METHODS: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity.
RESULTS: Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)-positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants.
CONCLUSIONS: The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.).
METHODOLOGY: A cross-sectional study was conducted at a university primary care clinic. Patients aged 18 to 80 years old with MetS were recruited. Socio-demographic characteristic, clinical characteristics and information on TCM use and its pattern were recorded in a proforma. Patient's experience of chronic disease conventional care was measured using PACIC-M questionnaire. The comparison of PACIC-M mean score between TCM users and non-users was measured using independent t-test. The factors associated with TCM use were determined by simple logistic regression (SLogR), followed by multiple logistic regression (MLogR).
RESULTS: Out of 394 participants, 381 (96.7%) were included in the final analysis. Of the 381 participants, 255 (66.9%) were TCM users (95% CI 62.7, 71.7). Only 36.9% of users disclosed about TCM use to their health care providers (HCP). The overall mean PACIC-M score was 2.91 (SD ± 0.04). TCM users had significantly higher mean PACIC-M score compared to non-users (2.98 ± 0.74 vs 2.75 ± 0.72, p = 0.01). The independent factors associated with TCM use were being female (Adj. OR 2.50, 95% CI 1.55, 4.06), having high education level (Adj. OR 2.16, 95% CI 1.37, 3.41) and having high overall PACIC-M mean score (Adj. OR 1.49, 95% CI 1.10, 2.03).
CONCLUSION: TCM use was highly prevalent in this primary care clinic. However, the disclosure rate of TCM use to HCP was low. Females, those with high education and high PACIC-M mean score were more likely to use TCM. Further research should explore the reasons for their TCM use, despite having good experience in conventional chronic disease care.
METHODS: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers.
RESULTS: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG).
CONCLUSIONS: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.
METHODS: Subjects were recruited among those responding to a social media announcement or patients attending the SEGi Oral Health Care Centre between May and December 2019, and among some staff at the centre. Five ml of unstimulated whole saliva was collected and salivary LDH enzyme activity levels were measured with a LDH colorimetric assay kit. Salivary LDH activity level was determined for each group and compared statistically.
RESULTS: Eighty-eight subjects were categorized into three groups (control n=30, smokers n=29, and vapers n=29). The mean ± standard deviation (SD) values for salivary LDH activity levels for vapers, smokers, and control groups were 35.15 ± 24.34 mU/ml, 30.82 ± 20.73 mU/ml, and 21.45 ± 15.30 mU/ml, respectively. The salivary LDH activity levels of smoker and vaper groups were significantly higher than in the control group (p = 0.031; 0.017). There was no significant difference of salivary LDH activity level in vapers when compared with smokers (p= 0.234).
CONCLUSION: Our findings showed higher LDH levels in the saliva of vapers when compared with controls, confirming cytotoxic and harmful effects of e-cigarettes on the oral mucosa.
OBJECTIVES: This paper aims to identify requirements in developing a breast examination awareness mobile app based on the component of the Health Belief Model (HBM) for integration in health promotion strategy.
METHODS: A qualitative approach using semi-structured in-depth interview was utilized in this study. A purposive sampling method was conducted among public women attending hospital services, software and content experts in a tertiary teaching hospital in the East coast of Peninsular Malaysia. These interviews were recorded, transcribed and organized using NVIVO 11. The main themes were identified through thematic analysis of the interview transcripts. Results: A total of 37 participants recruited in this study. The themes that emerged from the analysis are vulnerability, forecasting, reactive, influence, outcome and obstacles. The sub-themes findings supported the HBM's component in terms of the requirement for are an infographic risk factor, video (symptoms, self-examination), info (metastasis, survival, screening, triple assessment, treatment, myth and facts, benefit of early treatment, support groups), features (screening reminder, sharing button, prompt) and mobile app's design.
CONCLUSION: The research findings could provide a guide for future app development from public women, content and software experts. The information will be used to develop a breast examination awareness mobile app integrated with health theories.
METHODS: A cross-sectional population-based study was conducted among Malaysian adults aged ≥ 18 years old. The data was collected by mixed mode self-administered questionnaire from May 2019 to September 2019. Nocturia was defined as one or more voids at night.
RESULTS: There were a total of 4616 respondents with 74.5% of response rate. The overall prevalence of nocturia among Malaysian adults was found to be 57.3%. In multivariate analysis, respondents aged 31-40 (1.91 [1.52-2.40]) or > 60 years old (2.03 [1.48-2.71]), and those who presented with hypertension (2.84 [2.28-3.53]), diabetes mellitus (1.78 [1.42-2.25]), renal disease (3.58 [1.93-6.63]) or overactive bladder (1.61 [1.10-2.35]) were associated with higher prevalence of nocturia. A significantly lower disease prevalence (p adults is high and strongly influenced by age, sex, race and comorbidities. However, the general awareness pertaining to nocturia being a health issue remains low among Malaysians. The findings also highlighted the impact of nocturia on sleep and the need for nocturia education to better address this disease.
Results: A total of 506 dental professionals participated in the study with the response rate of 89.39%. More than half of the participants (50-75%) endorsed that teledentistry is a useful tool for improving clinical practice as well as patient care. Two-thirds of the participants (69.96%) considered that teledentistry would reduce cost for the dental practices. On the other hand, about 50-70% of dental professionals expressed their concerns regarding the security of the data and consent of patients. The most preferred communication tool for teledentistry was reported to be videoconference followed by phone. The majority of participants recommended the use of teledentistry in the specialty of oral medicine, operative dentistry, and periodontics. There was a significant difference between the age, experience of dentists, and their qualifications with domains of teledentistry.
Conclusions: The overall impact of dental professionals towards teledentistry was positive with adequate willingness to incorporate this modality in their clinical practice. However, the perceived concerns pertaining to teledentistry are significant impediments towards its integration within the oral health system. An in-depth study of its business model and cost-benefit needs of time, especially in the context of developing countries, in order to avail the optimum benefits of teledentistry.
METHODS: We observed 70 SUs and 148 DUs for 52 weeks and tested their exhaled carbon monoxide and saliva cotinine to confirm their complete nicotine cessation status through cotinine in saliva. Safety issues were to be identified through self-report. Smoking cessation, CCs reduction of ≥ 50%, and relapsed to CCs smoking and safety issues were also documented.
RESULTS: The nicotine cessation rate was higher in SUs then DUs (15.9% vs. 6.8%; P = 0.048; 95% CI (2.328-0.902). A similar result for smoking cessation (34.8% SUs vs. 17.1% DUs; P = 0.005; 95% CI: 2.031-0.787), whereas CCs ≥ 50% reduction was 23.3% DUs vs 21.7% SUs (P = 0.863; 95% CI :1.020-0.964). Relapse to CC smoking was 47.3% in DUs versus 30.4% in SUs (P = 0.026; 95% CI: 1.555-0.757). The adverse effects reported were coughing and breathing problems, whereas craving smoking was documented as a major withdrawal symptom. Smoking-related diseases were also identified, five in DUs and two in SUs, during the one-year study period.
CONCLUSIONS: Study showed SUs achieved higher complete nicotine and smoking cessation rates as compared to DUs. However, the rates of reduced CC use were not different between both the groups. No serious adverse effects related to the sole use of ECs were detected. However, the safety of the sole use of ECs in absolute terms needs to be further validated in different populations.
METHODS: Retrospective review of a 310 PMD patient cohort presenting to Maxillofacial Surgery in Newcastle upon Tyne with new, single-site lesions between December 2009 and May 2014. Patients underwent Orcellex® brush biopsy and liquid-based cytology examination in addition to conventional biopsy techniques, with management proceeding along established care pathways. Patient demographics, cytology data, most significant histopathology diagnoses and clinical outcome were all documented at the study census date (31.12.15).
RESULTS: A total of 170 male & 140 female patients (age range 18-91 years), exhibiting primarily leukoplakia (86.5%) at floor of mouth and ventrolateral tongue sites (44.9%), were identified. Management comprised: observation (49.7%), laser surgery (44.9%), antifungal treatment (3.5%) and Head & Neck clinic referral following cancer diagnosis (1.9%). Clinical outcomes were as follows: disease free (51.3%), persistent PMD (42.3%) and malignant transformation (6.4%). Histology and cytology diagnoses strongly correlated (r = .305). Treatment modality, lesion site, histology and cytology diagnoses were the best predictors of clinical outcome.
CONCLUSIONS: Orcellex® brush cytology provides reliable diagnoses consistent with conventional histopathology and offers less invasive, adjunctive assessment appropriate for long-term monitoring of patients in specialist clinics.