Search

Subacute sclerosing panencephalitis (SSPE) is a degenerative disease of the brain caused by a persistent measles virus infection occurring mostly in childhood or early adolescence. The spectrum of epileptic phenomena associated with SSPE is wide, varying from partial or generalized tonic-clonic seizures and atypical absences to myoclonic-atonic attacks. Tonic seizures are very rare in SSPE.Herein, we discuss a case of 25 years old male that presented with adult-onset SSPE with tonic seizures accompanying myoclonic seizures.Patient was treated with clonazepam 5 mg/day and an isoprinosine regimen with a dose of 70 mg/kg/day. This is the fourth case of SSPE presenting with myoclonic and tonic seizures and the first case of SSPE with myoclonic and tonic seizures reported in an adult-onset case in the English literature.Adult-onset SSPE with tonic seizures is rare and may be confusing, thus, it is important to recognize the presence of this type of tonic motor seizures in SSPE patients.

Objective: Obstructive sleep apnea syndrome (OSAS) is a disorder characterized by partial or complete narrowing of the pharyngeal airway during sleep. In this study it was aimed to investigate the relation between OSAS and different variants of the ApoE gene, and to identify other risk factors that may affect the development of the disease. Materials and Methods: Fifty-two patients with OSAS and 50 healthy volunteers were enrolled into the study. After collecting the necessary information associated with OSAS from the individuals, DNA was isolated from blood. ε2, ε3 and ε4 variants of Apolipoprotein E (ApoE) gene were investigated using real-time polymerase chain reaction. Results: When the groups were compared with each other, age, body mass index, total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein, triglyceride, neck circumference, waist circumference, apnea hypopnea index, Epworth sleepiness scale, smoking, and daytime sleepiness were found statistically significant. The ε2 variant was found statistically high in the control group. Also, waist circumference, triglyceride and LDL levels were found statistically low in individuals with the ε2 genotype. In addition, triglyceride levels were found statistically high in individuals with the ε4 genotype. Conclusion: The presence of the ε2 variant in healthy individuals may have a protective effect against OSAS. In addition, the relation between different variants of ApoE with LDL and triglyceride levels demonstrates the overlap of genotype and phenotype data

Abstract. Observational studies performed in homogeneous groups to objectively investigate the cause and effect relationship between vitamin D deficiency and sleep disorders are scarce. In this study, it was aimed to analyze the relationship between the severity of OSAS and vitamin-D levels among the participants whose features affecting serum vit-D levels were minimised. Serum 25-OH vitamin-D levels in 121 OSAS Male patients diagnosed by polysomnography without any systemic disease or vitamin-D supplement that may effect the vitamin-D metabolism were measured. The study was conducted in winter (latitude: 41°). Anthropometric measures and biochemical tests were also performed. The distribution of vitamin-D levels was determined as severe deficiency, deficiency, insufficiency and sufficiency. Apnea-hypopne index (AHI)

Obstructive sleep apnea syndrome (OSAS) is a highly prevalent disorder which results in markedly reduced (hypopnea) or absent (apnea) airflow at the nose/mouth. Since vitamin D deficiency has found in an association with some disorders it is thought to be related with OSAS progression. The aim of this study is to investigate the association between VDR, VDBP mutations, vitamin D level and some environmental risk factors with OSAS. Fifty individuals who were diagnosed as OSAS were selected as patients, 50 healthy volunteers without any disease were selected as controls. FokI (rs2228570) and BsmI (rs1544410) mutations in VDR; rs4588 and rs7041 mutations in VDBP were investigated with quantitative real-time polymerase chain reaction (qPCR). Other risk factors were also investigated. Results were evaluated statistically. Statistically significant differences were observed according to the baseline characteristics between the groups, When groups were compared with each other, CA genotype in rs4588, CC genotype in rs2228570 and AA genotype in rs1544410 mutations were found statistically significant in patients whereas TC genotype in rs2228570 and GA genotype in rs1544410 mutations were found statistically significant in controls. When the relation between risk factors and genotypes were investigated, statistically significant associations were detected for body mass index (BMI), waist circumference, Apnea–Hypopnea Index (AHI), excessive daytime sleepiness (EDS), vitamin D and triglyceride levels. VDR and VDBP mutations were found highly related with OSAS. Possible tracking of these mutations and risk factors may help to understand the metabolism as well as the progression of the disease.