Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jun 2011
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.
The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.
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To evaluate the efficacy of a modified procedure of palatal stiffening for the treatment of snoring. ⋯ Palatal stiffening procedure causing relatively less morbidity, simple and minimally invasive, but effective at the same time.
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To determine the main causes of visual impairment in children with low vision. To assess the need of spectacles and low vision devices (LVDs) in children and to evaluate visual outcome after using their LVDs for far and near distance. ⋯ Retinal diseases nystagmus and macular conditions were mainly responsible for low vision in children. Visually impaired children especially with hereditary/congenital ocular anomalies benefit from refraction and low vision services which facilitate vision enhancement and inclusive education.
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J Coll Physicians Surg Pak · Jan 2011
Comparative StudyComparison of convergence angle of prepared teeth for full veneer metal ceramic crowns.
To compare clinically practiced convergence angle values of tooth preparation with recommended values, and also the effect of tooth position and operator experience on convergence angle. ⋯ There was a considerable disparity between the convergent angles values recorded in this study and the recommended guidelines. Measured convergence angle values were greater for posterior teeth as compared to the anterior teeth.
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J Coll Physicians Surg Pak · Oct 2010
Molecular studies of ichthyosis vulgaris in Pakistani families.
To target and amplify a 1.5 kb FLG gene fragment known to carry R501X mutation responsible for causing ichthyosis vulgaris. ⋯ The results obtained during this study suggested the possibility of the R501X mutation as being one of the major causes of ichthyosis vulgaris in Pakistan. In addition, the study also revealed the possibility of the presence of novel FLG gene mutations in our population.