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    EPR studies of gamma-irradiated L-alanine ethyl ester hydrochloride, L-arginine and alanyl-L-glutamine
    (Taylor & Francis Ltd, 2008) Aydin, Murat; Baskan, M. Halim; Yakar, Sedat; Ulak, F. Sadan; Aydinol, Mahmut; Aydinol, Belkis; Bueyuem, Muharrem
    gamma-Irradiated powders of L-alanine ethyl ester hydrochloride (LAES), L-arginine (LA) and alanyl L-glutamine (ALG) were investigated at room temperature by electron paramagnetic resonance (EPR). The observed species in LAES and LA are attributed to the CH3CHCOOC2H5 and CH2CHNHCNHNH2 radicals, respectively. In the case of ALG, the EPR signal is attributed to the CH2CNHCOOH. Hyperfine structure constants and g-values are determined for these three radicals. It is found that these results are in good agreement with those of previous experimental and theoretical studies. The unirradiated samples were found to display no EPR signal.
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    Presentation of a case with C282Y mutation detected in HFE gene and research of HFE gene mutation frequency in patient's family
    (Walter De Gruyter Gmbh, 2014) Aydinol, Belkis; Yilmaz, Sedat; Genc, Sedat; Aydinol, Muhammet Mustafa
    Introduction: In this study we present a 55-year-old male patient (index case) who came to Dicle University and detected to have a homozygous C282Y mutation. His family and close relatives were also evaluated for the same reason as it is a rare mutation. Patient and Method: We have evaluated ALT, AST, Fe, TIBC, ferritin, %TS parameters of the patient, his family, and the close relatives. Hemochromatosis mutations in HFE gene detected with Real-Time-PCR. Result: 34 relatives of the patient were evaluated upon detection of homozygous C282Y mutation in index case. Ferritin level was 7134 ng/mL in index patient. Hepatomegaly and excess iron in liver was detected. It was learned that patient was discharged from internal diseases department by phlebotomy recommendation. In 17 relatives of the patient heterozygous C282Y mutation, in four of them heterozygous H63D mutation was detected. In two cases homozygouse C282Y mutation was detected. Conclusion: HFE gene mutation survey causing hereditary hemochromatosis is very rare in Turkey. For the first time, HFE gene mutations were encountered in a family living in Black Sea region and rare C282Y mutation was detected. In this study a second extended family focus with frequent HFE gene mutation was discovered in a village with high frequency of endogamy in Diyarbakir region. Necessary attempts were made especially for close surveillance of the two patients carrying C282Y homozygous gene mutation. We concluded that biochemical and genetic surveys and genetic consulting are important for public health.
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    Öğe
    A Rare Cause of Protrusio Acetabuli: Osteoporosis Associated with Collagen Type 1 Alpha 1 Gene Polymorphism
    (Galenos Yayincilik, 2014) Oktayoglu, Pelin; Aydinol, Belkis; Caglayan, Mehmet; Bozkurt, Mehtap; Nas, Kemal
    Protrusio acetabuli (PA) is a rare cause of hip pain which manifests itself in the radiological investigation as intrapelvic protrusion of the acetabulum. It may be caused by a variety of etiopathogenetic factors. In this article, we aimed to present a-20-year-old young patient who presented to our outpatient clinic with complaints of bilateral hip pain, was diagnosed with PA in hip joints caused by primary osteoporosis and was shown to have polymorphism within the Collagen type 1 alpha 1 (COL1A1) Sp1-binding site by osteoporosis gene analysis.