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1.
Sci Rep ; 13(1): 21866, 2023 12 10.
Artículo en Inglés | MEDLINE | ID: mdl-38072966

RESUMEN

Genome-wide association studies (GWAS) have yielded significant insights into the genetic architecture of myocardial infarction (MI), although studies in non-European populations are still lacking. Saudi Arabian cohorts offer an opportunity to discover novel genetic variants impacting disease risk due to a high rate of consanguinity. Genome-wide genotyping (GWG), imputation and GWAS followed by meta-analysis were performed based on two independent Saudi Arabian studies comprising 3950 MI patients and 2324 non-MI controls. Meta-analyses were then performed with these two Saudi MI studies and the CardioGRAMplusC4D and UK BioBank GWAS as controls. Meta-analyses of the two Saudi MI studies resulted in 17 SNPs with genome-wide significance. Meta-analyses of all 4 studies revealed 66 loci with genome-wide significance levels of p < 5 × 10-8. All of these variants, except rs2764203, have previously been reported as MI-associated loci or to have high linkage disequilibrium with known loci. One SNP association in Shisa family member 5 (SHISA5) (rs11707229) was evident at a much higher frequency in the Saudi MI populations (> 12% MAF). In conclusion, our results replicated many MI associations, whereas in Saudi-only GWAS (meta-analyses), several new loci were implicated that require future validation and functional analyses.


Asunto(s)
Estudio de Asociación del Genoma Completo , Infarto del Miocardio , Humanos , Estudio de Asociación del Genoma Completo/métodos , Arabia Saudita , Genotipo , Infarto del Miocardio/genética , Polimorfismo de Nucleótido Simple , Predisposición Genética a la Enfermedad
2.
BMC Microbiol ; 22(1): 301, 2022 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-36510121

RESUMEN

BACKGROUND: Large-scale gut microbiome sequencing has revealed key links between microbiome dysfunction and metabolic diseases such as type 2 diabetes (T2D). To date, these efforts have largely focused on Western populations, with few studies assessing T2D microbiota associations in Middle Eastern communities where T2D prevalence is now over 20%. We analyzed the composition of stool 16S rRNA from 461 T2D and 119 non-T2D participants from the Eastern Province of Saudi Arabia. We quantified the abundance of microbial communities to examine any significant differences between subpopulations of samples based on diabetes status and glucose level. RESULTS: In this study we performed the largest microbiome study ever conducted in Saudi Arabia, as well as the first-ever characterization of gut microbiota T2D versus non-T2D in this population. We observed overall positive enrichment within diabetics compared to healthy individuals and amongst diabetic participants; those with high glucose levels exhibited slightly more positive enrichment compared to those at lower risk of fasting hyperglycemia. In particular, the genus Firmicutes was upregulated in diabetic individuals compared to non-diabetic individuals, and T2D was associated with an elevated Firmicutes/Bacteroidetes ratio, consistent with previous findings. CONCLUSION: Based on diabetes status and glucose levels of Saudi participants, relatively stable differences in stool composition were perceived by differential abundance and alpha diversity measures. However, community level differences are evident in the Saudi population between T2D and non-T2D individuals, and diversity patterns appear to vary from well-characterized microbiota from Western cohorts. Comparing overlapping and varying patterns in gut microbiota with other studies is critical to assessing novel treatment options in light of a rapidly growing T2D health epidemic in the region. As a rapidly emerging chronic condition in Saudi Arabia and the Middle East, T2D burdens have grown more quickly and affect larger proportions of the population than any other global region, making a regional reference T2D-microbiome dataset critical to understanding the nuances of disease development on a global scale.


Asunto(s)
Diabetes Mellitus Tipo 2 , Microbioma Gastrointestinal , Microbiota , Humanos , ARN Ribosómico 16S/genética , Microbioma Gastrointestinal/genética , Glucosa
4.
Int J Cardiol ; 343: 15-20, 2021 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-34506827

RESUMEN

BACKGROUND: ST-segment elevation myocardial infarction (STEMI) patients are treated with dual antiplatelet therapy comprising aspirin and a P2Y12 inhibitor. Clopidogrel is widely used in these patients in several areas worldwide, such as Middle East, but is associated to sub-optimal platelet inhibition in up to 1/3 of treated patients. We investigated a CYP2C19 genotype-guided strategy to select the optimal P2Y12 inhibitor. METHODS: This prospective randomized clinical trial included STEMI patients. The standard-treatment group received clopidogrel, while the genotype-guided group were genotyped for CYP2C19 loss-of-function alleles and carriers were prescribed ticagrelor and noncarriers were prescribed clopidogrel. Primary outcome was a combined ischemic and bleeding outcome, comprising myocardial infarction, non-fatal stroke, cardiovascular death, or Platelet Inhibition and Patient Outcomes major bleeding one year after STEMI. RESULTS: STEMI patients (755) were randomized into a genotype-guided- (383) and standard-treatment group (372). In the genotype-guided group, 31 patients carrying a loss-of-function allele were treated with ticagrelor, while all other patients in both groups were treated with clopidogrel. Patients in the genotype-guided group had a significantly lower risk of primary outcome (odds ratio (OR) 0.34, 95% confidence interval (CI) 0.20-0.59,), recurrent myocardial infarction (OR 0.25, 95%CI 0.11-0.53), cardiovascular death (OR 0.16, 95%CI0.06-0.42) and major bleeding (OR 0.49, 95%CI 0.32-0.74). There was no significant difference in the rate of stent thrombosis (OR 0.85, 95%CI 0.43-1.71). CONCLUSION: A genotype-guided escalation of P2Y12 inhibitor strategy is feasible in STEMI patients treated with clopidogrel and undergoing PCI and is associated with a reduction of primary outcomes compared to conventional antiplatelet therapy.


Asunto(s)
Infarto del Miocardio , Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Clopidogrel , Citocromo P-450 CYP2C19/genética , Humanos , Infarto del Miocardio/diagnóstico , Infarto del Miocardio/tratamiento farmacológico , Infarto del Miocardio/genética , Inhibidores de Agregación Plaquetaria , Pruebas en el Punto de Atención , Estudios Prospectivos , Infarto del Miocardio con Elevación del ST/diagnóstico , Infarto del Miocardio con Elevación del ST/tratamiento farmacológico , Infarto del Miocardio con Elevación del ST/genética , Resultado del Tratamiento
5.
Drug Metab Pers Ther ; 2021 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-34237806

RESUMEN

OBJECTIVES: To mitigate the incidence of recurrent stroke in patients, dual antiplatelet therapy comprising aspirin and clopidogrel is usually administered. Clopidogrel is a prodrug and its bioactivation is catalyzed by cytochrome P450 (CYP)2C19. The main objective of this work was to determine the prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and assess the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup. METHODS: This prospective (2018-2019) study was conducted on 256 patients (age 61 ± 12.5) clinically diagnosed with ischemic stroke who were genotyped using Spartan RX CYP2C19 assay. RESULTS: From the total patient group (256), upon admission, 210 patients were prescribed either aspirin, clopidogrel or dual antiplatelet therapy. Of the 27 patients with the CYP2C19*2 allele who were prescribed clopidogrel (18) or dual antiplatelet therapy (9), only 21 patients could be followed up for a period of six months post stroke event, in addition to 21 age- and sex-matched patients with the normal allele. The CYP2C19*2 allele carriers had a statistically significant increased risk of recurrent stroke compared to patients carrying the normal allele. CONCLUSIONS: This study shows the suitability of using genotyping to guide antiplatelet therapy in ischemic stroke patients in a clinical setting.

6.
Genet Med ; 23(5): 918-926, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33531667

RESUMEN

PURPOSE: Cohort-based germline variant characterization is the standard approach for pathogenic variant discovery in clinical and research samples. However, the impact of cohort size on the molecular diagnostic yield of joint genotyping is largely unknown. METHODS: Head-to-head comparison of the molecular diagnostic yield of joint genotyping in two cohorts of 239 cancer patients in the absence and then in the presence of 100 additional germline exomes. RESULTS: In 239 testicular cancer patients, 4 (7.4%, 95% confidence interval [CI]: 2.1-17.9) of 54 pathogenic variants in the cancer predisposition and American College of Medical Genetics and Genomics (ACMG) genes were missed by one or both computational runs of joint genotyping. Similarly, 8 (12.1%, 95% CI: 5.4-22.5) of 66 pathogenic variants in these genes were undetected by joint genotyping in another independent cohort of 239 breast cancer patients. An exome-wide analysis of putative loss-of-function (pLOF) variants in the testicular cancer cohort showed that 162 (8.2%, 95% CI: 7.1-9.6) pLOF variants were only detected in one analysis run but not the other, while 433 (22.0%, 95% CI: 20.2-23.9%) pLOF variants were filtered out by both analyses despite having sufficient sequencing coverage. CONCLUSION: Our analysis of the standard germline variant detection method highlighted a substantial impact of concurrently analyzing additional genomic data sets on the ability to detect clinically relevant germline pathogenic variants.


Asunto(s)
Neoplasias Testiculares , Predisposición Genética a la Enfermedad , Genómica , Genotipo , Células Germinativas , Humanos , Masculino , Patología Molecular
7.
Drug Metab Pers Ther ; 37(1): 35-40, 2021 07 08.
Artículo en Inglés | MEDLINE | ID: mdl-35385889

RESUMEN

OBJECTIVES: To mitigate the incidence of recurrent stroke in patients, dual antiplatelet therapy comprising aspirin and clopidogrel is usually administered. Clopidogrel is a prodrug and its bioactivation is catalyzed by cytochrome P450 (CYP)2C19. The main objective of this work was to determine the prevalence of CYP2C19*2 carriers in Saudi ischemic stroke patients and assess the suitability of using genotyping to guide antiplatelet therapy in a university hospital setup. METHODS: This prospective (2018-2019) study was conducted on 256 patients (age 61 ± 12.5) clinically diagnosed with ischemic stroke who were genotyped using Spartan RX CYP2C19 assay. RESULTS: From the total patient group (256), upon admission, 210 patients were prescribed either aspirin, clopidogrel or dual antiplatelet therapy. Of the 27 patients with the CYP2C19*2 allele who were prescribed clopidogrel (18) or dual antiplatelet therapy (9), only 21 patients could be followed up for a period of six months post stroke event, in addition to 21 age- and sex-matched patients with the normal allele. The CYP2C19*2 allele carriers had a statistically significant increased risk of recurrent stroke compared to patients carrying the normal allele. CONCLUSIONS: This study shows the suitability of using genotyping to guide antiplatelet therapy in ischemic stroke patients in a clinical setting.


Asunto(s)
Citocromo P-450 CYP2C19 , Accidente Cerebrovascular Isquémico , Inhibidores de Agregación Plaquetaria , Anciano , Aspirina/uso terapéutico , Clopidogrel/uso terapéutico , Citocromo P-450 CYP2C19/genética , Genotipo , Hospitales , Humanos , Accidente Cerebrovascular Isquémico/tratamiento farmacológico , Accidente Cerebrovascular Isquémico/genética , Persona de Mediana Edad , Inhibidores de Agregación Plaquetaria/uso terapéutico , Prevalencia , Estudios Prospectivos , Arabia Saudita/epidemiología
8.
JAMA ; 324(19): 1957-1969, 2020 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-33201204

RESUMEN

Importance: Less than 10% of patients with cancer have detectable pathogenic germline alterations, which may be partially due to incomplete pathogenic variant detection. Objective: To evaluate if deep learning approaches identify more germline pathogenic variants in patients with cancer. Design, Setting, and Participants: A cross-sectional study of a standard germline detection method and a deep learning method in 2 convenience cohorts with prostate cancer and melanoma enrolled in the US and Europe between 2010 and 2017. The final date of clinical data collection was December 2017. Exposures: Germline variant detection using standard or deep learning methods. Main Outcomes and Measures: The primary outcomes included pathogenic variant detection performance in 118 cancer-predisposition genes estimated as sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). The secondary outcomes were pathogenic variant detection performance in 59 genes deemed actionable by the American College of Medical Genetics and Genomics (ACMG) and 5197 clinically relevant mendelian genes. True sensitivity and true specificity could not be calculated due to lack of a criterion reference standard, but were estimated as the proportion of true-positive variants and true-negative variants, respectively, identified by each method in a reference variant set that consisted of all variants judged to be valid from either approach. Results: The prostate cancer cohort included 1072 men (mean [SD] age at diagnosis, 63.7 [7.9] years; 857 [79.9%] with European ancestry) and the melanoma cohort included 1295 patients (mean [SD] age at diagnosis, 59.8 [15.6] years; 488 [37.7%] women; 1060 [81.9%] with European ancestry). The deep learning method identified more patients with pathogenic variants in cancer-predisposition genes than the standard method (prostate cancer: 198 vs 182; melanoma: 93 vs 74); sensitivity (prostate cancer: 94.7% vs 87.1% [difference, 7.6%; 95% CI, 2.2% to 13.1%]; melanoma: 74.4% vs 59.2% [difference, 15.2%; 95% CI, 3.7% to 26.7%]), specificity (prostate cancer: 64.0% vs 36.0% [difference, 28.0%; 95% CI, 1.4% to 54.6%]; melanoma: 63.4% vs 36.6% [difference, 26.8%; 95% CI, 17.6% to 35.9%]), PPV (prostate cancer: 95.7% vs 91.9% [difference, 3.8%; 95% CI, -1.0% to 8.4%]; melanoma: 54.4% vs 35.4% [difference, 19.0%; 95% CI, 9.1% to 28.9%]), and NPV (prostate cancer: 59.3% vs 25.0% [difference, 34.3%; 95% CI, 10.9% to 57.6%]; melanoma: 80.8% vs 60.5% [difference, 20.3%; 95% CI, 10.0% to 30.7%]). For the ACMG genes, the sensitivity of the 2 methods was not significantly different in the prostate cancer cohort (94.9% vs 90.6% [difference, 4.3%; 95% CI, -2.3% to 10.9%]), but the deep learning method had a higher sensitivity in the melanoma cohort (71.6% vs 53.7% [difference, 17.9%; 95% CI, 1.82% to 34.0%]). The deep learning method had higher sensitivity in the mendelian genes (prostate cancer: 99.7% vs 95.1% [difference, 4.6%; 95% CI, 3.0% to 6.3%]; melanoma: 91.7% vs 86.2% [difference, 5.5%; 95% CI, 2.2% to 8.8%]). Conclusions and Relevance: Among a convenience sample of 2 independent cohorts of patients with prostate cancer and melanoma, germline genetic testing using deep learning, compared with the current standard genetic testing method, was associated with higher sensitivity and specificity for detection of pathogenic variants. Further research is needed to understand the relevance of these findings with regard to clinical outcomes.


Asunto(s)
Análisis Mutacional de ADN/métodos , Aprendizaje Profundo , Pruebas Genéticas/métodos , Mutación de Línea Germinal , Melanoma/genética , Neoplasias de la Próstata/genética , Estudios Transversales , Femenino , Predisposición Genética a la Enfermedad , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Masculino , Persona de Mediana Edad , Redes Neurales de la Computación , Valor Predictivo de las Pruebas , Sensibilidad y Especificidad
9.
BMC Cardiovasc Disord ; 20(1): 268, 2020 06 03.
Artículo en Inglés | MEDLINE | ID: mdl-32493215

RESUMEN

BACKGROUND: To mitigate the risk of stent thrombosis, patients treated by percutaneous coronary intervention (PCI) are administered dual anti-platelet therapy comprising aspirin and a platelet P2Y12 receptor inhibitor. Clopidogrel is a prodrug requiring activation by the cytochrome P450 enzyme, CYP2C19. In Saudi Arabia, it has been reported that approximately 26% of the population carries CYP2C19*2 and/or *3 loss-of-function polymorphisms in addition to a high prevalence of CVD. METHODS: This prospective (April 2013-December 2020) parallel assignment clinical trial focuses on ST-Elevation Myocardial Infarction (STEMI) patient outcomes. The clinical trial includes 1500 STEMI patients from two hospitals in the Eastern Province of Saudi Arabia. Patients are assigned to one of two groups; the control arm receives conventional therapy with clopidogrel, while in the active arm the Spartan RX CYP2C19 assay is used to determine the *2 genotype. Carriers of a CYP2C19*2 loss-of-function allele receive prasugrel or ticagrelor, while non-carriers are treated with clopidogrel. Follow-up is one year after primary PCI. The primary end point is the number of patients who develop an adverse major cardiovascular event, including recurrent MI, non-fatal stroke, cardiovascular death, or major bleeding one year after PCI. DISCUSSION: The risk of stent thrombosis in PCI patients is usually reduced by dual anti-platelet therapy, comprising aspirin and a P2Y12 inhibitor, such as clopidogrel. However, clopidogrel requires activation by the cytochrome P450 enzyme, CYP2C19. Approximately 20% of the population are unable to activate clopidogrel as they possess the CYP2C19*2 loss-of function (LoF) allele. The primary goal of this trial is to study the benefits of treating only those patients that cannot activate clopidogrel with an alternative that has shown to be a more effective platelet inhibitor and does not require bioactivation by the cytochrome P450 enzyme. We expect an improvement in net clinical benefit outcome in the active arm patients, thus supporting pharmacogenetic testing in PCI patients post STEMI. TRIAL REGISTRATION: Trial registration name is "Bedside Testing of CYP2C19 Gene for Treatment of Patients with PCI with Antiplatelet Therapy" (number NCT01823185) retrospectively registered with clinicaltrials.gov on April 4, 2013. This trial is currently at the patient recruitment stage.


Asunto(s)
Trombosis Coronaria/prevención & control , Citocromo P-450 CYP2C19/genética , Intervención Coronaria Percutánea , Pruebas de Farmacogenómica , Variantes Farmacogenómicas , Inhibidores de Agregación Plaquetaria/administración & dosificación , Pruebas en el Punto de Atención , Polimorfismo Genético , Infarto del Miocardio con Elevación del ST/terapia , Toma de Decisiones Clínicas , Clopidogrel/administración & dosificación , Trombosis Coronaria/etiología , Humanos , Estudios Multicéntricos como Asunto , Selección de Paciente , Intervención Coronaria Percutánea/efectos adversos , Intervención Coronaria Percutánea/instrumentación , Inhibidores de Agregación Plaquetaria/efectos adversos , Clorhidrato de Prasugrel/administración & dosificación , Valor Predictivo de las Pruebas , Estudios Prospectivos , Ensayos Clínicos Controlados Aleatorios como Asunto , Infarto del Miocardio con Elevación del ST/diagnóstico , Infarto del Miocardio con Elevación del ST/genética , Arabia Saudita , Stents , Ticagrelor/administración & dosificación , Resultado del Tratamiento
10.
Ren Fail ; 41(1): 842-849, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31488014

RESUMEN

Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation. Of the CRISP patients with a genetic cause detected, mutations in PKD1 accounted for 85%, while mutations in the PKD2 accounted for the remaining 15%. Here, we report exome sequencing of 16 Saudi patients diagnosed with ADPKD and 16 ethnically matched controls. Methods: Exome sequencing was performed using combinatorial probe-anchor synthesis and improved DNA Nanoballs technology on BGISEQ-500 sequencers (BGI, China) using the BGI Exome V4 (59 Mb) Kit. Identified variants were validated with Sanger sequencing. Results: With the exception of GC-rich exon 1, we obtained excellent coverage of PKD1 (mean read depth = 88) including both duplicated and non-duplicated regions. Of nine patients with typical ADPKD presentations (bilateral symmetrical kidney involvement, positive family history, concordant imaging, and kidney function), four had protein truncating PKD1 mutations, one had a PKD1 missense mutation, and one had a PKD2 mutation. These variants have not been previously observed in the Saudi population. In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2. Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD. Abbreviations: ADPKD: Autosomal dominant polycystic kidney disease; CFTR: Cystic fibrosis transmembrane conductance regulator; EGF: Epidermal growth factor; MCIC: Mayo Clinic Imaging Classification; PKD: Polycystic kidney disease; TSC2: Tuberous sclerosis complex 2.


Asunto(s)
Riñón Poliquístico Autosómico Dominante/genética , Adulto , Anciano , Árabes/genética , Canales de Calcio/genética , Estudios de Casos y Controles , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Análisis Mutacional de ADN , Factor de Crecimiento Epidérmico/genética , Exones/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense , Riñón Poliquístico Autosómico Dominante/diagnóstico por imagen , Receptores de Superficie Celular/genética , Arabia Saudita , Canales Catiónicos TRPP/genética , Tomografía Computarizada por Rayos X , Proteína 2 del Complejo de la Esclerosis Tuberosa/genética , Secuenciación del Exoma
12.
Genome Med ; 7: 90, 2015 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-26423053

RESUMEN

BACKGROUND: In addition to HLA genetic incompatibility, non-HLA difference between donor and recipients of transplantation leading to allograft rejection are now becoming evident. We aimed to create a unique genome-wide platform to facilitate genomic research studies in transplant-related studies. We designed a genome-wide genotyping tool based on the most recent human genomic reference datasets, and included customization for known and potentially relevant metabolic and pharmacological loci relevant to transplantation. METHODS: We describe here the design and implementation of a customized genome-wide genotyping array, the 'TxArray', comprising approximately 782,000 markers with tailored content for deeper capture of variants across HLA, KIR, pharmacogenomic, and metabolic loci important in transplantation. To test concordance and genotyping quality, we genotyped 85 HapMap samples on the array, including eight trios. RESULTS: We show low Mendelian error rates and high concordance rates for HapMap samples (average parent-parent-child heritability of 0.997, and concordance of 0.996). We performed genotype imputation across autosomal regions, masking directly genotyped SNPs to assess imputation accuracy and report an accuracy of >0.962 for directly genotyped SNPs. We demonstrate much higher capture of the natural killer cell immunoglobulin-like receptor (KIR) region versus comparable platforms. Overall, we show that the genotyping quality and coverage of the TxArray is very high when compared to reference samples and to other genome-wide genotyping platforms. CONCLUSIONS: We have designed a comprehensive genome-wide genotyping tool which enables accurate association testing and imputation of ungenotyped SNPs, facilitating powerful and cost-effective large-scale genotyping of transplant-related studies.


Asunto(s)
Estudio de Asociación del Genoma Completo , Genotipo , Variaciones en el Número de Copia de ADN , Antígenos HLA/genética , Humanos , Polimorfismo de Nucleótido Simple , Receptores KIR/genética
13.
Emerg Infect Dis ; 19(12): 2034-6, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24274664

RESUMEN

We used a lentiviral vector bearing the viral spike protein to detect neutralizing antibodies against Middle East respiratory syndrome coronavirus (MERS-CoV) in persons from the Eastern Province of Saudi Arabia. None of the 268 samples tested displayed neutralizing activity, which suggests that MERS-CoV infections in humans are infrequent in this province.


Asunto(s)
Anticuerpos Neutralizantes/inmunología , Anticuerpos Antivirales/inmunología , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/inmunología , Coronavirus/inmunología , Adulto , Anticuerpos Neutralizantes/sangre , Anticuerpos Antivirales/sangre , Infecciones por Coronavirus/transmisión , Femenino , Humanos , Masculino , Persona de Mediana Edad , Arabia Saudita/epidemiología , Estudios Seroepidemiológicos , Adulto Joven
14.
J Family Community Med ; 18(1): 1-7, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21694952

RESUMEN

BACKGROUND: Colleges and universities are becoming increasingly accountable for teaching outcomes in order to meet rigorous accreditation standards. Job satisfaction (JS) seems more difficult to measure in the academic field in view of the complexity of roles, duties and responsibilities. OBJECTIVES: To compile and determine the psychometric properties of a proposed Academic Job Satisfaction Questionnaire (AJSQ) suitable for university faculty, and amenable to future upgrading. MATERIALS AND METHODS: A 46-item five-option Likert-type draft questionnaire on JS was distributed for anonymous self-reporting by all the academic staff of five colleges in University of Dammam (n=340). The outcome measures were (1) factor analysis of the questionnaire items, (2) intra-factor α-Coefficient of Internal Consistency Reliability, (3) inter-factor correlations, (4) comparison of psychometric properties in separately analyzed main faculty subgroups. RESULTS: The response rate was 72.9 percent. Factor analysis extracted eight factors which conjointly explained 60.3 percent of the variance in JS. These factors, in descending order of eigenvalue, were labeled "Authority", "Supervision", "Policies and Facilities", "My Work Itself", "Interpersonal Relationships", "Commitment", "Salary" and "Workload". Cronbach's-α ranged from 0.90 in Supervision to 0.63 in Salary and Workload. All inter-factor correlations were positive and significant, ranging from 0.65 to 0.23. The psychometric properties of the instrument in separately analyzed subgroups divided by sex, nationality, college and clinical duties produced fairly comparable findings. CONCLUSION: The AJSQ demonstrated good overall psychometric properties in terms of construct validity and internal consistency reliability in both the overall sample and its separately analyzed subgroups. RECOMMENDATION: To replicate these findings in larger multicenter samples of academic staff.

15.
Ann Thorac Med ; 6(2): 66-9, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21572694

RESUMEN

BACKGROUND AND OBJECTIVES: Two polymorphisms of beta(2)-adrenergic receptor (ß(2)-AR) gene, namely the substitution from arginine (Arg) to glycine (Gly) at codon 16 and from glutamine (Gln) to glutamic (Glu) at codon 27, are linked with functional changes in the ß(2)-AR in the respiratory system even though they are not deemed to be susceptibility genes for asthma per se. The objective of this study was to investigate this association in a subset of asthmatic patients, namely those with nocturnal asthma. METHODS: The ß(2)-AR gene polymorphisms at codon 16 and 27 were assessed in 40 patients clinically diagnosed with nocturnal asthma and 96 normal controls. Genomic DNA was obtained from whole blood and genotyping was carried out by a PCR based restriction fragment length polymorphism technique. RESULTS: There was a statistically significant difference in genotype frequencies at codon 16 (Arg/Gly) between nocturnal asthmatic patients and normal control subjects (P < 0.05). However, there was no statistically significant difference in allele frequencies between the two groups. In addition, there was a significant association between Arg16-Gly genotype with nocturnal asthma compared to homozygous Gly16 (codominant model P = 0.0033, OR = 3.69: 95% CI: 1.49-9.12). However, there were no statistically significant differences in genotype and allele frequencies at codon 27 (Gln/Glu) between the normal control and nocturnal asthmatic groups (χ(2) = 1.81, P = 0.41). The results also indicate that linkage disequilibrium existed between the ß(2)-AR codon 16 and ß(2)-AR codon 27 polymorphism (|D´| = 0.577). The data for all haplotypes did not show a statistically significant association. CONCLUSION: We present the genotype and allele frequencies of ß(2)-AR gene polymorphisms in normal Saudi subjects and nocturnal asthmatic patients. There was a significant difference in genotype frequencies at codon 16 (Arg/Gly). However, our study indicates a poor association of individual single nuceotide polymorphisms with nocturnal asthma.

16.
Med Teach ; 33(10): 840-5, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21355690

RESUMEN

BACKGROUND: Professionalism has emerged as a core competency for the medical professionals globally. However, few studies have been reported from the Gulf region to assess the situation and take steps to promote professionalism. AIM: To elicit the views of final year medical students, interns, and residents to explore what professionalism meant to them, what problems they encountered, and what can be done to promote professionalism. METHOD: We adopted qualitative approach including 10 focus group discussions. The proceedings were tape-recorded, transcribed, and analyzed independently by two researchers. RESULTS: The respondents admitted that that they were deficient in the acquisition of professional values. According to them, professionalism was not taught or assessed. They followed "hidden curriculum". They considered very few teachers as positive role models. The deficiencies could be attributed to negative role modeling by the faculty or deficiencies in the curriculum such as lack of rich clinical experiences, limited interaction with health team, and absence of feedback besides organizational issues. CONCLUSION: The students' views should be tallied with other sources of evidences. Nevertheless, they have policy implications on faculty recruitment, development, curriculum reform, and an organizational culture that supports professionalism.


Asunto(s)
Actitud del Personal de Salud , Curriculum , Educación Médica/métodos , Rol del Médico/psicología , Percepción Social , Estudiantes de Medicina/psicología , Competencia Clínica , Comunicación , Femenino , Grupos Focales , Conocimientos, Actitudes y Práctica en Salud , Humanos , Masculino , Relaciones Médico-Paciente , Investigación Cualitativa , Arabia Saudita , Facultades de Medicina
17.
J Family Community Med ; 17(1): 1-2, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22022663
18.
J Family Community Med ; 17(2): 91-5, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-21359032

RESUMEN

BACKGROUND: The National Commission for Academic Accreditation and Assessment is responsible for the academic accreditation of universities in the Kingdom of Saudi Arabia (KSA). Requirements for this include evaluation of teaching effectiveness, evidence-based conclusions, and external benchmarks. AIMS: To develop a questionnaire for students' evaluation of the teaching skills of individual instructors and provide a tool for benchmarking. SETTING: College of Nursing, University of Dammam [UoD], May-June 2009. MATERIALS AND METHODS: The original questionnaire was "Monash Questionnaire Series on Teaching (MonQueST) - Clinical Nursing. The UoD modification retained four areas and seven responses, but reduced items from 26 to 20. Outcome measures were factor analysis and Cronbach's alpha coefficient. RESULTS: Seven Nursing courses were studied, viz.: Fundamentals, Medical, Surgical, Psychiatric and Mental Health, Obstetrics and Gynecology, Pediatrics, and Family and Community Health. Total number of students was 74; missing data ranged from 5 to 27%. The explained variance ranged from 66.9% to 78.7%. The observed Cornbach's α coefficients ranged from 0.78 to 0.93, indicating an exceptionally high reliability. The students in the study were found to be fair and frank in their evaluation.

19.
Artículo en Inglés | MEDLINE | ID: mdl-19842412

RESUMEN

This study was carried out to analyze the clinical presentations and outcomes of osteoarticular tuberculosis (OAT) at a university hospital in AlKhobar, Saudi Arabia. A prospective observational study was carried out between 1 January 1998 and 31 December 2007. Patients demographic characteristics were recorded, including age, gender, nationality, clinical manifestation, delay in diagnosis, laboratory results, findings on imaging studies, histological and bacteriological studies of biopsy specimens, treatment modalities, surgical interventions and final outcomes. Fifty-two patients were diagnosed with OAT during the study period. The majority were males (64%), about half were below age 30 years. The mean age at diagnosis was 33 years. There were 32 Saudis (64%), and 18 non-Saudis (36%). Pyrexia, loss of appetite and night sweats were the presenting symptoms in 44, 38 and 36%, respectively. The average time from onset of symptoms to diagnosis was 185 days (7-730 days). On admission, the average erythrocyte sedimentation rate (ESR) was 68 mm/h (4-142). A Mantoux test was performed, in 48 patients the results were positive. The vertebral column was the site of infection in 88% of patients. All patients were managed with standard antituberculous therapy. Forty-two patients (84%) had a favorable outcome.


Asunto(s)
Tuberculosis Osteoarticular/diagnóstico , Adolescente , Adulto , Anciano , Sedimentación Sanguínea , Femenino , Fiebre/etiología , Humanos , Masculino , Persona de Mediana Edad , Paraplejía/etiología , Cuadriplejía/etiología , Arabia Saudita , Sudoración , Factores de Tiempo , Prueba de Tuberculina , Tuberculosis Osteoarticular/complicaciones , Adulto Joven
20.
J Family Community Med ; 16(3): 97-103, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23012199

RESUMEN

BACKGROUND: Job satisfaction is a major determinant of job performance, manpower retention and employee well-being. OBJECTIVES: To explore the state of job satisfaction among the academic staff of King Faisal University - Dammam (KFU-D), and detect the areas and groups at a higher risk of being dissatisfied. METHOD: A fully-structured 5-option Likert-type Job Satisfaction Questionnaire (JSQ) composed of an evaluative item and eleven domains making a total of 46 items was used. It was distributed by internal mail to all the 340 academic staff, 248 of whom returned completed questionnaires (response rate = 72.9 %). FINDINGS: The overall mean Job Satisfaction Rate (JSR) was 73.6 %. The highest JSR's were found in three domains ("Supervision", "Responsibility", and "Interpersonal Relationships"), and the lowest in four others ("Salary", "My Work Itself", "Working Conditions", and "Advancement"). The JSR was significantly lower among Saudi nationals, females, those below age 40, those from clinical medical and Dentistry departments. Multiple Regression identified six independent variables which conjointly explained 25 % of the variance in job satisfaction (p < 0.0001). These were: being an expatriate, above the age of 50, serving the university for less than one or more than ten years, and, not from a clinical department of Medicine or Dentistry. CONCLUSIONS: Most staff were satisfied with many aspects of their jobs, but there was significant dissatisfaction with several job-related aspects and demographic features. Appropriate interventions are indicated. Further studies are needed to confirm the present findings and to monitor future trends.

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