background: phenylketonuria (pku) is an autosomal recessive disease of phenylalanine metabolism that brings deficiency of the enzyme phenylalanine hydroxylase (pah). early diagnosis is very important to prevent complications. this study was designed to describe characteristics of patients with phenylketonuria in mazandaran province in northern iran. methods: we studied 24 cases suffering from p...

Hypoxanthine-guanine phosphoribosyl transferase (HPRT) deficiency is an X-linked defect of purine metabolism. Clinical manifestations are usually related to the degree of enzyme deficiency; complete HPRT deficiency (Lesh-Nyhan Syndrome) presenting with severe neurological or renal symptoms, or partial HPRT deficiency (Kelley-Seegmiller syndrome) manifesting as a gout-urolithiasis syndrome. We r...

The MASA syndrome is an X-linked disorder with mental retardation, spastic paraparesis, and adducted thumbs as the most characteristic features. We performed linkage analysis, using Xq28 markers, on a large MASA syndrome family. The maximum lodscore was 6.37 at 0 recombination for DXS52 and 5.99 at 0 recombination for DXS305. Crossovers were demonstrated between the disorder and DXS455. Clinica...

Background Mental retardation is a developmental disability that first appears at children under the age of 18. About 5% of the mentally retarded population is affected by severe mental retardation. Approximately 20% of the population with mental deficience presents moderate mental retardation and about 75% have mild mental retardation. A very important factor that cause mental retardation of c...

one of the most difficult and the most common behavioral problems in people with mental retardation, from mild to severe, that adversely affect interpersonal behavior and unpleasant effect on people's moods and mental self. social skills is a process that individuals understand and predict the behavior of others and also control their behavior and regulate social interactions.quasi-experimental...

objective epilepsy is reported in 15-90% of the children with cerebral palsy (cp) but its clinical course is not well defined. we conducted a retrospective study on children with hemiparetic cp who were referred to pediatric neurology department of mofid hospital. the aim of our study was to evaluate the risk factors and prognosis of epilepsy in children with hemiparetic cp. materials & methods...

Our target article (Robinson-Cimpian, Lubienski, Ganley, & Copur-Gencturk, 2014) used nationally representative data to examine the development of gender gaps in math achievement. We found that when boys and girls demonstrate equivalent math test performance and are perceived by their teachers to be equally well behaved and engaged with the material, teachers tend to rate girls as less proficie...

A microburst is a local, intense downdraft which induces an outburst of damaging winds near the ground which extends 4 km or less. Microbursts are of interest to researchers because of the strong, occasionally damaging surface winds they produce, and the hazardous wind patterns they create for aircraft in the landing or takeoff phases of flight. The dynamics and aircraft hazards posed by an iso...