Hashimoto's encephalopathy is a rare neurologic disease, associated with elevated titers of antithyroid antibodies and acute encephalopathy.It presents with various clinical manifestations, including behavioral and cognitive changes, seizures, pyramidal tract dysfunction, involuntary movements, and cerebellar signs.Steroids are the first-line treatment and other options are immunoglobulins and plasmapheresis.We described symptoms and outcomes on teenage-girl with steroid-resistant hashimoto's encephalopathy who showed remarkable improvement with plasmapheresis..
This study was done to evaluate the efficacy of anti-tumor necrosis factor alpha (anti-TNF-α) antibody as an adjunctive therapy in neonatal bacterial meningitis. Newborn piglets were divided into three groups: 8 in the control group, 13 in the meningitis group (MG), and 10 in the meningitis with anti-TNF-α antibody group (AG). Meningitis was induced by intracisternal injection of 10<sup>8</sup> colony-forming units of <i>Escherichia coli</i> in 100 μl of saline. In the AG, 200 μl of anti-TNF-α antibody was also given intracisternally. In the AG, the elevated cerebrospinal fluid TNF-α level observed in the MG was completely abolished, and increased intracranial pressure, hypoglycorrhachia, and CSF pleocytosis observed in the MG were downmodulated. But blood, brain, and CSF lactate levels remained elevated in both MG and AG. Increased brain cell membrane lipid peroxidation products and decreased Na<sup>+</sup>,K<sup>+</sup>-ATPase activity observed in the MG were not attenuated in the AG. These results indicate that anti-TNF-α antibody was not particularly effective as an adjunctive therapy in attenuating acute inflammatory responses and ameliorating brain damage in neonatal bacterial meningitis.
Background and Purpose: Rufinamide (RUF) is a novel antiepileptic drug (AED) and its efficacy has been proven in Lennox-Gastaut syndrome (LGS).However, there is a lack of data regarding the efficacy in pediatric intractable epilepsies other than LGS.The purpose of the study was to explore the efficacy and tolerability of RUF in pediatric patients with intractable epilepsies as well as LGS.Methods: This retrospective observation study was conducted in Samsung medical center from August 2010 to September 2011.Thirty seven patients (27 males, 10 females, aged between 1.8 and 18.4 years), with refractory epilepsies or LGS were treated with RUF as an adjunctive drug.Efficacy was represented by the response rate and retention rate over the study period.Tolerability was measured as the number of patients who showed adverse effects. Results:The overall response rate was 21.6% during the 12 months of the study period with 5.4% of seizure-free patients.The retention rate was 54% and ineffectiveness was the most common reason for discontinuation of RUF.The most common adverse effects were insomnia and somnolence.Conclusions: RUF may be considered to be an efficacious and safe AED for pediatric patients with intractable epilepsies as well as LGS.
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. We identified pathogenic variants according to the American College of Medical Genetics and Genomics guidelines and identified susceptibility variants using case-control association analyses and family analyses for familial cases. A total of 57 patients were enrolled, including 51 sporadic cases and 6 familial cases. Twenty-two pathogenic and likely pathogenic variants of 16 different genes were identified. CACNA1H was the most frequently observed single gene. Variants of voltage-gated Ca2+ channel genes, including CACNA1A, CACNA1G, and CACNA1H were observed in 32% of variants (n = 7/22). Analyses to identify susceptibility variants using case-control association analysis indicated that KCNMA1 c.400G>C was associated with common genetic generalized epilepsy syndromes. Only 1 family (family A) exhibited a candidate pathogenic variant p.(Arg788His) on CACNA1H, as determined via family analyses. This study identified candidate genetic variants in about a quarter of patients (n = 16/57) and an average of 2.8 variants was identified in each patient. The results reinforced the polygenic disorder with very high locus and allelic heterogeneity of common GGE syndromes. Further, voltage-gated Ca2+ channels are suggested as important contributors to common genetic generalized epilepsy syndromes. This study extends our comprehensive understanding of common genetic generalized epilepsy syndromes.
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