Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan. Eight consanguineous families were recruited, and clinical and ophthalmological examination was carried out to diagnose the disease. Whole blood was collected from the participating individuals, and genomic DNA was extracted for sequencing analysis. TruSight one-panel sequencing was carried out on one affected individual of each family, and termination Sanger sequencing was carried out to establish the co-segregation of the causative gene or genes. In silico analysis was conducted to predict the causative pathogenic variants. Two families were found to have novel genetic pathogenic variants, and six families harbored previously reported variants. One novel compound heterozygous pathogenic variant in the TYR gene, c.1002delA; p.Ala335LeufsTer20, a novel frameshift deletion pathogenic variant and c.832C>T; and p.Arg278Ter (a known pathogenic variant) were found in one family, whereas HPS1; c.437G>A; and p.Trp146Ter were detected in another family. The identification of new and previous pathogenic variants in TYR, OCA2, and HPS1 genes are causative of congenital OCA, and these findings are expanding the heterogeneity of OCA.

Upper extremity musculoskeletal disorders and exposure to Ergonomic risk factors among handicraft workers.

OBJECTIVE: To determine the association of Upper extremity musculoskeletal disorders and Exposure to Ergonomic risk factors among handicraft workers. METHODS: This cross-sectional survey was conducted in a 12 weeks' duration i.e. from November 2018 till January 2019. Nordic musculoskeletal questionnaire was used to determine the frequency of upper limb musculoskeletal disorders. Postural analysis was done using Rapid Upper Limb Assessment (RULA). Data was collected from 100 Handicraft workers and the type of work included Art work (n=18), Ada Work (n=7), botanical arrangement (n=11), Textile, fashion designing and stitching (n=38), Fine arts (n=20), embroidery and knitting (n=6). RESULTS: The frequency distribution of Rapid upper limb assessment (RULA) score for exposure to risk factors showed that 47 participants were at a high risk and required implementation of change. Most of the participants (n=35) reported pain in neck and shoulder (n=29). The chi square test for association between pain in upper extremity and exposure to risk factors showed that only wrist pain had statistically significant association with overall RULA score (p-value<0.05). CONCLUSION: The study concluded that neck and shoulder are more frequently affected among handicraft workers. The frequency of workers who were at high ergonomic risk and required implementation of change in working conditions was high.

Use of Smart Phones and Social Media in Medical Education: Trends, Advantages, Challenges and Barriers.

INTRODUCTION: The technological advancements have transformed the society into a global forum influencing the educational processes and learning environments. Medical education is no exemption with an increasing trend to use the social media and smart phones for teaching and learning. Facebook, WhatsApp, Instagram, YouTube and Edmodo are the platforms promoting collaborative learning, improved communication and knowledge sharing. AIM: This study aims to review the use of smart phones and social media in the context of medical education. It reviews the usage of smart phone and social medical applications including Facebook, WhatsApp and Edmodo for teaching and learning in medical education. RESULTS: The use of personal smartphones for teaching and learning among medical community is highly prevalent and increasing day by day. Medical students use the mobile application for online textbooks (70%), medical podcasts (60%), medical calculator (75%), online lecture (50%) and notes taking (45%). Relevant studies conclude that the majority of students use smart phones for education (62.7%), communication (81.7%) and recreation (82.5%). Social media has a great potential in educational setting and provide students a chance to involve, share and express knowledge and information with each other. Facebook, WhatsApp and Edmodo are the commonly used applications having multiple benefits like collaboration, feedback and engagement but negative aspects including addiction, distraction and maintenance of privacy have also been found. CONCLUSION: The review article concludes that social media is a powerful instrument for social interactions and is also used as a tool for teaching and learning. The integration of social media with traditional class teaching in medical education has clear advantages but there is a debate about the probable disadvantages as well.

Self-Medication Phenomenon; A Population Based Study from Lahore.

OBJECTIVE: To study the reasons of self-medication in rural and urban population.. METHODS: The cross-sectional descriptive study was conducted in Lahore, Pakistan, from March to August 2017, and comprised inhabitants of rural and urban areas of the city regardless of gender and aged 18-50 years. The subjects were enrolled using non probability convenience sampling technique. Data was collected using a semi-structured questionnaire, which was validated through content validity index. Data was analysed using SPSS 21. RESULTS: Of the 786 participants, 551(70%) were from the urban areas and 235(30%) were from the rural areas. The mean age of the sample was 30.54±8.50. Overall, 746(95%) were taking medicines without a prescription. Among them, 528(96%) were urban and 218(93%) were rural inhabitants (p<0.07). Besides, 352(47.2%) were males and 394(52.8%) were females (p>0.05). The most frequent reason cited for self-medication was quick relief by 478(64.1%) subjects. CONCLUSIONS: Self-medication prevalence was very high in both urban and rural populations.