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Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults and is caused by NOTCH3 variants. Clinical manifestations of CADASIL include recurrent ischemic strokes, dementia, migraine or migraineous headaches, epileptic seizures, and psychiatric disorders. The clinical-radiological phenotype of the disease is also highly variable. In this study, we investigated the variability of clinical, radiological, and genetic data in patients analyzed for NOTCH3 variant in our clinic. Methods: We performed clinical and neuropsychological examination, cerebral magnetic resonance imaging (MRI) and Doppler sonography of cerebral arteries in all patients. Next-generation sequencing test was used for detect variants in NOTCH3 gene from all CADASIL patients. Results: By using the next-generation sequencing method, heterozygous c.380C>T pathogenic variant was detected in the 4th exon of the NOTCH3 gene in 3 patients. This is a previously unreported novel variant and resulted in the replacement of the amino acid Proline at 127th position with Leucine. Discussion and Conclusion: The discovery of this novel pathogenic variant region may contribute to the expansion of the clinical and genetic spectrum of diseases associated with NOTCH3, leading to further research and treatment options for this disease in the future.
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The aim of this study was to investigate the additional effect of transcutaneous electrical nerve stimulation (TENS) on the control of the symptoms of restless legs syndrome (RLS). A total of 46 randomly selected patients diagnosed with RLS were divided into two groups in a single-blind study to either receive pramipexole (0.25 mg daily) plus 10 sessions of TENS or only pramipexole (0.25 mg daily) for 4 weeks. The severity of the symptoms was determined according to the International Restless Legs Syndrome Rating Scale (IRLSRS) and the Pittsburgh sleep quality index (PSQI) at the beginning of the treatment, post-treatment, and at an 8 week follow-up. A significant time interaction was observed between the groups for all measurement outcomes, revealing differences in favour of the experimental group's IRLSRS and PSQI scores. A notable improvement was also observed in the IRLSRS and PSQI scores in both groups at the end of treatment and during the 8 week follow-up period. In comparison with pramipexole monotherapy, the results of this study showed that the use of TENS therapy combined with a low dose of pramipexole (0.25 mg daily) is therapeutically beneficial in the treatment of RLS over an 8 week follow-up period.
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Objective: Ischemia and inflammation play a role in the pathophysiology of Alzheimer's disease (AD). Plasma neutrophil-lymphocyte ratio (NLR), and 25- hydroxyvitamin D (vitamin D) were used as a biomarker for inflammation and atherosclerosis. The present study aimed to investigate a link between NLR, vitamin D and ischemia in AD. Methods: The subjects with AD and control groups were enrolled to this retrospective study between 2017-2022 at Cukurova University Hospital. The cognitive assessment (MMSE), and blood tests (NLR, vitamin D) were collected from all subjects. In first part of the study, AD (n:132) and the control group (n:38) were compared. In second part of the study, magnetic resonance imaging (MRI) was used for evaluating ischemic lesions with scoring method of Fazekas. The control group (n:38) and AD subjects with mild ischemic lesions (Fazekas-1 and Fazekas-2) (n:64) were excluded. AD subjects with severe ischemic lesions (Fazekas-3) (n:34) and without ischemic lesions (Fazekas-0) (n:34) were compared again. SPSS 20.0 was used for all analyses. The threshold for statistical significance was set at 0.05. Results: In the first part of the study, 132 AD patients (69 female and 63 male; mean age 70.83±9.35 (49-87) and age-matched 38 controls were compared. The mean NLR in AD [2.96±2.46 (1.17-19.43)] was higher than the control group [1.9±0.66 (0.9-3.56)] (p=0.005). In the second part of the study, the mean Vitamin D of Fazekas-3 AD group [16.15±9.64 (4.7-35)] was lower than Fazekas-0 AD group [16.27±6.81(4.6-29.7)] (p=0.024). Conclusion: NLR was higher in AD while there was no difference between the Fazekas-0 and Fazekas-3 AD groups. Vitamin D was lower in the Fazekas-3 AD group. These data suggested that NLR increased independently of ischemia in AD. Also vitamin D deficiency could trigger ischemia in AD.
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OBJECTIVE: To assess the prevalence of seizure, associated risk factors, and prognosis in patients with SARS-CoV-2 infection and identify predictive biomarkers in SARS-CoV-2 patients with seizure. METHODS: A cohort of 17,806 patients with SARS-CoV-2 infection admitted to two university hospitals in Adana between March 11, 2020 and January 1, 2021 was analyzed retrospectively. The patients' demographic characteristics, laboratory findings, and systemic and neurological symptoms at admission and on the day of seizure onset were evaluated. RESULTS: Neurological findings were detected in 877 of the 17,806 patients. Of these, 45 patients (0.25%) had seizure (status epilepticus in 4/45 patients, 8.9%). Patients with seizure had a mean age of 55.3 years (range 17-88) and 57.8% were male. Seizure was more common in the 18-44 (24.4%) and ≥ 65 age groups (44.4%) and in those with multiple comorbidity. The case fatality rate for patients with seizure among all SARS-CoV-2 patients was 0.135% (95% CI 80.86-188.71). However, no patient with a previous diagnosis of epilepsy died during SARS-CoV-2 infection. High neutrophil, platelet, and ferritin levels and low lymphocyte and calcium levels on the day of seizure development compared to admission were associated with higher mortality (p = 0.004, 0.008, 0.028, 0003, and 0.002, respectively). CONCLUSIONS: Seizures are not uncommon during SARS-CoV-2 infection, with a higher risk of mortality in older patients and those with higher inflammatory markers.