Screening of the Maturity Status of the Tibial Tuberosity by Ultrasonography in Higher Elementary School Grade Schoolchildren

This study aimed to obtain screening data on the maturity status of the tibial tuberosity in schoolchildren of higher elementary school grades for risk management of Osgood-Schlatter disease (OSD). The maturity stages and cartilage thicknesses at the tibial tuberosity were determined by ultrasonography on the occasion of a school-based musculoskeletal examination for 124 grade 5-6 elementary schoolchildren, and their associations with the students\u27 demographic characteristics and OSD were examined. The time-dependent changes of the maturity status of the tibial tuberosity were also examined in grade 5 students (n = 26) by a longitudinal survey. The cross-sectional survey showed that the epiphyseal stage was reached in 89% of girls and 35% of boys. The girls who had experienced menarche (n = 28) were all in the epiphyseal stage and had a decreased cartilage thickness (p = 0.004, after adjusting maturity stages). Students with OSD (n = 5) were all girls in the epiphyseal stage, and only two of them had an increased cartilage thickness. During the longitudinal survey, a marked increase in cartilage thickness from the previous measurement was observed in three boys (without clinical symptoms) and a girl who newly developed OSD. Two students with OSD without chronic pain had thin cartilage. In conclusion, for schoolchildren of higher elementary school grades, the risk of OSD is higher among girls with the epiphyseal stage. Cartilage thickness may not contribute to the diagnosis of OSD, since thick cartilage is not very common in OSD. However, cartilage thickness may reflect the status of OSD

Influence of Self-Efficacy on Cancer-Related Fatigue and Health-Related Quality of Life in Young Survivors of Childhood Cancer

This study aims to elucidate how self-efficacy influences cancer-related fatigue and health-related quality of life (HRQoL) in young survivors of childhood cancer. Forty-six young survivors (age range, 8-18 years) of childhood cancer who were currently in complete remission completed measures for self-efficacy (Pediatric General Self-Efficacy Scale (PedsSE)), cancer-related fatigue (Cancer-related Fatigue Score (CRFS)), and HRQoL (Pediatric Quality of Life Inventory 4.0 Generic Core Scale, Pediatric Quality of Life Inventory (PedsQL)). Structural relationships between the PedsSE and CRFS or PedsQL, including the effects of potential demographic or clinical confounders, were examined by machine learning random forest algorithms and structural equation modeling. According to the distribution of the PedsQL, six survivors with PedsQL < 70 were determined to have compromised HRQoL (referred to as low-PedsQL survivors). The random forest model identified six variables for the prediction of the CRFS, with the PedsSE being the most important, and eight variables for the distinction of low-PedsQL survivors, with the CRFS being the most and the PedsSE the third most important variable. The structural equation model indicated that a direct influence of the PedsSE on the PedsQL was less detectable (beta = -0.049), whereas an indirect influence of the PedsSE on the PedsQL via the CRFS was evident (beta = 0.333). The model explained 51% of the variation of the CRFS and 28% of the variation of the PedsQL. The PedsSE was strongly correlated with altered mood in the subclass of the CRFS (r = -0.470), and altered mood was strongly correlated with the PedsQL (r = 0.737). In conclusion, self-efficacy is a major determinant of cancer-related fatigue and influences HRQoL via cancer-related fatigue in survivors of childhood cancer. The main pathway from self-efficacy to HRQoL is thought to be via the emotional aspect of cancer-related fatigue. However, unlike adult survivors of cancer, self-efficacy for young survivors may not contribute much to self-management behaviors that maintain HRQoL

The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force

「コロナ制圧タスクフォース」COVID-19患者由来の血液細胞における遺伝子発現の網羅的解析 --重症度に応じた遺伝子発現の変化には、ヒトゲノム配列の個人差が影響する--. 京都大学プレスリリース. 2022-08-23.Coronavirus disease 2019 (COVID-19) is a recently-emerged infectious disease that has caused millions of deaths, where comprehensive understanding of disease mechanisms is still unestablished. In particular, studies of gene expression dynamics and regulation landscape in COVID-19 infected individuals are limited. Here, we report on a thorough analysis of whole blood RNA-seq data from 465 genotyped samples from the Japan COVID-19 Task Force, including 359 severe and 106 non-severe COVID-19 cases. We discover 1169 putative causal expression quantitative trait loci (eQTLs) including 34 possible colocalizations with biobank fine-mapping results of hematopoietic traits in a Japanese population, 1549 putative causal splice QTLs (sQTLs; e.g. two independent sQTLs at TOR1AIP1), as well as biologically interpretable trans-eQTL examples (e.g., REST and STING1), all fine-mapped at single variant resolution. We perform differential gene expression analysis to elucidate 198 genes with increased expression in severe COVID-19 cases and enriched for innate immune-related functions. Finally, we evaluate the limited but non-zero effect of COVID-19 phenotype on eQTL discovery, and highlight the presence of COVID-19 severity-interaction eQTLs (ieQTLs; e.g., CLEC4C and MYBL2). Our study provides a comprehensive catalog of whole blood regulatory variants in Japanese, as well as a reference for transcriptional landscapes in response to COVID-19 infection

DOCK2 is involved in the host genetics and biology of severe COVID-19

「コロナ制圧タスクフォース」COVID-19疾患感受性遺伝子DOCK2の重症化機序を解明 --アジア最大のバイオレポジトリーでCOVID-19の治療標的を発見--. 京都大学プレスリリース. 2022-08-10.Identifying the host genetic factors underlying severe COVID-19 is an emerging challenge. Here we conducted a genome-wide association study (GWAS) involving 2, 393 cases of COVID-19 in a cohort of Japanese individuals collected during the initial waves of the pandemic, with 3, 289 unaffected controls. We identified a variant on chromosome 5 at 5q35 (rs60200309-A), close to the dedicator of cytokinesis 2 gene (DOCK2), which was associated with severe COVID-19 in patients less than 65 years of age. This risk allele was prevalent in East Asian individuals but rare in Europeans, highlighting the value of genome-wide association studies in non-European populations. RNA-sequencing analysis of 473 bulk peripheral blood samples identified decreased expression of DOCK2 associated with the risk allele in these younger patients. DOCK2 expression was suppressed in patients with severe cases of COVID-19. Single-cell RNA-sequencing analysis (n = 61 individuals) identified cell-type-specific downregulation of DOCK2 and a COVID-19-specific decreasing effect of the risk allele on DOCK2 expression in non-classical monocytes. Immunohistochemistry of lung specimens from patients with severe COVID-19 pneumonia showed suppressed DOCK2 expression. Moreover, inhibition of DOCK2 function with CPYPP increased the severity of pneumonia in a Syrian hamster model of SARS-CoV-2 infection, characterized by weight loss, lung oedema, enhanced viral loads, impaired macrophage recruitment and dysregulated type I interferon responses. We conclude that DOCK2 has an important role in the host immune response to SARS-CoV-2 infection and the development of severe COVID-19, and could be further explored as a potential biomarker and/or therapeutic target

Qualitative and inductive analysis on the process on the process of decision-making when nurses were faced with ethical delemmas concerning selection or termination of treatment for infertile patients

本研究は, 不妊患者の治療の選択・終結に関する看護者の倫理的ジレンマからの意思決定過程を明らかにすることを目的とした. ３名の看護者より半構成的面接法にてデータ収集し, 質的帰納的分析を行った. 倫理的ジレンマは,患者が無益な治療か健康に悪影響のあるかもしれない治療を選択した場合,《専門的判断に基づく看護》と《患者の選択を尊重する看護》の対立から派生していた. これらの看護者は, 自分たちの専門的価値観と患者の求める価値観との照合を行い, その結果, 患者の置かれた状況への洞察を深め,《患者の選択を尊重する看護》を選択していた.本研究結果の不妊看護における倫理的ジレンマから最終的意思決定までのプロセスは, 不妊看護を遂行していく上で参考になるモデルと考えられる