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Öğe Clinical manifestations of tuberous sclerosis complex(Yuzuncu Yil Universitesi Tip Fakultesi, 2013) Atay A.E.; Akbas H.; Sakar N.; Pasa S.; Ari S.; Ekin N.Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome or in sporadic form characterized by hamartamatous lesions in multiple organs. It affects several sites such as skin, kidney, lung, heart, central nervous system and liver in diferent stages of disease. TSC is caused by mutations on either chromosome 9 (9q34, the TSC1 gene) or chromosome 16 (16p13, TSC2 gene). TSC1 and TSC2 genes encode proteins called tuberin and hamartin; respectively. Although the pathogenetic mechanism is exactly unknown, a possible mechanism is a GTPase-activating protein against Rheb (Ras homolog enriched in brain), which regulates mTOR (mammalian target of rapamycin) signaling. The mammalian target of rapamycin (mTOR), is a serine-threonine kinase that increases cell proliferation and growth. We aimed to review the clinical manifestations and their predictive role on the course of disease.Öğe The evaluation of paraoxonase 1 activity in patients with gestational diabetes(Acta Medica Mediterranea, 2013) Atay A.E.; Sakar M.N.; Culcu N.S.N.; Simsek H.; Akbas H.; Acar M.; Isik B.Material and methods: Sixty five patients with GDM and 66 healthy pregnants were enrolled. Paraoxonase activity, insulin levels, HOMA-IR, demographic features and anthropometric measurements were evaluated. Results: The mean paraoxonase activity was significantly diminished in patients with GDM (p:0,004). Insulin level and HOMA-IR were significantly higher in GDM patients (p:0,004 and p:0,001; respectively). The mean interval between present and previous pregnancy was significantly shorter in patients group (p:0,004). There was a significant correlation between PON1 activity and serum LDL, HDL levels and weight gained during pregnancy (p:0,001,p<0,001 and p:0,002; respectively) but not with weight and parity. However HOMA-IR was significantly correlated with weight and parity (p:0,001 and p:0,002; respectively). Discussion: Diminished PON1 activity and enhanced oxidative stress accompany to insulin resistance in the pathogenesis of GDM. Oxidative stress is associated with weight gained during first 2 trimesters of pregnancy rather than obesity.