6 research outputs found
Interleukin-1 receptor antagonist and interleukin-1β-511 gene polymorphisms among Egyptian children with febrile seizures
No full textFebrile seizures (FSs) are the most common form of childhood seizures. The higher levels of pro-inflammatory cytokines in children may induce seizures, and alternatively, higher levels of anti-inflammatory cytokines may act as a defense mechanism against seizures. We aimed to investigate whether interleukin (IL)-1β-511 C/T (pro-inflammatory cytokine) (rs16944) and IL-1 receptor antagonist (IL-1Ra) (an anti-inflammatory cytokine) gene polymorphisms could be
used as markers for prediction of susceptibility to FSs. The current study included 22 patients with FSs and 22 normal control subjects. All patients were subjected to thorough history taking, full neurological examination, electroencephalography, and peripheral blood sampling for genotype analyses.
Detection of IL-1Ra gene polymorphisms was done using polymerase chain reaction (PCR), while a restriction fragment length polymorphism analysis of the PCR products was used for the detection of IL-1β-511 C/T gene polymorphisms. The mean age of onset of first febrile seizures was 15.7 months.
Eighteen (81.8 %) cases had the criteria of complex FSs. Frequencies of alleles C and T for IL-1β-511 were 26/44 and 18/44, respectively, in FS patients and 22/44 for both in the control subjects. The CC genotype was significantly more common in the FS patients than in the control group. The IL-1Ra-I homozygote was more frequent in patients with FSs than in healthy controls. The IL-1Ra homozygous I/I and IL-1β-511 CC gene polymorphisms are associated with a higher susceptibility to febrile seizures, which may be useful markers for predicting the development of febrile seizures
Seizures and intellectual outcome: Clinico-radiological study of 30 Egyptian cases of tuberous sclerosis complex
No full text
Carnitine deficiency in epileptic children treated with a diversity of anti-epileptic regimens
No full textAbstract Background Carnitine deficiency is relatively common in epileptic patients. The risk factors reported include the combination of valproic acid with other antiepileptic drugs (AEDs), young age, multiple neurologic disabilities, non-ambulatory status, and being underweight. Objectives To study the level of carnitine deficiency and its associated risk factors among a group of children with idiopathic epilepsy treated with different AEDs. Patients and methods Fifty children with idiopathic epilepsy and 40 age-matched controls were enrolled. For all, serum carnitine level was measured by enzyme-linked immune sorbent assay (ELISA). Results The mean carnitine level was lower in cases compared to controls (p = 0.04). Patients receiving monotherapy treatment had a high percentage of carnitine deficiency compared to controls (p = 0.04). Patients receiving valproate with other AEDs had a lower level of carnitine compared to controls (p = 0.03). The age of the patients, the duration of treatment, and the doses of different AEDs were not risk factors for carnitine deficiency. Conclusions Carnitine deficiency is common in our population, and the use of valproate with other AEDs is considered the most important risk factor for it in epileptic children
Prenatal genotyping of Gaucher disease in Egypt
No full textAbstractObjectiveTo use chorionic villi sampling (CVS) and amniocentesis to determine the genotyping of Gaucher Disease (GD) of fetuses of pregnant mothers who had a previous child affected by GD.MethodsThe study was conducted between January 2009 and December 2012. It included 42 pregnant women that gave informed written consent. Thirty mothers presented early so they underwent CVS at 10–12weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 14–16weeks. Strip assay for the identification of Glucocerebrosidase (GBA) gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction (PCR) and reverse hybridization.ResultsThe age of the studied pregnant women ranged from 19 to 26years. Consanguinity was present in 38 cases. Eighteen women were pregnant in affected fetuses. The results of genotyping revealed 15 cases were homozygous L444P/L444P and one case homozygous (N370s/N370s) while two cases were heterogeneous (L444P/D409H). Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P.ConclusionThis study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease. The study found out that the most common mutation was L444P/L444P
