فهرست مطالب syed abbas

Retinitis pigmentosa (RP) belongs to pigmentary retinopathies, a generic name for all retinal dystrophies with a major phenotypical and genotypical variation, characterized by progressive reduction of photoreceptor functionality of the rod and cone. Global prevalence of RP is ~ 1/4000 and it can be inherited as autosomal dominant (adRP), autosomal recessive (arRP) or X- linked (xlRP). We designed this study to identify causative mutations in Pakistani families affected with arRP.

In 2019, we recruited two unrelated Pakistani consanguineous families affected with progressive vision loss and night blindness from Punjab region. Clinical diagnosis confirmed the; bone spicule pigmentation of the retina, and an altered electroretinogram (EGR) response. Proband and healthy individual from each family were subjected for whole-exome sequencing (WES).  Various computational tools were used to analyze the Next Generation Sequencing (NGS) data and to predict the pathogenicity of the identified mutations.

WES data analysis highlighted two missense homozygous variants at position c.T1405A (p.S469T) in PLCE1 and c.T11C (p.V4A) in HPS1 genes in proband of both families. Healthy individuals of two families were tested negative for p.S469T and p.V4A mutations. The variant analysis study including molecular dynamic simulations predicted mutations as disease causing. 

Compound effect of mutations in rarely linked PLCE1 and HPS1 genes could also cause RP. This study highlights the potential application of WES for a rapid and precise molecular diagnosis for heterogeneous genetic diseases such as RP.

In this paper, utilizing the technique of Petryshyn’s fixed point theorem in Banach algebra, we analyze the existence of solution for functional integral equations, which includes as special cases many functional integral equations that arise in various branches of non-linear analysis and its application. Finally, we introduce the numerical method formed by modified homotopy perturbation
approach to resolving the problem with acceptable accuracy.

Butterflies of the Inani Reserve Forest were studied between May 2014 and May 2015. One hundred twenty five species of butterflies belonging to 84 genera and six families (Hesperiidae, Papilionidae, Pieridae, Lycaenidae, Riodinidae and Nymphalidae) were recorded during this study. The highest number of species comprised Family Nymphalidae (38 species, 30.4%) followed by Lycaenidae (35 species, 20.8%), Hesperiidae (26 species, 20.16%), Pieridae (16 species, 12.8%), Papilionidae (9 species, 7.2%) and the Family Riodinidae comprised the lowest (one species, 0.8%). The abundance of recorded butterflies was calculated in term of Very Common (20 species), Common (29 species), Uncommon (32 species), Rare (23 species) and Very Rare (21 species). The butterflies preferred different types of habitat (viz., Grass Land, Crop Land, Open Forest, Scrub Forest, Dense Forest and Bamboo Patches). Thirty species of butterflies were regularly observed in all kind of habitats, 69 species preferred multiple habitats (8 in 4 types, 24 in 3 types and 38 in 2 types of habitat) and 25 species were recorded only in a single type of habitats. Mud-puddling of 36 species were also observed. During this study, Zinaspa todara (Family: Lycaenidae) was the first time record in Bangladesh and Euploea doubledayi (Family: Danaidae) was recorded after 150 year later.