RESUMO
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) can occur at any age and are commonly caused by adverse drug events. Rapid diagnosis of SJS/TEN is imperative, followed by immediate cessation of offending agent and induction of appropriate treatment. Cyclosporine, a calcineurin inhibitor, has been reported to have a promising therapeutic effect in SJS/TEN patients with few side effects. Diagnosis of SJS/TEN in children is especially challenging as many of the symptoms mimic that of an upper respiratory infection, or other viral entities such as cocksackie A, roseola, or herpes simplex virus. We recommend initiating cyclosporine modified treatment, especially in children, upon any suspicion of SJS/TEN in a patient in order to halt the disease progression as early as possible.
RESUMO
Schizophrenia (SCZ) is a common, disabling mental illness with high heritability but complex, poorly understood genetic etiology. As the first phase of a genomic convergence analysis of SCZ, we generated 16.7 billion nucleotides of short read, shotgun sequences of cDNA from post-mortem cerebellar cortices of 14 patients and six, matched controls. A rigorous analysis pipeline was developed for analysis of digital gene expression studies. Sequences aligned to approximately 33,200 transcripts in each sample, with average coverage of 450 reads per gene. Following adjustments for confounding clinical, sample and experimental sources of variation, 215 genes differed significantly in expression between cases and controls. Golgi apparatus, vesicular transport, membrane association, Zinc binding and regulation of transcription were over-represented among differentially expressed genes. Twenty three genes with altered expression and involvement in presynaptic vesicular transport, Golgi function and GABAergic neurotransmission define a unifying molecular hypothesis for dysfunction in cerebellar cortex in SCZ.