A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.

OBJECTIVES: To identify genetic defects in an Omani family diagnosed with deafness.  METHODS: A cross-sectional association study was conducted at the Department of Biochemistry, College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman and the Centre of Medical Genetics, University of Antwerp, Antwerp, Belgium between August 2010 and September 2014. Microsatellites markers for nine non-syndromic genes were used to genotype the defective locus using the extracted DNA from family members. Sanger sequencing method was used to identify the disease causative mutation. Eazy linkage 5.05 was used to calculate the logarithm of odds score. Lasergene suite was used to detect the mutation position, and Phyre2, SMART, Rasmol, and GOR IV were used to predict the effects of the defect on protein structure and function.  RESULTS: The disease was linked to markers located on chromosome-2 and covering the OTOF (DFNB9) gene. A novel missense mutation that changed nucleotide C to G at position c.1469 and consequently the amino acid Proline to Arginine (P490R) on exon 15 was detected. Protein modeling analysis revealed the impact of the mutation on protein structure and the relevant C2C domain. The mutation seems to create a new protein isoform homologous to the complement component C1q.  CONCLUSION: These findings suggest that the mutation found in C2C domain of the OTOF gene is likely to cause deafness in the studied family reflecting the importance of C2 domains of otoferlin in hearing loss.

Assessment methods in undergraduate medical education.

Various assessment methods are available to assess clinical competence according to the model proposed by Miller. The choice of assessment method will depend on the purpose of its use: whether it is for summative purposes (promotion and certification), formative purposes (diagnosis, feedback and improvement) or both. Different characteristics of assessment tools are identified: validity, reliability, educational impact, feasibility and cost. Whatever the purpose, one assessment method will not assess all domains of competency, as each has its advantages and disadvantages; therefore a variety of assessment methods is required so that the shortcomings of one can be overcome by the advantages of another.

Is performance in pre-clinical assessment a good predictor of the final Doctor of Medicine grade?

OBJECTIVE: To investigate if any correlation exists between students' grades on their final doctor of Medicine (MD) assessment and their overall preclinical grade point average (GPA) and its component parts. METHODS: Student data available from the Deanship of Admissions and Registration were analyzed. Pearson correlation coefficient was obtained to assess the degree of linear relationship between performance in the preclinical and the MD assessment of 529 students who graduated from the College of Medicine and Health Sciences, Sultan Qaboos University, Al-Khoud, Oman from June 1998 to June 2005. Simple and multiple regression analyses were performed to evaluate individual and combined impact of the preclinical courses' grades on MD grades. RESULTS: Preclinical GPA correlated highly with MD GPA (r=0.641). The science component taught early in the preclinical phase correlated more strongly (r=0.457) than student electives (r=0.246). This correlation was better in the good English group. Students' performance, however, was best in electives, but worst in English. Most students who had low MD GPA (<2.0) had also preclinical and science GPA of <2.5. The students with low GPA were found to spend longer in the medical program. CONCLUSION: Restricting progression to the clinical phase to those students whose preclinical GPA is >2.5, and limiting the credit hour requirement of electives by the College seems to be justified.

Medical education units: history, functions, and organisation.

Most medical schools have established a medical education unit (MEU) or similar bodies in response to various reforms in medical education. Such units have a variety of titles and operate either independently or under the office of the dean. Their activities include conducting educational research, teaching and providing service and career development of academic staff. The scope of their activities ranges from serving medical faculty only to all other health professionals at either the undergraduate or postgraduate levels. Several factors contribute to the success of MEUs and their establishment is seen to have a positive effect on their medical school.