Publications by authors named "Y Nawa"

The recent publication entitled "Possible zoonotic implications of the discovery of the advanced third stage larva of (Spirurida: Gnathostomatidae) in a Mexican fish species" by Mosqueda-Cabrera ., appeared in Helminthologia, 2023; 60(1): 112-116. was extremely interesting and informative showing potential zoonotic natue of .

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  • The study aimed to explore the genetic basis and pathogenic variants associated with autism spectrum disorder (ASD) by performing whole-genome sequencing on 57 Japanese ASD patients and their parents.
  • Researchers identified potentially pathogenic variants in about 31.6% of the patients, with a higher rate (43.5%) among those with comorbid intellectual developmental disorder (IDD), highlighting specific genes like PTEN and CHD7 linked to recognized ASD phenotypes.
  • The findings emphasize the importance of understanding the genetic underpinnings of ASD to aid in clinical diagnosis and treatment, though no significant results were found regarding short tandem repeats or polygenic risk scores.
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  • The study investigates the effectiveness of testing cerebrospinal fluid (CSF) for anti-HTLV-1 antibodies in diagnosing HTLV-1-associated myelopathy (HAM), highlighting the diagnostic accuracy of various test kits.
  • It found that while CSF antibody levels were stable when refrigerated, they were affected by freeze-thaw cycles, leading to strong correlations in test results across different methods used on samples from 92 patients (69 with HAM, 23 carriers).
  • The results showed high diagnostic performance for HAM, with five test kits achieving 100% sensitivity and varying specificity, suggesting that these tests combined with clinical evaluation can improve HAM diagnosis.
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  • - The study investigates the link between rare copy number variations (CNVs) in synaptic genes and bipolar disorder (BD) in a Japanese population, using genome hybridization techniques on nearly 2,000 BD patients and 2,760 controls.
  • - Results indicate a strong association between the RNF216 gene and BD, with significant findings also related to postsynaptic membrane components, suggesting these genetic factors contribute to BD risk.
  • - The findings enhance understanding of BD's genetic underpinnings, highlighting the importance of CNVs in gene regions that may influence the disorder's development.
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  • Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (CMs) are important for drug testing and heart failure treatment, making their quality and maturation essential for large-scale production.
  • The study utilized label-free Raman microscopy to analyze the molecular profiles of hiPSC-CMs, focusing on correlations between features like cytochrome and myoglobin with the cells' purity and maturity.
  • Results demonstrated that Raman spectroscopy can effectively distinguish between mature and immature CMs, indicating it as a valuable tool for assessing cardiac cell development and quality.
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