Purpose: To evaluate the ultrastructural features of the urinary stones removed with endoscopic stone surgery, using micro computed tomography (micro-CT). Materials and Methods: Patients who had endoscopic surgery for renal or ureteral stones removal were included in this study. After surgery, the stones were classified into three groups and investigated with Skyscan 1174 micro-CT. Group I unde...

Fragile sites consist of isochromatid chromosome breaks which take place at specific sites along a chromosome and segregate as simple Mendelian traits.1 2 While the Xq28 fragile site is regarded as a marker for X linked mental retardation, the fragile sites on autosomes are regarded as normal uncommon variants. The present case supports the idea that the presence of fragile sites may constitute...

OBJECTIVE To examine the value of neurodevelopmental examination, fragile X testing, iron studies, and other screening procedures in children with mild to moderate learning difficulties. DESIGN A cross sectional case-control study. SUBJECTS A 34% random sample (n = 130) of children with mild to moderate learning difficulties born between 01/07/83 and 30/06/84 and resident in North and West ...

Females with fragile X syndrome, the most common form of inherited developmental and learning problems, are known to be impaired in executive function. The current study is the first to investigate the performance of females with fragile X on a cognitive interference task utilizing functional magnetic resonance imaging (fMRI). Fourteen females with fragile X and 14 age-matched healthy controls ...

Common fragile sites are loci that form chromosome gaps or breaks when DNA synthesis is partially inhibited. Fragile sites are prone to deletions, translocations, and other rearrangements that can cause the inactivation of associated tumor suppressor genes in cancer cells. It was previously shown that ATR is critical to fragile-site stability and that ATR-deficient cells have greatly elevated f...

It has been suggested that delayed DNA replication underlies fragility at common human fragile sites, but specific sequences responsible for expression of these inducible fragile sites have not been identified. One approach to identify such cis-acting sequences within the large nonexonic regions of fragile sites would be to identify conserved functional elements within orthologous fragile sites...

Fragile X syndrome is an X-linked mental retardation condition that usually is due to a trinucleotide-repeat expansion in the FMR1 gene. Whereas full-mutation alleles (> 230 repeats) lead to fragile X syndrome, premutation alleles (approximately 60-200 repeats) are apparently non-penetrant. However, previous studies have suggested that female premutation carriers may have an increased incidence...

background: fragile histidine triad protein (fhit), as a known tumor suppressor protein, has been proposed to play crucial role in inhibiting p53 degradation by mdm2. studies have confirmed fhit interaction with p53 or mdm2, although functional interacting domains of fhit with mdm2 and/or p53 are not completely defined. thus, through determining the significant structural interacting domains of...