ABSTRACT
BACKGROUND: Systematic biases in group decision making (i.e., group biases) may result in suboptimal decisions and potentially harm patients. It is not well known how impaired group decision making in patient care may affect medical training. This study aimed to explore medical residents' experiences and perspectives regarding impaired group decision making and the role of group biases in medical decision making. METHODS: This study used a qualitative approach with thematic analysis underpinned by a social constructionist epistemology. Semi-structured interviews of medical residents were conducted at a single internal medicine residency program. Residents were initially asked about their experiences with suboptimal medical decision making as a group or team. Then, questions were targeted to several group biases (groupthink, social loafing, escalation of commitment). Interviews were transcribed and transferred to a qualitative data analysis software. Thematic analysis was conducted to generate major themes within the dataset. RESULTS: Sixteen interviews with residents revealed five major themes: (1) hierarchical influence on group decision making; (2) group decision making under pressure; (3) post-call challenges in decision making; (4) interactions between teamwork and decision making; and (5) personal and cultural influences in group decision making. Subthemes were also identified for each major theme. Most residents were able to recognize groupthink in their past experiences working with medical teams. Residents perceived social loafing or escalation of commitment as less relevant for medical team decision making. CONCLUSIONS: Our findings provide unique insights into the complexities of group decision making processes in teaching hospitals. Team hierarchy significantly influenced residents' experiences with group decision making-most group decisions were attributed to consultants or senior team members, while lower ranking team members contributed less and perceived fewer opportunities to engage in group decisions. Other factors such as time constraints on decision making, perceived pressures from other staff members, and challenges associated with post-call days were identified as important barriers to optimal group decision making in patient care. Future studies may build upon these findings to enhance our understanding of medical team decision making and develop strategies to improve group decisions, ultimately leading to higher quality patient care and training.
Subject(s)
Internship and Residency , Qualitative Research , Humans , Female , Male , Group Processes , Clinical Decision-Making , Adult , Attitude of Health Personnel , Internal Medicine/education , Interviews as Topic , Decision MakingABSTRACT
INTRODUCTION: Statistics helps medical students understand research. Without understanding statistics, students can't choose the proper analysis in their research. We aimed to assess the attitude toward statistics, usage of statical software and associated factors for using statistical analysis software in Sudan. METHOD: A cross-sectional online survey was distributed among undergraduate medical students across ten Sudanese universities. The study aimed to measure their attitude towards statistics using Survey of Attitudes Toward Statistics (SATS-36) scale. RESULTS: In total, 489 students were participated with a mean age of 21.94 ± 1.61 and a slight female preponderance (52%, n = 256). The overall attitude towards statistics was 4.64 ± 0.91. The mean attitude scores for the components of SATS-36 scale was higher for students who were using statistical analysis software demonstrating significant difference in affect (p = 0.002), cognitive competence (p = 0.002), value (p = 0.002), Interest (p = 0.004) and Effort (p = 0.029). Almost half of the students (47%) had attended a biostatistics workshop with only 26% of them reported using statistical analysis software. Of the latter group, 72% (n = 91) used SPSS while 50% (n = 64) used excel. Univariate logistic regression showed students who had previously used an statistical software were more likely to be studying in their sixth year compared with second year (OR: 12.652, CI 95% 4.803- 33.332; p < 0.001), older age (OR: 1.224, CI 95% 1.079- 1.388; p = 0.002), attended a course in research methodology (OR: 3.383, CI 95% 2.120- 5.398; p < 0.001) or biostatistics (OR: 1.886, CI 95% 1.252- 2.841; p = 0.002), initiated or participated in a research project (OR:4.349, CI 95% 2.839 - 6.661;p < 0.001) or published a paper (OR: 8.271, CI 95% 3.542 - 19.312; p < 0.001). CONCLUSIONS: The study showed an average attitude towards statistics among medical students. Being at higher years, participating or publishing research and attending research workshop are associated with the usage of statistical software. Also, few students were using statistical software.
Subject(s)
Students, Medical , Humans , Female , Young Adult , Adult , Students, Medical/psychology , Research Design , Sudan , Cross-Sectional Studies , Attitude , Surveys and QuestionnairesABSTRACT
BACKGROUND: The widespread use of the internet and other digital resources has contributed to the escalation of plagiarism among medical students and students of other healthcare professions. Concerns were raised by faculty at Weill Cornell Medicine-Qatar (WCM-Q), a branch of Weill Cornell Medicine of Cornell University in New York, who had been observing plagiarism in students' assignments. METHODS: To identify the extent of plagiarism practices and their contributing factors, a two-phase mixed-method research study was conducted, comprising a survey administered in 2013, followed by longitudinal interventions, and a second survey in 2017 to measure the impact of the interventions. RESULTS: By Phase II, overall observed plagiarism incidents per year decreased from 44 to 28%, and the number of faculty who observed no plagiarism incidents increased significantly from 12 to 37%. The faculty concerned about student plagiarism decreased by 33% [53.1 to 20%] between Phase I and Phase II. CONCLUSION: When students are provided with information regarding what constitutes plagiarism and their institution's policy in response to plagiarism incidents, they are less likely to engage in such practices.
Subject(s)
Faculty , Plagiarism , Humans , New York , Perception , QatarABSTRACT
BACKGROUND: The aims of Evidence-Based medicine (EBM) are to promote critical thinking and produces better patients' outcome (Profetto-McGrath J, J Prof Nurs Off J Am Assoc Coll Nurs 21:364-371, 2005). Accreditation Council for Graduate Medical Education (ACGME) competencies require trainees to locate, appraise and apply clinical evidence to patients' care. Despite the emphasis that ACGME place on EBM, few organizations provide adequate training in EBM. This is even more critical in regions where medical trainees matriculate from diverse backgrounds of undergraduate medical education, where EBM may not be emphasized nor taught at all. EBM practice has a history of research in the West, however, EBM has not been widely studied in the Middle East. METHODS: Clinicians and trainees at Hamad Medical Corporation (HMC) matriculate from many countries in the Middle East and North Africa (MENA) and Asia. Because trainees in Graduate Medical Education (GME) come to HMC from a variety of geographic backgrounds, it is assumed that they also have a variety of experiences and aptitudes in EBM. To assess trainees EBM attitudes and knowledge in the internal medicine department at HMC in Doha, Qatar, the authors surveyed residents and fellows using a two-part survey. The first part was adapted from the evidence-based practice inventory by Kaper to assess trainees' attitudes and perceptions of EBM. Trainees were also asked to complete the Assessing Competency in Evidence Based Medicine (ACE) tool to evaluate their aptitude in different elements of EBM. The results from the two parts were analyzed. RESULTS: The average score on the ACE tool among the participants was 8.9 (±1.6). Most participants rated themselves as beginners or intermediate in their EBM capabilities. Higher ACE scores were observed from participants with educational background from South Asia, and among those with more favorable attitudes towards EBM. There was no clear pattern that early incorporation of EBM into practice will result in better ACE score. Participants also reported reasonable abilities in EBM tasks and a favorable work atmosphere for EBM implementation. Lack of knowledge, resources, and time were the most reported barriers to utilizing EBM. CONCLUSIONS: While it is clear that participants are enthusiastic about EBM and see it as a useful method for clinical decision making, their aptitude in EBM is not optimal and there are gaps and barriers for them to practice.
Subject(s)
Aptitude , Clinical Competence , Accreditation , Asia , Education, Medical, Graduate , Evidence-Based Medicine/education , Humans , Middle East , QatarABSTRACT
An amendment to this paper has been published and can be accessed via the original article.
ABSTRACT
RATIONALE: Waterpipes, also called hookahs, are currently used by millions of people worldwide. Despite the increasing use of waterpipe smoking, there is limited data on the health effects of waterpipe smoking and there are no federal regulations regarding its use. OBJECTIVES: To assess the effects of waterpipe smoking on the human lung using clinical and biological parameters in young, light-use waterpipe smokers. METHODS: We assessed young, light-use, waterpipe-only smokers in comparison with lifelong nonsmokers using clinical parameters of cough and sputum scores, lung function, and chest high-resolution computed tomography as well as biological parameters of lung epithelial lining fluid metabolome, small airway epithelial (SAE) cell differential and transcriptome, alveolar macrophage transcriptome, and plasma apoptotic endothelial cell microparticles. MEASUREMENTS AND MAIN RESULTS: Compared with nonsmokers, waterpipe smokers had more cough and sputum as well as a lower lung diffusing capacity, abnormal epithelial lining fluid metabolome profile, increased proportions of SAE secretory and intermediate cells, reduced proportions of SAE ciliated and basal cells, markedly abnormal SAE and alveolar macrophage transcriptomes, and elevated levels of apoptotic endothelial cell microparticles. CONCLUSIONS: Young, light-use, waterpipe-only smokers have a variety of abnormalities in multiple lung-related biological and clinical parameters, suggesting that even limited waterpipe use has broad consequences on human lung biology and health. We suggest that large epidemiological studies should be initiated to investigate the harmful effects of waterpipe smoking.
Subject(s)
Lung/pathology , Lung/physiopathology , Pulmonary Diffusing Capacity , Smoking/adverse effects , Tobacco Use Disorder/complications , Transcriptome/drug effects , Adult , Carbon Monoxide/analysis , Carboxyhemoglobin/analysis , Case-Control Studies , Cell-Derived Microparticles/drug effects , Cotinine/urine , Cough/etiology , Cough/microbiology , Epithelial Cells/drug effects , Female , Forced Expiratory Volume/physiology , Humans , Male , Nicotine/urine , Pulmonary Alveoli/cytology , Pulmonary Alveoli/drug effects , Sputum/chemistry , Sputum/drug effects , Thorax/diagnostic imaging , Tomography, X-Ray Computed , Young AdultABSTRACT
OBJECTIVES: Sickle cell disease (SCD) is characterized by chronic inflammation due to ischemic tissue damage, accentuated during acute complications. Fas and its ligand (FasL) are members of tumor necrosis factor receptor superfamily and a major pathway for induction of apoptosis. Fas/FasL interactions may be related to augmentation of inflammatory response. We assessed the levels of sFas and sFasL in 35 children and adolescents with SCD compared with 35 healthy controls in relation to hemolysis, iron overload, sickle vasculopathy including kidney disease. METHODS: SCD patients, in steady state and asymptomatic for pulmonary hypertension, were studied stressing on hydroxyurea therapy, serum ferritin, urinary albumin creatinine ratio (UACR), high-sensitivity C-reactive protein (hs-CRP) and sFas/sFasL levels. RESULTS: sFas/sFasL ratio was significantly higher in patients compared with controls. sFas/sFasL ratio was elevated in patients with pulmonary hypertension, nephropathy and those who had history of frequent sickling crisis or serum ferritin ⩾2500. SCD patients treated with hydroxyurea had lower sFas/sFasL ratio than untreated patients. sFas/sFasL ratio was positively correlated to transfusion index, white blood cells, hs-CRP, serum ferritin and UACR. The cutoff value of sFas/sFasL at 8.75pg/mL could differentiate SCD patients with and without nephropathy while the cutoff value at 22pg/mL could differentiate SCD patients with and without pulmonary hypertension risk with high sensitivity and specificity. CONCLUSION: sFas/sFasL ratio may be considered as a marker for vascular dysfunction in SCD patients and is related to inflammation, iron overload and albuminuria level. Thus, it may be a reliable method to assess renal impairment in SCD.
Subject(s)
Anemia, Sickle Cell/drug therapy , Anemia, Sickle Cell/pathology , Antisickling Agents/therapeutic use , Fas Ligand Protein/metabolism , Hydroxyurea/therapeutic use , fas Receptor/metabolism , Adolescent , Albuminuria/pathology , Apoptosis/physiology , Biomarkers , C-Reactive Protein/metabolism , Case-Control Studies , Child , Child, Preschool , Creatinine/blood , Creatinine/urine , Cross-Sectional Studies , Female , Ferritins/blood , Hemolysis/physiology , Humans , Hypertension, Pulmonary/pathology , Inflammation/immunology , Iron Overload/metabolism , Kidney Diseases/diagnosis , Kidney Diseases/pathology , Male , Treatment OutcomeABSTRACT
The small airway epithelium (SAE), the first site of smoking-induced lung pathology, exhibits genome-wide changes in gene expression in response to cigarette smoking. Based on the increasing evidence that the epigenome can respond to external stimuli in a rapid manner, we assessed the SAE of smokers for genome-wide DNA methylation changes compared with nonsmokers, and whether changes in SAE DNA methylation were linked to the transcriptional output of these cells. Using genome-wide methylation analysis of SAE DNA of nonsmokers and smokers, the data identified 204 unique genes differentially methylated in SAE DNA of smokers compared with nonsmokers, with 67% of the regions with differential methylation occurring within 2 kb of the transcriptional start site. Among the genes with differential methylation were those related to metabolism, transcription, signal transduction and transport. For the differentially methylated genes, 35 exhibited a correlation with gene expression, 54% with an inverse correlation of DNA methylation with gene expression and 46% a direct correlation. These observations provide evidence that cigarette smoking alters the DNA methylation patterning of the SAE and that, for some genes, these changes are associated with the smoking-related changes in gene expression.
Subject(s)
Epigenesis, Genetic , Epithelium/metabolism , Respiratory Mucosa/metabolism , Smoking/genetics , Adult , Case-Control Studies , DNA Methylation/drug effects , Epithelium/drug effects , Female , Gene Expression Profiling , Genome, Human , Genome-Wide Association Study , Humans , Male , Middle Aged , Phenotype , Respiratory Mucosa/drug effects , Smoking/adverse effects , Smoking/metabolism , Transcription Initiation Site , Young AdultABSTRACT
PURPOSE: Early-onset colorectal cancer (EOCRC) is a rising health problem. The incidence of EOCRC has increased over the past 2 decades all over the world. Reports from Egypt since the 1990s have reported a higher incidence among young populations with no identifiable risk factors. The aim of this study was to assess EOCRC in Egypt regarding incidence, characteristics, treatment pattern, and survival compared with average age onset and elderly patients. MATERIALS AND METHODS: This was a retrospective, record-based, cohort study combining data from four different cancer centers in Egypt. We grouped patients according to age into three categories: the EOCRC group for patients age ≤45 years and the average age onset and elderly cancer group (for patients age ≥65 years). RESULTS: The study included 1,310 patients with histopathologically proven colorectal cancer, representing four different geographical areas in Egypt. Patients with EOCRC represented 42.4% of the study population. Female patients were 50.6% among the EOCRC group and 52.5% among the average age group. Rectal tumors were significantly higher in EOCRC (54.7% v 40.6%; P < .001). There was no significant difference between both groups regarding the tumor stage at presentation, obstruction, or presence of metastases at presentation. Patients with EOCRC had a significantly higher rate of peritoneum/adnexa metastases than the average age ones (12.3% in EOCRC v 6.9% in the average age group; P < .001). No statistically significant differences between EOCRC and average age groups in both disease-free survival and overall survival were reported. CONCLUSION: A comprehensive framework for the study of EOCRC is required in Egypt as well as a genomic analysis to identify possible underlying genetic alterations responsible for the high incidence of EOCRC.
Subject(s)
Colorectal Neoplasms , Aged , Humans , Female , Middle Aged , Cohort Studies , Egypt/epidemiology , Retrospective Studies , Disease-Free Survival , Colorectal Neoplasms/epidemiology , Colorectal Neoplasms/therapyABSTRACT
PURPOSE: The principal objective was to investigate the association between periodontal diseases and sickle cell anaemia (SCA). MATERIALS AND METHODS: A group of 59 children with SCA (ages 12 to 16 years) were examined and compared to 54 healthy controls, matched by age and gender. Oral clinical examination included: plaque index (PI), gingival index (GI), probing depth (PD), clinical attachment loss (CAL), presence of calculus and tooth mobility. Clinical severity of SCA and oral hygiene habits were also assessed. RESULTS: There was no statistically significant difference between cases and controls in terms of PI, PD, CAL and tooth mobility at the 5% significance level. However, there was a statistically significant association between GI and SCA (P = 0.002). The mean gingival index of SCA patients was 1.35 ± 0.19 compared to 1.18 ± 0.16 for the controls (P = 0.00001). There was a probability of 76.1% that the GI of SCA patients was greater than the GI of controls. The percentage of teeth with PD = 4 mm was greater in SCA patients compared to controls (2.5% vs 0.6%). Moreover, SCA patients had a higher percentage of teeth with CAL= 3 mm (0.7% vs 0.3%). There was a statistically significant association between having mild, moderate or severe gingival inflammation and the severity of sickle cell anemia (P = 0.028). CONCLUSIONS: The results showed a statistically significantly higher prevalence of inflammed periodontium in children with SCA compared to a similar healthy population.
Subject(s)
Periodontal Diseases , Periodontal Index , Anemia, Sickle Cell , Child , Dental Plaque Index , Humans , Oral Hygiene , Periodontal Attachment LossABSTRACT
BACKGROUND: We investigated the contribution of age, coexisting medical conditions, sex, and vaccination to incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and of severe, critical, or fatal COVID-19 in older adults since pandemic onset. METHODS: A national retrospective cohort study was conducted in the population of Qatar aged ≥50 years between February 5, 2020 and June 15, 2023. Adjusted hazard ratios (AHRs) for infection and for severe coronavirus disease 2019 (COVID-19) outcomes were estimated through Cox regression models. RESULTS: Cumulative incidence was 25.01% (95% confidence interval [CI]: 24.86-25.15%) for infection and 1.59% (95% CI: 1.55-1.64%) for severe, critical, or fatal COVID-19 after a follow-up duration of 40.9 months. Risk of infection varied minimally by age and sex but increased significantly with coexisting conditions. Risk of infection was reduced with primary-series vaccination (AHR: 0.91, 95% CI: 0.90-0.93) and further with first booster vaccination (AHR: 0.75, 95% CI: 0.74-0.77). Risk of severe, critical, or fatal COVID-19 increased exponentially with age and linearly with coexisting conditions. AHRs for severe, critical, or fatal COVID-19 were 0.86 (95% CI: 0.7-0.97) for one dose, 0.15 (95% CI: 0.13-0.17) for primary-series vaccination, and 0.11 (95% CI: 0.08-0.14) for first booster vaccination. Sensitivity analysis restricted to only Qataris yielded similar results. CONCLUSION: Incidence of severe COVID-19 in older adults followed a dynamic pattern shaped by infection incidence, variant severity, and population immunity. Age, sex, and coexisting conditions were strong determinants of infection severity. Vaccine protection against severe outcomes showed a dose-response relationship, highlighting the importance of booster vaccination for older adults.
Subject(s)
COVID-19 , Humans , Aged , COVID-19/epidemiology , COVID-19/prevention & control , SARS-CoV-2 , Cohort Studies , Retrospective Studies , Vaccination , ComorbidityABSTRACT
BACKGROUND: Infection with COVID-19 has serious consequences, which may lead to severe pneumonia and even death. There is a high risk of infection between dental personnel and patients due to working in proximity while performing dental treatments. OBJECTIVE: This study aims to assess the awareness about COVID-19 and its preventive measures among final-year dental students. METHODS: Institutional-based cross-sectional study, among the final-year Bachelor of Dental Surgery students, the sample size was 288 participants during the period from August 8, 2020, to August 15, 2020. The data were collected using a self-administered questionnaire formed of a series of close-ended questions about sociodemographic characteristics, knowledge about COVID-19, prevention in dental clinic, and perception toward COVID-19. Data were analyzed using the Statistical Package for Social Science, version 25 (SPSS 20.0, Chicago, IL). The Chi-square test was used for the significance level, which was set at a value of P = 0.05 or less for all analyses. RESULTS: Form 288 students, the average age (measured in years) was 23.31 ± 1.8. (means ± SD). A total of 224 (77.8%) respondents were females. For COVID-19-related knowledge, 282 (97.9%) students possessed a high knowledge level, 4 (1.4%) had moderate knowledge, and only 2 (0.7%) showed poor knowledge. Also, 95% of participants responded correctly with a total agreement to questions regarding infection control measurements, the least agreement response (85%) was for: avoid aerosol-generating procedures whenever possible. There are statistically significant relations between knowledge score and gender (P = 0.024), knowledge score and source of knowledge (P = 0.017), and perceived severity and knowledge score (P = 0.001). CONCLUSION: This study illustrated that the knowledge score among participants is good. There are associations between gender and level of knowledge, knowledge score and source of knowledge, and perceived severity and knowledge score.
ABSTRACT
PURPOSE: Meaningful participation in research for both faculty and residents is generally viewed to be an essential component of residency training. To better understand best practices in residency research, the authors conducted a survey among Internal Medicine (IM) Residency Programs with experience in research. METHODS: Phone interviews were conducted with a convenience sample of Residency Program Directors (PDs). Survey responses were analyzed across the following domains: size and makeup of the residency and research programs, resources for research, role of the PD/research director (RD), profile of trainees doing research, curriculum description, scope of research, role of mentors, career choices and determinants of success. RESULTS: Fifteen programs were included in the study. Across these programs, approximately two-thirds of residents were involved in research during their training . Eighty percent of the programs required an application for residents to engage in research. Ninety-two percent of the programs had a RD but only 58% had a formal research curriculum. Clinical research projects were the most common types of research. On average, two-thirds of residents involved in research submitted abstracts to regional and/or national meetings. The factor most frequently associated with resident research success was an effective faculty research mentor. CONCLUSIONS: Research success during residency is multifactorial. The authors propose that having a robust structure for research that is led by a residency RD, and the presence of effective mentors and strong administrative support are critical for success.
Subject(s)
Biomedical Research/statistics & numerical data , Internal Medicine/education , Internship and Residency/statistics & numerical data , Practice Guidelines as Topic , Research Design/statistics & numerical data , United StatesABSTRACT
BACKGROUND: Type 2 diabetes (T2D) susceptibility is influenced by genetic and lifestyle factors. To date, the majority of genetic studies of T2D have been in populations of European and Asian descent. The focus of this study is on genetic variations underlying T2D in Qataris, a population with one of the highest incidences of T2D worldwide. RESULTS: Illumina HiSeq exome sequencing was performed on 864 Qatari subjects (574 T2D cases, 290 controls). Sequence kernel association test (SKAT) gene-based analysis identified an association for low frequency potentially deleterious variants in 6 genes. However, these findings were not replicated by SKAT analysis in an independent cohort of 12,699 exomes, primarly due to the absence of low frequency potentially deleterious variants in 5 of the 6 genes. Interestingly one of the genes identified, catenin beta 1 (CTNNB1, ß-catenin), is the key effector of the Wnt pathway and interacts with the nuclear receptor transcription factor 7-like 2 (TCF7L2), variants which are the most strongly associated with risk of developing T2D worldwide. Single variant analysis did not identify any associated variants, suggesting the SKAT association signal was not driven by individual variants. None of the 6 associated genes were among 634 previously described T2D genes. CONCLUSIONS: The observation that genes not previously linked to T2D in prior studies of European and Asian populations are associated with T2D in Qatar provides new insights into the complexity of T2D pathogenesis and emphasizes the importance of understudied populations when assessing genetic variation in the pathogenesis of common disorders.
Subject(s)
Alleles , Diabetes Mellitus, Type 2/genetics , Exome , Transcription Factor 7-Like 2 Protein/genetics , Wnt Signaling Pathway/genetics , beta Catenin/genetics , Female , High-Throughput Nucleotide Sequencing , Humans , Male , Qatar , Risk FactorsABSTRACT
Waterpipe (also called hookah, shisha, or narghile) smoking is a common form of tobacco use in the Middle East. Its use is becoming more prevalent in Western societies, especially among young adults as an alternative form of tobacco use to traditional cigarettes. While the risk to cigarette smoking is well documented, the risk to waterpipe smoking is not well defined with limited information on its health impact at the epidemiologic, clinical and biologic levels with respect to lung disease. Based on the knowledge that airway epithelial cell DNA methylation is modified in response to cigarette smoke and in cigarette smoking-related lung diseases, we assessed the impact of light-use waterpipe smoking on DNA methylation of the small airway epithelium (SAE) and whether changes in methylation were linked to the transcriptional output of the cells. Small airway epithelium was obtained from 7 nonsmokers and 7 light-use (2.6 ± 1.7 sessions/wk) waterpipe-only smokers. Genome-wide comparison of SAE DNA methylation of waterpipe smokers to nonsmokers identified 727 probesets differentially methylated (fold-change >1.5, p<0.05) representing 673 unique genes. Dominant pathways associated with these epigenetic changes include those linked to G-protein coupled receptor signaling, aryl hydrocarbon receptor signaling and xenobiotic metabolism signaling, all of which have been associated with cigarette smoking and lung disease. Of the genes differentially methylated, 11.3% exhibited a corresponding significant (p<0.05) change in gene expression with enrichment in pathways related to regulation of mRNA translation and protein synthesis (eIF2 signaling and regulation of eIF4 and p70S6K signaling). Overall, these data demonstrate that light-use waterpipe smoking is associated with epigenetic changes and related transcriptional modifications in the SAE, the cell population demonstrating the earliest pathologic abnormalities associated with chronic cigarette smoking.
Subject(s)
Epigenesis, Genetic , Epithelium/metabolism , Smoking , Adult , Bronchi/metabolism , DNA/genetics , DNA/isolation & purification , DNA/metabolism , DNA Methylation , Down-Regulation , Female , Genome, Human , Humans , Male , RNA/genetics , RNA/isolation & purification , RNA/metabolism , Receptors, Aryl Hydrocarbon/metabolism , Receptors, G-Protein-Coupled/genetics , Receptors, G-Protein-Coupled/metabolism , Up-RegulationABSTRACT
The Qatari population, located at the Arabian migration crossroads of African and Eurasia, is comprised of Bedouin, Persian and African genetic subgroups. By deep exome sequencing of only 7 Qataris, including individuals in each subgroup, we identified 2,750 nonsynonymous SNPs predicted to be deleterious, many of which are linked to human health, or are in genes linked to human health. Many of these SNPs were at significantly elevated deleterious allele frequency in Qataris compared to other populations worldwide. Despite the small sample size, SNP allele frequency was highly correlated with a larger Qatari sample. Together, the data demonstrate that exome sequencing of only a small number of individuals can reveal genetic variations with potential health consequences in understudied populations.
Subject(s)
Exome/genetics , Genetics, Population , Polymorphism, Single Nucleotide/genetics , Sequence Analysis, DNA/methods , Chromosomes, Human/genetics , Gene Frequency/genetics , Genome, Human/genetics , Health , Humans , Mutation, Missense/genetics , Oligonucleotide Array Sequence Analysis , Principal Component Analysis , Qatar , Reproducibility of ResultsABSTRACT
BabelMeSH is a multilanguage search for MEDLINE/PubMed. We created a database of Arabic translations of MeSH terms and other medical terms using MySQL and developed a Web interface for searching MEDLINE/PubMed in Arabic. We evaluated the accuracy of BabelMeSH using a list of medical terms from BMJ Clinical Evidence. The accuracy was 58% (machine scoring) and 65% human review.) The result obtained may be explained by variations in expressing medical terms in Arabic.