Background: Epidemiological research indicates that iron deficiency (ID) in infancy correlates with long-term cognitive impairment and behavioral disturbances, despite therapy. However, the mechanisms underlying these effects are unknown.
Objective: We investigated how ID affected postweaning behavior and monoamine concentration in rat brains to determine whether ID during the juvenile period affected gene expression and synapse formation in the prefrontal cortex (PFC) and nucleus accumbens (NAcc).
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is an X-linked disorder characterized by early-onset sensorineural hearing impairment, peripheral neuropathy, and progressive optic atrophy. It is caused by a loss-of-function mutation in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes isoform I of phosphoribosyl pyrophosphate synthetase (PRS-I). A decreased activity leads to nonsyndromic sensorineural deafness (DFN2), CMTX5, and Arts syndrome depending upon residual PRS-I activity.
View Article and Find Full Text PDFDysembryoplastic neuroepithelial tumors (DNT) are benign hamartomatous tumors characterized by intractable epilepsy and common localization in the supratentorial cortex, but thalamic involvement in DNT is extremely rare. A 2-year 4-month-old boy presented with intractable epilepsy due to a tumorous lesion in the frontal lobe expanding to the thalamus. Under chronic intracranial electrocorticography guidance, partial lesionectomy with adjacent cortical resection was performed, and the lesion was pathologically diagnosed as DNT, complex form.
View Article and Find Full Text PDFObjective: This study was undertaken to investigate the electroencephalographic (EEG) characteristics in patients with febrile status epilepticus.
Methods: Medical records and EEG findings were retrospectively examined in 14 patients with febrile status epilepticus, who were transferred to the Shiga University Hospital between November, 2009 and March, 2012.
Results: Mean time to the initial EEG examination from the cessation of febrile status epilepticus was 3.
Context: Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transient congenital hypothyroidism.
Objective: To clarify the inheritance of hypothyroidism, we looked at the DUOX2 gene in patients with transient congenital hypothyroidism.
Gram-negative bacteria with acquired metallo-beta-lactamase (MBL) resistance are being increasingly described worldwide. Here we report the first case of an outbreak by a cluster of genetically related strains of Klebsiella pneumoniae producing the IMP-1 MBL. Six isolates of K.
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