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1.
Eur J Pediatr ; 183(1): 335-344, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37889292

ABSTRACT

Sudden cardiac arrest (SCA) studies are often population-based, limited to sudden cardiac death, and excluding infants. To guide prevention opportunities, it is essential to be informed of pediatric SCA etiologies. Unfortunately, etiologies frequently remain unresolved. The objectives of this study were to determine paediatric SCA etiology, and to evaluate the extent of post-SCA investigations and to assess the performance of previous cardiac evaluation in detecting conditions predisposing to SCA. In a retrospective cohort (2002-2019), all children 0-18 years with out-of-hospital cardiac arrest (OHCA) referred to Erasmus MC Sophia Children's Hospital or the Amsterdam UMC (tertiary-care university hospitals), with cardiac or unresolved etiologies were eligible for inclusion. SCA etiologies, cardiac and family history and etiologic investigations in unresolved cases were assessed. The etiology of arrest could be determined in 52% of 172 cases. Predominant etiologies in children ≥ 1 year (n = 99) were primary arrhythmogenic disorders (34%), cardiomyopathies (22%) and unresolved (32%). Events in children < 1 year (n = 73) were largely unresolved (70%) or caused by cardiomyopathy (8%), congenital heart anomaly (8%) or myocarditis (7%). Of 83 children with unresolved etiology a family history was performed in 51%, an autopsy in 51% and genetic testing in 15%. Pre-existing cardiac conditions presumably causative for SCA were diagnosed in 9%, and remained unrecognized despite prior evaluation in 13%. CONCLUSION: SCA etiology remained unresolved in 83 of 172 cases (48%) and essential diagnostic investigations were often not performed. Over one-fifth of SCA patients underwent prior cardiac evaluation, which did not lead to recognition of a cardiac condition predisposing to SCA in all of them. The diagnostic post-SCA approach should be improved and the proposed standardized pediatric post-SCA diagnostics protocol may ensure a consistent and systematic evaluation process increasing the diagnostic yield. WHAT IS KNOWN: • Arrests in infants remain unresolved in most cases. In children > 1 year, predominant etiologies are primary arrhythmia disorders, cardiomyopathy and myocarditis. • Studies investigating sudden cardiac arrest are often limited to sudden cardiac death (SCD) in 1 to 40 year old persons, excluding infants and successfully resuscitated children. WHAT IS NEW: • In patients with unresolved SCA events, the diagnostic work up was often incompletely performed. • Over one fifth of victims had prior cardiac evaluation before the arrest, with either a diagnosed cardiac condition (9%) or an unrecognized cardiac condition (13%).


Subject(s)
Cardiomyopathies , Heart Diseases , Myocarditis , Infant , Humans , Child , Child, Preschool , Adolescent , Young Adult , Adult , Retrospective Studies , Netherlands/epidemiology , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Arrhythmias, Cardiac/complications , Cardiomyopathies/complications
2.
Hong Kong Med J ; 30(5): 380-385, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39205628

ABSTRACT

INTRODUCTION: Electronic health record databases can facilitate epidemiology research regarding diseases such as chronic obstructive pulmonary disease (COPD), a common medical condition worldwide. We aimed to assess the validity of International Classification of Diseases, 9th Revision (ICD-9) code algorithms for identifying COPD in Hong Kong's territory-wide electronic health record system, the Clinical Data Analysis and Reporting System (CDARS). METHODS: Adult patients diagnosed with COPD at all public hospitals in Hong Kong and specifically at Queen Mary Hospital from 2011 to 2020 were identified using the ICD-9 code 496 (Chronic airway obstruction, not elsewhere classified) within the CDARS. Two respiratory specialists reviewed clinical records and spirometry results to confirm the presence of COPD in a randomly selected group of cases. RESULTS: During the study period, 93 971 and 2479 patients had the diagnostic code for COPD at all public hospitals in Hong Kong and specifically at Queen Mary Hospital, respectively. Two hundred cases were randomly selected from Queen Mary Hospital for validation using medical records and spirometry results. The overall positive predictive value was 81.5% (95% confidence interval=76.1%-86.9%). We also developed an algorithm to identify COPD cases in our cohort. CONCLUSION: This study represents the first validation of ICD-9 coding for COPD in the CDARS. Our findings demonstrated that the ICD-9 code 496 is a reliable indicator for identifying COPD cases, supporting the use of the CDARS database for further clinical research concerning COPD.


Subject(s)
Algorithms , Electronic Health Records , International Classification of Diseases , Pulmonary Disease, Chronic Obstructive , Spirometry , Humans , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/epidemiology , Pulmonary Disease, Chronic Obstructive/classification , Pulmonary Disease, Chronic Obstructive/physiopathology , Hong Kong/epidemiology , Male , Female , Aged , Middle Aged , Adult , Databases, Factual , Aged, 80 and over
3.
Hong Kong Med J ; 30(5): 386-399, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39434246

ABSTRACT

INTRODUCTION: Human papillomavirus (HPV) poses a substantial but underestimated healthcare burden in Hong Kong. This study investigated factors affecting parental acceptance of HPV vaccination after the introduction of an immunisation programme for primary school girls. We assessed parental perceptions and related factors concerning HPV vaccination for both boys and girls. METHODS: We conducted a cross-sectional survey between December 2021 and February 2022 among parents of Primary 4 to 6 students in Hong Kong. Our self-administered online survey collected data regarding socio-demographic characteristics, awareness and knowledge of HPV vaccination, attitudes towards HPV vaccination, and acceptance of HPV vaccination. Characteristics were compared between boys' parents and girls' parents. Factors associated with vaccine acceptance were analysed by multivariate logistic regression. RESULTS: We observed high awareness of HPV vaccination among boys' parents and girls' parents; however, they demonstrated relatively poor knowledge of HPV and the HPV vaccine. An alarming low HPV vaccination uptake rate was also observed. Attitudes towards the HPV vaccine were similar between parent groups. A majority of parents believed that the HPV vaccine was safe and effective in preventing infection. Parents of boys showed lower HPV vaccine acceptance. Factors associated with acceptance differed between parent groups. CONCLUSION: High awareness of HPV and HPV vaccine is predictive of vaccine acceptance. Boys' parents are less likely to accept HPV vaccination and emphasis should be placed on addressing potential HPV vaccine hesitancy in this group. Public education should also aim to raise awareness of government vaccination programme, and implementation of catch-up vaccination programme to school children beyond primary school should be considered.


Subject(s)
Health Knowledge, Attitudes, Practice , Papillomavirus Infections , Papillomavirus Vaccines , Parents , Patient Acceptance of Health Care , Humans , Hong Kong , Male , Female , Papillomavirus Vaccines/administration & dosage , Parents/psychology , Cross-Sectional Studies , Papillomavirus Infections/prevention & control , Child , Patient Acceptance of Health Care/psychology , Patient Acceptance of Health Care/statistics & numerical data , Surveys and Questionnaires , Vaccination/psychology , Vaccination/statistics & numerical data , Adult , Logistic Models , Immunization Programs
4.
Osteoporos Int ; 33(5): 1155-1164, 2022 May.
Article in English | MEDLINE | ID: mdl-35032187

ABSTRACT

To determine denosumab's effectiveness for fracture prevention among postmenopausal women with osteoporosis in East Asia, the risk of fracture was compared between patients continuing denosumab therapy versus patients discontinuing denosumab after one dose. The real-world effectiveness was observed to be consistent with the efficacy demonstrated in the phase III trial. INTRODUCTION: After therapeutic efficacy is demonstrated for subjects in global clinical trials, real-world evidence may provide complementary knowledge of therapeutic effectiveness in a heterogeneous mix of patients seen in clinical practice. This retrospective cohort study was conducted to compare the fracture risk in real-world clinical care received in Taiwan and Hong Kong between a treatment cohort (patients receiving denosumab 60 mg subcutaneously every 6 months) versus an off-treatment cohort (patients discontinuing after 1 dose of denosumab, which has no known clinical benefit) among real-world postmenopausal women. METHODS: This study included 38,906 and 2,835 postmenopausal women receiving denosumab in Taiwan and Hong Kong, respectively. The primary endpoint was hip fracture, and secondary endpoints were clinical vertebral and nonvertebral fractures. Propensity-score-matched analysis, adjusting for known covariates, was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). The robustness of findings was evaluated with a series of sensitivity and quantitative bias analyses. RESULTS: In this study, 554 hip fractures were included in the primary Taiwan population analysis. The crude incidence rate was 0.9 per 100 person-years in the treatment cohort (n = 25,059) and 1.7 per 100 person-years in the off-treatment cohort (n = 13,847). After adjusting for prognostic differences between cohorts, denosumab reduced the risk of hip fractures by 38% (HR = 0.62, CI:0.52-0.75). Risk reductions of similar magnitude were observed for the secondary endpoints and for the analysis of the smaller Hong Kong population. CONCLUSION: The effectiveness of denosumab for fracture reduction among real-world postmenopausal women with osteoporosis was consistent with the efficacy demonstrated in a global clinical trial. REGISTRATION: EnCePP registration number: EUPAS26372; registration date: 12/11/2018.


Subject(s)
Bone Density Conservation Agents , Hip Fractures , Osteoporosis, Postmenopausal , Osteoporosis , Bone Density Conservation Agents/therapeutic use , Denosumab/therapeutic use , Female , Hip Fractures/epidemiology , Hip Fractures/etiology , Hip Fractures/prevention & control , Humans , Osteoporosis/drug therapy , Osteoporosis, Postmenopausal/complications , Osteoporosis, Postmenopausal/drug therapy , Osteoporosis, Postmenopausal/epidemiology , Postmenopause , Retrospective Studies
5.
BMC Geriatr ; 22(1): 443, 2022 05 19.
Article in English | MEDLINE | ID: mdl-35590279

ABSTRACT

BACKGROUND: There is an ample body of literature examining the experiences and outcomes of peer support services for mental health recovery in western countries. However, formal peer support is only recently adapted and piloted to alleviate depression among older people, and little is known about how the peer-to-peer model might be lived out in the older Chinese population. This qualitative study investigated peer supporters' (PS) perspectives of their roles and experiences of rendering formal peer support to community-dwelling older adults at risk of or living with depression in Hong Kong. METHODS: The study adopted a qualitative design. Five semi-structured focus groups were conducted with 27 trained peer supporters between ages 54-74 (21 females and 6 males) who had provided peer-to-peer support to older adults at risk of or living with depression in the community for at least 12 months. Thematic analysis was employed to derive content and meanings from the focus group transcripts. RESULTS: Participants' mean age was 61.9 years; two-thirds of them were retired and the rest still engaged in part-time or full-time employment. Four themes were identified in relations to the roles and experiences in rendering the peer support services: (1) peerness in health and age-related lived experiences; (2) companionship, social and emotional ties beyond formal support; (3) meaningful roles to facilitate older people's functional ability; and (4) hopes and actions against the undesirable outcomes of aging. Being a PS might provide meaningful roles for persons in transition to or living in late adulthood, and enable community-dwelling older adults with depression to maintain functional ability. On the other hand, defining the concept of 'peer' beyond the shared experience of mental distress, ensuring a healthy boundary between the peers and the service users, maintaining a careful balance between time-limited formal support and stable social ties, and providing self-management training and on-going support appear crucial. CONCLUSIONS: This study of PS' perspectives and experiences offer insights into the age-specific dimension of the peer relationship. Despite the promising effects it might offer, careful implementation of peer support among older adults is warranted to safeguard against the ensuing loss of meaningful social ties and the potential emotional distress.


Subject(s)
Depression , Mental Disorders , Adult , Aged , Depression/therapy , Female , Humans , Independent Living , Male , Peer Group , Qualitative Research , Social Support
6.
Echocardiography ; 36(5): 980-986, 2019 May.
Article in English | MEDLINE | ID: mdl-30905087

ABSTRACT

Both transesophageal echocardiography (TEE) and intracardiac echocardiography have been used to assist transvenous lead extractions. The clinical utility of continuous echocardiographic monitoring during the procedure is still debated, with different reports supporting opposite findings. In cases where the procedure is expected to be difficult, we propose adding a continuous TEE monitoring using a static 3D/multiplane probe in mid-esophageal position, with digital remote manipulation of the field of view. This approach may improve the chances of a successful extraction, increase safety, or even guide the entire intervention. We present here a short case series where continuous monitoring by TEE played an important role.


Subject(s)
Device Removal/methods , Echocardiography, Three-Dimensional/methods , Echocardiography, Transesophageal/methods , Heart/diagnostic imaging , Monitoring, Intraoperative/methods , Adult , Aged , Defibrillators, Implantable , Female , Humans , Male , Middle Aged , Pacemaker, Artificial , Radiology, Interventional/methods
7.
Europace ; 20(suppl_2): ii22-ii27, 2018 05 01.
Article in English | MEDLINE | ID: mdl-29722857

ABSTRACT

Aims: Currently, comparative data on procedural and long-term clinical outcome of outflow tract (OT) idiopathic ventricular arrhythmia (IVA) ablation with manual (MAN), contact force (CF), and magnetic navigation system (MNS) ablation are lacking. The aim of this study was to compare the procedural and long-term clinical outcome of MAN, CF, and MNS ablation of OT IVAs. Methods and results: Seventy-three patients (31 MAN, 17 CF, and 25 MNS patients; consecutive per group) with OT IVA, who underwent catheter ablation in our centre were analysed. Procedural success rates (success at the end of the procedure), procedural data and long-term follow-up data were compared. Baseline patient demographics were comparable. Procedural success rates were similar (MAN 81%, 71% CF, and MNS 92%; P = 0.20). Median fluoroscopy time was shorter in the MNS group: MAN 29 (16-38), CF 37 (21-46), and MNS 13 (10-20) min (P = 0.002 for MNS vs. CF and MAN). The overall complication rate was: MAN 10%, CF 0%, and MNS 0% (P = 0.12). Median follow-up was: MAN 2184 (1672-2802), CF 1721 (1404-1913), and MNS 3031 (2524-3286) days (P <0.001). Recurrences occurred in MAN 46%, CF 50%, and MNS 46% (P = 0.97). Repeat procedures were performed in MAN 20%, CF 40%, and MNS 33% (P = 0.32). Conclusion: Procedural and long-term clinical outcome of OT IVA ablation are equal for MAN, CF, and MNS. MNS has a favourable procedural safety profile due to the shorter fluoroscopy time compared with MAN and CF.


Subject(s)
Cardiac Catheterization/methods , Catheter Ablation/methods , Magnetics/methods , Surgery, Computer-Assisted/methods , Tachycardia, Ventricular/surgery , Action Potentials , Adult , Cardiac Catheterization/adverse effects , Cardiac Catheterization/instrumentation , Cardiac Catheters , Catheter Ablation/adverse effects , Catheter Ablation/instrumentation , Electrophysiologic Techniques, Cardiac , Female , Heart Rate , Humans , Magnetics/instrumentation , Magnets , Male , Middle Aged , Pressure , Recurrence , Registries , Risk Factors , Surgery, Computer-Assisted/adverse effects , Surgery, Computer-Assisted/instrumentation , Tachycardia, Ventricular/diagnosis , Tachycardia, Ventricular/physiopathology , Time Factors , Transducers, Pressure , Treatment Outcome
8.
J Chem Phys ; 148(8): 084902, 2018 Feb 28.
Article in English | MEDLINE | ID: mdl-29495783

ABSTRACT

Interactions between nucleoid associated proteins (NAPs) and DNA affect DNA polymer conformation, leading to phenomena such as concentration dependent force-extension behavior. These effects, in turn, also impact the local binding behavior of the protein, such as high forces causing proteins to unbind, or proteins binding favorably to locally bent DNA. We develop a coarse-grained NAP-DNA simulation model that incorporates both force- and concentration-dependent behaviors, in order to study the interplay between NAP binding and DNA conformation. This model system includes multi-state protein binding and unbinding, motivated by prior work, but is now dependent on the local structure of the DNA, which is related to external forces acting on the DNA strand. We observe the expected qualitative binding behavior, where more proteins are bound at lower forces than at higher forces. Our model also includes NAP-induced DNA bending, which affects DNA elasticity. We see semi-quantitative matching of our simulated force-extension behavior to the reported experimental data. By using a coarse-grained simulation, we are also able to look at non-equilibrium behaviors, such as dynamic extension of a DNA strand. We stretch a DNA strand at different rates and at different NAP concentrations to observe how the time scales of the system (such as pulling time and unbinding time) work in concert. When these time scales are similar, we observe measurable rate-dependent changes in the system, which include the number of proteins bound and the force required to extend the DNA molecule. This suggests that the relative time scales of different dynamic processes play an important role in the behavior of NAP-DNA systems.


Subject(s)
DNA-Binding Proteins/chemistry , DNA/chemistry , Models, Molecular , Monte Carlo Method , Thermodynamics
9.
Osteoporos Int ; 27(5): 1747-54, 2016 May.
Article in English | MEDLINE | ID: mdl-26659066

ABSTRACT

UNLABELLED: The study aimed to prospectively evaluate if serum calcium is related to diabetes incidence in Hong Kong Chinese. The results showed that serum calcium has a significant association with increased risk of diabetes. The result of meta-analysis reinforced our findings. INTRODUCTION: This study aimed to evaluate the association of serum calcium, including serum total calcium and albumin-corrected calcium, with incident diabetes in Hong Kong Chinese. METHODS: We conducted a retrospective cohort study in 6096 participants aged 20 or above and free of diabetes at baseline. Serum calcium was measured at baseline. Incident diabetes was determined from several electronic databases. We also searched relevant databases for studies on serum calcium and incident diabetes and conducted a meta-analysis using fixed-effect modeling. RESULTS: During 59,130.9 person-years of follow-up, 631 participants developed diabetes. Serum total calcium and albumin-corrected calcium were associated with incident diabetes in the unadjusted model. After adjusting for demographic and clinical variables, the association remained significant only for serum total calcium (hazard ratio (HR), 1.32 (95 % confidence interval (CI), 1.02-1.70), highest vs. lowest quartile). In a meta-analysis of four studies including the current study, both serum total calcium (pooled risk ratio (RR), 1.38 (95 % CI, 1.15-1.65); I (2) = 5 %, comparing extreme quantiles) and albumin-corrected calcium (pooled RR, 1.29 (95 % CI, 1.03-1.61); I (2) = 0 %, comparing extreme quantiles) were associated with incident diabetes. Penalized regression splines showed that the association of incident diabetes with serum total calcium and albumin-correlated calcium was non-linear and linear, respectively. CONCLUSIONS: Elevated serum calcium concentration is associated with incident diabetes. The mechanism underlying this association warrants further investigation.


Subject(s)
Calcium/blood , Diabetes Mellitus, Type 2/blood , Adult , Aged , Aged, 80 and over , Diabetes Mellitus, Type 2/epidemiology , Hong Kong/epidemiology , Humans , Incidence , Middle Aged , Observational Studies as Topic , Retrospective Studies , Risk Factors , Serum Albumin/analysis , Young Adult
10.
Psychol Health Med ; 21(4): 401-412, 2016 Jun.
Article in English | MEDLINE | ID: mdl-26325347

ABSTRACT

Mental health care workers face heavy emotional demand and are prone to work burnout. Work burnout has been associated with poor mental health and work climate, which refers to individual perceptions about work setting. The purpose of this study was to examine whether intra-individual changes in work climate were associated with intra-individual changes in burnout and depression over two years. The present sample included Chinese mental health care workers (N = 312; mean age = 38.6, SD = 9.9) working in a psychosocial rehabilitation institution. The participants completed questionnaires on work climate, work burnout and depression at seven time points across two years. Parallel process latent growth modeling was used to analyze the associations of change between work climate and burnout and depression. Work climate displayed a logarithmic decreasing trend while burnout and depression displayed logarithmic increasing trends over two years. Baseline levels of work climate were negatively and moderately associated with baseline levels of burnout and depression (r = -.44 to -.60, p < .01). Changes in work climate were negatively and moderately associated with change in burnout (r = -.43, p < .01) and change in depression (r = -.31, p < .05). Change in burnout was positively and strongly associated (r = .58, p < .01) with change in depression. The current results support temporal relationships among changes in work climate, burnout and depression across time. Practical implications for future preventive work in burnout interventions were discussed within this population.

11.
Circulation ; 127(11): 1184-91, e1-4, 2013 Mar 19.
Article in English | MEDLINE | ID: mdl-23426105

ABSTRACT

BACKGROUND: Discrete subaortic stenosis is notable for its unpredictable hemodynamic progression in childhood and high reoperation rate; however, data about adulthood are scarce. METHODS AND RESULTS: Adult patients who previously underwent surgery for discrete subaortic stenosis were included in this retrospective multicenter cohort study. Mixed-effects and joint models were used to assess the postoperative progression of discrete subaortic stenosis and aortic regurgitation, as well as reoperation. A total of 313 patients at 4 centers were included (age at baseline, 20.2 years [25th-75th percentile, 18.4-31.0 years]; 52% male). Median follow-up duration was 12.9 years (25th-75th percentile, 6.2-20.1 years), yielding 5617 patient-years. The peak instantaneous left ventricular outflow tract gradient decreased from 75.7±28.0 mm Hg preoperatively to 15.1±14.1 mm Hg postoperatively (P<0.001) and thereafter increased over time at a rate of 1.31±0.16 mm Hg/y (P=0.001). Mild aortic regurgitation was present in 68% but generally did not progress over time (P=0.76). A preoperative left ventricular outflow tract gradient ≥80 mm Hg was a predictor for progression to moderate aortic regurgitation postoperatively. Eighty patients required at least 1 reoperation (1.8% per patient-year). Predictors for reoperation included female sex (hazard ratio, 1.53; 95% confidence interval, 1.02-2.30) and left ventricular outflow tract gradient progression (hazard ratio, 1.45; 95% confidence interval, 1.31-1.62). Additional myectomy did not reduce the risk for reoperation (P=0.92) but significantly increased the risk of a complete heart block requiring pacemaker implantation (8.1% versus 1.7%; P=0.005). CONCLUSIONS: Survival is excellent after surgery for discrete subaortic stenosis; however, reoperation for recurrent discrete subaortic stenosis is not uncommon. Over time, the left ventricular outflow tract gradient slowly increases and mild aortic regurgitation is common, although generally nonprogressive over time. Myectomy does not show additional advantages, and because it is associated with an increased risk of complete heart block, it should not be performed routinely.


Subject(s)
Age Factors , Discrete Subaortic Stenosis/mortality , Discrete Subaortic Stenosis/surgery , Disease Progression , Adolescent , Adult , Aortic Valve Insufficiency/epidemiology , Cohort Studies , Female , Humans , Incidence , Male , Reoperation/statistics & numerical data , Retrospective Studies , Survival Rate , Treatment Outcome , Young Adult
12.
Br J Cancer ; 110(2): 530-4, 2014 Jan 21.
Article in English | MEDLINE | ID: mdl-24292448

ABSTRACT

BACKGROUND: The BRCA1 and BRCA2 genes confer increased susceptibility to breast and ovarian cancer and to a spectrum of other cancers. There is controversy regarding the risk of colorectal cancer conferred by germline mutations in these two genes. METHODS: We followed 7015 women with a BRCA mutation for new cases of colorectal cancer. Incidence rates in carriers were compared with population-specific incidence rates, and standardised incidence ratios (SIRs) were estimated. The expected numbers of cancers were computed by multiplying person-years at risk by the appropriate age-, sex- and country-specific incidence rates from the five countries. RESULTS: Twenty-one incident colorectal cancer cases were observed among all mutation carriers, compared with 23.6 cases expected. The SIR for BRCA1 carriers was 0.92 (95% confidence interval (CI), 0.54-1.40, P=0.7) and for BRCA2 carriers was 0.82 (95% CI, 0.30-1.81, P=0.7). The SIR for colon cancer was 3.81 (95% CI 1.77-7.23) for women below the age of 50 years (both genes combined) and was 0.60 (95% CI 0.33-1.00) for women aged 50 years and above. CONCLUSION: The risk of colorectal cancer is increased in female carriers of BRCA1 mutations below the age of 50 years but not in women with BRCA2 mutations or in older women.


Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Colorectal Neoplasms/genetics , Germ-Line Mutation , Canada/epidemiology , Colorectal Neoplasms/epidemiology , Europe/epidemiology , Female , Follow-Up Studies , Genes, BRCA1 , Genes, BRCA2 , Genetic Predisposition to Disease , Humans , Incidence , Middle Aged , Risk , United States/epidemiology
13.
Clin Genet ; 85(1): 21-30, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23859469

ABSTRACT

There is a significant variation in the uptake of cancer risk reducing options by women with a BRCA1 or BRCA2 mutation. It is currently unclear why these differences exist and it is possible that recommendations vary between providers and these influence patient decisions. Eligible health care providers who provide genetic counseling for hereditary breast and ovarian cancer families in Canada were identified. Each provider was asked to complete a study specific questionnaire that included their opinion of various cancer risk reduction options and their recommendations for specific cases. Respondents recommended prophylactic oophorectomy more often than prophylactic mastectomy or tamoxifen for women with a BRCA1 or BRCA2 mutation (p < 0.0001). Fewer than half of the respondents agreed with the recommendation for prophylactic mastectomy, and a minority of the respondents supported the recommendation for tamoxifen for chemoprevention. The majority of Canadian genetics health care providers adhere to the National Comprehensive Cancer Network (NCCN) Guideline of recommending prophylactic oophorectomy to mutation carriers, however, the minority of genetics health care providers recommend either prophylactic mastectomy or tamoxifen.


Subject(s)
Genes, BRCA1 , Genes, BRCA2 , Health Personnel , Mutation , Neoplasms/genetics , Neoplasms/prevention & control , Practice Guidelines as Topic , Adult , Age Factors , Age of Onset , Breast Neoplasms/genetics , Breast Neoplasms/prevention & control , Canada , Female , Genetic Counseling , Hereditary Breast and Ovarian Cancer Syndrome/genetics , Hereditary Breast and Ovarian Cancer Syndrome/prevention & control , Humans , Male , Mastectomy , Middle Aged , Ovarian Neoplasms/genetics , Ovarian Neoplasms/prevention & control , Ovariectomy , Premedication , Surveys and Questionnaires , Tamoxifen/therapeutic use
14.
PLoS Genet ; 7(4): e1001372, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21533022

ABSTRACT

Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral density (BMD) is a major predisposing factor to fracture and is known to be highly heritable. Site-, gender-, and age-specific genetic effects on BMD are thought to be significant, but have largely not been considered in the design of genome-wide association studies (GWAS) of BMD to date. We report here a GWAS using a novel study design focusing on women of a specific age (postmenopausal women, age 55-85 years), with either extreme high or low hip BMD (age- and gender-adjusted BMD z-scores of +1.5 to +4.0, n = 1055, or -4.0 to -1.5, n = 900), with replication in cohorts of women drawn from the general population (n = 20,898). The study replicates 21 of 26 known BMD-associated genes. Additionally, we report suggestive association of a further six new genetic associations in or around the genes CLCN7, GALNT3, IBSP, LTBP3, RSPO3, and SOX4, with replication in two independent datasets. A novel mouse model with a loss-of-function mutation in GALNT3 is also reported, which has high bone mass, supporting the involvement of this gene in BMD determination. In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies.


Subject(s)
Bone Density , Fractures, Bone/genetics , Genome-Wide Association Study , N-Acetylgalactosaminyltransferases/genetics , Osteoporosis, Postmenopausal/genetics , Thrombospondins/genetics , Aged , Aged, 80 and over , Animals , Case-Control Studies , Chloride Channels/genetics , Chromosomes, Human/genetics , Cohort Studies , Disease Models, Animal , Female , Genotype , Humans , Integrin-Binding Sialoprotein/genetics , Latent TGF-beta Binding Proteins/genetics , Male , Mice , Middle Aged , Models, Animal , Mutation , Polymorphism, Single Nucleotide , Proteoglycans/genetics , Receptors, Transforming Growth Factor beta/genetics , SOXC Transcription Factors/genetics , Polypeptide N-acetylgalactosaminyltransferase
15.
Eur Heart J ; 34(21): 1548-56, 2013 Jun.
Article in English | MEDLINE | ID: mdl-23242191

ABSTRACT

AIMS: Discrete subaortic stenosis (DSS) is often diagnosed early in life and known for its sometimes rapid haemodynamic progression in childhood and strong association with aortic regurgitation (AR). However, data about the evolution of DSS in adulthood are scarce. Therefore, we aimed to evaluate the natural history of DSS, and identify risk factors for the progression of DSS, AR, and intervention-free survival. METHODS AND RESULTS: Conservatively managed adult DSS patients were included in this retrospective multicentre cohort study. Mixed-effects and joint models were used to assess the progression of DSS and AR, and intervention-free survival. Longitudinal natural history data were available for 149 patients [age 20 (IQR: 18-34) years, 48% male]. Sixty patients (40.3%) had associated congenital heart defects (CHDs). The median follow-up duration was 6.3 (IQR: 3.0-12.4) years. The baseline peak left ventricular outflow tract (LVOT) gradient was 32.3 ± 17.0 mmHg and increased by 0.8 ± 0.1 mmHg/year. While the baseline LVOT gradient (P = 0.891) or age (P = 0.421) did not influence the progression rate, the presence of associated CHD was associated with faster progression (P = 0.005). Mild AR was common (58%), but did not significantly progress over time (P = 0.701). The median intervention-free survival was 16 years and associated with the baseline LVOT gradient [hazard ratio (HR) = 3.9 (95% CI: 2.0-7.6)], DSS progression [HR = 2.6 (95% CI: 2.0-3.5)], and AR [HR = 6.4 (95% CI 2.6-15.6)]. CONCLUSION: In contrast to children, DSS progresses slowly in adulthood. In particular, patients with associated CHD are at risk for faster progression and should be monitored cautiously. Discrete subaortic stenosis progression is not influenced by the baseline LVOT gradient or age. Mild AR is common, but non-progressive over time.


Subject(s)
Discrete Subaortic Stenosis/etiology , Adolescent , Adult , Aortic Valve Insufficiency/etiology , Aortic Valve Insufficiency/mortality , Cardiac Valve Annuloplasty/mortality , Cardiac Valve Annuloplasty/statistics & numerical data , Discrete Subaortic Stenosis/mortality , Discrete Subaortic Stenosis/surgery , Disease Progression , Female , Follow-Up Studies , Heart Defects, Congenital/complications , Heart Defects, Congenital/mortality , Heart Valve Prosthesis Implantation/mortality , Heart Valve Prosthesis Implantation/statistics & numerical data , Humans , Kaplan-Meier Estimate , Male , Prognosis , Retrospective Studies , Risk Factors , Young Adult
16.
Hong Kong Med J ; 20(3): 213-21, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24812199

ABSTRACT

OBJECTIVES: To review the pregnancy outcomes of non-booked, non-local pregnant women delivering in Kwong Wah Hospital via admission to the Accident and Emergency Department 1 year after the announcement by the Hospital Authority to stop antenatal booking for non-eligible persons; and to perform a literature review of local studies about non-eligible person deliveries over the last decade. DESIGN: Case series. SETTING: A public hospital in Hong Kong. PARTICIPANTS: All women who held the People's Republic of China passport or the two-way permit and those non-eligible persons whose spouses were Hong Kong Identity Card holders, who delivered in Kwong Wah Hospital from 1 April 2011 to 31 March 2012. RESULTS: Overall, 219 women who were non-eligible persons delivered 221 live births during the study period. Compared with the annual statistics of Kwong Wah Hospital in 2011, non-local mothers were of higher parity; more likely to have hypertensive disease (including pre-eclamptic toxaemia), preterm deliveries (ie at <37 weeks), babies needing admission to the special care baby unit, and macrosomic babies (ie weighing >4.0 kg). The rates of induction of labour and caesarean section were lower in this group. There was no significant difference in the maternal and neonatal outcomes between women who had no booking and those who had a booking in another Hospital Authority or private hospital. There were many incidents of near-miss obstetric complications or suboptimally managed obstetric conditions due to lack of well-structured and continuous antenatal care in this group of non-eligible persons. CONCLUSION: Non-eligible person delivering babies in Hong Kong has become a social obstetrics phenomenon. Despite the introduction of policies, reduction in the number of deliveries (quantity) did not improve the obstetric outcomes (quality). Health care professionals should continue to be prepared for managing the potential near-miss clinical complications in this group of 'travelling mothers'.


Subject(s)
Delivery, Obstetric/statistics & numerical data , Hospitals, Public/statistics & numerical data , Travel , Adult , Emergency Service, Hospital , Female , Hong Kong/epidemiology , Hospitalization , Humans , Infant, Newborn , Male , Pregnancy , Retrospective Studies
17.
Curr Oncol ; 21(2): 64-8, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24764694

ABSTRACT

BACKGROUND: The risk of breast cancer in carriers of BRCA1 and BRCA2 mutations is influenced by factors other than the genetic mutation itself. Modifying factors include a woman's reproductive history and family history of cancer. Risk factors are more likely to be present in women with breast cancer than in women without breast cancer, and therefore the risk of cancer in the two breasts should not be independent. It is not clear to what extent modifying factors influence the risk of a first primary or a contralateral breast cancer in BRCA carriers. METHODS: We conducted a matched case-control study of breast cancer among 3920 BRCA1 or BRCA2 mutation carriers. We asked whether a past history of breast cancer in the contralateral breast was a risk factor for breast cancer. RESULTS: After adjustment for age, country of residence, and cancer treatment, a previous cancer of the right breast was found to be a significant risk factor for cancer of the left breast among BRCA1 or BRCA2 carriers (relative risk: 2.1; 95% confidence interval: 1.4 to 3.0; p < 0.0001). CONCLUSIONS: In a woman with a BRCA1 or BRCA2 mutation who is diagnosed with breast cancer, the risk of cancer in the contralateral breast depends on the first diagnosis. That observation supports the hypothesis that there are important genetic or non-genetic modifiers of cancer risk in BRCA carriers. Discovering risk modifiers might lead to greater personalization of risk assessment and management recommendations for BRCA-positive patients.

18.
Eur J Cancer Care (Engl) ; 22(5): 663-72, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23731223

ABSTRACT

In an ongoing longitudinal qualitative cohort study of cancer patients' needs and preferences across the cancer journey, we harvested a subset of accounts pertaining to conversations between patients and their clinicians around clinical trials. Recognising these conversations as a departure from the more routine discourses of clinical care, in that they enter into new dimensions of investment and motivation on the part of clinicians, we engaged in both secondary analysis of banked data and focussed interviewing of cancer patients to better understand how cancer patients describe communications in relation to decisions pertaining to clinical trials participation. Using constant comparative techniques informed by the interpretive description approach to applied qualitative methodology to guide a systematic analysis of this set of data, we documented patterns and themes across patient accounts. The resulting thematic depiction of clinical trials discourses from a patient perspective contrasts with assumptions apparent in the professional literature relating to the clinical advantage of trials participation, and illuminates aspects of patient-clinician interaction that are particularly amenable to disruption within this delicate and nuanced discourse. Findings from this study have implications for our understanding of the complexities of cancer communication at the delicate intersection of patient care and knowledge generation.


Subject(s)
Clinical Trials as Topic/psychology , Communication , Neoplasms/psychology , Physician-Patient Relations , Adult , Aged , Cues , Decision Making , Female , Humans , Longitudinal Studies , Male , Middle Aged , Needs Assessment , Neoplasms/therapy , Patient Participation , Patient Preference , Patient-Centered Care/organization & administration
19.
Echocardiography ; 30(5): 497-504, 2013 May.
Article in English | MEDLINE | ID: mdl-23305528

ABSTRACT

OBJECTIVES/BACKGROUND: Congenital aortic stenosis (AS) is the most common obstructive left heart lesion in the young adult population and often complicated by aortic dilatation. Our objective was to evaluate accuracy of aortic imaging with transthoracic echocardiography (TTE) compared with cardiac magnetic resonance (CMR). METHODS: Aortic diameters were measured at 4 levels by CMR and TTE. Agreement and concordance were assessed by Pearson's correlation and Bland-Altman analysis. RESULTS: Fifty-nine patients (age 33 ± 8 years; 66% male) with congenital AS and a bicuspid aortic valve (BAV) were included. Aortic diameters were generally smaller with TTE than with CMR. The best correlation was found at the level of the sinotubular junction (R(2) = 0.78) with a bias of 1.46 mm (limits of agreement: -5.47 to +8.39 mm). In patients with an aortic aneurysm >40 mm (n = 29) the correlation and agreement between TTE and CMR were found to be less good when compared with patients with normal aortic diameters, especially at the level of the proximal ascending aorta. The correlation and agreement between both imaging modalities were better in patients with type 1 BAV compared with type 2 BAV. Intra- and interobserver variability was smaller with CMR (1.8-5.9%) compared with TTE (6.9-15.0%). CONCLUSIONS: CMR was found to be superior to TTE for imaging of the aorta in patients with congenital AS, especially at the level of the proximal ascending aorta when an aortic aneurysm is present. Therefore, ideally CMR should be performed at least once to ensure an ascending aortic aneurysm is not missed.


Subject(s)
Aorta/diagnostic imaging , Aorta/pathology , Aortic Valve Stenosis/congenital , Aortic Valve Stenosis/diagnosis , Echocardiography/methods , Magnetic Resonance Imaging, Cine/methods , Adolescent , Adult , Aortic Aneurysm/diagnosis , Cohort Studies , Diagnostic Imaging/methods , Female , Humans , Male , Middle Aged , Mitral Valve/diagnostic imaging , Mitral Valve/pathology , Observer Variation , Prospective Studies , Reproducibility of Results , Risk Assessment , Young Adult
20.
Hong Kong Med J ; 19(5): 393-9, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23878201

ABSTRACT

OBJECTIVES: To evaluate the efficacy of a birth ball exercise programme conducted by physiotherapists on pain relief, psychological care, and facilitation of the labour process at a labour ward in a regional hospital. DESIGN: Case series with before-after comparisons. SETTING: Kwong Wah Hospital, Hong Kong. PARTICIPANTS: Chinese women admitted to the labour ward for spontaneous vaginal delivery between April and August 2012 were recruited. Physiotherapists taught birth ball exercises in groups or individually for 30 minutes. Labour pain intensity, back pain intensity, frequency of labour pain, stress and anxiety levels, and subjective pressure level over the lower abdomen were captured before and after birth ball exercises. Most of the parameters were measured using self-reported visual analogue scales. After the exercise session, physiotherapists measured the women's satisfaction level. Midwives recorded pethidine usage. RESULTS: A total of 203 pregnant women participated in this programme; 181 were in the latent phase group, whereas 22 were categorised into the no-labour-pain group. In both groups, there were statistically and clinically significant differences in back pain level, stress and anxiety levels, as well as pressure level over the lower abdomen before and after the exercise (P<0.05). In the latent phase group, significant decreases in labour pain and frequency of labour pain were demonstrated. Mean satisfaction scores were high, with visual analogue scale scores higher than 8.2 in both groups. Pethidine usage showed a further decreasing trend (6.4%) compared with the past 2 years. CONCLUSION: Birth ball exercise could be an alternative means of relieving back pain and labour pain in the labour ward, and could decrease pethidine consumption in labouring women.


Subject(s)
Exercise Therapy/methods , Labor Pain/therapy , Labor, Obstetric , Patient Satisfaction , Adult , Analgesics, Opioid/administration & dosage , Anxiety/etiology , Anxiety/therapy , Delivery, Obstetric , Female , Hong Kong , Humans , Meperidine/administration & dosage , Pain Measurement , Pregnancy , Stress, Psychological/etiology , Stress, Psychological/therapy
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