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    Association Between Matrix Metalloproteinase-9 C-1562T Gene Polymorphism and Ischemic Stroke
    (Galenos Publ House, 2023) Kara, Ismail; Sipahi, Tammam; Sunal, Asli Sert; Yildiz, Mustafa; Guldiken, Baburhan
    Objective: Matrix metalloproteinases (MMPs) are calcium-dependent zinc-containing proteases containing more than 28 enzymes that cause the degrading of the extracellular matrix. Although MMPs play key roles in many biological processes, they influence some pathological processes such as ischemic stroke (IS). Among MMPs, the enzyme most associated with IS is the MMP9 enzyme. This study aimed to evaluate the effect of the C-1562T (rs3918242) gene polymorphism of MMP9 on the development of IS in Turkish patients living in the Trakya Region.Materials and Methods: Our study involved 60 patients with IS and 60 controls. The patients with IS were categorized according to the Trial of ORG 10172 in Acute Stroke Treatment classification of stroke subtypes, and MMP9 C-1652T gene polymorphism was identified using polymerase chain reaction, followed by restriction fragment length polymorphism using the Pael (SphI) restriction enzyme.Results: Genotypes were defined as CC, CT, and TT according to the presence of C and T alleles. No significant differences were identified in the genotype distribution and allele frequency of MMP9 C-1562T gene polymorphism between the patients with IS and controls.Conclusion: Our findings suggest that MMP9 C-1562T gene polymorphism is not associated with the risk of IS in Turkish patients living in the Trakya Region.
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    Fabry Disease Frequency Among Young Cryptogenic Stroke Patients in the City of Edirne, Turkey
    (Lippincott Williams & Wilkins, 2021) Guler, Sibel; Sunal, Asli Sert
    Background: We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD. Methods: Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. The screening was performed for alpha-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma alpha-galactosidase A activity. Results: Two proband cases were detected. The first proband patient was identified as having a 427G>A (rs 104894845) (p.A143T) hemizygous mutation along with his family; 3 patients were identified as having the same hemizygous mutation; and 6 patients were identified as having the same heterozygous mutations. The second proband patient was identified as having a c.352C>T (rs 148158093) (p.R118C) heterozygote mutation along with her family; 5 patients were identified as having the same heterozygote mutation; and 1 patient was identified as having the same hemizygous mutation. Our study identified the FD incidence as 3.27%. Conclusions: This research is just one of a few studies conducted on FD screening studies in Turkish stroke patients. Our results underlined the importance of considering FD during the etiologic evaluation of young cryptogenic stroke patients, as it is a rare but potentially treatable entity.
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    Late-Onset Generalized Myoclonic Seizure: Case Report
    (Kare Publ, 2021) Ozkan, Hulya; Guldiken, Baburhan; Cakar, Merve Melodi; Sunal, Asli Sert; Kehaya, Sezgin
    Most of the epileptic seizures that begin at an advanced age are focal onset seizures due to an underlying structural lesion. Generalized myoc-lonic seizures, usually seen in adolescence, are very rare in elderly patients without a history of epilepsy. In this study, we present a 60-year-old patient with generalized myoclonic seizures with electrophysiological findings. Because of the late-onset, myoclonic jerks were first evaluated with the diagnosis of non-epileptic psychogenic attack in an external health center. The patient was diagnosed with seizure recordings in Elec-troencephalography-video monitoring. The patient responded well to the antiepileptic treatment and became seizure-free.