Publications by authors named "Misa Miyake"
Article Synopsis
- GATA4 is linked to congenital heart disease and now recognized for its role in disorders of sexual development (DSD), particularly in a case of a 46,XY DSD patient with an atrial septal defect.
- A specific mutation (c.487C>T) was found to reduce transcriptional activity of downstream genes, showing that heart development may need stricter GATA4 regulation than testicular development.
- The study suggests that GATA4 variants exhibit a dominant-negative effect, impacting transcriptional activity when mixed with normal protein, and indicates that some pathogenic variants could also be found in healthy parents, hinting at a complex genetic threshold theory for these conditions.
The aim of this study was to determine whether human herpesvirus 6B (HHV-6B) infection can impair the hippocampus in pediatric hematopoietic stem cell transplant (HSCT) recipients. Study subjects were pediatric HSCT recipients monitored for HHV-6B infection who underwent brain MRI before and after transplantation. Volumetric analysis of the hippocampus was performed.
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- The study investigates complex febrile seizures in children, particularly the differences between those with and without primary human herpesvirus 6B (HHV-6B) infection.
- Out of 62 patients, 30 were found to have HHV-6B, and they were significantly younger compared to those without the infection, while there were more males in the non-infected group.
- Results indicate that the interval between fever onset and seizures was longer in the HHV-6B infected group, suggesting that the mechanism behind these seizures may be unique compared to other causes.
Article Synopsis
- A study in Japan aimed to analyze childhood arterial ischemic stroke (AIS) focusing on its clinical features and diagnosis timing, involving 40 children aged 29 days to 15 years from 2010-2014.
- The most common symptoms were paralysis or paresis, with significant delays in diagnosis; 27% of patients were diagnosed within 6 hours of symptoms appearing, but 54% took over 24 hours for radiological confirmation.
- The findings suggest a need for improved awareness among healthcare providers and the public about childhood stroke to facilitate quicker diagnosis and treatment.
Article Synopsis
- A study examined primary human herpesvirus-6B (HHV-6B) infections in children under 5 years who visited the emergency room from June 2014 to May 2016, enrolling a total of 491 febrile patients.
- Out of those, 12% were diagnosed with primary HHV-6B infection, showing significantly higher rates of febrile seizures, especially complex ones, in these patients compared to others.
- The study found that primary HHV-6B infections more commonly occurred in children younger than 2 years, with a median infection age of 15 months, and older patients tended to have fewer apparent symptoms.
Introduction: Mutations of the ATP1A3 gene are associated with a wide spectrum of neurological disorders including rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood (AHC). The genotype-phenotype correlations in these cases remain unclear however. We here report a pediatric case of catastrophic early life epilepsy, respiratory failure, postnatal microcephaly, and severe developmental disability associated with a novel heterozygous ATP1A3 mutation.
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