Objective: To identify the genetic variants in the CYP1B1 gene associated with Primary Congenital Glaucoma (PCG) and to predict its pathological effect. Method: A descriptive study was conducted in the time period of nine months (September 2021-May 2022) after the ethical approval was taken from The Children Hospital and Institute of Child Health (CH & ICH). Two milliliters of the blood sample from PCG-affected individuals were collected in EDTA vacutainers and genomic DNA was extracted by a phenol-chloroform method. The semi-quantification of extracted DNA was done by agarose gel electrophoresis. PCR amplification was performed by specific primers of CYP1B1 gene then termination sequencing (di-deoxy) was done to detect the genetic variants. Different bioinformatics tools such as BLAST, Ensembl, Clustal Omega, Polyphen and SIFT were used for the further analysis of mutation causing the disease. Results: A total of 85% of patients were bilaterally affected, while 15% were unilaterally affected. Mutation analysis identified five non related known variants. Two missense mutations (c.355 G/T p.A119S and c.685G/A p.E229K) occurred in 94% patients and intragenic SNP occurred in 29% patients along with the 1% somatic (c.693C/A p.F231L) and stop gained mutation (c.840C/A p.C280*). Conclusion: Genetic analysis in the current study showed that 85% of PCG affected patients were due to the CYP1B1 mutation, and disease heterogeneity might be reduced through genetic counseling. doi: https://doi.org/10.12669/pjms.39.2.7081 How to cite this: Zahid T, Khan MU, Zulfiqar A, Jawad F, Saleem A, Khan AR. Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma. Pak J Med Sci. 2023;39(2):---------. doi: https://doi.org/10.12669/pjms.39.2.7081 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Despite the current endeavors by the government in Bahrain to promote inclusion of students with special educational needs, the perceptions of deaf and hard-of -hearing students' inclusion is yet to be examined in the art or design classroom. The research involves a thematic analysis of the challenges and opportunities of inclusive education in art and design higher educational settings, and investigates the perceptions of educators, parents, and students of it. It mainly aims to provide guidelines and recommendations for the implementation of the most effective teaching approaches in art and design higher education for deaf and hard-of-hearing students in Bahrain. The study involves two stages; the first involved conducting semi-structured interviews with parents and the second stage was based upon interviews and focus groups with deaf and hard-of-hearing students enrolled in the BA Art and Design program at the University of Bahrain. The study is undertaken to determine the most effective strategies, pedagogies and approaches that can be employed by educators to enhance deaf and hard-of-hearing students' learning process. It mainly concludes that segregating deaf and hard-of-hearing students in self-contained classrooms for theory-based courses and ABOUT THE AUTHOR Sama'a Al Hashimi conceptualized the project and worked on its visualization, supervised the research project and its administration. Sama'a Al Hashimi along with Jameela Sadoun conducted research validation, formal analysis, investigation, providing resources, data curation. Jameela Sadoun accomplished review and editing, and conclusions. Yathreb Almahoozi, Fatima Jawad, and Noor Hasan worked under the supervision of Sama'a Al Hashimi on the original draft preparation, conducting interviews and data collection.
Technology has become an integral element in the life of communities. One of the major fields that Technology is playing a major role is the citizens' participation through what is called E-Participation. E-Participation is the use of Technology to enhance participation between different stakeholders and governments. It increases transparency, enhances the communication between the government and stakeholders including citizens, and enables them to involve in policy making process.
Background: Intimate partner violence (IPV) against women is a significant problem in Pakistan associated with an alarming set of mental health issues. Aims: To identify the prevalence of IPV in Pakistan and the causes, health effects and coping strategies used by women. Methods: A comprehensive search based on the identified keywords was conducted using Google Scholar and PubMed. Relevant literature was also searched and included. Abstracts were then shortlisted using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, and 25 studies were selected. Quantitative studies on IPV were included in the review. The review comprises only reports published in English from 2008 to 2018. Results: The review accounts for the overall prevalence of violence and its various subtypes against women in Pakistan: psychological 31.3-83.6%, physical 10.0-98.5%, sexual 2.5-77.0%, physical and sexual combined 1.0-68.0% and any other type 6.9-90.0%. Conclusion: The evidence generated will help notify policy-makers and health officials about the determinants and effects of IPV, making it easier to address these issues and identify victims as early as possible. It also sheds light on the limitations of this study: tools used by the published 1 / 13 WHO EMRO | Intimate partner violence against women: a comprehensive depiction of Pakistani literature studies not specifically designed for Pakistan and there is no standardized definition of violence against women. This calls for more studies to be conducted to help find a solution.
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