Hong Kong: Is any dopamine agonist better?

Wu, Hiu Fung / Yu, Ellen Lok Man / Sheng, Bun / Wong, Kwok Kui / Au Yeung, Man / Wong, Wa Tai / Kwan, Hon Hang / Ng, Lun Pei / Cheung, Chun Hin / Lam, Yan Lok / Chan, Yat Kwan

Clinical parkinsonism & related disorders

2024 Volume 10, Page(s) 100235

Abstract: Objective: To assess the incidence of Impulse control and related behavioral disorders (ICRD) in Chinese Idiopathic Parkinson Disease (IPD) patients treated with different dopamine agonists (DA), and their clinical characteristics and associated risk ... ...

Abstract	Objective: To assess the incidence of Impulse control and related behavioral disorders (ICRD) in Chinese Idiopathic Parkinson Disease (IPD) patients treated with different dopamine agonists (DA), and their clinical characteristics and associated risk factors. Methods: This was an observational cohort study based on clinical interviews and medical records of IPD patients treated with DA for >6 months in three hospitals in Hong Kong. The short version of Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease (QUIP-S) was used to screen for ICRD. ICRD incidence among different DA, clinical characteristics and risk factors were examined. Results: Incidence of ICRD was analyzed in 311 patients taking their first, single DA. 43 patients (13.8 %) developed ICRD. The mean duration of IPD was 8.5 ± 5.6 years and median HY stage was 2.5. Bromocriptine and rotigotine users had lower ICRD incidence rate. Both pramipexole [adjusted HR 7.28 (2.46-21.54), p < 0.001] and ropinirole [adjusted HR 6.53 (2.67-15.99), p < 0.001] were independently associated with higher risk of ICRD compared to bromocriptine in multivariate analysis. Similarly, pramipexole and ropinirole appeared to carry higher risk compared to rotigotine but did not reach statistical significance. Male [adjusted HR 2.24 (1.07-4.72), p = 0.033], younger IPD onset [adjusted HR 2.99 (1.44-6.19) for onset < 50 year, p = 0.003] and history of psychiatric disorders [adjusted HR 2.80 (1.39-5.62), p = 0.004] were other independent risk factors. Conclusion: Bromocriptine and probably rotigotine carried a lower ICRD risk compared to pramipexole and ropinirole.
Language	English
Publishing date	2024-01-05
Publishing country	England
Document type	Journal Article
ISSN	2590-1125
ISSN (online)	2590-1125
DOI	10.1016/j.prdoa.2024.100235
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Article ; Online: How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

Kwong, Ava / Ho, Cecilia Yuen Sze / Shin, Vivian Yvonne / Au, Chun Hang / Chan, Tsun-Leung / Ma, Edmond Shiu Kwan

BMC medical genomics

2022 Volume 15, Issue 1, Page(s) 122

Abstract: Background: The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients, ... ...

Abstract	Background: The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients, currently, there is a lack of consensus management guidelines for clinicians on VUS. Methods: Among the BRCA1 and BRCA2 mutations screening in 3,544 subjects, 236 unique variants (BRCA1: 86; BRCA2: 150) identified in 459 patients were being reviewed. These variants consist of 231 VUS and 5 likely benign variants at the initial classification. Results: The variants in 31.8% (146/459) patients were reclassified during the review, which involved 26 unique variants (11.0%). Also, 31 probands (6.8%) and their family members were offered high-risk surveillance and related management after these variants were reclassified to pathogenic or likely pathogenic. At the same time, 69 probands (15%) had their VUS downgraded to cancer risk equivalent to the general population level. Conclusion: A review of archival variants from BRCA1 and BRCA2 genetic testing changed the management for 31.8% of the families due to increased or reduced risk. We encourage regular updates of variant databases, reference to normal population and collaboration between research laboratories on functional studies to define the clinical significances of VUS better.
MeSH term(s)	Breast Neoplasms/diagnosis ; Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Ovarian Neoplasms/genetics
Language	English
Publishing date	2022-05-31
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2411865-5
ISSN	1755-8794 ; 1755-8794
ISSN (online)	1755-8794
ISSN	1755-8794
DOI	10.1186/s12920-022-01270-4
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Article ; Online: A Case Report of Germline Compound Heterozygous Mutations in the

Kwong, Ava / Ho, Cecilia Y S / Shin, Vivian Y / Au, Chun Hang / Chan, Tsun Leung / Ma, Edmond S K

International journal of molecular sciences

2021 Volume 22, Issue 2

Abstract: The germline carrier of ... ...

Abstract	The germline carrier of the
MeSH term(s)	BRCA1 Protein/genetics ; BRCA1 Protein/metabolism ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Fanconi Anemia/genetics ; Female ; Genes, BRCA1 ; Genetic Predisposition to Disease ; Germ Cells ; Germ-Line Mutation ; Heterozygote ; Humans ; Middle Aged ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Pedigree
Chemical Substances	BRCA1 Protein ; BRCA1 protein, human
Language	English
Publishing date	2021-01-17
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22020889
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Article ; Online: How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?

Ava Kwong / Cecilia Yuen Sze Ho / Vivian Yvonne Shin / Chun Hang Au / Tsun-Leung Chan / Edmond Shiu Kwan Ma

BMC Medical Genomics, Vol 15, Iss 1, Pp 1-

2022 Volume 8

Abstract: Abstract Background The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their ... ...

Abstract	Abstract Background The popularity of multigene testing increases the probability of identifying variants of uncertain significance (VUS). While accurate variant interpretation enables clinicians to be better informed of the genetic risk of their patients, currently, there is a lack of consensus management guidelines for clinicians on VUS. Methods Among the BRCA1 and BRCA2 mutations screening in 3,544 subjects, 236 unique variants (BRCA1: 86; BRCA2: 150) identified in 459 patients were being reviewed. These variants consist of 231 VUS and 5 likely benign variants at the initial classification. Results The variants in 31.8% (146/459) patients were reclassified during the review, which involved 26 unique variants (11.0%). Also, 31 probands (6.8%) and their family members were offered high-risk surveillance and related management after these variants were reclassified to pathogenic or likely pathogenic. At the same time, 69 probands (15%) had their VUS downgraded to cancer risk equivalent to the general population level. Conclusion A review of archival variants from BRCA1 and BRCA2 genetic testing changed the management for 31.8% of the families due to increased or reduced risk. We encourage regular updates of variant databases, reference to normal population and collaboration between research laboratories on functional studies to define the clinical significances of VUS better.
Keywords	Hereditary breast cancer ; Breast cancer risk ; Variants of uncertain significance ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	610
Language	English
Publishing date	2022-05-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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