ABSTRACT
Background: Patient-doctor communication is essential for achieving the best healthcare quality for the patients. Saudi Arabia hosts a variety of healthcare providers from diverse cultures and languages, making language barriers distinctive towards effective communication for a predominantly Arab population. There is limited research on the challenges associated with language barriers among non-native medical students. The current qualitative study aims to explore the perceptions and experiences of non-native medical students during clinical encounters with Arabic speaking patient population at a private university in Riyadh, Saudi Arabia. Methods: This is a qualitative case study employing non-native medical students in clinical years to explore their perceptions and experiences towards language barriers. Participants attended four focus group discussions, following a brief regarding the concept of the challenges that language barriers pose. All interviews were recorded and transcribed verbatim. A thematic framework analysis was employed to analyze the data. Results: Twenty-two non-native medical students participated in the study. We identified four broad themes constituting problems in patient interaction, development of clinical skills, managing and overcoming language barriers, and student recommendations to overcome language barrier. Participants suggested improvements in available Arabic language courses and the introduction of a professional skills course in Arabic for non-native students. Conclusion: Non-Native medical students perceived language barriers as an obstacle to a meaningful clinical experience. They identified implications for clinical learning environment, professionalism, empathy, and patient care. Recommendations for advanced occupation-related Arabic language courses to facilitate doctor-patient interactions were made to improve patient-student interactions between native patients and non-native medical students.
ABSTRACT
Background: Retinitis punctate albescens (RPA) is a rare form of retinal dystrophy characterized by congenital stationary night blindness and a characteristic fundus appearance. Missense or nonsense mutations in RDH5 in homozygous or heterozygous state have been implicated in RPA.Material and methods: Two consanguineous Pakistani kindreds with the highly variable manifestation of RPA were studied. Whole-exome sequencing was applied to the index subjects in both families. Sanger sequencing of the candidate RDH5 variant was carried out. Pathogenicity of the detected variant was assessed through bioinformatics tools.Results: The ophthalmic examination through full-field electroretinogram of affected patients in both families was consistent with RPA. A novel splice donor variant at the first exon/intron boundary of RDH5 (NM_002905.3: c.-33 + 2dup) segregated in recessive fashion with the clinical phenotype in both families. One of the heterozygous variant carriers was also observed to have a milder expression of retinal flecks. Haplotype analysis surrounding the splice variant and pattern of runs of homozygosity were suggestive of common ancestry in these families.Conclusion: This is the first report of any pathogenic splice variant at first exon/intron boundary implicated in RPA and suggests another mechanism through which RDH5 variants could be associated with eye phenotype. This study also highlights the importance of a thorough phenotypic evaluation of heterozygous mutation carriers who may exhibit milder symptoms.
