Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic CNVs in patients with cardiac defects. Materials and Methods: In the present study, 70 patients with familial (20 patients) and sporadic (50 pati...

OBJECTIVES Genetic causes of sporadic and familial renal oncocytomas are not known. We analyzed these tumors genetically in order to detect tumor-specific chromosome alterations. METHODS DNA from 26 sporadic and 31 familial renal oncocytomas were screened by comparative genomic hybridization according to standard protocols including degenerate oligonucleotide-primed PCR. RESULTS Chromosome ...

oxidative stress plays a major role in the pathogenesis of alzheimer's disease (ad) of sporadic origin. the expression of dhcr24 (seladin-1), marker for neuronal oxidative stress and degeneration, has been reported to be altered in the brains of ad patients. in the present study, we investigated the effect of trimetazidine (tmz) on the hippocampal oxidative parameters and the expression of dhcr...

Outbreak data have been used to estimate the proportion of illnesses attributable to different foods. Applying outbreak-based attribution estimates to nonoutbreak foodborne illnesses requires an assumption of similar exposure pathways for outbreak and sporadic illnesses. This assumption cannot be tested, but other comparisons can assess its veracity. Our study compares demographic, clinical, te...

sporadic alzheimer’s disease (sad) is affected by genetic risk factors, aging and oxidative stresses. the herbal extract of r. canina, t. vulgare and u. dioica has a beneficial role in aging, as an anti-inflammatory and anti-oxidative agent. we investigate the neuroprotective effects of this herbal extract in the rat model of sad.  the rats were divided into control, sham, model, herbal extract...

The availability of high-throughput genome sequencing technologies is expected to revolutionize our understanding of not only hereditary neurological diseases but also sporadic neurological diseases. The molecular bases of sporadic diseases, particularly those of sporadic neurodegenerative diseases, largely remain unknown. As potential molecular bases, various mechanisms can be considered, whic...