Wos Açık Erişimli Yayınlar

Permanent URI for this collectionhttps://hdl.handle.net/11727/10754

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    Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child
    (2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021
    Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.
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    Evaluation of cortical thickness and brain volume on 3 Tesla magnetic resonance imaging in children with frontal lobe epilepsy
    (2020) Rahatli, Feride Kural; Sezer, Taner; Has, Arzu Ceylan; Agildere, Ahmet Muhtesem; 0000-0002-2278-1827; 0000-0003-4223-7017; 0000-0002-4226-4034; 31802343; AAJ-5931-2021; AAB-5802-2020; AAL-9808-2021
    Background Frontal lobe epilepsy (FLE) is the most common epilepsy syndrome in the pediatric population; however, brain magnetic resonance imaging (MRI) of the children with FLE is frequently normal. We use both cortical thickness and brain volume measurements to report on cortical changes in children with FLE. Our aim was to determine cortical thickness and brain volume changes on 3 Tesla MRI of children with FLE and normal brain magnetic resonance imaging. Methods Twenty-seven children with FLE and 27 healthy controls received brain magnetic resonance imaging. Cortical thickness and regional brain volumes were assessed using three-dimensional volumetric T1-weighted imaging and patients were compared with controls. Results In children with FLE, statistically significant (p < 0.05) cortical thinning were found in the bilateral middle frontal gyrus, bilateral occipitotemporal and medial lingual gyrus, left subcallosal gyrus, left short insular gyrus, and right long insular gyrus. Statistically significant volume reductions in right and left hemisphere cortical white matter, total cortical white matter, bilateral thalamus, bilateral putamen, bilateral globus pallidus, right caudate nucleus, brain stem, and right cerebellar cortex were found. Conclusion Cortical thinning in frontal and extra-frontal lobes and volume loss in a variety of brain regions were found in children with FLE.