Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.

Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis of unknown cause. As only 10 patients have been identified in Japan, IEBAM presents diagnostic challenges due to the similarity of clinical symptoms with biliary atresia, thus necessitating precise differentiation to avoid unnecessary invasive procedures. Laboratory tests in IEBAM are characterized by normal γ-glutamyltransferase (GGT) and serum total bile acid (STBA) levels despite the presence of cholestasis; therefore, measuring STBA and GGT is essential to distinguishing biliary atresia from IEBAM. With suspected IEBAM, liquid chromatography-mass spectrometry (LC/MS) analysis of urinary bile acids is needed to optimize diagnostic and therapeutic efficacy and avoid open cholangiography and initiate treatment for primary bile acids such as cholic acid or chenodeoxycholic acid. This prospective report aims to increase awareness of IEBAM by highlighting the characteristics of general blood test and bile acid profiles from LC/MS analyses of blood, urine, and stool samples.

Comparison of Impressions of COVID-19 Vaccinations Stratified by the Number of Vaccinations Among Japanese Healthcare Professional University Students.

OBJECTIVE: Coronavirus infectious disease, that emerged in 2019 (COVID-19) has been a major public health issue not only in Japan, but also worldwide, and the implementation of a proper vaccination strategy has been important. To promote vaccination, the present study compared impressions of COVID-19 vaccinations stratified by the number of vaccinations among healthcare professional university students in Okayama, Japan, and suggests better vaccination strategies. METHOD: A total of 212 Japanese healthcare professional university students were enrolled in this clinical qualitative study using the text mining method. A self-reported questionnaire, including questions such as "What do you think about COVID-19 vaccinations?" was performed. We also examined the number of vaccinations, sex, history of COVID-19 infection, and daily mask use. RESULTS: A total of 5,935 words were obtained and "Think" (169 times) was the most frequently used followed by "Inject" (108 times), "Inoculation" (97 times), "Vaccine" (83 times), "Corona" (66 times) and "Side effects" (49 times). Characteristic words were "Safety" in non-vaccinated subjects and "Side effects" and "Necessary" in vaccinated subjects. In addition, "Safety" in non-vaccinated men and "Frightening" in non-vaccinated women were characteristic and fundamental features. CONCLUSION: Impressions of COVID-19 vaccinations stratified by the number of vaccinations differed among healthcare professional university students. The provision of appropriate information on safety to non-vaccinated subjects and side effects to vaccinated subjects appears to be necessary. In addition, sex-specific information may be required for non-vaccinated subjects.

Transcriptome Analysis by RNA Sequencing of Mouse Embryonic Stem Cells Stocked on International Space Station for 1584 Days in Frozen State after Culture on the Ground.

As a space project, in "Stem Cells" by the Japan Aerospace Exploration Agency (JAXA), frozen mouse ES cells were stored on the International Space Station (ISS) in the Minus Eighty Degree Laboratory Freezer for ISS (MELFI) for 1584 days. After taking these cells back to the ground, the cells were thawed and cultured, and their gene expressions were comprehensively analyzed using RNA sequencing in order to elucidate the early response of the cells to long-time exposure to space radiation consisting of various ionized particles. The comparisons of gene expression involved in double-stranded break (DSB) repair were examined. The expressions of most of the genes that were involved in homologous recombination (HR) and non-homologous end joining (NHEJ) were not significantly changed between the ISS-stocked cells and ground-stocked control cells. However, the transcription of Trp53inp1 (tumor protein 53 induced nuclear protein-1), Cdkn1a (p21), and Mdm2 genes increased in ISS-stocked cells as well as Fe ion-irradiated cells compared to control cells. This suggests that accumulated DNA damage caused by space radiation exposure would activate these genes, which are involved in cell cycle arrest for repair and apoptosis in a p53-dependent or -independent manner, in order to prevent cells with damaged genomes from proliferating and forming tumors.

Decrease in blood donation rates in Japan: a time series analysis / Redução na taxa de doadores de sangue no Japão: uma análise de série temporal

ABSTRACT: Objective: To clarify that one of the causes for the decrease in blood donation (BD) rates was the introduction of the 400 ml BD program in 1986. Method: BP rates were monitored over 48 years (1965-2012) and were divided into pre- and post-intervention periods prior to analysis. An interrupted time series analysis was performed using annual data on BD rates, and the impact of the 400 ml BD program was investigated. Results: In a raw series, autoregressive integrated moving average analysis revealed a significant change in slope between the pre- and post-intervention periods in which the intervention factor was the 400 ml BD program. The parameters were as follows: intercept (initial value) = 0.315, confidence interval (CI) = (0.029, 0.601); slope (pre-intervention) = 0.316, CI = (0.293, 0.340); slope difference = -0.435, CI = (-0.462, -0.408); slope (post-intervention) = -0.119, CI = (-0.135, -0.103); all, p = 0.000; goodness-of-fit, R2 = 0.963. After adjusting for stationarity and autocorrelation, the parameters were as follows: intercept (initial value) = -0.699, CI = (-0.838, -0.560); slope (pre-intervention) = 0.136, CI = (0.085, 0.187); slope difference = -0.165, CI = (-0.247, -0.083); slope (post-intervention) = -0.029, CI = (-0.070, 0.012); all, p = 0.000 (except for slope (post-intervention), p = 0.170); goodness-of-fit, R2 = 0.930. Conclusion: One of the causes for decrease in BD rates may be due to the introduction of the 400 ml BD program in Japan.

RESUMO: Objetivo: Esclarecer que uma das causas para a diminuição das taxas de doação de sangue (BP) foi a introdução do programa de doação de sangue BP de 400 mL em 1986. Método: As taxas de BP foram monitoradas ao longo de 48 anos (1965-2012) e divididas em períodos pré e pós-intervenção antes da análise. Uma análise de séries temporais interrompidas foi realizada usando dados anuais sobre as taxas de BP, e investigamos o impacto do programa de BP de 400 mL. Resultados: Em uma série bruta, a análise integrada autorregressiva de médias móveis revelou uma mudança significativa na inclinação entre os períodos pré e pós-intervenção em que o fator de intervenção foi o programa de 400 mL da BP. Os parâmetros foram os seguintes: intercepto (valor inicial) = 0,315, intervalo de confiança (IC) = (0,029, 0,601); inclinação (pré-intervenção) = 0,316, IC = (0,293, 0,340); diferença de inclinação = -0,435, IC = (- 0,462, -0,408); inclinação (pós-intervenção) = -0,119, IC = (-0,135, -0,103); todos, p = 0,000; poder explicativo do modelo, R2 = 0.963. Após o ajuste para estacionariedade e autocorrelação, os parâmetros foram os seguintes: intercepto (valor inicial) = -0,699, CI = (-0,838, -0,560); inclinação (pré-intervenção) = 0,136, IC = (0,085, 0,187); diferença de inclinação = -0,165, IC = (-0,247, -0,083); inclinação (pós-intervenção) = -0,029, IC = (-0,070, 0,012); tudo, p = 0,000 (com exceção da inclinação (pós-intervenção), p = 0,170); poder explicativo do modelo, R2 = 0.930. Conclusão: Uma das causas para a diminuição das taxas de BP pode ser devido à introdução do programa de doação de sangue BP de 400 ml no Japão.