Asymptomatic case of congenital absence of the gallbladder

Congenital absence of the gallbladder is rare among biliary abnormalities, and its preoperative diagnosis has been considered very difficult. We encountered a patient with congenital absence of the gallbladder and suggest a possible preoperative diagnosis of the abnormality, as well as reviewing the literature

Arctic weather in 2012 summer and influences on Arctic Environment

第3回極域科学シンポジウム/特別セッション「これからの北極研究」11月28日（水） 国立極地研究所 2階大会議

Future change of daily precipitation indices in Japan: a stochastic weather generator-based bootstrap approach to provide probabilistic climate information

This study proposes the stochastic weather generator (WG)-based bootstrap approach to provide the probabilistic climate change information on mean precipitation as well as extremes, which applies a WG (i.e., LARS-WG) to daily precipitation under the present-day and future climate conditions derived from dynamical and statistical downscaling models. Additionally, the study intercompares the precipitation change scenarios derived from the multimodel ensemble for Japan focusing on five precipitation indices (mean precipitation, MEA; number of wet days, FRE; mean precipitation amount per wet day, INT; maximum number of consecutive dry days, CDD; and 90th percentile value of daily precipitation amount in wet days, Q90). Three regional climate models (RCMs: NHRCM, NRAMS and TWRF) are nested into the high-resolution atmosphere-ocean coupled general circulation model (MIROC3.2HI AOGCM) for A1B emission scenario. LARS-WG is validated and used to generate 2000 years of daily precipitation from sets of grid-specific parameters derived from the 20-year simulations from the RCMs and statistical downscaling model (SDM: CDFDM). Then 100 samples of the 20-year of continuous precipitation series are resampled, and mean values of precipitation indices are computed, which represents the randomness inherent in daily precipitation data. Based on these samples, the probabilities of change in the indices and the joint occurrence probability of extremes (CDD and Q90) are computed. High probabilities are found for the increases in heavy precipitation amount in spring and summer and elongated consecutive dry days in winter over Japan in the period 2081-2100, relative to 1981-2000. The joint probability increases in most areas throughout the year, suggesting higher potential risk of droughts and excess water-related disasters (e. g., floods) in a 20 year period in the future. The proposed approach offers more flexible way in estimating probabilities of multiple types of precipitation extremes including their joint probability compared to conventional approaches

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

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