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    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.
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    Subacute THYROiditis Related to SARS-CoV-2 VAccine and Covid-19 (THYROVAC Study): A Multicenter Nationwide Study
    (Endocrine Soc, 2023) Batman, Adnan; Yazici, Dilek; Dikbas, Oguz; Agbaht, Kemal; Saygili, Emre Sedar; Demirci, Ibrahim; Bursa, Nurbanu
    Context The aims of the study are to compare characteristics of subacute thyroiditis (SAT) related to different etiologies, and to identify predictors of recurrence of SAT and incident hypothyroidism. Methods This nationwide, multicenter, retrospective cohort study included 53 endocrinology centers in Turkey. The study participants were divided into either COVID-19-related SAT (Cov-SAT), SARS-CoV-2 vaccine-related SAT (Vac-SAT), or control SAT (Cont-SAT) groups. Results Of the 811 patients, 258 (31.8%) were included in the Vac-SAT group, 98 (12.1%) in the Cov-SAT group, and 455 (56.1%) in the Cont-SAT group. No difference was found between the groups with regard to laboratory and imaging findings. SAT etiology was not an independent predictor of recurrence or hypothyroidism. In the entire cohort, steroid therapy requirement and younger age were statistically significant predictors for SAT recurrence. C-reactive protein measured during SAT onset, female sex, absence of antithyroid peroxidase (TPO) positivity, and absence of steroid therapy were statistically significant predictors of incident (early) hypothyroidism, irrespective of SAT etiology. On the other hand, probable predictors of established hypothyroidism differed from that of incident hypothyroidism. Conclusion Since there is no difference in terms of follow-up parameters and outcomes, COVID-19- and SARS-CoV-2 vaccine-related SAT can be treated and followed up like classic SATs. Recurrence was determined by younger age and steroid therapy requirement. Steroid therapy independently predicts incident hypothyroidism that may sometimes be transient in overall SAT and is also associated with a lower risk of established hypothyroidism.