Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Background: Women who receive negative results from non-invasive prenatal genetic testing (NIPT) may find that they later have mixed or ambivalent feelings, for example, feelings of accepting NIPT and regretting undergoing the test. This study aimed to investigate the factors generating ambivalent feelings among women who gave birth after having received negative results from NIPT. Methods: A questionnaire was sent to women who received a negative NIPT result, and a contents analysis was conducted focusing on ambivalent expressions for those 1562 women who responded the questionnaire. The qualitative data gathered from the questionnaire were analyzed using the N-Vivo software package. Results: Environmental factors, genetic counseling-related factors, and increased anticipatory anxiety, affected the feeling of ambivalence among pregnant women. Furthermore, pregnant women desired more information regarding the detailed prognosis for individuals with Down syndrome and living with them and/or termination, assuming the possibility that they were positive. Conclusions: Three major interrelated factors affected the feeling of ambivalence in women. Highlighting and discussing such factors during genetic counseling may resolve some of these ambivalences, thereby enhancing the quality of decisions made by pregnant women

Integrated genetic and clinical prognostic factors for aggressive adult T-cell leukemia/lymphoma

成人T細胞白血病リンパ腫（ATL）におけるゲノム情報と臨床情報を統合したリスクモデルを確立 --ATLの個別化医療を推進--. 京都大学プレスリリース. 2023-04-10.The prognosis of aggressive adult T-cell leukemia/lymphoma (ATL) is poor, and allogeneic hematopoietic stem-cell transplantation (allo-HSCT) is a curative treatment. To identify favorable prognostic patients after intensive chemotherapy, and who therefore might not require upfront allo-HSCT, we aimed to improve risk stratification of aggressive ATL patients aged <70 years. The clinical risk factors and genetic mutations were incorporated into risk modeling for overall survival (OS). We generated the m7-ATLPI, a clinicogenetic risk model for OS, that included the ATL prognostic index (PI) (ATL-PI) risk category, and non-silent mutations in seven genes, namely TP53, IRF4, RHOA, PRKCB, CARD11, CCR7, and GATA3. In the training cohort of 99 patients, the m7-ATLPI identified a low-, intermediate-, and high-risk group with 2-year OS of 100%, 43%, and 19%, respectively (hazard ratio [HR] 5.46, p < 0.0001). The m7-ATLPI achieved superior risk stratification compared to the current ATL-PI (C-index 0.92 vs. 0.85, respectively). In the validation cohort of 84 patients, the m7-ATLPI defined low-, intermediate-, and high-risk groups with a 2-year OS of 81%, 30%, and 0%, respectively (HR 2.33, p = 0.0094), and the model again outperformed the ATL-PI (C-index 0.72 vs. 0.70, respectively). The simplified m7-ATLPI, which is easier to use in clinical practice, achieved superior risk stratification compared to the ATL-PI, as did the original m7-ATLPI; the simplified version was calculated by summing the following: high-risk ATL-PI category (+10), low-risk ATL-PI category (−4), and non-silent mutations in TP53 (+4), IRF4 (+3), RHOA (+1), PRKCB (+1), CARD11 (+0.5), CCR7 (−2), and GATA3 (−3)

外来化学療法を受けているがん患者の就労状況の違いによるストレスとコーピング

社会医療法人愛仁会高槻病院京都府立医科大学大学院保健看護学研究科京都府立医科大学附属病院看護部Takatsuki General HospitalGraduate School of Nursing for Health Care Science, Kyoto Prefectural University of MedicineDepartment of Nursing, Kyoto Prefectural University of Medicine Hospital本研究の目的は外来化学療法中のがん患者が抱くストレスとそのコーピングの就労状況による違いを明らかにすることである。研究方法はがんと診断されて3か月経過した外来化学療法を受けている20～64歳のがん患者116名を対象に質問紙調査を行った。有効回答が得られた110名（有効回答率：94％）を分析対象とした。がん患者の平均年齢±SDは54.8±7.6歳であり、男性42.7％、既婚者が80.0％、同居家族がいる患者は87.3％であった。現在就労中は49.1％であり、休職中は19.1％、未就労は31.8％であった。がん患者のストレスを示す気がかり評定尺度（CCRS）の合計得点の平均値では、就労中30.39±7.30、休職中34.76±8.12、未就労34.94±10.31 で有意差（p<0.05）が認められた。多重比較では、未就労は就労中と比べて有意に高かった。CCRSの下位尺度では、日常生活の再構成の項目で休職中が就労中に比べて有意に（p ＜ 0.05）高かった。下位尺度の自己存在では未就労が就労中に比べて有意に（p<0.01）高かった。就労状況別のコーピングを示すがんに対する心理適応評価尺度（MAC）の下位尺度の絶望的な態度の項目では未就労が就労中に比べて有意に（p ＜ 0.01）高かった。以上のことから、休職中のがん患者はストレスが高く、日常生活の再構成の難しさを感じており、未就労患者は自己存在を脅かされ、絶望的な態度に陥る可能性があることが明らかとなった。これら就労状況による違いを踏まえて、休職中の患者へは日常生活の再構築を手助けし、未就労者には一人で抱え込まないような支援の必要性が示唆された

BioHackathon series in 2011 and 2012: penetration of ontology and linked data in life science domains

The application of semantic technologies to the integration of biological data and the interoperability of bioinformatics analysis and visualization tools has been the common theme of a series of annual BioHackathons hosted in Japan for the past five years. Here we provide a review of the activities and outcomes from the BioHackathons held in 2011 in Kyoto and 2012 in Toyama. In order to efficiently implement semantic technologies in the life sciences, participants formed various sub-groups and worked on the following topics: Resource Description Framework (RDF) models for specific domains, text mining of the literature, ontology development, essential metadata for biological databases, platforms to enable efficient Semantic Web technology development and interoperability, and the development of applications for Semantic Web data. In this review, we briefly introduce the themes covered by these sub-groups. The observations made, conclusions drawn, and software development projects that emerged from these activities are discussed

Phosphatidylinositol-3 kinase-Akt-mammalian target of rapamycin signaling pathway mediates contractility of human endometriotic stromal cells: A promising new target for the treatment of endometriosis-associated fibrosis

Objective: To assess the involvement of phosphatidylinositol-3 kinase (PI3K)-Akt-mammalian target of rapamycin (mTOR) on the extracellular matrix contractility of endometriotic cells. Materials and methods: The effects of wortmannin, LY294002, Akt inhibitor IV, and Ku-0063794 on the contractility of endometriotic cyst stromal cells (ECSCs) were investigated using collagen gel contraction assay. Results: All four inhibitors of PI3K-Akt-mTOR evaluated in the current study significantly inhibited the contractility of ECSCs. Conclusion: The current findings suggest that the PI3K-Akt-mTOR signaling pathway is involved in the development of endometriosis-associated fibrosis. The PI3K-Akt-mTOR signaling pathway is a promising target for the treatment of endometriosis