Yazar "Eyuboglu, Ilker" seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • Küçük Resim
    Öğe
    Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient
    (2020) Dikbas, Oguz; Torun, Deniz; Ilgezdi, Irem; Eyuboglu, Ilker; Unlu, Burcu
    Cerebrotendinous xanthomatosis (CTX) is a rare genetic metabolic disorder that inherited in an autosomal recessive trait; characterized by abnormal lipid storage. CTX is characterized by infantile or early childhood onset of chronic diarrhea, tendon xanthomas (especially in the achilles tendon), cataracts, and neurological symptoms such as cognitive impairment, pyramidal, extrapyramidal and cerebellar signs, seizures, peripheral neuropathy that appear in the second or third decades of life. A thirtynine years old Turkish female patient admitted to the Neurology outpatient clinic with the complaint of increasing dizziness and walking difficulty in recent years. She had an operation for both achilles tendon xanthomas and juvenile cataract. Her neurological symptoms and cranial magnetic resonance imaging (MRI) findings were consistent with cerebrotendinous xanthomatosis. A novel homozygous splicing site mutation (IVS8+2T>C, c.1476+2T>C, NM_000784.3) in CYP27A1 gene was detected. This is the first CTX related mutation reported in the literature.
  • Küçük Resim
    Öğe
    Ovarian masses in children: A single center’s experience
    (2020) Yalcin Comert, Hatice Sonay; Eyuboglu, Ilker; Ersoz, Safak; Akdogan, Ali; Imamoglu, Mustafa; Sarihan, Haluk
    Aim: Although ovarian masses are rare in children, they differ forevery age group. We aimed to evaluate the management of patients diagnosed with ovarian masses in our clinic. Material and Methods: The medical records of patients (age ≤ 18) who underwent operations for ovarian masses during the period 2009-2019were evaluated retrospectively. Demographic findings, presenting symptoms and signs, the results of radiological examinations, mass locations and sizes, tumor markers, histopathological diagnoses and cases’surgical intervention were recorded.Results: The study included 51 patients with a total of 54 surgical interventions. There was a significant difference between tumor size and pathological diagnosis (p0.048) between the pathological diagnosis and the surgical intervention for patients who required oophorectomy and did not require oophorectomy (p=0.02) and presenting symptoms and signs with pathological diagnoses (p=0.027). We found no difference in the patients’ age of presentation and the pathological diagnoses (ovarian torsion, neoplastic or non neoplastic lesions) (p=0.542). We also found no difference between tumor markers and pathological diagnoses (p=0.253 for CEA, p=0.345 for αFP and p=0.129 for βHCG) or mass location (right or left side) with the pathological diagnoses (p=0.246).Conclusion: : Ovary preservation surgery is important for ovarian masses in children, and we must be careful when performing surgery on these patients.