[Effects of TNF-α on ICAM-1 and LFA-1 expression in peripheral blood mononuclear cells of children with febrile seizures].

Objective: To study the effects of TNF-α on ICAM-1 and LFA-1 expression in peripheral blood mononuclear cells (PBMC) of children with febrile seizures (FS).

Methods: Sixteen children with FS and 16 age- and gender-matched healthy children were enrolled. The samples of PBMC from FS children were randomized into two groups with or without TNF-α treatment (TNF-α concentration 1.

[Hypersensitivity syndrome reactions to antiepileptic drugs, clinical characteristic and association with HLA-B*1502].

Objective: To investigate the cutaneous adverse reactions to antiepileptic drugs (AEDs), clinical characteristic and the association with HLA-B*1502.

Methods: A retrospective analysis of four cases of antiepileptic drug hypersensitive syndrome (AHS) were performed on the basis of clinical data, cutaneous adverse reactions to carbamazepine (CBZ) (n = 2) including Stevens-Johnson syndrome (SJS) (n = 1) and hypersensitivity syndrome (HSS) (n = 1); phenobarbital-induced HSS (n = 1) and oxcarbazepine (OXC)-induced HSS (n = 1). All patients received the examinations of polymerase chain reaction (PCR) with sequence specific primers to analyze HLA-B*1502.

Polyglutamine-expanded ataxin-7 decreases nuclear translocation of NF-kappaB p65 and impairs NF-kappaB activity by inhibiting proteasome activity of cerebellar neurons.

Our recent study indicated that polyglutamine-expanded ataxin-7-Q75 induced apoptotic death of cultured cerebellar neurons by downregulating Bcl-x(L) expression and activating mitochondrial apoptotic cascade. Mutant polyglutamine-expanded proteins are believed to impair the proteolytic function of ubiquitin-proteasome system by sequestering components of proteasomes. Proteasome degradation of IkappaBalpha permits nuclear translocation of NF-kappaB and is required for continuous NF-kappaB activity, which supports the survival of cultured cerebellar neurons by inducing Bcl-x(L) expression.

Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L).

Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder caused by polyglutamine-expanded ataxin-7. In the present investigation, we expressed disease-causing mutant ataxin-7-Q75 in the primary neuronal culture of cerebellum with the aid of recombinant adenoviruses. Subsequently, this in vitro cellular model of SCA7 was used to study the molecular mechanism by which mutant ataxin-7-Q75 induces neuronal death.