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1.
Autism ; : 13623613241246502, 2024 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-38725311

RESUMO

LAY ABSTRACT: Sleep problems are common in children with autism spectrum disorder. Although the effects of parent-based sleep intervention were shown to be promising, previous research was limited to the face-to-face service model, which might limit accessibility. This study examined a sleep-focused parent training group delivered via telehealth for treating insomnia in preschool children with autism spectrum disorder, which allowed parents to join the intervention remotely. Results showed that children in the intervention group had greater improvements in sleep and insomnia symptoms after treatment, as compared to those who only received care as usual. This sleep-focused treatment also led to improved daytime behaviors, especially externalizing problems such as hyperactivity and conduct problems, in children with autism spectrum disorder. Parents who had attended the training also reported reduced parental stress level after treatment. The findings supported the feasibility and promising effects of a brief parent-based sleep intervention delivered via telehealth for preschooler with autism spectrum disorder.

2.
Vaccine ; 42(8): 1878-1882, 2024 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-38395722

RESUMO

A test negative study was carried out from 13 June through to 15 November 2023 enrolling 3183 children hospitalized with acute respiratory illness in Hong Kong. Influenza A and B viruses were detected in 528 (16.6%) children, among which 419 (79.4%) were influenza A(H3N2). The overall vaccine effectiveness against hospitalization associated with any influenza virus infection was estimated as 22.4% (95% CI: -11.7%, 46.1%), and against influenza A(H3N2) specifically was 14.3% (95% CI: -29.2%, 43.2%). Despite the moderate to low VE estimated here, which could be a result of waning immunity and antigenic drift, influenza vaccination remains an important approach to reduce the impact of influenza in children.


Assuntos
Vacinas contra Influenza , Influenza Humana , Criança , Humanos , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Vírus da Influenza A Subtipo H3N2 , Hong Kong/epidemiologia , Eficácia de Vacinas , Hospitalização , Vacinação , Estações do Ano
3.
JAMA Netw Open ; 6(12): e2346106, 2023 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-38060228

RESUMO

Importance: There is limited evidence on whether the quality of life and behavior of children with special educational needs (SEN) have improved or worsened since schools reopened after COVID-19-related school closures. Objective: To describe the changes in the mental well-being of children and adolescents with SEN during the initial 6 months of resuming in-person learning after COVID-19-related school closures. Design, Setting, and Participants: This repeated cross-sectional study reported data from surveys completed by parents and caregivers of children and adolescents aged 3 to 18 years with SEN studying at special schools in Hong Kong. The first cohort was obtained during COVID-19-related school closure in April 2020 (wave 1) and the second cohort was obtained 6 months after school resumption with data collection between July and October 2021 (wave 2). Data analysis occurred from January to June 2022. Exposure: Diagnosis of a disability or disorder that required school-based special educational programming. Main Outcomes and Measures: Children's emotional and behavioral difficulties (measured with the Strengths and Difficulties Questionnaire [SDQ]), quality of life (measured with the Pediatric Quality of Life Inventory [PedsQL]), lifestyle habits, parental stress, and parental well-being (measured with the PedsQL Family Impact Module) were assessed. Cross-sectional comparisons of well-being between the 2 waves were conducted using analysis of covariance, and multiple regression analysis was performed to identify factors associated with mental health outcomes in wave 2. Results: In wave 1, a total of 456 parents and caregivers of children with SEN (mean [SD] age, 7.44 [3.98] years; 315 boys [69.1%]; 141 girls [30.9%]) responded to the surveys. In wave 2, 519 parents and caregivers of children with SEN (mean [SD] age, 8.16 [4.47] years; 365 boys [70.3%]; 154 girls [29.7%]) responded. After school resumption, preschoolers aged 3 to 5 years with SEN had significantly fewer emotional difficulties (mean [SD] SDQ score, 3.26 [2.39] vs 2.68 [2.03]; standardized mean difference [SMD] = 0.26; 95% CI, 0.07-0.46; Bonferroni-corrected P = .04) and conduct difficulties (mean [SD] SDQ score, 2.88 [1.89] vs 2.41 [1.91]; SMD = 0.25; 95% CI, 0.05-0.44; Bonferroni-corrected P = .01), whereas adolescents had more conduct difficulties (mean [SD] SDQ score, 1.62 [1.50] vs 2.37 [3.02]; SMD = 0.41; 95% CI, 0.13-0.70; Bonferroni-corrected P = .049). The overall quality of life of school-aged children with SEN aged 6 to 11 years worsened after school resumption (mean [SD] PedsQL score, 67.52 [17.45] vs 60.57 [16.52]; SMD = 0.41; 95% CI, 0.19-0.62; Bonferroni-corrected P = .002). Conclusions and Relevance: The findings of this repeated cross-sectional study suggest that preschoolers with SEN had improved emotional and behavioral functioning when school resumed after COVID-19-related closures. School-aged children with SEN, adolescents with SEN, and children with intellectual disabilities were at risk of reduced quality of life, indicating that additional support should be offered to vulnerable groups as they return to schools.


Assuntos
COVID-19 , Masculino , Criança , Adolescente , Feminino , Humanos , COVID-19/epidemiologia , Saúde Mental , Estudos Transversais , Qualidade de Vida , Pandemias
4.
J Pediatric Infect Dis Soc ; 12(11): 586-589, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-37818976

RESUMO

In March-June 2023, we conducted a test-negative study in 1671 children who were hospitalized with acute respiratory illness in Hong Kong. Two hundred and eighty-six children (17.2%) were tested positive for influenza virus including 188 with A(H1N1). We estimated influenza vaccine effectiveness against influenza-associated hospitalization as 69.6% (95% confidence interval: 49.3%, 81.7%).


Assuntos
Vírus da Influenza A Subtipo H1N1 , Vacinas contra Influenza , Influenza Humana , Criança , Humanos , Influenza Humana/epidemiologia , Influenza Humana/prevenção & controle , Vacinas contra Influenza/uso terapêutico , Hong Kong/epidemiologia , Eficácia de Vacinas , Vacinação , Hospitalização , Estações do Ano
6.
Lancet Reg Health West Pac ; 34: 100711, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37283971

RESUMO

Background: To achieve universal healthcare coverage (UHC), the rare disease (RD) population must also receive quality healthcare without financial hardship. This study evaluates the impact of RDs in Hong Kong (HK) by estimating cost from a societal perspective and investigating related risk of financial hardship. Methods: A total of 284 RD patients and caregivers covering 106 RDs were recruited through HK's largest RD patient group, Rare Disease Hong Kong, in 2020. Resource use data were collected using the Client Service Receipt Inventory for Rare disease population (CSRI-Ra). Costs were estimated using a prevalence-based, bottom-up approach. Risk of financial hardship was estimated using catastrophic health expenditure (CHE) and impoverishing health expenditure (IHE) indicators. Multivariate regression was performed to identify potential determinants. Findings: Annual total RD costs in HK were estimated at HK$484,256/patient (United States (US) $62,084). Direct non-healthcare cost (HK$193,555/US$24,814) was the highest cost type, followed by direct healthcare (HK$187,166/US$23,995), and indirect (HK$103,535/US$13,273) costs. CHE at the 10% threshold was estimated at 36.3% and IHE at the $3.1 poverty line was 8.8%, both significantly higher than global estimates. Pediatric patients reported higher costs than adult patients (p < 0.001). Longer years since genetic diagnosis was the only factor significantly associated with both total costs (p = 0.026) and CHE (p = 0.003). Interpretation: This study serves as the first in the Asia Pacific region to simultaneously assess the societal costs and financial hardship related to RDs and highlights the importance of an early genetic diagnosis. These results contribute to existing evidence on the globally ubiquitous high costs of RDs, warranting collaboration between different stakeholders to include RD population in UHC planning. Funding: Health and Medical Research Fund, and the Society for the Relief of Disabled Children.

7.
Dev Med Child Neurol ; 65(3): 358-366, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36106586

RESUMO

AIM: To investigate the association between the risk of attention-deficit/hyperactivity disorder (ADHD) and preterm birth and determine how postnatal complications in children born preterm is associated with the risk of ADHD. METHOD: This population-based cohort study used data from the Hong Kong electronic medical records. We followed 359 614 children (48% female; 6-17 years old, mean 11 years 7 months, SD 3 years 2 months) born in public hospitals in Hong Kong from 1st January 2004 to 31st December 2014 and collected medical records and demographic details for mothers and children until 11th November 2020. RESULTS: The risk of ADHD was 4.0% in children born at term and 5.1% in children born preterm. The odds ratio for ADHD was 2.08 (95% confidence interval [CI] 1.64-2.64) for children born extremely preterm, 1.64 (95% CI 1.46-1.85) for children born very preterm, and 1.15 (95% CI 1.08-1.23) for children born late preterm. Among preterm postnatal complications, only early respiratory disease, retinopathy of prematurity (ROP), and intraventricular haemorrhage were significant predictors of ADHD after controlling for preterm birth, other risk factors, and sociodemographic variables. The excess risk of ADHD among children born very preterm or late preterm could be partly explained by respiratory disease. ROP partially mediated the risk of ADHD in children born very preterm. INTERPRETATION: Children born preterm in all subcategories, from extremely preterm to late preterm, have increased risk of ADHD. Early respiratory infection partially mediates the risk of ADHD in children born preterm.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Nascimento Prematuro , Criança , Humanos , Recém-Nascido , Feminino , Adolescente , Masculino , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Estudos de Coortes , Nascimento Prematuro/epidemiologia , Mães
8.
Artigo em Inglês | MEDLINE | ID: mdl-36554390

RESUMO

BACKGROUND: The prevalence of allergic diseases has been increasing in developing areas but has reached a plateau in many developed areas. Regular surveys are imperative to assess the disease burden for the prioritization of resource allocation. OBJECTIVES: We examined the change in the prevalence of wheezing, allergic rhinitis (AR), and eczema in school-aged children with possible associative factors and possible health effects of school air quality. METHODS: This was the third repeated cross-sectional study conducted in 2015-2016 using the International Study of Asthma and Allergies in Childhood (ISAAC) protocol. Our first and second surveys were conducted in 1994-1995 and 2000-2001, respectively. Regarding the third survey, we recruited 3698 children aged 6-7 from 33 local schools in 18 districts. Air quality, temperature, and humidity were also measured. The changes in prevalence, multiple regression, and GLIMMIX procedure were analyzed. RESULTS: From our first survey to our third survey, the increased prevalences for lifetime wheeze, current wheeze, lifetime rhinitis, current rhinitis, current rhinoconjunctivitis, lifetime chronic rash, and current chronic rash were 4.2%, 2.1%, 12.5%, 12.6%, 14.2%, 3.9%, and 4.1%, respectively. Increased prevalence of parental atopy had the strongest association with an increased prevalence of each of these seven health outcomes. There was no significant association between school air pollutant levels and the prevalence of health outcomes. CONCLUSIONS: There was an increase in the prevalence of wheezing, allergic rhinitis, and eczema across the surveys. The most important associated risk factor identified was the increased prevalence of a parental history of atopy.


Assuntos
Eczema , Exantema , Hipersensibilidade Imediata , Rinite Alérgica , Rinite , Criança , Humanos , Rinite/epidemiologia , Hong Kong/epidemiologia , Sons Respiratórios , Estudos Transversais , Eczema/epidemiologia , Rinite Alérgica/epidemiologia , Inquéritos e Questionários , Prevalência
9.
Front Genet ; 13: 933381, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36003331

RESUMO

Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fibrosis and primary ciliary dyskinesia (PCD) can also contribute to the disease. Currently, there is still debate on whether genome sequencing (GS) or exome sequencing reanalysis (rES) would be beneficial if the initial targeted testing results returned negative. This study aims to provide a back-to-back comparison between rES and GS to explore the best integrated approach for the functional and genetics evaluation for patients referred for assessment of bronchiectasis. In phase 1, an initial 60 patients were analyzed by exome sequencing (ES) with one additional individual recruited later as an affected sibling for ES. Functional evaluation of the nasal nitric oxide test, transmission electron microscopy, and high-speed video microscopy were also conducted when possible. In phase 2, GS was performed on 30 selected cases with trio samples available. To provide a back-to-back comparison, two teams of genome analysts were alternatively allocated to GS or rES and were blinded to each other's analysis. The time for bioinformatics, analysis, and diagnostic utility was recorded for evaluation. ES revealed five positive diagnoses (5/60, 8.3%) in phase 1, and four additional diagnoses were made by rES and GS (4/30, 13%) during phase 2. Subsequently, one additional positive diagnosis was identified in a sibling by ES and an overall diagnostic yield of 10/61 (16.4%) was reached. Among those patients with a clinical suspicion of PCD (n = 31/61), the diagnostic yield was 26% (n = 8/31). While GS did not increase the diagnostic yield, we showed that a variant of uncertain significance could only be detected by GS due to improved coverage over ES and hence is a potential benefit for GS in the future. We show that genetic testing is an essential component for the diagnosis of early-onset bronchiectasis and is most effective when used in combination with functional tools such as TEM or HSVM. Our comparison of rES vs. GS suggests that rES and GS are comparable in clinical diagnosis.

10.
Value Health ; 25(9): 1624-1633, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35568675

RESUMO

OBJECTIVES: This study aimed to establish a normative profile of health-related quality of life (HRQOL) of the rare disease (RD) population in Hong Kong (HK) and identify potential predictors. METHODS: Between March 2020 and October 2020, patients with RD and caregivers were recruited through Rare Disease Hong Kong, the largest RD patient group alliance in HK. HRQOL was derived using the EQ-5D 3-Level with reference to the established HK value set. Utility scores were stratified according to demographics and disease-related information. Multiple linear regression was performed to explore the associations between patient characteristics and HRQOL. RESULTS: A total of 286 patients, covering 107 unique RDs, reported a mean utility score of 0.53 (SD 0.36). Thirty patients (10.5%) reported negative utility scores, indicating worse-than-death health states. More problems were recorded in the "usual activities" and "self-care" dimensions. Univariate analyses revealed that neurologic diseases, high out-of-pocket expenditure, home modification, and living in public housing or subdivided flats/units were significantly associated with lower HRQOL. A total of 99 caregivers reported a mean utility score of 0.78 (SD 0.17), which was significantly associated with the utility score of patients they took care of (r = 0.32; P = .001). CONCLUSIONS: The normative profile of the RD population was established, which revealed lower HRQOL in the RD population than other chronic disease groups and general population in HK. Findings were corroborated by evidence from other cohorts using EQ-5D, combined as part of a meta-analysis. Identifying predictors highlight areas that should be prioritized to improve HRQOL of RD population through clinical and psychosocial dimensions.


Assuntos
Nível de Saúde , Qualidade de Vida , Doença Crônica , Hong Kong/epidemiologia , Humanos , Qualidade de Vida/psicologia , Doenças Raras , Inquéritos e Questionários
11.
NPJ Genom Med ; 7(1): 23, 2022 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-35314707

RESUMO

Traditional carrier screening has been utilized for the detection of carriers of genetic disorders. Since a comprehensive assessment of the carrier frequencies of recessive conditions in the Southern Chinese population is not yet available, we performed a secondary analysis on the spectrum and carrier status for 315 genes causing autosomal recessive disorders in 1543 Southern Chinese individuals with next-generation sequencing data, 1116 with exome sequencing and 427 with genome sequencing data. Our data revealed that 1 in 2 people (47.8% of the population) was a carrier for one or more recessive conditions, and 1 in 12 individuals (8.30% of the population) was a carrier for treatable inherited conditions. In alignment with current American College of Obstetricians and Gynecologists (ACOG) pan-ethnic carrier recommendations, 1 in 26 individuals were identified as carriers of cystic fibrosis, thalassemia, and spinal muscular atrophy in the Southern Chinese population. When the >1% expanded carrier screening rate recommendation by ACOG was used, 11 diseases were found to meet the criteria in the Southern Chinese population. Approximately 1 in 3 individuals (35.5% of the population) were carriers of these 11 conditions. If the 1 in 200 carrier frequency threshold is used, and additional seven genes would meet the criteria, and 2 in 5 individuals (38.7% of the population) would be detected as a carrier. This study provides a comprehensive catalogue of the carrier spectrum and frequency in the Southern Chinese population and can serve as a reference for careful evaluation of the conditions to be included in expanded carrier screening for Southern Chinese people.

12.
Sci Rep ; 11(1): 23837, 2021 12 13.
Artigo em Inglês | MEDLINE | ID: mdl-34903789

RESUMO

The measurement of costs is fundamental in healthcare decision-making, but it is often challenging. In particular, standardised methods have not been developed in the rare genetic disease population. A reliable and valid tool is critical for research to be locally meaningful yet internationally comparable. Herein, we sought to develop, contextualise, translate, and validate the Client Service Receipt Inventory for the RAre disease population (CSRI-Ra) to be used in cost-of-illness studies and economic evaluations for healthcare planning. Through expert panel discussions and focus group meetings involving 17 rare disease patients, carers, and healthcare and social care professionals from Hong Kong, we have developed the CSRI-Ra. Rounds of forward and backward translations were performed by bilingual researchers, and face validity and semantic equivalence were achieved through interviews and telephone communications with focus group participants and an additional of 13 healthcare professional and university students. Intra-class correlation coefficient (ICC) was used to assess criterion validity between CSRI-Ra and electronic patient record in a sample of 94 rare disease patients and carers, with overall ICC being 0.69 (95% CI 0.56-0.78), indicating moderate to good agreement. Following rounds of revision in the development, contextualisation, translation, and validation stages, the CSRI-Ra is ready for use in empirical research. The CSRI-Ra provides a sufficiently standardised yet adaptable method for collecting socio-economic data related to rare genetic diseases. This is important for near-term and long-term monitoring of the resource consequences of rare diseases, and it provides a tool for use in economic evaluations in the future, thereby helping to inform planning for efficient and effective healthcare. Adaptation of the CSRI-Ra to other populations would facilitate international research.


Assuntos
Custos e Análise de Custo , Honorários Médicos/estatística & dados numéricos , Doenças Genéticas Inatas/economia , Serviços de Saúde/economia , Doenças Raras/economia , Adulto , Algoritmos , Interpretação Estatística de Dados , Feminino , Serviços de Saúde/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade
13.
EBioMedicine ; 71: 103530, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34455394

RESUMO

BACKGROUND: Biliary atresia (BA) is the most common obstructive cholangiopathy in neonates, often progressing to end-stage cirrhosis. BA pathogenesis is believed to be multifactorial, but the genetic contribution, especially for nonsyndromic BA (common form: > 85%) remains poorly defined. METHODS: We conducted whole exome sequencing on 89 nonsyndromic BA trios to identify rare variants contributing to BA etiology. Functional evaluation using patients' liver biopsies, human cell and zebrafish models were performed. Clinical impact on respiratory system was assessed with clinical evaluation, nasal nitric oxide (nNO), high speed video analysis and transmission electron microscopy. FINDINGS: We detected rare, deleterious de novo or biallelic variants in liver-expressed ciliary genes in 31.5% (28/89) of the BA patients. Burden test revealed 2.6-fold (odds ratio (OR) [95% confidence intervals (CI)]= 2.58 [1.15-6.07], adjusted p = 0.034) over-representation of rare, deleterious mutations in liver-expressed ciliary gene set in patients compared to controls. Functional analyses further demonstrated absence of cilia in the BA livers with KIF3B and TTC17 mutations, and knockdown of PCNT, KIF3B and TTC17 in human control fibroblasts and cholangiocytes resulted in reduced number of cilia. Additionally, CRISPR/Cas9-engineered zebrafish knockouts of KIF3B, PCNT and TTC17 displayed reduced biliary flow. Abnormally low level of nNO was detected in 80% (8/10) of BA patients carrying deleterious ciliary mutations, implicating the intrinsic ciliary defects. INTERPRETATION: Our findings support strong genetic susceptibility for nonsyndromic BA. Ciliary gene mutations leading to cholangiocyte cilia malformation and dysfunction could be a key biological mechanism in BA pathogenesis. FUNDING: The study is supported by General Research Fund, HMRF Commissioned Paediatric Research at HKCH and Li Ka Shing Faculty of Medicine Enhanced New Staff Start-up Fund.


Assuntos
Atresia Biliar/etiologia , Cílios/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Fenótipo , Animais , Atresia Biliar/diagnóstico , Sistemas CRISPR-Cas , Linhagem Celular , Biologia Computacional/métodos , Edição de Genes , Técnicas de Silenciamento de Genes , Ontologia Genética , Estudos de Associação Genética/métodos , Heterogeneidade Genética , Loci Gênicos , Humanos , Fígado/metabolismo , Fígado/patologia , Análise de Sequência de DNA , Sequenciamento do Exoma , Peixe-Zebra
14.
Int J Infect Dis ; 111: 288-294, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34217874

RESUMO

OBJECTIVES: Meningitis in neonates and young infants leads to significant morbidity and mortality worldwide. This study aimed to investigate pathogens, antibiotic resistance and secular change of incidence in Hong Kong. METHODS: A retrospective search was performed on meningitis in neonates and infants aged <3 months in three Hong Kong public hospitals from 2004 to 2019. Medical charts were reviewed, with focus on the identification and antibiotic resistance of the pathogens. RESULTS: A total of 200 cases of meningitis were identified (67% were bacterial). Group B Streptococcus (GBS) and Escherichia coli (E. coli) were the commonest bacterial pathogens. The annual rates of early-onset GBS meningitis decreased after the implementation of universal GBS screening and intrapartum antibiotic prophylaxis (IAP) in 2012, while that of late-onset GBS meningitis remained similar. A significant portion of E. coli isolates were resistant to ampicillin and/or gentamicin. CONCLUSION: GBS and E. coli were the most common bacteria for meningitis in this age group. The annual rate of bacterial meningitis in Hong Kong has declined in recent years, which has been attributed to the decline in early-onset GBS meningitis due to universal GBS screening and IAP. Antimicrobial-resistant bacterial strains that cause meningitis require further clinical and public health attention.


Assuntos
Meningites Bacterianas , Infecções Estreptocócicas , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Antibioticoprofilaxia , Escherichia coli , Hong Kong/epidemiologia , Humanos , Lactente , Recém-Nascido , Meningites Bacterianas/tratamento farmacológico , Meningites Bacterianas/epidemiologia , Estudos Retrospectivos , Infecções Estreptocócicas/tratamento farmacológico , Infecções Estreptocócicas/epidemiologia , Streptococcus agalactiae
15.
PLoS Genet ; 17(2): e1009323, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33600428

RESUMO

Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this study, secondary analysis of exome sequencing data was conducted to study pharmacogenomics in 1116 Hong Kong Chinese. We aimed to identify the spectrum of actionable pharmacogenetic variants and rare, predicted deleterious variants that are potentially actionable in Hong Kong Chinese, and to estimate the proportion of dispensed drugs that may potentially benefit from genotype-guided prescription. The projected preemptive pharmacogenetic testing prescription impact was evaluated based on the patient prescription data of the public healthcare system in 2019, serving 7.5 million people. Twenty-nine actionable pharmacogenetic variants/ alleles were identified in our cohort. Nearly all (99.6%) subjects carried at least one actionable pharmacogenetic variant, whereas 93.5% of subjects harbored at least one rare deleterious pharmacogenetic variant. Based on the prescription data in 2019, 13.4% of the Hong Kong population was prescribed with drugs with pharmacogenetic clinical practice guideline recommendations. The total expenditure on actionable drugs was 33,520,000 USD, and it was estimated that 8,219,000 USD (24.5%) worth of drugs were prescribed to patients with an implicated actionable phenotype. Secondary use of exome sequencing data for pharmacogenetic analysis is feasible, and preemptive pharmacogenetic testing has the potential to support prescription decisions in the Hong Kong Chinese population.


Assuntos
Sequenciamento do Exoma/métodos , Farmacogenética/métodos , Variantes Farmacogenômicos/genética , Prescrições/estatística & dados numéricos , Alelos , Povo Asiático/genética , Estudos de Coortes , Frequência do Gene , Genótipo , Hong Kong , Humanos , Farmacogenética/estatística & dados numéricos , Testes Farmacogenômicos/métodos , Testes Farmacogenômicos/estatística & dados numéricos , Fenótipo , Reprodutibilidade dos Testes
16.
J Hum Genet ; 66(6): 637-641, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33223521

RESUMO

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.


Assuntos
Sequenciamento do Exoma , Predisposição Genética para Doença , Testes Genéticos , Genômica , Adolescente , Adulto , Alelos , Criança , China/epidemiologia , Exoma , Feminino , Variação Genética/genética , Genoma Humano/genética , Hong Kong/epidemiologia , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Mutação/genética , Adulto Jovem
17.
Respir Res ; 21(1): 259, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33036612

RESUMO

BACKGROUND: To aid in the diagnosis of Primary Ciliary Dyskinesia (PCD) and to evaluate the respiratory epithelium in respiratory disease, normal age-related reference ranges are needed for ciliary beat frequency (CBF), beat pattern and ultrastructure. Our aim was to establish reference ranges for healthy Chinese children. METHODS: Ciliated epithelial samples were obtained from 135 healthy Chinese children aged below 18 years by brushing the inferior nasal turbinate. CBF and beat pattern were analysed from high speed video recordings. Epithelial integrity and ciliary ultrastructure were assessed using transmission electronic microscopy. RESULTS: The mean CBF from 135 children studied was 10.1 Hz (95% CI 9.8 to 10.4). Approximately 20% (ranged 18.0-24.2%) of ciliated epithelial edges were found to have areas of dyskinetically beating cilia. Normal beat pattern was observed in ciliated epithelium from all subjects. We did not find any effect of exposure to second hand smoke on CBF in our subjects. Microtubular defects were found in 9.3% of all of the cilia counted in these children, while other ciliary ultrastructural defects were found in less than 3%. CONCLUSIONS: We established the reference range for CBF, beat pattern and ultrastructure in healthy Chinese children. Using similar methodology, we found a lower overall mean CBF than previously obtained European values. This study highlights the need to establish normative data for ciliary function in different populations.


Assuntos
Povo Asiático , Neurônios Receptores Olfatórios/fisiologia , Neurônios Receptores Olfatórios/ultraestrutura , Adolescente , Adulto , Criança , Pré-Escolar , Cílios/fisiologia , Cílios/ultraestrutura , Feminino , Hong Kong/epidemiologia , Humanos , Masculino , Microscopia Eletrônica/métodos , Pessoa de Meia-Idade , Mucosa Nasal/fisiologia , Mucosa Nasal/ultraestrutura , Mucosa Respiratória/fisiologia , Mucosa Respiratória/ultraestrutura , Gravação em Vídeo/métodos , Adulto Jovem
18.
Pediatr Pulmonol ; 55(7): 1584-1591, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32483934

RESUMO

Many respiratory viral infections such as influenza and measles result in severe acute respiratory symptoms and epidemics. In the spring of 2003, an epidemic of coronavirus pneumonia spread from Guangzhou to Hong Kong and subsequently to the rest of the world. The WHO coined the acronym SARS (severe acute respiratory syndrome) and subsequently the causative virus as SARS-CoV. In the summer of 2012, epidemic of pneumonia occurred again in Saudi Arabia which was subsequently found to be caused by another novel coronavirus. WHO coined the term MERS (Middle East respiratory syndrome) to denote the Middle East origin of the novel virus (MERS-CoV). In the winter of 2019, another outbreak of pneumonia occurred in Wuhan, China which rapidly spread globally. Yet another novel coronavirus was identified as the culprit and has been named SARS-CoV-2 due to its similarities with SARS-CoV, and the disease as coronavirus disease-2019. This overview aims to compare and contrast the similarities and differences of these three major episodes of coronavirus outbreak, and conclude that they are essentially the same viral respiratory syndromes caused by similar strains of coronavirus with different names. Coronaviruses have caused major epidemics and outbreaks worldwide in the last two decades. From an epidemiological perspective, they are remarkably similar in the mode of spread by droplets. Special focus is placed on the pediatric aspects, which carry less morbidity and mortality in all three entities.


Assuntos
Infecções por Coronavirus/história , Pediatria , Pneumonia Viral/epidemiologia , Síndrome Respiratória Aguda Grave/história , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Betacoronavirus , COVID-19 , Criança , Pré-Escolar , China/epidemiologia , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/virologia , Feminino , História do Século XXI , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Coronavírus da Síndrome Respiratória do Oriente Médio , Pandemias , Pneumonia Viral/virologia , Coronavírus Relacionado à Síndrome Respiratória Aguda Grave , SARS-CoV-2 , Síndrome Respiratória Aguda Grave/epidemiologia , Síndrome Respiratória Aguda Grave/virologia , Adulto Jovem
19.
Lancet Public Health ; 5(5): e279-e288, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32311320

RESUMO

BACKGROUND: A range of public health measures have been implemented to suppress local transmission of coronavirus disease 2019 (COVID-19) in Hong Kong. We examined the effect of these interventions and behavioural changes of the public on the incidence of COVID-19, as well as on influenza virus infections, which might share some aspects of transmission dynamics with COVID-19. METHODS: We analysed data on laboratory-confirmed COVID-19 cases, influenza surveillance data in outpatients of all ages, and influenza hospitalisations in children. We estimated the daily effective reproduction number (Rt) for COVID-19 and influenza A H1N1 to estimate changes in transmissibility over time. Attitudes towards COVID-19 and changes in population behaviours were reviewed through three telephone surveys done on Jan 20-23, Feb 11-14, and March 10-13, 2020. FINDINGS: COVID-19 transmissibility measured by Rt has remained at approximately 1 for 8 weeks in Hong Kong. Influenza transmission declined substantially after the implementation of social distancing measures and changes in population behaviours in late January, with a 44% (95% CI 34-53%) reduction in transmissibility in the community, from an estimated Rt of 1·28 (95% CI 1·26-1·30) before the start of the school closures to 0·72 (0·70-0·74) during the closure weeks. Similarly, a 33% (24-43%) reduction in transmissibility was seen based on paediatric hospitalisation rates, from an Rt of 1·10 (1·06-1·12) before the start of the school closures to 0·73 (0·68-0·77) after school closures. Among respondents to the surveys, 74·5%, 97·5%, and 98·8% reported wearing masks when going out, and 61·3%, 90·2%, and 85·1% reported avoiding crowded places in surveys 1 (n=1008), 2 (n=1000), and 3 (n=1005), respectively. INTERPRETATION: Our study shows that non-pharmaceutical interventions (including border restrictions, quarantine and isolation, distancing, and changes in population behaviour) were associated with reduced transmission of COVID-19 in Hong Kong, and are also likely to have substantially reduced influenza transmission in early February, 2020. FUNDING: Health and Medical Research Fund, Hong Kong.


Assuntos
Infecções por Coronavirus/prevenção & controle , Vírus da Influenza A Subtipo H1N1 , Influenza Humana/prevenção & controle , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Adulto , Betacoronavirus/isolamento & purificação , COVID-19 , Criança , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/epidemiologia , Estudos Transversais , Conhecimentos, Atitudes e Prática em Saúde , Hong Kong/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Incidência , Influenza Humana/epidemiologia , Influenza Humana/terapia , Pneumonia Viral/diagnóstico , Pneumonia Viral/epidemiologia , Medição de Risco , SARS-CoV-2
20.
Glob Pediatr Health ; 7: 2333794X20901932, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32030351

RESUMO

Introduction. We retrospectively reviewed a cohort of extremely low-birth-weight (ELBW) babies born at Queen Mary Hospital and explored if there is any time trend in survival and short-term neurodevelopmental outcomes. Methods. We included ELBW infants born at Queen Mary Hospital between 2008 and 2015. The relationships between multiple risk factors with survival and neurodevelopmental outcomes were analyzed by either Cox regression or univariate logistic regression analysis. We also compared this birth-year period with our previous study from 1993 to 2002. Results. Two hundred seventeen ELBW infants were delivered during the study period. There was significantly higher overall survival rate (81.1%) in 2008 to 2015 compared with 71.4% in 1993 to 2002. One hundred forty-three out of 176 (81%) survivors were assessed at a corrected mean age of 18.1 months. A total of 4.2% had cerebral palsy. There were significantly lower rates of cerebral palsy in 2008 to 2015 (4.2%) compared with 1993 to 2002 (13.5%). Conclusions. We showed a temporal improvement in survival and short-term neurodevelopmental outcomes.

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