158 results on '"Mak CM"'
Search Results
2. BAG3-related myofibrillar myopathy in a Chinese family
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Lee Kc, Lee Hc, Tong Tw, Chan Ay, Cherk Sw, S.H. Wong, Mak Cm, Chan Sk, and Ho Ws
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Proband ,medicine.medical_specialty ,Molecular Sequence Data ,QT interval ,Germline ,Asian People ,Muscular Diseases ,Myofibrils ,Internal medicine ,Genetics ,medicine ,Humans ,Restrictive lung disease ,Amino Acid Sequence ,Family history ,Child ,Genetics (clinical) ,Adaptor Proteins, Signal Transducing ,Asthma ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Hypertrophic cardiomyopathy ,medicine.disease ,Mutation ,Cardiology ,Female ,Apoptosis Regulatory Proteins ,business - Abstract
In contrast to the usual slow disease progression in myofibrillar myopathies, patients with Bag3opathy often have a rapidly progressive and more severe phenotype with a worse prognosis. We describe a Chinese patient, born to non-consanguineous parents, who first presented at age 6 with clumsy walking and difficult climbing staircase. With a history of restrictive lung disease previously diagnosed as asthma, she progressed rapidly with proximal myopathy, rigid spine and bilateral tightening of the Achilles tendons requiring surgical elongation. Hypertrophic cardiomyopathy with restrictive physiology was shown by echocardiogram. Moreover, prolonged QT interval was also noted in the patient. Family history was unremarkable yet her father was incidentally found to have prolonged QT interval. Mutation analysis with genomic DNA of the proband showed heterozygous de novo known mutation c.626C>T (p.Pro209Leu) and a germline variation c.772C>T (p.Arg258Trp) in BAG3. Her father was found to be a carrier of c.772C>T. Muscle biopsy findings were suggestive of myofibrillar myopathy on light microscopy and ultrastructural studies. To our knowledge, this is the first Chinese case of Bag3opathy so far reported.
- Published
- 2011
3. Noise level and its influences on dental professionals in a dental hospital in Hong Kong
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Ai, ZT, primary, Mak, CM, additional, and Wong, HM, additional
- Published
- 2017
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4. Effect of balconies and upper–lower vents on ventilation and indoor air quality in a wind-induced, naturally ventilated building
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Cui, DJ, primary, Mak, CM, additional, and Niu, JL, additional
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- 2013
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5. Pollutant dispersion in a natural ventilated dental clinic
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Zhang, W, primary, Mak, CM, additional, and Wong, HM, additional
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- 2012
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6. The effect of sound on office productivity
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Mak, CM, primary and Lui, YP, additional
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- 2011
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7. The assessment of the performance of balconies using computational fluid dynamics
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Ai, ZT, primary, Mak, CM, additional, Niu, JL, additional, and Li, ZR, additional
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- 2011
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8. Effect of balconies on thermal comfort in wind-induced, naturally ventilated low-rise buildings
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Ai, ZT, primary, Mak, CM, additional, Niu, JL, additional, and Li, ZR, additional
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- 2011
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9. The theoretical fundamentals of an adaptive active control using periodic Helmholtz resonators for duct-borne transmission noise in ventilation systems
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Yun, Y, primary and Mak, CM, additional
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- 2011
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10. Measurement and prediction of road traffic noise at different building floor levels in Hong Kong
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Mak, CM, primary, Leung, WK, additional, and Jiang, GS, additional
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- 2010
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11. Normalised spectrum for flow-generated noise prediction using computational fluid dynamics
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Mak, CM, primary and Au, KC, additional
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- 2009
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12. Prediction of flow-generated noise produced by an in-duct spoiler in a ventilation system using CIBSE Guide B5 methods
- Author
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Mak, CM, primary, Ye, C., additional, Wu, J., additional, and Yang, J., additional
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- 2009
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13. A performance indicator for vibration isolation of building services equipment
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Mak, CM, primary and Tse, CP, additional
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- 2004
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14. Effect of balconies and upper–lower vents on ventilation and indoor air quality in a wind-induced, naturally ventilated building.
- Author
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Cui, DJ, Mak, CM, and Niu, JL
- Subjects
BALCONIES ,VENTILATION ,INDOOR air quality ,COMPUTATIONAL fluid dynamics ,POLLUTANTS ,DWELLINGS ,ARCHITECTURAL acoustics - Abstract
Balconies are green features commonly used in residential buildings to improve natural ventilation and air quality. Small vents, if mounted with an acoustic silencer, can reduce noise penetration while still allowing natural ventilation to occur. In this study, the computational fluid dynamics method is used to investigate numerically the effect of balconies with small upper and lower vents on the ventilation and air quality of the 4th, 5th and 6th floors of a 10-storey building. The results show that balconies can significantly increase the natural ventilation on these floors and generally have a more positive effect on the improvement of natural ventilation and the reduction in pollutant concentration on the floor on which they are located rather than on the levels above or below.Practical application: This study will help designers and engineers understand more about the effect of balconies and lower and upper vents on natural ventilation and indoor air quality in buildings. This study will also help them to incorporate with confidence the design of balconies with lower and upper vents. [ABSTRACT FROM PUBLISHER]
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- 2014
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15. Prediction of the sound transmission loss of a stiffened window.
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Ou, DY, Mak, CM, and Deng, SM
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TRANSMISSION of sound ,BOUNDARY element methods ,FINITE element method ,BOUNDARY value problems ,PARAMETRIC processes ,ELASTICITY - Abstract
The sound transmission loss of a stiffened window was investigated using a coupled finite element and boundary element method. This approach allowed the window to have arbitrary elastic boundary conditions and the stiffeners to be located at arbitrary positions inside the window. The in-plane deformation of the window was also taken into account. The natural frequencies predicted by the present approach showed good agreement with earlier published results. The prediction method was subsequently applied to parametric studies examining the effects of stiffeners on the sound transmission loss of a window. The results showed that the stiffeners (or their locations) notably influenced the window’s sound transmission loss values, thereby demonstrating the possibility of using stiffeners to improve the sound insulation of a practical window.Practical applications: This study provides an approach that can be used to predict the sound insulation of a window with arbitrary elastic boundary conditions and with any-shape stiffeners lying anywhere inside the window. This approach can also be used to guide the design of windows (or other plate-like building structures) with better sound insulation. [ABSTRACT FROM PUBLISHER]
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- 2013
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16. Pollutant dispersion in a natural ventilated dental clinic.
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Zhang, W, Mak, CM, and Wong, HM
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POLLUTANTS ,NATURAL ventilation ,DENTAL clinics ,RENEWABLE energy sources ,ENERGY consumption ,COMPUTATIONAL fluid dynamics - Abstract
Mechanical ventilation poses some challenges for control of pollutants in a fully enclosed dental clinic. Natural ventilation is used in some clinics because of its high exhausting efficiency and low non-renewable energy consumption. In this study, a dental clinic model was built using a computational fluid dynamics platform. The objective was to study the effect of natural ventilation on pollutant dispersion in this setting. The evaluations were conducted using the advanced turbulence model, large eddy simulation for the flow field and the discrete phase modelling for pollutant tracks. Three basic ventilation paths were identified, the ‘single narrow path’, ‘narrow path’ and ‘dispersive path’. The results show that the first of these had the highest efficiency, with an escape time of about 1/30 and 1/100 of the narrow and dispersive paths, respectively. Despite the position of the pollutant source and facilities such as bulkheads, escape time was significantly reduced when the ventilation flow rate was increased under the single narrow and dispersive paths. However, for the narrow path, these factors played a more dominant role in the escape time than the ventilation flow rate.Practical application: This study is expected to provide information and guidance in understanding the pollutant spread in a naturally ventilated room such as a dental clinic. [ABSTRACT FROM AUTHOR]
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- 2013
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17. The theoretical fundamentals of an adaptive active control using periodic Helmholtz resonators for duct-borne transmission noise in ventilation systems.
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Yun, Y and Mak, CM
- Subjects
ACTIVE noise control ,VENTILATION ,ADAPTIVE control systems ,HELMHOLTZ resonators ,TECHNOLOGICAL innovations ,NUMERICAL analysis ,LABORATORIES - Abstract
This article theoretically proposes an innovative semi-active noise control method for the control of duct-borne transmission noise. This method is designed to be a more efficient, robust and broad-band adaptive attenuating effect than the traditional pass noise control methods used in duct-borne sound control. Based on the fundamental theory on the pass-stop band structure of sound waves propagating in a one-dimensional periodic duct system, the proposed control method combines band-gap attenuation using the side-branch resonators array with the auto-adaptive system of noise control. Using this method in the simulation and analysis, the transmission noise in an air duct can be effectively controlled in relatively wide bands by periodic alternate resonators of small variable parameters. The developed semi-active control method is numerically designed to efficiently reduce the duct-borne transmission noise at frequencies around a variable major tone in various working conditions.Practical applications: The proposed semi-active noise control method with band-gap attenuation of a periodic adaptive resonator array is generally an efficient, robust and broad-band noise control system. It has the potential to be used to control duct-borne transmission noise in order to satisfy stringent indoor acoustical requirements such as those of the indoor air-conditioned environments of a hospital, a scientific laboratory, a council hall and a living room. [ABSTRACT FROM PUBLISHER]
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- 2013
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18. The effect of sound on office productivity.
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Mak, CM and Lui, YP
- Subjects
OFFICE building air conditioning ,LABOR productivity ,PHYSIOLOGICAL effects of sound ,OFFICE design & construction ,NOISE pollution - Abstract
This article reports the results of a questionnaire survey examining the effects of sound on office productivity and assessing the relationship between changes in office productivity and noise sources as well as five environmental and office design factors, namely temperature, air quality, office layout, sound and lighting. The convenience sample for the survey comprised 259 office workers in 38 air-conditioned offices in Hong Kong. The subjects were requested to complete the questionnaires themselves. The results show that among the five environmental and office design factors examined, sound and temperature were the principal factors affecting office productivity. A strong and significant correlation was also found between changes in office productivity and sound, temperature and office layout. Participants were separated into low- and high-productivity groups using the mean productivity score of all participants as the cut-point. The three most annoying noise sources, including conversation, ringing phones and machines, differed little in mean annoyance scores for the low- and high-productivity participants, indicating that they had a significant negative impact on all participants. The results also indicate that low-productivity participants were easily influenced by noises such as background noise, closing doors, and human activity, as well as those coming from both inside and outside the office.Practical applications: This study evaluates the effects of sound and other environmental and office design factors on office productivity. It suggests that sound is a principal factor affecting office productivity in modern air-conditioned offices. [ABSTRACT FROM PUBLISHER]
- Published
- 2012
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19. BAG3-related myofibrillar myopathy in a Chinese family.
- Author
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Lee, HC, Cherk, SW, Chan, SK, Wong, S, Tong, TW, Ho, WS, Chan, AY, Lee, KC, and Mak, CM
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MYOFIBRILS ,MUSCLE diseases ,CHINESE people ,DISEASE progression ,ACHILLES tendon injury treatment ,CARDIAC hypertrophy ,ECHOCARDIOGRAPHY ,DISEASES - Abstract
Lee HC, Cherk SW, Chan SK, Wong S, Tong TW, Ho WS, Chan AY, Lee KC, Mak CM. BAG3-related myofibrillar myopathy in a Chinese family. In contrast to the usual slow disease progression in myofibrillar myopathies, patients with Bag3opathy often have a rapidly progressive and more severe phenotype with a worse prognosis. We describe a Chinese patient, born to non-consanguineous parents, who first presented at age 6 with clumsy walking and difficult climbing staircase. With a history of restrictive lung disease previously diagnosed as asthma, she progressed rapidly with proximal myopathy, rigid spine and bilateral tightening of the Achilles tendons requiring surgical elongation. Hypertrophic cardiomyopathy with restrictive physiology was shown by echocardiogram. Moreover, prolonged QT interval was also noted in the patient. Family history was unremarkable yet her father was incidentally found to have prolonged QT interval. Mutation analysis with genomic DNA of the proband showed heterozygous de novo known mutation c.626C>T (p.Pro209Leu) and a germline variation c.772C>T (p.Arg258Trp) in BAG3. Her father was found to be a carrier of c.772C>T. Muscle biopsy findings were suggestive of myofibrillar myopathy on light microscopy and ultrastructural studies. To our knowledge, this is the first Chinese case of Bag3opathy so far reported. [ABSTRACT FROM AUTHOR]
- Published
- 2012
- Full Text
- View/download PDF
20. A four-part setting on examining the anxiety-provoking capacity of the sound of dental equipment.
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Wong HM, Mak CM, and Xu YF
- Published
- 2011
21. Experimental study on fabric water repellency using nanotechnology
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Yuen, Cwm, YI LI, Ku, Sk, Mak, Cm, and Kan, Cw
22. G414(P) Always events: lessons in paediatric care
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Mak, CM, Fenn, DWF, and Shanmugalingam, SS
- Abstract
Aims‘Always Events’ is a framework of practice that aims to improve patient experience through positive goal-setting in a person- and family-centred approach. Through partnering with patients and their families, the aim is to identify fundamental behaviours that should be performed by the healthcare system for every patient, every time1.The aim of this study was to explore families’ experience of their inpatient journey to inform the development of Always Events guidelines with the ultimate goal of enhancing families’ experience of care.MethodsWe conducted one to one structured parent interviews exploring aspects the parents or their child had experienced while on either the general paediatric or neonatal ward. The interviews and questions were designed to encourage open discussion focusing on the patients’ journey in the department from admission to discharge, aimed at identifying practices that could be integrated as Always Events. Responses were transcribed, collated and coded.Results23 interviews were conducted: 9 from the general paediatric population and 14 from the neonatal unit. The responses were positive, with all parents reporting a high level of care and appreciating being asked what mattered to them. Themes considered to be key in improving their experience included honest and informed communication (both staff to staff and staff to parent), collaborative and practical understanding of care (parental education, familiarisation of the unit before and during admission, and comprehensive discharge decision making), and the creation of a safe and comfortable environment. Parents on the neonatal unit also cited peer support as highly valuable.ConclusionThis pilot study highlighted the value of engaging families in establishing potential Always Events within the paediatric department. Two benefits emerged: firstly, parents enjoyed providing feedback and found the process rewarding; secondly, it identified valuable experiences relating to everyday care which could be explored further and used to develop fundamental principles. Our next stage is to explore these themes through multi-professional and parental focus groups with the aim of co-designing and implementing Always Events.Reference. A focus on ‘always events’. Improving Patient Care.Institute for Healthcare Improvement, 2014.
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- 2018
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23. Propagation and evaporation of contaminated droplets, emission and exposure in surgery environments revealed by laser visualization and numerical characterization.
- Author
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Li X, Mak CM, Ai Z, Ma KW, and Wong HM
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- Humans, Operating Rooms, Lasers, Temperature, Aerosols analysis, Models, Theoretical, Occupational Exposure analysis, Occupational Exposure prevention & control, Disinfection methods, Humidity
- Abstract
The contaminated liquid mixture containing mucosalivary fluid and blood would be aerosolized during medical procedures, resulting in higher-risk exposures. The novelty of this research is integrating laser visualization and numerical characterization to assess the propagation and evaporation of contaminated droplets, and the interactive effects of humidity and temperature on exposure risks will be numerically evaluated in surgery environments. The numerical model evidenced by experiments can predict the mass balance of ejection droplets, the minimum required fallow time (FT) between appointments, and the disinfection region of greatest concern. Around 98.4 % of the ejection droplet mass will be removed after the cessation of ultrasonic scaling, while the initial droplet size smaller than 72.6μm will dehydrate and become airborne. The FT recommendation of 30 min is not over-cautious, and the extended FT (range of 28-37 min) should be instituted for low temperature (20.5 °C) and high humidity levels (60 %RH). The variation of the temperature and humidity in the range for human thermal comfort has little influence on the area of the disinfection region (0.15m
2 ) and the cut-off size (72.6μm) of droplet deposition and suspension. This research can provide scientific evidence for the guidelines of environmental conditions in surgery rooms., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)- Published
- 2024
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24. A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency.
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Wong CL, Hung LY, Siu WKC, Tam VHK, and Mak CM
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Summary: Low high-density lipoprotein cholesterol (HDL-C) is a risk factor for cardiovascular disease. Very low HDL-C levels (less than 20 mg/dL), however, were uncommonly seen and can be due to genetic defects involving the metabolic pathway of high-density lipoprotein (HDL). We encountered a 50-year-old Chinese man who was only noticed to have extremely low HDL-C levels after surviving recurrent episodes of myocardial infarction. Further workup revealed the undetectable level of apolipoprotein A-I, the absence of HDL on gel electrophoresis, and a novel heterozygous splicing variant in the ABCA1 gene, which was predicted to be pathogenic by in silico analysis. To the best of our knowledge, this is the first reported Hong Kong Chinese with ABCA1 deficiency and probable Tangier disease. The association of ABCA1 deficiency/Tangier disease and accelerated atherosclerosis is discussed., Learning Points: Clinicians should be aware of the differential diagnoses of very low HDL-C, which could be divided into genetic and acquired causes. Genetic low HDL syndromes include apoA-I deficiency, Tangier disease, and familial LCAT deficiency, each of which has characteristic clinical features and can be differentiated from the other further by apoA-I measurement, lipoprotein analysis, and genetic testing. Patients with ABCA1 deficiency and Tangier disease are at risk of premature coronary artery disease and should be aggressively screened and treated for cardiovascular risk factors and established cardiovascular diseases. Revascularization strategy and indications for coronary artery bypass grafting in patients with Tangier disease and coronary artery disease follow that as for patients without Tangier disease.
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- 2024
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25. Computer-assisted patient identification tool in inborn errors of metabolism - potential for rare disease patient registry and big data analysis.
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Mak CM, Woo PPS, Song FE, Chan FCH, Chan GPY, Pang TLF, Au BSC, Chan TCH, Chong YK, Law ECY, and Lam CW
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- Humans, Algorithms, Data Analysis, Male, Female, Registries, Rare Diseases diagnosis, Big Data, Metabolism, Inborn Errors diagnosis
- Abstract
Background: Patient registries are crucial for rare disease management. However, manual registry construction is labor-intensive and often not user-friendly. Our goal is to establish Hong Kong's first computer-assisted patient identification tool for rare diseases, starting with inborn errors of metabolism (IEM)., Methods: Patient data from 2010 to 2019 was retrieved from electronic databases. Through big data analytics, patient data were filtered based on specific IEM-related biochemical and genetic tests. Clinical notes were analyzed using a rule-based natural language processing technique called regular expression. The algorithm classified each extracted paragraph as "IEM-related" or "not IEM-related." Pathologists reviewed the paragraphs for curation, and the algorithm's performance was evaluated., Results: Out of 46,419 patients with IEM-related tests, the algorithm identified 100 as "IEM-related." After pathologists' validation, 96 cases were confirmed as true IEM, with 1 uncertain case and 3 false positives. A secondary ascertainment yielded a sensitivity of 92.3% compared to our previously published IEM cohort., Conclusions: Our artificial intelligence approach provides a novel method to identify IEM patients, facilitating the creation of a centralized, computer-assisted rare disease patient registry at the local and national levels. This data can potentially be accessed by multiple stakeholders for collaborative research and to enhance healthcare management for rare diseases., (Copyright © 2024. Published by Elsevier B.V.)
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- 2024
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26. Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong.
- Author
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Hung LY, Mak CM, Foo KC, Chan CHT, Tong HF, Wong TK, Leung HS, Cheung KC, Lee HCH, and Ching CK
- Abstract
Background Inborn errors of metabolism (IEM) are collectively rare but potentially preventable causes of sudden unexpected death (SUD) in infancy or childhood, and metabolic autopsy serves as the final tool for establishing the diagnosis. We conducted a retrospective review of the metabolic and molecular autopsy on SUD and characterized the biochemical and genetic findings. Methodology A retrospective review of postmortem metabolic investigations (dried blood spot acylcarnitines and amino acid analysis, urine metabolic profiling where available, and next-generation sequencing on a panel of 75 IEM genes) performed for infants and children who presented with SUD between October 2016 and December 2021 with inconclusive autopsy findings or autopsy features suspicious of underlying IEM in our locality was conducted. Clinical and autopsy findings were reviewed for each case. Results A total of 43 infants and children aged between zero days to 10 years at the time of death were referred to the authors' laboratories throughout the study period. One positive case of multiple acyl-CoA dehydrogenase deficiency was diagnosed. Postmortem reference intervals for dried blood spot amino acids and acylcarnitines profile were established based on the results from the remaining patients. Conclusions Our study confirmed the importance of metabolic autopsy and the advantages of incorporating biochemical and genetic testing in this setting., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Hung et al.)
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- 2024
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27. Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.
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Belaramani KM, Chan TCH, Hau EWL, Yeung MCW, Kwok AMK, Lo IFM, Law THF, Wu H, Wong SSN, Lam SW, Ha GHY, Lau TPY, Wong TK, Or VWC, Wong RMS, Ming WL, Chow JCK, Yau EKC, Fu A, Chong JSC, Yau HC, Poon GWK, Ng KL, Chan KT, Lam YY, Hui J, Mak CM, and Fung CW
- Abstract
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020. The number of conditions screened for increased from 21 to 24 in April 2016 and then to 26 in October 2019. The overall recruitment rate of the NBS program was 99.5%. In the period between October 2015 and December 2022, 125,688 newborns were screened and 295 were referred back for abnormal results. The recall rate was reduced from 0.26% to 0.12% after the implementation of second-tier testing. An inherited metabolic disorder (IMD) was eventually confirmed in 47 infants, making the prevalence of IMD in Hong Kong 1 in 2674. At the time of the NBS result, 78.7% of the newborns with IMD were asymptomatic. There were two deaths reported: one newborn with methylmalonic acidemia cobalamin B type (MMACblB) died after the initial crisis and another case of carnitine palmitoyltransferase II deficiency (CPTII) died at 18 months of age after metabolic decompensation. The most common IMD noted were disorders of fatty acid oxidation metabolism (40%, 19 cases), closely followed by disorders of amino acid metabolism (38%, 18 cases), with carnitine uptake defect (19.1%, 9 cases) and citrullinemia type II (17%, 8 cases) being the two most common IMD picked up by the NBSIEM in Hong Kong. Out of the all the IMDs identified, 19.1% belonged to diverse ethnic groups. False negative cases were reported for citrullinemia type II and congenital adrenal hyperplasia during this period.
- Published
- 2024
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28. Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
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Chan TCH, Mak CM, Yeung MCW, Law EC, Cheung J, Wong TK, Cheng VW, Lee JKH, Wong JCL, Fung CW, Belaramani KM, Kwok AMK, and Tsang KY
- Abstract
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 the period of 1 September 2021 to 31 August 2022 for the newborn screening (NBS) of six conditions for inborn errors of metabolism: citrullinemia type II (MIM #605814), systemic primary carnitine deficiency (MIM #212140), glutaric acidemia type I (MIM #231670), beta-ketothiolase deficiency (#203750), holocarboxylase synthetase deficiency (MIM #253270) and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (MIM # 246450). The custom-designed NGS panel can detect sequence variants in the relevant genes and also specifically screen for the presence of the hotspot variant IVS16ins3kb of SLC25A13 by the copy number variant calling algorithm. Genetic second-tier tests were performed for 1.8% of a total of 22,883 NBS samples. The false positive rate for these six conditions after the NGS second-tier test was only 0.017%, and two cases of citrullinemia type II would have been missed as false negatives if only biochemical first-tier testing was performed. The confirmed true positive cases were citrullinemia type II ( n = 2) and systemic primary carnitine deficiency ( n = 1). The false positives were later confirmed to be carrier of citrullinemia type II ( n = 2), carrier of glutaric acidemia type I ( n = 1) and carrier of systemic primary carnitine deficiency ( n = 1). There were no false negatives reported. The incorporation of a second-tier genetic screening test by NGS greatly enhanced our program's performance with 5-working days turn-around time maintained as before. In addition, early genetic information is available at the time of recall to facilitate better clinical management and genetic counseling.
- Published
- 2024
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29. The underestimated power of cooked meat in affecting plasma creatinine level: three case reports.
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So CY, Chan TCH, Yuet KY, Chan EYH, Chow TTW, Yeung MCW, Ma ALT, Cheng FWT, and Mak CM
- Subjects
- Humans, Creatinine, Meat, Cooking
- Abstract
Competing Interests: All authors have disclosed no conflicts of interest.
- Published
- 2023
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30. Association of Red Meat Intake and Colorectal Cancer among East-Asians: A Systematic Review and Meta-analysis of Observational Studies Performed between 2011-2021.
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Cheung HS, Lu LY, So WL, Wong HW, Wong SH, and Mak CM
- Abstract
Background and Aims: Colorectal cancer has the third highest incidence and second highest mortality among all cancers worldwide. Although numerous studies investigating the associations between high red meat intake and risk of colorectal cancer have been published, the association between the intake of red meat and the risk of colorectal cancer in Asians remains unclear. We performed a systematic review and meta-analysis of cohort and case-control studies to estimate the association between red meat intake and colorectal cancer incidence rate between 2011-2021., Method: We searched PubMed database from 1 Jan 2011 to 21 July 2021. Prospective cohort studies and nested case-control studies that reported results on the association between red meat consumption and colorectal cancer were included in the meta-analysis. The outcome of interest was the association between the intake of red meat and the risk of colorectal cancer. We performed a meta-analysis to calculate the odds ratios (OR) with 95% confidence intervals (CI)., Results: A total of 5 studies enrolling 48,158 participants were included. The results showed no significant association between red meat intake and colorectal cancer risks (OR=1.38; 95%CI: 0.98-1.93). The aspect of the corresponding funnel plot suggested the presence of significant publication bias. Egger's test confirmed the significant asymmetry of the funnel plot (t = 9.3024, p = 0.0026)., Conclusions: Contrary to many other meta-analyses, our study showed that intake of red meat was not associated with increased risk of colorectal cancer in East-Asians from China, Japan and South Korea. However, due to the limited number of included papers and the lack of confounders adjustments, our results warrant cautious interpretations.
- Published
- 2023
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31. Numerical Analysis of the Mitigation Performance of a Buried PT-WIB on Environmental Vibration.
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Gao L, Cai C, Li C, and Mak CM
- Abstract
Environmental vibration pollution has serious negative impacts on human health. Among the various contributors to environmental vibration pollution in urban areas, rail transit vibration stands out as a significant source. Consequently, addressing this issue and finding effective measures to attenuate rail transit vibration has become a significant area of concern. An infilled trench can be arranged periodically along the propagation paths of the waves in the soil to attenuate vibration waves in a specific frequency range. However, the periodic infilled trench seems to be unsatisfactory for providing wide band gaps at low and medium frequencies. To improve the isolation performance of wave barriers at low to medium frequencies, a buried PT-WIB consisting of a periodic infilled trench and a wave impedance block barrier has been proposed in this paper. A three-dimensional finite element model has been developed to evaluate the isolation performance of three wave barriers. The influence of the PT-WIB's parameters on isolation performance has been analyzed. The results indicate that the combined properties of the periodic structure and the wave impedance block barrier can effectively achieve a wide attenuation zone at low and medium frequencies, enhancing the isolation performance for mitigating environmental vibration pollution.
- Published
- 2023
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32. Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.
- Author
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Belaramani KM, Fung CW, Kwok AMK, Lee SYR, Yau EKC, Luk HM, Mak CM, Yeung MCW, and Ngan OMY
- Abstract
Dried blood spot (DBS) cards from newborn screening (NBS) programs represent a wealth of biological data. They can be stored easily for a long time, have the potential to support medical and public health research, and have secondary usages such as quality assurance and forensics, making it the ideal candidate for bio-banking. However, worldwide policies vary with regard to the duration of storage of DBS cards and how it can be used. Recent advances in genomics have also made it possible to perform extended genetic testing on DBS cards in the newborn period to diagnose both actionable and non-actionable childhood and adult diseases. Both storage and secondary uses of DBS cards raise many ethical, clinical, and social questions. The openness of the key stakeholders, namely, parents and healthcare providers (HCPs), to store the DBS cards, and for what duration and purposes, and to extended genetic testing is largely dependent on local cultural-social-specific factors. The study objective is to assess the parents' and HCPs' awareness and receptivity toward DBS retention, its secondary usage, and extended genetic testing. A cross-sectional, self-administrated survey was adopted at three hospitals, out of which two were public hospitals with maternity services, between June and December 2022. In total, 452 parents and 107 HCPs completed and returned the survey. Overall, both HCPs and parents were largely knowledgeable about the potential benefits of DBS card storage for a prolonged period and its secondary uses, and they supported extended genetic testing. Knowledge gaps were found in respondents with a lower education level who did not know that a DBS card could be stored for an extended period ( p < 0.001), could support scientific research ( p = 0.033), and could aid public health research, and future policy implementation ( p = 0.030). Main concerns with regard to DBS card storage related to potential privacy breaches and anonymity (Parents 70%, HCPs 60%). More parents, compared to HCPs, believed that storing DBS cards for secondary research does not lead to a reciprocal benefit to the child ( p < 0.005). Regarding extended genetic testing, both groups were receptive and wanted to know about actionable childhood- and adult-onset diseases. More parents (four-fifths) rather than HCPs (three-fifths) were interested in learning about a variant with unknown significance ( p < 0.001). Our findings report positive support from both parents and HCPs toward the extended retention of DBS cards for secondary usage and for extended genetic testing. However, more efforts to raise awareness need to be undertaken in addition to addressing the ethical concerns of both parents and HCPs to pave the way forward toward policy-making for DBS bio-banking and extended genetic testing in Hong Kong.
- Published
- 2023
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33. Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.
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Chen GX, Barajas-Martínez H, Ciconte G, Wu CI, Monasky MM, Xia H, Li B, Capra JA, Guo K, Zhang ZH, Chen X, Yang B, Jiang H, Tse G, Mak CM, Aizawa Y, Gollob MH, Antzelevitch C, Wilde AAM, Pappone C, and Hu D
- Subjects
- Female, United States, Humans, Arrhythmias, Cardiac genetics, NAV1.5 Voltage-Gated Sodium Channel genetics, Mutation, Missense, Brugada Syndrome etiology, Brugada Syndrome genetics
- Abstract
Background: Brugada syndrome (BrS) is a severe inherited arrhythmia syndrome that can be unmasked by fever., Methods: A multicentre clinical analysis was performed in 261 patients diagnosed with fever-induced BrS, including 198 (75.9%) and 27 (10.3%) patients who received next-generation genetic sequencing and epicardial arrhythmogenic substrate (AS) mapping, respectively., Findings: In fever-induced BrS patients, pathogenic or likely pathogenic (P/LP) SCN5A variant carriers developed fever-induced BrS at a younger age, and more often in females and those of Caucasian descent. They exhibited significant electrophysical abnormalities, including a larger epicardial AS area, and more prolonged abnormal epicardial electrograms. During a median follow-up of 50.5 months (quartiles 32.5-81.5 months) after the diagnosis, major cardiac events (MCE) occurred in 27 (14.4%) patients. Patients with P/LP SCN5A variants had a higher ratio of MCE compared with the rest. Additionally, history of syncope, QRS duration, and Tpe interval could also predict an increased risk for future MCE according to univariate analysis. Multivariate analysis indicated that only P/LP SCN5A variants were independent significant predictors of MCE. Computational structural modelling showed that most variants are destabilizing, suggesting that Nav1.5 structure destabilization caused by SCN5A missense variants may contribute to fever-induced BrS., Interpretation: In our cohort, P/LP SCN5A variant carriers with fever-induced BrS are more prevalent among patients of Caucasian descent, females, and younger patients. These patients exhibit aggressive electrophysiological abnormalities and worse outcome, which warrants closer monitoring and more urgent management of fever., Funding: The current work was supported by the National Natural Science Foundation Project of China (Nos. 82270332 & 81670304), The Fundamental Research Funds for the Central Universities of China - Independent Research Project of Wuhan University (No. 2042022kf1217) from China; the National Institutes of Health of USA [NIH R56 (HL47678), NIH R01 (HL138103), and NIH R01 (HL152201)], the W. W. Smith Charitable Trust and the Wistar and Martha Morris Fund, Sharpe-Strumia Research Foundation, the American Heart Association Postdoctoral Fellowship (20POST35220002) from United States; the Netherlands CardioVascular Research Initiative: the Dutch Heart Foundation, Dutch Federation of University Medical Centers, the Netherlands Organization for Health Research and Development, and the Royal Netherlands Academy of Sciences (PREDICT2) from the Netherlands., Competing Interests: Declaration of interests Dr. Antzelevitch served as a consultant and received grant funds from Novartis and Trevena Inc. Dr. Wilde served as a consultant for LQTtherapeutics. All other authors report no relationships to disclose., (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2023
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34. An Infinity Tube with an Expansion Chamber for Noise Control in the Ductwork System.
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Xue R, Mak CM, Cai C, and Ma KW
- Abstract
This paper proposes a muffler with simple geometry to effectively reduce low-frequency noise in ductwork systems. A muffler named infinity tube with an expansion chamber (ITEC) is developed from the infinity tube (IT). Theoretical and numerical analyses of wave propagation in the ITEC have been conducted in this paper. The transfer matrix method is adopted to predict transmission loss theoretically. The theoretical results are validated by the finite element method simulation. The comparison of the transmission loss between the IT and ITEC illustrates that the ITEC has an advantage in low-frequency noise reduction. The transmission loss results of the ITEC are compared with the Helmholtz resonator system to assess the potential for industrial application. Finally, the geometric parameters of the proposed ITEC on its noise attenuation performance have been analyzed. The proposed ITEC can effectively reduce low-frequency noise, and it is suitable for ductwork systems in constrained spaces.
- Published
- 2022
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35. Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots-Reinstate the Potential Use for Newborn Screening of Wilson Disease.
- Author
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Mak CM, Choi CT, Wong TK, Chin HH, Lai HKY, and Yuet KY
- Abstract
In this study, we modified a fully automatic immunoassay on ceruloplasmin concentration on dried blood spots (DBS) to increase its analytical sensitivity in order to accurately differentiate newborns from true Wilson disease (WD) patients. Modifications to the assay parameters of the Roche/Hitachi Cobas c systems immunoturbidimetric assay are adjusted to lower the limit of quantitation to 0.60 mg/L from 30 mg/L. This enables sensitive measurement of ceruloplasmin in eluent after DBS extraction. In addition, reference intervals and receiver operating characteristic curve analysis for diagnostic cut-off were established using DBS of neonates and WD adult patients. After DBS whole blood calibration, the 95th percentile of the reference interval for newborns was 86-229 mg/L. The cut-off value of 54 mg/L was found to be the most optimal point for differentiating true adult WD from newborn controls. This test shows a high area under curve of 1.000 with 100% sensitivity and specificity in differentiating normal newborns from WD adult samples. However, the results should be further validated with true newborn WD patient samples together with the consideration of other factors that can also lead to low ceruloplasmin levels. This test shows application potential in newborn screening for WD, which can save lives through early identification and timely treatment.
- Published
- 2022
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36. Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey.
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Loh TP, Greaves RF, Mak CM, Salomons GS, Bonham JR, and Lang T
- Abstract
Objective: Pediatric laboratory medicine is a unique practice serving a vulnerable group of patients including highly specialized testing aiming to detect and treat inherited conditions early to avoid adverse outcomes. Data on the actual impact of COVID-19 pandemic on this speciality is lacking., Methods: A survey was conducted by the IFCC Committee on Emerging Technologies in Pediatric Laboratory Medicine in partnership with the Society for the Study of Inborn Errors of Metabolism and International Society for Neonatal Screening, to assess the impact on the clinical service provision during the initial wave (January to July 2020) of the COVID-19 pandemic and to gather experiences learned in order to improve laboratory preparedness for future outbreaks., Results: 217 survey responses were received from 69 regions. Sixty-three laboratories (29%) reported a restriction or suspension of service for a median period of four months. The common tests/ services suspended were new-born screening program, body fluids and sweat testing. The reasons for the suspension were related to bio-safety risks of COVID-19 transmission, manpower constraints and supplies disruption. A minority (9-10%) of laboratories did observe delayed/missed diagnoses or a more severe presentation of a clinical disorder. The critical operational decisions that helped manage the initial wave of COVID-19 included modifying work shift patterns, split-teams arrangement, use of personal protection equipment and social distancing., Conclusion: The provision and delivery of pediatric laboratories services were affected during the initial wave of the COVID-19 pandemic. Manpower preparedness for future potential disruptions to pediatric laboratory services is a key finding and recommendation from this survey., Competing Interests: We wish to acknowledge and thank Mrs. Silvia Collie-Lanzi from the IFCC Office for her support in building of the questionnaire in Survey Monkey and her attention to detail in the delivery of support services to the C-ETPLM, as well as Mr. Nick Law from SSIEM for the assistance in disseminating the survey questionnaire., (Copyright © 2022 International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). All rights reserved.)
- Published
- 2022
37. A Territory-Wide Study of Arrhythmogenic Right Ventricular Cardiomyopathy Patients from Hong Kong.
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Lakhani I, Zhou J, Lee S, Li KHC, Leung KSK, Hui JMH, Lee YHA, Li G, Liu T, Wong WT, Wong ICK, Mok NS, Mak CM, Zhang Q, and Tse G
- Abstract
Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a hereditary disease characterized by fibrofatty infiltration of the right ventricular myocardium that predisposes affected patients to malignant ventricular arrhythmias, dual-chamber cardiac failure and sudden cardiac death (SCD). The present study aims to investigate the risk of detrimental cardiovascular events in an Asian population of ARVC/D patients, including the incidence of malignant ventricular arrhythmias, new-onset heart failure with reduced ejection fraction (HFrEF), as well as long-term mortality., Methods and Results: This was a territory-wide retrospective cohort study of patients diagnosed with ARVC/D between 1997 and 2019 in Hong Kong. This study consisted of 109 ARVC/D patients (median age: 61 [46-71] years; 58% male). Of these, 51 and 24 patients developed incident VT/VF and new-onset HFrEF, respectively. Five patients underwent cardiac transplantation, and 14 died during follow-up. Multivariate Cox regression identified prolonged QRS duration as a predictor of VT/VF ( p < 0.05). Female gender, prolonged QTc duration, the presence of epsilon waves and T-wave inversion (TWI) in any lead except aVR/V1 predicted new-onset HFrEF ( p < 0.05). The presence of epsilon waves, in addition to the parameters of prolonged QRS duration and worsening ejection fraction predicted all-cause mortality ( p < 0.05). Clinical scores were developed to predict incident VT/VF, new-onset HFrEF and all-cause mortality, and all were significantly improved by machine learning techniques., Conclusions: Clinical and electrocardiographic parameters are important for assessing prognosis in ARVC/D patients and should in turn be used in tandem to aid risk stratification in the hospital setting., Competing Interests: The authors declare no conflict of interest. Gary Tse, Sharen Lee and Tong Liu are serving as one of the Guest Editors of this journal. We declare that Gary Tse, Sharen Lee and Tong Liu had no involvement in the peer review of this article and has no access to information regarding its peer review. Full responsibility for the editorial process for this article was delegated to Stefan Peters., (Copyright: © 2022 The Author(s). Published by IMR Press.)
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- 2022
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38. In-house multiplex ligation-dependent probe amplification assay for citrin deficiency: analytical validation and novel exonic deletions in SLC25A13.
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Lau NKC, Lee HHC, Chen SPL, Ng CWY, Mak CM, Chong YK, Tong TTY, Leung MT, Shek CC, Yuen YP, and Ching CK
- Subjects
- Citrullinemia genetics, Citrullinemia pathology, Exons genetics, Genetic Testing, Humans, Infant, Newborn, Multiplex Polymerase Chain Reaction, Sequence Deletion, Citrullinemia diagnosis, DNA Copy Number Variations, Mitochondrial Membrane Transport Proteins genetics
- Abstract
Citrin deficiency is one of the most common inborn errors of metabolism in East Asians, which may manifest as neonatal cholestasis, failure to thrive and dyslipidaemia, or recurrent hyperammonaemic encephalopathy. Its molecular diagnosis requires confirmation of the presence of biallelic pathogenic variants in SLC25A13 gene by sequencing, and analysis for a common insertion IVS16ins3kb. However, patients with compatible biochemical features but only one monoallelic pathogenic variant have remained a diagnostic challenge. Here we report the development, validation and application of a multiplex ligation-dependent probe amplification (MLPA) assay using an in-house oligonucleotide probemix and a customised Coffalyer.NET worksheet for detection of exonic copy number variations in SLC25A13. With this MLPA assay, we successfully identified the presence of a heterozygous exonic deletion in SLC25A13 in three of 15 (20%) unrelated individuals with only one monoallelic pathogenic variant detected using conventional methods. Three exonic deletions, two novel involving exon 14 and one reported involving exon 5, were subsequently confirmed with Sanger sequencing. In summary, we developed, evaluated, and demonstrated the clinical utility of an in-house MLPA assay to look for exonic deletions in SLC25A13 in patients with citrin deficiency. With the discovery of novel deletions, MLPA should be considered a test of choice for molecular diagnosis of citrin deficiency when the sequencing result is inconclusive., (Copyright © 2021 Royal College of Pathologists of Australasia. Published by Elsevier B.V. All rights reserved.)
- Published
- 2021
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39. How the high-volume evacuation alters the flow-field and particle removal characteristics in the mock-up dental clinic.
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Li X, Mak CM, Wai Ma K, and Wong HM
- Abstract
The exposure risk of droplets and aerosols emitted from the oral cavity to the dental professionals and patients has received more attention especially the ongoing outbreak of COVID-19. The aim of this study is to address the question about how the use of the high-volume evacuation (HVE) alters the risk profiles compared with the situation only personal protective equipment (PPE). The risk profiles of the different situations were analyzed in terms of droplet velocity, flow field characteristics, and particle removal efficiency. The ultrasonic scaling with suction was performed in the mock-up experimental dental clinic, and the instantaneous moment when the HVE acted on the droplets was visualized using a laser light scattering technique. From the results of the velocity profiles, the hypothesis about the moderate effect of the HVE on high-velocity small droplets near the mannequin's mouth had been firstly proven in this study. The suction can be characterized as low-threshold equipment to bring substantial benefits to reduce the area of the contaminated region. Once the cooperation of suction, the pair of vortexes that were in the face shield area of the dental professional would be eliminated, removing the high-level contaminated region near the breathing area of dental professionals. Compared with the low and medium volume evacuation, the particle removal efficiency of the HVE was more stable at 60%. The research will provide references to the HVE recommendation in the dentistry clinical practice guidelines., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
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40. Restoration of dental services after COVID-19: The fallow time determination with laser light scattering.
- Author
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Li X, Mak CM, Ma KW, and Wong HM
- Abstract
In time, dental health care has slowly expanded beyond emergency treatment to treat oral diseases. How to reduce the cross-transmission risk in dental surgery has raised much more attention. Considering the lack of consistency of fallow time (FT) in its necessity and duration, the highly sensitive laser light scattering method has been proposed to visualize the airborne lifetime and decay rate of suspended particles in the dental surgery environment. The FT is defined as when the number of suspended particles drops to the level that the next patient can safely enter after the aerosol-generating procedures (AGPs). The ultrasonic scaling was performed in the mock-up experimental dental clinic with 6 air changes per hour (ACH), and the instantaneous moments of the droplets were recorded by a high-speed camera. Without any mitigation measures, the estimated FT in the single dental surgery environment with 6 ACH was in the range of 27-35 min, significantly affecting the number of daily dental services. Despite the cooperation of high-volume evacuation (HVE [IO]) cannot eliminate the FT to zero minutes, the equipment could reduce the required FT by 3-11 min for the suspended particles reducing the baseline levels. Owing to the longer airborne lifetime of suspended particles, the relevant protection equipment, especially respiratory protection, is quite essential in dental surgery. The obtained results of this study will provide evidence to establish the revised FT in dental surgery guidelines and protect the health and wellbeing of urban dwellers., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2021 Elsevier Ltd. All rights reserved.)
- Published
- 2021
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41. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area.
- Author
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Ling TK, Wong KC, Chan CY, Lau NK, Law CY, Lee HH, Lai CK, Chong YK, Yau KE, Cheung KM, Ko CH, Fung CW, Lee LK, Wong SS, Mak CM, Chan AY, Tam S, and Lam CW
- Subjects
- Aromatic-L-Amino-Acid Decarboxylases deficiency, Aromatic-L-Amino-Acid Decarboxylases genetics, Humans, Prevalence, Retrospective Studies, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acid Metabolism, Inborn Errors epidemiology, Amino Acid Metabolism, Inborn Errors genetics
- Abstract
Background: Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form., Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospinal fluid neurotransmitter analysis performed at our centre. All cases had an elevated urine vanillactic acid and, in most cases, with N-acetylvanilalanine detected. Cerebrospinal fluid analysis showed low downstream metabolites vanillylmandelic acid, homovanillic acid but high 3-O-methyl-L-DOPA, 5-hydroxytryptophan. Cerebrospinal fluid pterins were normal. Genotyping in DDC confirms the diagnosis. Urine organic acid analysis provided the first clue to diagnosis in four of the cases, which then triggered cerebrospinal fluid neurotransmitter and genetic analysis. We also developed a diagnostic decision support system to assist the interpretation of the mass spectrometry data from urine organic acids., Conclusions: Urine organic acid could be essential in guiding subsequent investigations for the diagnosis of aromatic L-amino acid decarboxylase deficiency. We propose to screen suspected cases first with urine organic acids, specifically looking for vanillactic acid and N-acetylvanilalanine. Suggestive findings should be followed with target analysis for c.714 + 4A > T in ethnically Chinese patients. The assistive tool allowed expedite interpretation of profile data generated from urine organic acids analysis. It may also reduce interpreter's bias when peaks of interest are minor peaks in the spectrum., (Copyright © 2021 Elsevier B.V. All rights reserved.)
- Published
- 2021
- Full Text
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42. Enlightenment of re-entry airflow: The path of the airflow and the airborne pollutants transmission in buildings.
- Author
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Tung CW, Mak CM, Niu JL, Hung K, Wu Y, Tung N, and Wong HM
- Abstract
Viable aerosols in the airflow may increase the risk of occupants contracting diseases. Natural ventilation is common in buildings and is accompanied by re-entry airflow during the ventilation process. If the re-entry airflow contains toxic or infectious species, it may cause potential harm to residents. One of the Covid-19 outbreaks occurred in a public residential building at Luk Chuen House (LC-House) in Hong Kong. It is highly suspected that the outbreak of the disease is related to the re-entry airflow. The study attempts to explain and discuss possible causes of the outbreak. In order to understand the impact of airflow on the outbreak, a public residential building similar to LC-House was used in the study. Two measurements M - I and M - II with the same settings were conducted for a sampling unit in the corridor under low and strong wind conditions respectively. The sampling unit and the tracer gas carbon dioxide (CO
2 ) were used to simulate the index unit and infectious contaminated airflow respectively. The CO2 concentrations of the unit and corridor were measured simultaneously. Two models of Traditional Single-zone model (TSZ-model) and New Dual-zone model (NDZ-model) were used in the analysis. By comparing the ACH values obtained from the two models, it is indicated that the re-entry airflow of the unit is related to the corridor wind speeds and this provides a reasonable explanation for the outbreak in LC-House, and believes that the results can help understand the recent frequent cluster outbreaks in other residential buildings., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© 2021 Elsevier Ltd. All rights reserved.)- Published
- 2021
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43. Evaluating flow-field and expelled droplets in the mockup dental clinic during the COVID-19 pandemic.
- Author
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Li X, Mak CM, Ma KW, and Wong HM
- Abstract
In the setting of widespread severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) community transmission, reducing the exposure risk on dental professionals and the next patients is the key to reopening dental services in this pandemic environment. The study is motivated by the lack of understanding of the flow-field characteristics and droplet distribution during aerosol-generating procedures. The particle image velocimetry measurements with high temporal and spatial resolutions were performed under ultrasonic scaling in the mockup experimental dental clinic. Compared with other methods focusing on the settled droplet particles, the study focused on the visualization of suspended droplets. From the results of the velocity vector and trajectory map, the high-level contaminated area will be within 1 m from the oral cavity. The vortex structures were identified by the vorticity index. In the surface near the patient's head, a counterclockwise vortex would carry some droplets and contaminate this region. The small droplets circulated in the turbulence cloud and the droplet nuclei generated by dehydration are the two primary sources of suspended particles, which may cause airborne transmission in the dental clinic. About 65%-74% of the droplets in ultrasonic scaling were in the range of 50-180 μ m . The research will provide references to the development of the precaution measures to reduce the SARS-CoV-2 exposure risk of dental professionals., (© 2021 Author(s).)
- Published
- 2021
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44. Prevalence of neuronal membrane target antibodies in first-episode psychosis: abridged secondary publication.
- Author
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Chong CSY, Lo WTL, Mak CM, Chen SPL, Lau KK, and Sheng B
- Published
- 2020
45. Determination of cerebrospinal fluid adenosine deaminase activity cut-off for the diagnosis of tuberculous meningitis in Hong Kong.
- Author
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Chan TCH, Chen SPL, Mak CM, Ching CK, Luk KS, Tsang YM, and Leung DCW
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Hong Kong, Humans, Male, Middle Aged, Reference Values, Retrospective Studies, Sensitivity and Specificity, Tuberculosis, Meningeal cerebrospinal fluid, Young Adult, Adenosine Deaminase cerebrospinal fluid, Tuberculosis, Meningeal diagnosis
- Abstract
Aims: Tuberculous meningitis (TBM) is a severe infection which may lead to serious complication and mortality. Prompt diagnosis and treatment are essential. There is a need for a simple and fast laboratory test to differentiate TBM from other causes., Methods: Retrospective review was conducted for cerebrospinal fluid adenosine deaminase (CSF-ADA) activity which was measured at the Chemical Pathology Laboratory of Princess Margaret Hospital, the sole centre providing such service in Hong Kong, for 51 patients with suspected meningitis from nine local hospitals between June 2014 and July 2017. TBM diagnosis was defined by positive culture and/or nucleic acid amplification test result of Mycobacterium tuberculosis complex in CSF., Results: CSF-ADA activity was significantly higher in the TBM group (8.6±2.1 IU/L, n=8) than that of the non-TBM group (2.8±5.9 IU/L, n=43). The optimal clinical cut-off of 5.1 U/L for TBM diagnosis in our laboratory yielded 100% sensitivity, 91% specificity, positive likelihood ratio of 10.8 and negative likelihood ratio of 0. In rare circumstance, false elevation may be seen in non-tuberculous cause, such as central nervous system lymphoma and fungal infection., Conclusions: We recommend the use of CSF-ADA activity, which is a simple, fast and robust test for early differentiation of TBM from other causes, to facilitate timely initiation of antituberculous treatment and potentially improve patients' outcome., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2020
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46. Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
- Author
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Au LWC, Lee HHC, Sheng B, Chan KY, Yau EKC, Mak CM, Chan AYW, Chan AYY, Lau CKY, Mok VCT, and Lam CW
- Subjects
- Adult, Deep Brain Stimulation methods, Family, Female, Humans, Movement Disorders therapy, Genetic Variation genetics, Movement Disorders enzymology, Movement Disorders genetics, Phenotype, Thiamin Pyrophosphokinase deficiency, Thiamin Pyrophosphokinase genetics
- Published
- 2020
- Full Text
- View/download PDF
47. Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1.
- Author
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So ECT, Mak CM, Ng GSF, Tsui KW, Ma KH, and Yeung WL
- Subjects
- Adolescent, Ataxia etiology, Humans, Male, Myoclonus etiology, Nitriles, Anticonvulsants pharmacology, Ataxia drug therapy, Mucolipidoses complications, Myoclonus drug therapy, Pyridones pharmacology
- Published
- 2020
- Full Text
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48. Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
- Author
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Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Ho LC, Li R, Lee CN, Tsoi TH, Cheung YN, Fu YM, Kan NA, Chu YP, Au WL, Yeung HJ, Li SH, Cheung CM, Tong HF, Hung LE, Chan TY, Li CT, Tong TT, Tong TC, Leung HC, Lee KH, Yeung SS, Lee SB, Lau TG, Lam CW, Mak CM, and Chan AY
- Subjects
- Adult, Aged, Asian People, Electromyography, Female, Founder Effect, Hong Kong epidemiology, Humans, Male, Middle Aged, Muscle Weakness diagnostic imaging, Muscle Weakness genetics, Muscle Weakness pathology, Muscle, Skeletal diagnostic imaging, Mutation genetics, Myopathies, Structural, Congenital epidemiology, Myopathies, Structural, Congenital pathology, Pedigree, Phenotype, Filamins genetics, Muscle, Skeletal pathology, Myopathies, Structural, Congenital genetics
- Abstract
FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the last 12 years, in whom the same pathogenic variant c.8129G>A (p.Trp2710*) was detected. Twenty-six patients were symptomatic when diagnosed; four patients died of pneumonia and/or respiratory failure. Abnormal amorphous material or granulofilamentous masses were detected in half of the cases, with mitochondrial abnormalities noted in two-thirds. We also show by haplotype analysis the founder effect associated with this Hong Kong variant, which might have occurred 42 to 71 generations ago or around Tang and Song dynasties, and underlain a higher incidence of myofibrillar myopathy among Hong Kong Chinese. The late-onset nature and slowly progressive course of the highly penetrant condition could have significant impact on the family members, and an early diagnosis could benefit the whole family. Considering another neighboring founder variant in FLNC in German patients, we advocate development of specific therapies such as chaperone-based or antisense oligonucleotide strategies for this particular type of myopathy., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
- Full Text
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49. Tracking the evolution of a single composite particle during redox cycling for application in H 2 production.
- Author
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Neagu D, Papaioannou EI, Tjaden B, Lu X, Mak CM, Gaultois MW, Ray B, Shearing P, and Metcalfe IS
- Abstract
Composite materials consisting of metal and metal oxide phases are being researched intensively for various energy conversion applications where they are often expected to operate under redox conditions at elevated temperature. Understanding of the dynamics of composite evolution during redox cycling is still very limited, yet critical to maximising performance and increasing durability. Here we track the microstructural evolution of a single composite particle over 200 redox cycles for hydrogen production by chemical looping, using multi-length scale X-ray computed tomography. We show that redox cycling triggers a centrifugal redispersion of the metal phase and a centripetal clustering of porosity, both seemingly driven by the asymmetric nature of oxygen exchange in composites. Initially, the particle develops a large amount of internal porosity which boosts activity, but on the long term this facilitates structural and compositional reorganisation and eventually degradation. These results provide valuable insight into redox-driven microstructural changes and also for the design of new composite materials with enhanced durability.
- Published
- 2020
- Full Text
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50. Investigation of interunit dispersion in 2D street canyons: A scaled outdoor experiment.
- Author
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Dai Y, Mak CM, Zhang Y, Cui D, and Hang J
- Abstract
Interunit dispersion problems have been studied previously mainly through on-site measurements, wind tunnel tests, and CFD simulations. In this study, a scaled outdoor experiment was conducted to examine the interunit dispersion characteristics in consecutive two-dimensional street canyons. Tracer gas ( C O 2 ) was continuously released to simulate the pollutant dispersion routes between the rooms in street canyons. The wind velocity, wind direction, air temperature, and tracer gas concentrations were monitored simultaneously. Two important parameters, the air exchange rate and reentry ratio, were analyzed to reveal the ventilation performance and interunit dispersion of the rooms in the street canyons. Based on the real-time weather conditions, it was found that the ventilation performance of the source room varied according to the room location. The air exchange rate distribution of the leeward-side room was more stable than that of the windward side. The tracer gas was mainly transported in the vortex direction inside the street canyon, and the highest reentry ratio was observed at the room nearest to the source room along the transportation route. In addition, under real weather conditions, the rooms in the street canyon have a high probability of experiencing a high reentry ratio based on the maximum reentry ratio of each room. This study provides authentic airflow and pollutant dispersion information in the street canyons in an urban environment. The dataset of this experiment can be used to validate further numerical simulations., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© 2020 Elsevier Ltd. All rights reserved.)
- Published
- 2020
- Full Text
- View/download PDF
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