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Behavioural Neurology (1)
PLoS ONE (1)
Sultan Qaboos University Medical Journal (1)
Osman, Ossama (2)
Abdulrazzaq, Yousef M. (1)
Akawi, Nadia A. (1)
AlHassani, Ghanem (1)
AlSabousi, Mouza (1)
Ali, Bassam R. (1)
Amiri, Leena (1)
Bastaki, Salim M. A. (1)
Hashim, Muhammad J. (1)
Major, Stella (1)
McLean, Michelle (1)
Mirza, Deen M. (1)
Mufaddel, Amir (1)
Osman, Ossama T. (1)
Prinsloo, Engela A. M. (1)
Qumsieh, Rula Y. (1)
Salih, Badr (1)
Year of Publication
A Case of Gorlin-Goltz Syndrome Presented with Psychiatric Features
We report a case of a 34-year-old male who presented with an acute onset of pleomorphic psychiatric features. Upon examination we later diagnosed him with Gorlin-Goltz syndrome based on clinical and radiological findings that are characteristic for this rare autosomal dominant syndrome. His psychiatric manifestations included irritability, aggressive behavior, labile mood, hallucinations, paranoid delusions, and transient cognitive impairment. His past history indicated surgical excision of pigmented lesion in the left lower eyelid which turned out to be a basal cell carcinoma. His past visits to dermatology clinics indicated pitted keratosis involving hands, callosities, and seborrheic dermatitis. There were numerous palmar pits, and Brain CT Head scan revealed extensive calcification along falx cerebri and around the cerebellar vermis. He had low (20 ng/L) vitamin D level and high parathyroid hormone level. The patient improved using antipsychotic medications and vitamin D supplementations for symptomatic management and was discharged with a plan for multispecialty outpatient follow-up. This case highlights the importance of considering rare organic etiologies in the differential diagnosis of patients presenting with psychiatric symptoms. This is of vital importance for early intervention to prevent complications and for better outcomes of the coexistent diseases.
Medical Students Learning Communication Skills in a Second Language
Hashim, Muhammad J.
Mirza, Deen M.
Prinsloo, Engela A. M.
Sultan Qaboos University Medical Journal
Communications skills (CS) training for medical interviewing is increasingly being conducted in English at medical schools worldwide. In this study, we sought to identify whether Arabic-speaking medical students experienced difficulty with the different components of the CS training that were conducted in English.
Individual third-year preclinical medical students (N = 45) were videotaped while interviewing simulated patients. Each student assessed his/her performance on a 13-item (5-point scale) assessment form, which was also completed by the tutor and other students in the group.
Of the 13 components of their CS training, tutors awarded the lowest marks for students’ abilities to express empathy, ask about patients’ feelings, use transition statements, ask about functional impact, and elicit patients’ expectations (P <0.001).
The expression of empathy and the ability to elicit patients’ feelings and expectations are difficult to develop in medical students learning CS in a second language.
Communication; Medical history taking; Language; Medical students; Patient-centered care; United Arab Emirates
Identification of New Alleles and the Determination of Alleles and Genotypes Frequencies at the CYP2D6 Gene in Emiratis
Qumsieh, Rula Y.
Ali, Bassam R.
Abdulrazzaq, Yousef M.
Akawi, Nadia A.
Bastaki, Salim M. A.
CYP2D6 belongs to the cytochrome P450 superfamily of enzymes and plays an important role in the metabolism of 20–25% of clinically used drugs including antidepressants. It displays inter-individual and inter-ethnic variability in activity ranging from complete absence to excessive activity which causes adverse drug reactions and toxicity or therapy failure even at normal drug doses. This variability is due to genetic polymorphisms which form poor, intermediate, extensive or ultrarapid metaboliser phenotypes. This study aimed to determine CYP2D6 alleles and their frequencies in the United Arab Emirates (UAE) local population. CYP2D6 alleles and genotypes were determined by direct DNA sequencing in 151 Emiratis with the majority being psychiatric patients on antidepressants. Several new alleles have been identified and in total we identified seventeen alleles and 49 genotypes. CYP2D6*1 (wild type) and CYP2D6*2 alleles (extensive metaboliser phenotype) were found with frequencies of 39.1% and 12.2%, respectively. CYP2D6*41 (intermediate metaboliser) occurred in 15.2%. Homozygous CYP2D6*4 allele (poor metaboliser) was found with a frequency of 2% while homozygous and heterozygous CYP2D6*4 occurred with a frequency of 9%. CYP2D6*2xn, caused by gene duplication (ultrarapid metaboliser) had a frequency of 4.3%. CYP2D6 gene duplication/multiduplication occurred in 16% but only 11.2% who carried more than 2 active functional alleles were considered ultrarapid metabolisers. CYP2D6 gene deletion in one copy occurred in 7.5% of the study group. In conclusion, CYP2D6 gene locus is heterogeneous in the UAE national population and no significant differences have been identified between the psychiatric patients and controls.
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