vibrio cholerae o1 are classified into two biotypes, classical and el tor based on susceptibility to bacteriophages and some biochemical properties, each encoding a biotype-specific genetic determinants. before 1961, most epidemics had been caused by the classical biotype. however, with the passage of time, the classical biotype missed from the scenario and the el tor emerged as the major bioty...

context the pnpla3 i148m variant has been recognized as a genetic determinant of liver fat content and a genetic risk factor of liver damage progression associated with steatohepatitis. the i148m variant is associated with many chronic liver diseases. however, its potential association with inflammatory and autoimmune liver diseases has not been established. evidence acquisition we systemically...

background: considering a few studies on the genetic basis of the cystinuria in the middle east and the population-specific distribution of mutations in the slc3a1 , we tried to find genetic variants in three exons (1, 3, and 8) of slc3a1 . materials and methods: in this study, exons 1, 3, and 8 of slc3a1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase cha...

hereditary ataxias are heterogeneous group of neurodegenerative disorders classified mainly into more than 40 autosomal dominant cerebellar ataxias and 50 recessive ataxias. large amount of nearly uncommon subtypes with extensive phenotypic overlap and relatively high rate of abnormal repetitive sequence expansions, such as trinucleotide repeat expansions make diagnostic genetic testing complic...

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...

background: cytochrome p450 2c19 (cyp2c19) is important in metabolism of wide range of drugs. cyp2c19*17 is a novel variant allele which increases gene transcription and therefore results in ultra-rapid metabolizer phenotype (urm). distribution of this variant allele has not been well studied worldwide. the aim of present study was to investigate allele and genotype frequencies of cyp2c19*17 in...

Synthesis of heat exchanger networks (HENs) is inherently a mixed integer and nonlinear programming (MINLP) problem. Solving such problems leads to difficulties <span style="font-size: 10pt; color: #00...

Background: The clinical phenotyping of patients with achromatopsia harboring variants in phosphordiesterase 6C (PDE6C) has poorly been described in the literature. PDE6C encodes the catalytic subunit of the cone phosphodiesterase, which hydrolyzes the cyclic guanosine monophosphate that proceeds with the hyperpolarization of photoreceptor cell membranes, as the final step of the phototransduct...

Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify...