OBJECTIVE: We sought to investigate the incidence of gene mosaicism in patients with PIDs.
METHODS: The amplicon-based deep sequencing method was used in the 3 parts of the study that establish (1) the allele frequency of germline variants (n = 100), (2) the incidence of parental gonosomal mosaicism in families with PIDs with de novo mutations (n = 92), and (3) the incidence of mosaicism in families with PIDs with moderate-to-high suspicion of gene mosaicism (n = 36). Additional investigations evaluated body distribution of postzygotic mutations, their stability over time, and their characteristics.
RESULTS: The range of allele frequency (44.1% to 55.6%) was established for germline variants. Those with minor allele frequencies of less than 44.1% were assumed to be postzygotic. Mosaicism was detected in 30 (23.4%) of 128 families with PIDs, with a variable minor allele frequency (0.8% to 40.5%). Parental gonosomal mosaicism was detected in 6 (6.5%) of 92 families with de novo mutations, and a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicion of gene mosaicism. In most analyzed cases mosaicism was found to be both uniformly distributed and stable over time.
CONCLUSION: This study represents the largest performed to date to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enrolled families. Our results might have serious consequences regarding treatment and genetic counseling and reinforce the use of next-generation sequencing-based methods in the routine analyses of PIDs.
MATERIALS AND METHODS: This prospective randomised control trial was conducted on smokers in a factory. A total of 163 participants were recruited and randomised into control and intervention groups using a table of random numbers. The intervention group received a ten-minute brief physician counselling session to quit smoking. Stages of smoking behaviour were measured in both groups using a translated and validated questionnaire at baseline, one month and three months post intervention.
RESULTS: There was a significant improvement in smoking behaviour at one-month post intervention (p=0.024, intention to treat analysis; OR=2.525; CI=1.109-5.747). This was not significant at three-month post intervention (p=0.946, intention to treat analysis; OR=1.026; 95% CI=0.486-2.168).
CONCLUSIONS: A session of brief physician counselling was effective in improving smokers' behaviour at workplace, but the effect was not sustained.
METHODS: A total of 1113 patient dispenser interactions were observed from a randomly selected sample of 371 pharmacies by using convenient sampling technique in the three respective cities namely Islamabad (118), Peshawar (120) and Lahore (133). The data collection tool was adapted from WHO structure observation form and was modified according to the objectives of the study.
MAIN OUTCOME MEASURES: The process of prescription handling at community pharmacies in terms of patient dispenser interaction, prescription validation and medication counseling was assessed. The data was coded, entered and analyzed by using SPSS Version 16.
RESULTS: A total of 1113 patient dispenser interactions were observed at the community pharmacies in the three respective cities namely Islamabad (n = 354), Peshawar (n = 360) and Lahore (n = 399). Out of 1113 patient/dispenser interactions the providers present at the community pharmacies were; pharmacist (degree of B-pharm/pharm D) 1.6% (n = 18), pharmacy assistant (diploma in pharmacy) 7% (n = 78), diploma holder (certified course of drug dispensing) 5.6% (n = 62) and salesmen (no medicine related education) 85.8% (n = 955).There was no significant difference in the practice between pharmacists, pharmacy assistants, diploma holders and salesmen. Prescription validation was carried out in 18% (n = 206) of the cases, drugs verification in 32% (n = 360) of the cases while labelling of drugs was performed in only 6% (n = 76) of the cases. Completely counselling about medication was provided in 3.1% (n = 35) of the cases while no counselling at all was given in 52.7% (n = 582) of the cases.
CONCLUSION: The process of medication counselling and dispensing practices at community pharmacies in Pakistan is not satisfactory. The patients are largely handled by unqualified salesmen. Thus there is a strong need to improve medication counselling and dispensing practices at community pharmacies by improving the skills of the dispensers through a mix of interventions, and law should be implemented to ensure presence of qualified person which in turn will result in the provision of better patient oriented services at community pharmacies.
METHOD: A mixed methods approach will be used. Qualitative part: Design: focus group discussions (FGDs) will be conducted.
SETTING: Hospital/NGOs in Terengganu, Malaysia.
PARTICIPANTS: Three FGDs will be conducted with male and female HIV/AIDS patients, and one group of local community leaders. One FGD will be conducted for each group. Three in-depth interviews (IDIs) will be conducted with patients who had HIV/AIDS, of which one will be female. Quantitative part: Design: a cluster randomized clinical trial with 384 HIV/AIDS patients in Terengganu, Malaysia.
INTERVENTION: Mobile SMS counselling intervention for patients concerning the prevention of HIV/AIDS.
RESULTS: The main outcomes of this study will be the differences in knowledge, attitude, and practices of patients concerning the prevention of HIV/AIDS between the baseline and immediate follow-up after the intervention, and after 3 months.
CONCLUSIONS: The mobile based SMS counselling intervention developed will be effective in improving the knowledge, attitude, and practices of patients concerning HIV/AIDS prevention in Terengganu, Malaysia.
TRIAL REGISTRATION: Thai Clinical Trials Registry, TCTR20200212001; 7/02/2020.
Methods: A TCTM for students of dentistry was developed using ADDIE framework as a guide. Content and construct validation of the module was done by six subject experts using Delphi technique for obtaining consensus. Pilot testing was done on 20 students of third year BDS. Pre- and post-intervention assessment of knowledge, attitude, self-confidence was done using learning outcomes questionnaire. Ability to correctly identify oral manifestations was assessed using extended item MCQs and tobacco counseling skills using a modified KEECC. The difference in mean scores were computed and subjected to further statistical analysis using SPSS version 22.
Results: There was a significant improvement in post intervention scores for mean knowledge (5.5 ± 1.4 to 13.2 ± 1.1), attitude (5.6 ± 0.9 and 8.5 ± 0.5), self-confidence (1.5 ± 0.5 and 3.1 ± 0.2), ability to correctly identify oral manifestations (5.2 ± 1.4 and 9.4 ± 0.8) and tobacco counseling skills.
Conclusion: It is possible to introduce the module in the existing curriculum and its effectiveness evaluation shows benefit in terms of Kirkpatrick's Level 1, 2, 3 (improvement in knowledge, attitude, self-confidence, ability to identify oral manifestations, and tobacco counseling skills) of training effectiveness.