ABSTRACT
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. Result: 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.
ABSTRACT
BACKGROUND: Intimate partner violence against women is a significant problem in Pakistan associated with an alarming set of mental health issues. AIMS: To identify the prevalence of intimate partner violence 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 intimate partner violence 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 intimate partner violence, 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 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.