Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...

the term reflex epilepsy in reserved for a small subgroup o seizures that occur regularly in response to specific stimuli. our patient is a 20- year old male, who had pleasure, euphoria, loss of conciousness and generalized tonic- clonic convulstion when he watched tv since ten years. during puberty the patient that self-induced reflex epilepsy with photic stimulation, when watching tv or looki...

Escherichia coli strains carrying null alleles of genes encoding single-strand-specific exonucleases ExoI and ExoVII display elevated frameshift mutation rates but not base substitution mutation rates. We characterized increased spontaneous frameshift mutation in ExoI- ExoVII- cells and report that some of this effect requires RecA, an inducible SOS DNA damage response, and the low-fidelity, SO...

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

osteosarcoma (os) is the eighth common cancer of childhood and its incidence is 4 cases in one million in children younger than 14. facial os incidence is estimated between 8 and 10% of os cases. the main etiology of os is unknown, but various predisposing factors are proposed such as radiation, radiotherapy, some benign bone diseases like paget’s disease or fibrous dysplasia. there is a 5-year...

A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent ...

AbstractUnderstanding operator bias in evolutionary computation is important because it is possible for the operator’s biases to work against the intended biases induced by the fitness function. In recent work we showed how developments in GP schema theory can be used to better understand the biases induced by the standard subtree crossover when genetic programming is applied to variable length...

BACKGROUND Drug-induced long QT syndrome is generally ascribed to inhibition of the cardiac rapid delayed rectifier potassium current (IKr). Effects on the slow delayed rectifier potassium current (IKs) are less recognized. Triggered by a patient who carried the K422T mutation in KCNQ1 (encoding the α-subunit of the IKs channel), who presented with excessive QT prolongation and high serum level...