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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]

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]

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]

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]

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]

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]

This article presents a numerical study of ventilation performance of balconies using computational fluid dynamics. The pressure coefficients distributed on the opposite walls of a five-storey building model, both with and without balconies, were studied under variation of the wind direction, balcony dimensions and building height. The effect of balconies on the capacity for wind-induced natural ventilation is discussed. The numerical results show good agreement with the experiments of Chand et al. They also indicate that a balcony enhances the cross-ventilation of intermediate floors but weakens that of the ground and top floors, by significantly changing the pressure distribution on the windward wall. Finally, the ventilation performance of a balcony is not greatly affected by variations in its size but is slightly weakened as the height of the building increases.Practical application: This study provides information and guidance in how best to incorporate the use of a balcony in building development at the design stage. [ABSTRACT FROM PUBLISHER]

The presence of the parapet and floor of a balcony is expected to have a range of effects on a building’s environmental behaviour, in terms of aspects, such as natural ventilation, thermal comfort, pollutant transportation and shading and daylighting. The authors have previously reported that the presence of a balcony can significantly increase the air flow rate of most rooms in a naturally ventilated building. In this study, the CFD technique and Fanger and Toftum’s extended PMV—PPD model are combined to investigate numerically the effect of a balcony on thermal comfort for naturally ventilated buildings in tropical-humid regions. The results show that although a balcony reduces the indoor average velocity for most rooms, and in turn increases the PMVnv value in both the seated and standing positions, it does not change the indoor thermal comfort level. However, the presence of a balcony improves comfort by increasing the uniformity of indoor air distribution. PMVnv is also shown to be less sensitive to velocity than PMV, allowing for a wider thermal comfort range for naturally ventilated buildings.Practical application: This study will help designers and engineers who are considering the use of a balcony at the design stage to have a better understanding of its effect on thermal comfort in naturally ventilated buildings. [ABSTRACT FROM PUBLISHER]

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.)

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.

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.)

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.)

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.

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.

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.

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.

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.)

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.

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.

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.)

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.)

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.)

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.)

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.)

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.)

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 CO 2 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.)

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).)

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.)

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.)

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.

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.)

Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies are often nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Inclusion of a large number of genes in the analysis might, however, generate a large number of ambiguous results and create unnecessary confusion for clinicians and patients. Methods: An ethnic Chinese patient presented at age 10 with tip-toe walking. Upon examination the patient had a waddling gait, a tight Achilles tendon with pes cavus . A muscle biopsy showed the presence of minicores with disruption of the myofibrillary network and Z-bands. Sequencing was performed using the Flexi-Myo panel, which provides coverage for 85 myopathic genes. Reporting of sequencing results was decided by the responsible chemical pathologists based on the available clinical and genetic information. Results: A previously identified heterozygous in-frame deletion was detected in MYH7 , which confirmed the diagnosis of Laing myopathy. No variants of uncertain significance required reporting. Conclusion: We describe the effectiveness of our Flexi-Myo panel approach for the diagnosis of muscle disorders, which confirmed diagnosis of Laing myopathy in what had been a clinically ambiguous presentation. This approach enables efficient genomic testing for muscle diseases in adults and children with satisfactory diagnostic yield and sufficient sensitivity, whereas avoiding the reporting of ambiguous results. Similar strategies might also be implemented for other groups of disorders.

Recurrent rhabdomyolysis is frequently ascribed to fatty acid ß-oxidation defects, mitochondrial respiratory chain disorders and glycogen storage-related diseases. In recent years, autosomal recessive LPIN1 mutations have been identified as a prevailing cause of severe rhabdomyolysis in children in Western countries. We report the first probable Hong Kong Chinese case of recurrent severe rhabdomyolysis in early childhood caused by LPIN1 variants. Compound heterozygous novel variants NM&#95;145693.2(LPIN1):c.[1949&#95;1967dupGTGTCACCACGCAGTACCA]; [2410G>C] (p.[Gly657Cysfs*12];[Asp804His]) were detected. The former variant was classified as likely pathogenic while the latter variant was classified as a variant of uncertain significance (VUS) based on the guideline published by the American College of Medical Genetics and Genomics (ACMG) in 2015. Although the genetic findings were inconclusive, the patient's presentation was compatible with LPIN1-related acute recurrent rhabdomyolysis, and the patient was treated as such. The early recognition, timely diagnosis and management of this condition are important to avoid fatal consequences. To our knowledge, there has been no previous report in the English-language literature of a child with Chinese ethnicity and LPIN1 -related acute recurrent rhabdomyolysis (MIM #268200).  Functional characterization of the novel variants detected in this study are warranted in future studies., Competing Interests: No competing interests were disclosed., (Copyright: © 2019 Yim SW et al.)

KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and genetic studies. The incidence is estimated to be at least 1 in 45 226 livebirths (at least 1 in 41 608 among ethnic Chinese livebirths) in Hong Kong. Hyponatremia appears to be another common feature in these patients. Salient histological features include nemaline bodies ranging from 200 to 500 nm in diameters on ultrastructural examination as well as negative KLHL40 immunohistochemistry; type II fiber predominance is obvious in 2 cases. We demonstrate the founder effect associated with genetic variant c.1516A>C (p.Thr506Pro) by polymorphic marker analysis, which revealed a 0.56-0.75-Mb or 0.41-0.78-cM shared haplotype encompassing the disease allele. The mutation is believed to have occurred around 412 generations ago or 6220 BCE, as estimated using DMLE+ and a formula described by Boehnke. We believe the founder variant might possibly underlie a sizable portion of nemaline myopathy in ethnic Chinese. Analysis of the KLHL40 gene may be considered as the first-tier testing of congenital myopathy in this ethnic group., (© 2019 American Association of Neuropathologists, Inc. All rights reserved.)

Introduction: Reference intervals (RIs) are essential tool for proper interpretation of results. There is a global trend towards implementing common RIs to avoid confusion and enhance patient management across different laboratories. However, local practices with respect to RIs lack harmonisation., Methods: We have conducted the first local survey regarding RIs for 14 general chemistry analytes in 10 chemical pathology laboratories that employ four different analytical platforms (Abbott Architect, Beckman Coulter AU, Roche Cobas, and Siemens Dimension EXL). Analytical bias was assessed by an inter-laboratory results comparison of external quality assurance programmes., Results: Sufficient inter-laboratory and inter-platform agreement regarding the 10 analytes (albumin, alanine aminotransferase, aspartate aminotransferase, chloride, gamma-glutamyl transferase, phosphate, potassium, sodium, total protein, and urea) were demonstrated. However, the RIs were heterogeneous across all laboratories, with percentage differences of the upper RI value of up to 47% for aspartate aminotransferase (absolute difference of 16 U/L), 29% for urea (1.8 mmol/L), and 18% for potassium (0.8 mmol/L). The percentage difference between lower RI values was up to 24% for urea (0.6 mmol/L), 22% for phosphate (0.16 mmol/L), and 8% for total protein (5 g/L). The coefficients of variation of the upper RI values of potassium and sodium were 1.2 times and 1.0 times of their corresponding between-subject biological variation, respectively, representing unnecessary variations that are overlooked and unchecked in current practice., Conclusions: We recommend the use of common RIs for general chemistry analytes in Hong Kong to prevent interpreter confusion, improve electronic data transfer, and unite laboratory practice. This is the first local study on this topic, and our data can lay the groundwork for increasing harmonisation of RIs across more laboratory tests., Competing Interests: All authors have disclosed no conflicts of interest.

Introduction: With the development of transportation system and the economy, the rapidly increasing number of automobiles brings the associated problem of road traffic noise, especially in metropolitan and densely populated high-rise cities like Hong Kong. In Hong Kong, approximately one million people are affected by severe road traffic noise. Excessive noise exposure is hazardous to the health and wellbeing of people and therefore has drawn progressively more attention in Hong Kong. The Calculation of Road Traffic Noise (CRTN) has been adopted as the sole tool to evaluate road traffic noise in the form of descriptor L A10 . The accuracy and suitability of the CRTN method for predicting road traffic noise in Hong Kong were evaluated in this study by comparing the prediction results and measured traffic noise levels. The results show that the CRTN method was able to provide adequate predictions with correlation coefficients of 0.8032 and 0.7626 between the predicted and measured L A10 for 2007 and 2017 respectively. The predicted traffic noise levels on different floors of seven selected residential buildings in 2017 were compared with those predictions for the same buildings in 2007. The worsening traffic noise exposure in these residential buildings was analysed and some suggestions and counter-measures to alleviate the traffic noise problems are put forward. Since the situation of Hong Kong is an example of what may happen in other cities, the present longitudinal study of the road traffic noise in Hong Kong hopes to contribute to a better urban acoustic environment worldwide., Context: Excessive noise exposure is hazardous to the health and wellbeing of people and therefore has drawn progressively more attention in Hong Kong. The urban road traffic noise exposure of residential buildings in Hong Kong over the past decade has been analysed., Aims: This study aims to assess the road traffic noise exposure of residential buildings over the past decade., Settings and Design: Measurements of traffic noise levels at some selected residential buildings were first conducted in 2007, and then repeated at the same buildings in 2017., Material and Methods: The CRTN was adopted to predict the traffic noise levels based on the recorded traffic flow data., Results: The exposure of these buildings to road traffic noise is higher in 2017 than in 2007. The study illustrates that the deterioration of the urban acoustic environment may not be caused by an increased total number of vehicles, but that heavy vehicles are dominantly responsible for the increased traffic noise levels. Restriction of vehicle velocity for urban street canyons is useless for road traffic noise control., Conclusions: This study shows the deterioration of traffic noise levels is mainly due to the increased heavy vehicles instead of the increased total number of vehicles. The alleviation of traffic noise levels by velocity restriction may not be obvious for urban street canyons and may only work with a certain velocity range., Competing Interests: None

All real processes, be they chemical, mechanical or electrical, are thermodynamically irreversible and therefore suffer from thermodynamic losses. Here, we report the design and operation of a chemical reactor capable of approaching thermodynamically reversible operation. The reactor was employed for hydrogen production via the water-gas shift reaction, an important route to 'green' hydrogen. The reactor avoids mixing reactant gases by transferring oxygen from the (oxidizing) water stream to the (reducing) carbon monoxide stream via a solid-state oxygen reservoir consisting of a perovskite phase (La 0.6 Sr 0.4 FeO 3-δ ). This reservoir is able to remain close to equilibrium with the reacting gas streams because of its variable degree of non-stoichiometry and thus develops a 'chemical memory' that we employ to approach reversibility. We demonstrate this memory using operando, spatially resolved, real-time, high-resolution X-ray powder diffraction on a working reactor. The design leads to a reactor unconstrained by overall chemical equilibrium limitations, which can produce essentially pure hydrogen and carbon dioxide as separate product streams.

High-rise deep street canyons usually experience poor ventilation and large vehicular pollutant exposure to residents in near-road buildings. Investigations are still required to clarify the flow and dispersion mechanisms in deep street canyons and explore techniques to reduce such large pollutant exposure. By conducting computational fluid dynamics (CFD) simulations validated by wind tunnel data and scale-model outdoor field measurements, we investigate the integrated impacts of aspect ratios, first-floor and second-floor elevated building designs, viaduct settings, height variations and wind catchers on the flow, personal intake fraction (P&#95;IF) of CO (carbon dioxide) and its spatial mean value 〈P&#95;IF〉 in two-dimensional (2D) street canyons. Results show that cases with H/W = 5 experience two counter-rotating vortices, much poorer ventilation and 1-2 orders larger 〈P&#95;IF〉 (43.6-120.8 ppm) than H/W = 1 and 3 (3.8-4.3 and 5.6-5.8 ppm). Moreover, in cases with H/W = 5 the height variation results in three vertically-aligned vortices and much weaker wind, subsequently produces greater 〈P&#95;IF〉 (1402-2047 ppm). To reduce 〈P&#95;IF〉 with H/W = 5, various urban designs are evaluated. The first-floor elevated building design creates more effective ventilation pathways than the second-floor elevated type does and reduces 〈P&#95;IF〉 at H/W = 5 by five orders (1402 to ~0.01 ppm) or two orders (43.6 to ~0.1 ppm) in cases with or without the height variation. However, such reductions at H/W = 1 and 3 are only 76.8%-81.4% and 22.4%-36.2% respectively. Wind catchers destroy the multi-vortex flow pattern as H/W = 5, produce a contra-clockwise main vortex and reduce 〈P&#95;IF〉 by 1-2 orders for cases with or without the height variation., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Objective: Sudden arrhythmia death syndrome (SADS) accounts for about 30% of causes of sudden cardiac death (SCD) in young people. In Hong Kong, there are scarce data on SADS and a lack of experience in molecular autopsy. We aimed to investigate the value of molecular autopsy techniques for detecting SADS in an East Asian population., Methods: This was a two-part study. First, we conducted a retrospective 5-year review of autopsies performed in public mortuaries on young SCD victims. Second, we conducted a prospective 2-year study combining conventional autopsy investigations, molecular autopsy, and cardiac evaluation of the first-degree relatives of SCD victims. A panel of 35 genes implicated in SADS was analysed by next-generation sequencing., Results: There were 289 SCD victims included in the 5-year review. Coronary artery disease was the major cause of death (35%); 40% were structural heart diseases and 25% were unexplained. These unexplained cases could include SADS-related conditions. In the 2-year prospective study, 21 SCD victims were examined: 10% had arrhythmogenic right ventricular cardiomyopathy, 5% had hypertrophic cardiomyopathy, and 85% had negative autopsy. Genetic analysis showed 29% with positive heterozygous genetic variants; six variants were novel. One third of victims had history of syncope, and 14% had family history of SCD. More than half of the 11 first-degree relatives who underwent genetic testing carried related genetic variants, and 10% had SADS-related clinical features., Conclusion: This pilot feasibility study shows the value of incorporating cardiac evaluation of surviving relatives and next-generation sequencing molecular autopsy into conventional forensic investigations in diagnosing young SCD victims in East Asian populations. The interpretation of genetic variants in the context of SCD is complicated and we recommend its analysis and reporting by qualified pathologists., Competing Interests: All authors have disclosed no conflicts of interest.

Background: To evaluate the analytical performance of five commercial acetaminophen assays and select the best method for routine use., Methods: Imprecision, accuracy, linearity, and interferences of three enzymatic assays (Beckman Coulter AU Paracetamol, Abbott MULTIGENT Acetaminophen, and Sekisui Acetaminophen L3K) and two immunoassay-based assays (Beckman Coulter SYNCHRON ACTM (Acetaminophen) Reagent and Siemens SYVA Emit-tox Acetaminophen) were evaluated on a Beckman Coulter AU680 chemistry analyzer. Hook effect for immunoassay-based assays and recovery in ultrafiltrate for enzymatic methods were studied., Results: Within-run and between-run imprecision of the enzymatic assays ranged 0.26%-0.82% and 0.53%-2.86%, respectively, while that for the immunoassay-based methods ranged 0.96%-6.34% and 1.50%-11.33%, respectively. All assays except the SYNCHRON assay fell within the program analytical performance specifications (±20 µmol/L or 10%) for external quality assurance (EQA) samples, with the highest positive bias (31.7%) observed in the SYNCHRON assay. Icteric interference was demonstrated most significantly in the Abbott assay (up to 88 μmol/L positive bias in blank serum). The lipemic interference on the SYNCHRON was significant (up to 110% positive bias at level of 100 μmol/L). The immunoassay-based methods were less susceptible to hemolytic interference, while the Abbott and AU assays were more susceptible to N-acetylcysteine interference. Both immunoassay-based methods showed no hook effect up to 18 000 μmol/L. Ultrafiltration recoveries for enzymatic methods were satisfactory, ranging from 80.0% ± 5.1% to 89.5% ± 3.0%., Conclusions: Proportional bias was observed in the SYNCHRON assay, while the Siemens and Sekisui assays were minimally affected by bilirubin interferences., (© 2018 Wiley Periodicals, Inc.)

Background: Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations., Patient and Methods: A 13-year-old Chinese girl presented for diagnostic evaluation with retinitis pigmentosa, generalised tonic-clonic seizure and cerebellar ataxia. Electron microscopy of whole blood and skin biopsy, and mutation analysis of CLN3 gene with genomic DNA and cDNA, were performed., Results: Electron microscopy showed vacuolated lymphocytes, and characteristic patterns in eccrine glands suggestive of neuronal ceroid lipofuscinosis. Sequencing of genomic DNA showed homozygous splice site variant NM&#95;000086.2(CLN3):c.906+6T>G, and the pathogenicity of which was confirmed by cDNA sequencing to demonstrate the deletion of a transmembrane domain of the CLN3 protein. The mutant protein was predicted to adversely affect ligand binding of CLN3 as a lysosomal membrane protein., Conclusions: Here we report the first genetically confirmed CLN3 disease in Chinese, with a novel splice site variant with proposed pathogenetic mechanism relating gene and protein, and highlights the potential ethnic differences in the mutation spectrum. We wish to establish the importance of clinical awareness and laboratory diagnosis of CLN3 disease, especially in the promising age of gene therapy., (Copyright © 2018 Elsevier B.V. All rights reserved.)

An acceptable pedestrian level wind environment is essential to maintain an enjoyable outdoor space for city residents. Low wind velocity environment can lead to uncomfortable outdoor thermal experience in hot and humid summer, and it is unable to remove the pollutants out of city canyons. However, the average wind velocity at pedestrian level is significantly lowered by closely spaced tall buildings in modern megacities. To improve the low wind velocity environment at pedestrian level in high-density cities, a general framework and detailed guidelines are needed. This study is the first time to develop such a framework, and provide detailed guidelines for improving pedestrian level low wind velocity environment in high-density cities. Additionally, a detailed review and summarisation of evaluation criteria and improvement measures are presented in this paper, which provide additional options for urban planners. To investigate the performance of the framework, the Hong Kong Polytechnic University campus was utilised as a case study. Results showed that pedestrian level wind comfort was greatly improved with the developed framework. The outcomes of this study can assist city planners to improve the low wind velocity environment, and can help policy makers to establish sustainable urban planning policies., (© 2018 Elsevier Ltd. All rights reserved.)