Cross-breed comparisons identified a critical 591-kb region for bovine carcass weight QTL (CW-2) on chromosome 6 and the Ile-442-Met substitution in NCAPG as a positional candidate

<p>Abstract</p> <p>Background</p> <p>Growth-related traits have been mapped on bovine chromosome 6 (BTA 6) in various bovine breed populations. We previously mapped a significant quantitative trait locus (QTL) for carcass and body weight (<it>CW-2</it>) between 38 and 55 cM on BTA 6 using a Japanese Black half-sib family. Additional QTL mapping studies detected four QTL for body or carcass weight that overlapped with <it>CW-2 </it>in Japanese Black and Japanese Brown half-sib families. To map the region in greater detail, we applied cross-breed comparisons of haplotypes that have been shown to be powerful in canine.</p> <p>Results</p> <p>We used 38 microsatellite markers to search for a shared <it>Q </it>(increasing carcass and/or body weight) haplotype within the 17-cM <it>CW-2 </it>region among five sires. Linkage disequilibrium mapping using maternal alleles of the offspring showed that an 815-kb shared <it>Q </it>haplotype was associated with body or carcass weight in both breeds. The addition of 43 single nucleotide polymorphism (SNP) markers narrowed the region to 591 kb containing 4 genes. The SNP changing Ile-442 to Met in <it>NCAPG </it>(chromosome condensation protein G) was significantly associated with carcass weight (<it>p </it>< 1.2 × 10^-11) in a large Japanese Black population as well as in the five families. The <it>Q </it>allele of the SNP was also associated with a larger longissimus muscle area and thinner subcutaneous fat thickness in steers of all five families, indicating that the <it>CW-2 </it>locus is pleiotropic and favorable for marker-assisted selection of beef cattle.</p> <p>Conclusion</p> <p>A 591-kb critical region for <it>CW-2 </it>was identified. The SNP changing Ile-442 to Met in <it>NCAPG </it>(chromosome condensation protein G) can be used as a positional candidate of <it>CW-2 </it>for marker-assisted selection.</p

キョウドウ カツドウ ヲ カッパツ ニ スル ドッカイ カダイ

本稿は、2023年度春～夏学期に大阪大学日本語日本文化教育センター（以下、CJLCとする）の上級日本語学習者を対象とした読解の授業報告である。授業は学習者の読解過程を可視化できるように、ピア・ラーニングを採用した。また、授業内の協働活動で行う課題は、学習者各自に事前にやってきてもらい、課題の答え合わせだけでなく、議論ができるように設問を工夫した。本稿はその中で取り扱った協働活動を３つ取り上げ、その様子を考察する。そして、学習者間の対話を促進させるためには、どのような課題が有効か、学習者の好奇心や探究心を刺激することが、どのように自律学習に繋がるか、という２つの観点から論じる。学習者は興味のある分野の課題を遂行する際には、知的好奇心を持って取り組み、それが学習のモチベーションにもなっていた。また、協働活動中のディスカッションも活発に行われていたことがわかった

ドウジ ソウホウコウ ガタ オンライン ジュギョウ ニ オケル キョウドウ カツドウ

本稿は、2021年秋～冬学期に大阪大学日本語日本語文化教育センターにおいて、JMFプログラムの中上級日本語学習者を対象に開講された「漢字・語彙」の実践報告である。本授業は、学生が対話を通して「主体的な学び」が得られるように、アクティブラーニング型で行った。また、新型コロナウィルス感染症拡大のため、同時双方型オンライン（Zoom）で実施した。本稿では、このZoomのブレイクアウトルーム（参加者をいくつかのグループに分ける機能）における協働活動を分析し、他者との対話を通して学生にどのような学びがあったのかを、相互行為の観点から分析、考察した。その結果、人間関係の構築に関わる他者への配慮や思いやり、他者の文化への興味・関心により深まった学び、宣言的知識につながった学び、既習知識が場面と繋がった学びが観察され、インターネットを介した協働活動でも、先行研究で報告されている対面授業と同様の効果があることがわかった。一方で、グループリーダーのあり方や、学生のモチベーションや深い学びに繋がるようなタスクの設問について、検討する必要性も明らかになった

Retinol Supplements Antiviral Action of Interferon in Patients with Chronic Hepatitis C: A Prospective Pilot Study

Sustained virologic response with peg-interferon and ribavirin combination therapy for 48 weeks is still inadequate. Our study examined whether short-term administration of retinol clinically influences the anti-viral activity of interferon early during interferon and ribavirin combination therapy. The control group received 6 MIU of interferon α-2b every day for two weeks and then 3 times a week for 22 weeks intramuscularly plus 600 mg or 800 mg per day of ribavirin orally for 24 weeks. The retinol group, in addition to above treatment, received retinol 30,000 units per day orally for 3 weeks from one week before the start of interferon α-2b plus ribavirin combination therapy. The hepatitis C virus (HCV) RNA negativity rate at 1 week after the end of interferon α-2b and ribavirin combination therapy was 46.7% (28/60) for the retinol group and 31.7% (19/60) for the control group, which was significantly higher for the retinol group. The level of serum HCV RNA in the retinol group was significantly lower at 1 week after beginning treatment as compared to the control group (p<0.01). Furthermore, serum 2,5'AS protein at 1 week after beginning treatment was significantly higher in the retinol group (p = 0.0002). The results suggest that retinol supplement increases the antiviral effect of interferon α-2b plus ribavirin only during the administration of IFN α-2b, ribavirin and retinol in patients with chronic hepatitis C

Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan

Kogetsu A., Isono M., Aikyo T., et al. Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan. Research Involvement and Engagement 9, 107 (2023); https://doi.org/10.1186/s40900-023-00515-5.Background: Although stakeholder involvement in policymaking is attracting attention in the fields of medicine and healthcare, a practical methodology has not yet been established. Rare-disease policy, specifically research priority setting for the allocation of limited research resources, is an area where evidence generation through stakeholder involvement is expected to be effective. We generated evidence for rare-disease policymaking through stakeholder involvement and explored effective collaboration among stakeholders. Methods: We constructed a space called ‘Evidence-generating Commons’, where patients, family members, researchers, and former policymakers can share their knowledge and experiences and engage in continual deliberations on evidence generation. Ten rare diseases were consequently represented. In the ‘Commons’, 25 consecutive workshops were held predominantly online, from 2019 to 2021. These workshops focused on (1) clarification of difficulties faced by rare-disease patients, (2) development and selection of criteria for priority setting, and (3) priority setting through the application of the criteria. For the first step, an on-site workshop using sticky notes was held. The data were analysed based on KJ method. For the second and third steps, workshops on specific themes were held to build consensus. The workshop agendas and methods were modified based on participants’ feedback. Results: The ‘Commons’ was established with 43 participants, resulting in positive effects such as capacity building, opportunities for interactions, mutual understanding, and empathy among the participants. The difficulties faced by patients with rare diseases were classified into 10 categories. Seven research topics were identified as priority issues to be addressed including ‘impediments to daily life’, ‘financial burden’, ‘anxiety’, and ‘burden of hospital visits’. This was performed by synthesising the results of the application of the two criteria that were particularly important to strengthen future research on rare diseases. We also clarified high-priority research topics by using criteria valued more by patients and family members than by researchers and former policymakers, and criteria with specific perspectives. Conclusion: We generated evidence for policymaking in the field of rare diseases. This study’s insights into stakeholder involvement can enhance evidence-informed policymaking. We engaged in comprehensive discussions with policymakers regarding policy implementation and planned analysis of the participants’ experiences in this project

Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations

Background & Aims Biliary tract cancers (BTCs) are clinically and pathologically heterogeneous and respond poorly to treatment. Genomic profiling can offer a clearer understanding of their carcinogenesis, classification and treatment strategy. We performed large-scale genome sequencing analyses on BTCs to investigate their somatic and germline driver events and characterize their genomic landscape. Methods We analyzed 412 BTC samples from Japanese and Italian populations, 107 by whole-exome sequencing (WES), 39 by whole-genome sequencing (WGS), and a further 266 samples by targeted sequencing. The subtypes were 136 intrahepatic cholangiocarcinomas (ICCs), 101 distal cholangiocarcinomas (DCCs), 109 peri-hilar type cholangiocarcinomas (PHCs), and 66 gallbladder or cystic duct cancers (GBCs/CDCs). We identified somatic alterations and searched for driver genes in BTCs, finding pathogenic germline variants of cancer-predisposing genes. We predicted cell-of-origin for BTCs by combining somatic mutation patterns and epigenetic features. Results We identified 32 significantly and commonly mutated genes including TP53 , KRAS , SMAD4 , NF1 , ARID1A , PBRM1 , and ATR , some of which negatively affected patient prognosis. A novel deletion of MUC17 at 7q22.1 affected patient prognosis. Cell-of-origin predictions using WGS and epigenetic features suggest hepatocyte-origin of hepatitis-related ICCs. Deleterious germline mutations of cancer-predisposing genes such as BRCA1 , BRCA2 , RAD51D , MLH1 , or MSH2 were detected in 11% (16/146) of BTC patients. Conclusions BTCs have distinct genetic features including somatic events and germline predisposition. These findings could be useful to establish treatment and diagnostic strategies for BTCs based on genetic information. Lay summary We here analyzed genomic features of 412 BTC samples from Japanese and Italian populations. A total of 32 significantly and commonly mutated genes were identified, some of which negatively affected patient prognosis, including a novel deletion of MUC17 at 7q22.1 . Cell-of-origin predictions using WGS and epigenetic features suggest hepatocyte-origin of hepatitis-related ICCs. Deleterious germline mutations of cancer-predisposing genes were detected in 11% of patients with BTC. BTCs have distinct genetic features including somatic events and germline predisposition