Publications by authors named "Hidetaka Akiyoshi"
Article Synopsis
- Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic condition caused by a mutation in the lamin-A gene, leading to accelerated aging and distinct physical features.
- Affected individuals, like the reported 9-year-old boy, can suffer serious health issues such as cerebral infarction due to vascular problems, despite having normal telomere lengths.
- Early diagnosis is crucial, and genetic testing can help identify HGPS in infants, potentially allowing for timely treatment options.
A novel alanine:glyoxylate aminotransferase (AGT) mutation involved in primary hyperoxaluria type 1 (PH1) was studied in Japanese patients. Two mutations in exon 7, c.751T>A and c.
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- - The study examines the survival and development outcomes of 11 infants diagnosed with different types of brain tumors before the age of one, revealing generally poor prognoses with only six surviving patients.
- - Surgical resection was performed on eight patients, with varying treatments including chemotherapy and radiotherapy, but five surviving patients showed signs of mental retardation.
- - The findings highlight that, while some infants survived for extended periods, they require ongoing medical and social support due to potential developmental issues stemming from their conditions.