Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...

objective(s): breast cancer is the most common cancer in women. every year, one million new cases are reported worldwide, representing 18% of the total number of cancer in women. hereditary brca1 and brca2 mutations account for about 60% of inherited breast cancer and are the only known causes of hereditary breast cancer syndrome. the aim of this study was to determine the frequency of brca2 (e...

conclusions the mtbdrplus and mtbdrsl genotypic testing can serve as useful additional tools for dst in a high-burden country like pakistan provided it is used in combination with phenotypic testing. results the sensitivity of mtbdrplus for isoniazid and rifampicin was found to be 88.8% and 90.2%, respectively, while sensitivity of mtbdrsl for fluoroquinolones, amikacin/capreomycin, and ethambu...

background: minimal residual disease (mrd) tests provide early identification of hematologic relapse and timely management of acute myeloid leukemia (aml) patients. approximately, 50% of aml patients do not have clonal chromosomal aberrations and categorize as a cytogenetically normal acute myeloid leukemia (cn-aml). about 60% of adult cn-aml has a mutation in exon 12 of npm1 gene. this mutatio...

this paper proposes a method to solve multi-objective problems using improved particle swarm optimization. we propose leader particles which guide other particles inside the problem domain. two techniques are suggested for selection and deletion of such particles to improve the optimal solutions. the first one is based on the mean of the m optimal particles and the second one is based on appoin...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

objective(s): the major antibiotic efflux pump of esherichia coli is acrab-tolc. the first part of the pump, acrab, is encoded by acrab operon. the expression of this operon can be kept elevated by overexpression of an activator, mara following inactivation of marr and acrr repressors due to mutation in encoding genes, marr and acrr, respectively. the aims of this research were to use e. coli m...