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Rāwalpindi, Pakistan

Yousaf S.,COMSATS Institute of Information Technology | Khan M.I.,COMSATS Institute of Information Technology | Micheal S.,COMSATS Institute of Information Technology | Akhtar F.,Al Shifa Eye Trust Hospital | And 8 more authors.
Molecular Vision | Year: 2011

Purpose: The present study was designed to determine the association of polymorphisms of the DNA repair genes X-ray cross-complementing group 1 (XRCC1) (c.1316G>A [rs25487]) and xeroderma pigmentosum complementation group D (XPD) (c.2298A>C [rs13181]) with primary open-angle glaucoma (POAG) and primary closed-angle glaucoma (PCAG). Methods: In this prospective case-control study, polymerase chain reaction-restriction fragment length polymorphism analysis was used to study the association of XRCC1 and XPD with 160 POAG patients, 163 PCAG patients, and 193 unaffected controls. Results: XRCC1 rs25487 was found to be significantly associated specifically with male POAG patients (χ2=13.2 [p=0.001]), only for the dominant model (odds ratio [OR]=2.65 [95% confidence interval [CI]=1.44-4.85], p<0.005). In addition XPD rs13181 was also found to be associated with male POAG patients (χ2=12.1 [p<0.005]), for both dominant (OR=2.44 [95% CI=1.33-4.47], p<0.005) as well as recessive model (OR=3.62 [95% CI=1.45-9.01], p<0.01). Combined genotypes of both the genes revealed that the heterozygote AC/GA was significantly associated with the male POAG patients (z=3.00 [p<0.001]). The AA/GG genotype was present at a higher frequency in the male controls and the AA/ GA in the female controls and could thus have a protective role in males and females, respectively. Conclusions: We postulate that defects in the DNA repair genes XRCC1 and XPD may possibly be associated with the progression of POAG in male patients of Pakistani origin. © 2011 Molecular Vision.

Zafar A.V.,AFIRI | Khan S.,AFIRI | Zafar S.N.,Al Shifa Eye Trust Hospital
Journal of the College of Physicians and Surgeons Pakistan | Year: 2013

Objective: To determine the frequency of breast arterial calcifications (BAC) as seen on mammographic examination and to determine the association between BAC and hypertension, age, parity and weight of the person. Study Design: Cross-sectional analytic study. Place and Duration of Study: Department of Diagnostic Radiology, Military Hospital, Rawalpindi, from January 2006 to January 2007. Methodology: Two hundred patients undergoing mammography were studied to evaluate the association of BAC with raised blood pressure, age and parity. Previous history of lactation and the patients' weight were also recorded. Proportions of classes were compared using chi-square test. Results: 13.5% of the subjects (n = 200) were positive for BAC on mammograms. Mean age of the BAC positive subjects was higher than their counterparts found negative for BAC. Women bearing 5 - 6 children showed the highest frequency of BAC. Seventy seven (10.38%) of the BAC positive cases had previous history of lactation, whereas 15.44% (n = 123) had not breast fed their children and showed BAC. No significant association of presence of BAC was noted with the weight of the subjects. Conclusion: The frequency of presence of BAC on mammography was associated with systemic hypertension and higher age. It also increased with the reproductive parameters of a woman. © 2013 College of Physicians and Surgeons Pakistan.

Maria M.,Sustainable Development Technology | Maria M.,Radboud University Nijmegen | Ajmal M.,Sustainable Development Technology | Ajmal M.,Radboud University Nijmegen | And 25 more authors.
PLoS ONE | Year: 2015

Background: Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD). © 2015 Maria et al.

Nazullah,Khyber Teaching Hospital | Shah A.,Al Shifa Eye Trust Hospital | Ahmed M.,Hayatabad Medical Complex | Baseer A.,Khyber Teaching Hospital | And 2 more authors.
Journal of Medical Sciences | Year: 2010

Objectives: The main objective of this study was to compare the recurrence rate of pterygium after excision using bare sclera technique and free conjunctival autograft (CAG). Material & Methods: This was a comparative interventional case series conducted from March 2005 to March 2006 in the Ophthalmology Department of Khyber Teaching Hospital Peshawar. A total of 60 patients were included in this study. The patients were divided into. Group A and group B. An equal number of patients were included in each group. We used the bare sclera technique for group A patients and free conjunctival autograft (CAG) for group B. In free conjunctival autograft (CAG), the bare sclera was measured with a caliper and a graft of the same size was taken from the supero temporal region of the bulbar conjunctiva and grafted onto the bare sclera suturing it with 10/0 nylon to the surrounding conjunctiva. All patients were operated under subconjunctival anesthesia. Results: Out of 60 patients, 67% were male and 33% female. Patient age ranged from 20-50 years. The recurrence was 36.6% in group A and 6.6% in group B. Conclusion: Free conjunctival autograft is a better technique for prevention of recurrence after pterygium surgery.

Micheal S.,Radboud University Nijmegen | Khan M.I.,Radboud University Nijmegen | Islam F.,Al Shifa Eye Trust Hospital | Akhtar F.,Al Shifa Eye Trust Hospital | And 6 more authors.
Cornea | Year: 2016

Background: Brittle cornea syndrome (BCS) is a rare autosomal recessive connective tissue disease characterized by variable combinations of corneal thinning and fragility, corneal ruptures either spontaneously or after minor trauma, blue sclerae, keratoconus, keratoglobus, and high myopia. So far, mutations in 2 genes, PRDM5 and ZNF469, have been associated with BCS. The purpose of this study is to describe novel mutations in the PRDM5 gene in patients with BCS. Methods and Results: Using homozygosity mapping with singlenucleotide polymorphism markers followed by whole-exome sequencing, we identified a novel homozygous splice site variant (c.93+5>A) in the PRDM5 gene in a consanguineous Pakistani family with 4 affected individuals. Reverse transcription-polymerase chain reaction analysis from lymphocyte-derived RNA failed to reveal any exon skipping because of this splice site variant. A homozygous variant (c.11>G; p.Gln4Pro) in SEC24D also segregated with the disease in this particular family. One previously known mutation (c.974del; p.Cys325LeufsX2) was identified in a sporadic patient with BCS from Serbia. Conclusions: The current study revealed a novel mutation in the PRDM5 gene in a BCS family and recurrent mutation in a sporadic BCS patient. A variant in the SEC24D gene also segregated in the BCS family, although its role in the disease remains unclear. © 2016 Wolters Kluwer Health, Inc. All rights reserved.

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