Publications by authors named "Natsumi Fujiyama"

Cardiomyopathy is a rare but serious complication associated with neuroblastoma. The brain natriuretic peptide level led to a diagnosis of secondary dilated cardiomyopathy before the worsening of heart failure symptoms.

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Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule therapy. The efficacy of these therapies varies depending on the timing of treatment initiation.

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Article Synopsis
  • Spinal muscular atrophy (SMA) is a serious disease that leads to muscle weakness and atrophy due to the loss of specific nerve cells in the spinal cord.
  • Effective treatments like gene therapy need to begin before symptoms appear, which is why newborn screening (NBS) for SMA is important and implemented in many countries, including Japan.
  • In Japan, the NBS program started in February 2021, screening over 13,000 newborns and detecting one case of SMA, highlighting the program's potential impact and the need for continued discussion on future improvements.
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