Publications by authors named "T Okochi"
Article Synopsis
- - 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.
Article Synopsis
- * A study compared plasma fatty acid concentrations between people with BD (n=535) and healthy controls (n=107), finding significantly lower levels of linoleic acid and arachidonic acid in the BD group.
- * The presence of a specific gene variant (C-allele at rs174550) was linked to decreased levels of certain PUFAs, reinforcing the connection between FADS genes and the risk of developing BD.
Objectives: To assess whether the combination of biparametric magnetic resonance imaging with prostate-specific antigen density can properly stratify the risk of significant prostate cancer in patients undergoing prostate biopsies and how this approach affects the detection of prostate cancer during follow-up in patients who do not undergo prostate biopsy.
Methods: In total, 411 biopsy-naïve patients who had elevated prostate-specific antigen levels and then underwent biparametric magnetic resonance imaging for suspicious prostate cancer were analyzed: 203 patients underwent prostate biopsies, whereas 208 patients did not. Significant prostate cancer detection rates stratified by the combination of Prostate Imaging Reporting and Data System score and prostate-specific antigen density were assessed in patients who underwent prostate biopsies.
Article Synopsis
- The study investigates the differences and similarities in copy number variations (CNVs) related to bipolar disorder (BD), schizophrenia (SCZ), and autism spectrum disorder (ASD) using data from 8708 Japanese individuals.
- It reveals that BD has a greater burden of smaller exonic deletions, while SCZ and ASD show a prevalence of larger exonic CNVs, with notable differences in the effect sizes and distributions of these CNVs across disorders.
- Despite these differences, some shared molecular mechanisms, particularly in chromatin biology, were identified, and certain synaptic genes were linked to BD risk, suggesting potential pathways for further research into its causes.
Pharmacogenetics/pharmacogenomics have enabled the detection of risk of human leukocyte antigen (HLA) variants for clozapine-induced agranulocytosis/granulocytopenia (CIAG). To apply this evidence to the clinical setting, we compared the cost-effectiveness of the proposed "HLA-guided treatment schedule" and the "current schedule" being used in Japan and the United Kingdom (UK) (absolute neutrophil count (ANC) cutoff at 1500/mm); in the "HLA-guided treatment schedules," we considered a situation wherein the HLA test performed before clozapine initiation could provide "a priori information" by detecting patients harboring risk of HLA variants (HLA-B*59:01 and "HLA-B 158T/HLA-DQB1 126Q" for Japanese and Caucasian populations, respectively), a part of whom can then avoid CIAG onset (assumed 30% "prevention rate"). For the primary analysis, we estimated the incremental cost-effectiveness ratio (ICER) of "HLA-guided treatment schedule" and "current schedule" used in Japan and the UK, using a Markov model to calculate the cost and quality-adjusted life years (QALYs) over a 10-year time period.
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