A case of pulmonary stenosis after a repair for tetralogy of Fallot treated with percutaneous pulmonary valvuloplasty using a triple-balloon technique

SummaryThe patient was a 37-year-old female who had undergone a repair for tetralogy of Fallot (TOF) at the age of 4 years. Postoperative pulmonary stenosis remained, but she continued to be managed medically. Approximately 3 years ago, at the age of 34, she exhibited a worsening of fatigue and dyspnea during exertion (New York Heart Association III), and was therefore hospitalized for a detailed examination. In cardiac catheterization, a right ventricle to pulmonary artery peak-to-peak gradient of about 90mmHg was observed. Since it appeared that medical treatment alone would not sufficiently control her heart failure, pulmonary valvuloplasty using a triple-balloon technique was performed for the pulmonary stenosis. The peak-to-peak gradient immediately after the procedure decreased to 13mmHg. There were no indications of restenosis approximately 6 months after the procedure, and the symptoms of heart failure in her daily life improved thereafter

Bilateral Ovarian Tumors on MRI : How Should We Differentiate the Lesions?

Background: We investigated the distinguishing pathological features of bilateral ovarian tumors using magnetic resonance (MR) imaging. Methods: Eighty-six patients with bilateral ovarian tumors on MR imaging were evaluated. The pathological diagnosis was investigated, and the results were subjected to statistical analysis using Mann-Whitney U test, Fisher’s exact test, Chi-squared test and receiver operating characteristic (ROC) curve to determine the features useful for the differentiation of distinct types of lesions. Results: The diagnosis of bilateral ovarian tumors was confirmed in eighty-one patients and the majority of the lesions were further classified into serous carcinoma (n = 36), mature teratoma (n = 20) and metastasis (n = 12). We assessed the existence of factors useful for the MR imaging differentiation between metastasis and serous carcinoma or primary malignant ovarian tumors. Cancer antigen (CA) 125 serum level and maximum tumor diameter were significantly different between metastasis and serous carcinoma and similarly, between metastasis and primary malignant ovarian tumors. MR imaging morphology, ascites and peritoneal implants did not show any significant difference between the different types of lesions. Conclusion: Within our patient cohort, most bilateral ovarian tumor lesions were determined to be serous carcinoma, mature teratoma or metastasis. CA 125 serum level and maximum tumor diameter are useful markers for the differentiation between metastasis and serous carcinoma or primary malignant ovarian tumors

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

The datasets for Precise immunofluorescence canceling enables highly multiplexed imaging

Cell states are regulated by responsive signal pathways upon ligand-binding to the receptor and inter-cellular interactions. Thus, high-resolution imaging has been attempted to explore the dynamics of signaling. Recently, multiplexed imaging has been introduced to profile cell state by acquisition of comprehensive spatial protein information in the cells. However, it is still challenging to compromise resolution for visualizing activated signals. Here we developed ‘Precise Emission Canceling Antibody (PECAb)’ attached with erasable fluorescent labeling. PECAbs allow high-resolution sequential imaging using 206 antibodies and it allowed reconstruction of the spatiotemporal dynamics of signaling pathways. Additionally, combining this approach with seq-smFISH can effectively classify cells and identify their signal activation states in human tissue. Overall, the PECAb system serves as a comprehensive platform for analyzing complex cell processes

Experimental quantum kernel trick with nuclear spins in a solid

Abstract The kernel trick allows us to employ high-dimensional feature space for a machine learning task without explicitly storing features. Recently, the idea of utilizing quantum systems for computing kernel functions using interference has been demonstrated experimentally. However, the dimension of feature spaces in those experiments have been smaller than the number of data, which makes them lose their computational advantage over explicit method. Here we show the first experimental demonstration of a quantum kernel machine that achieves a scheme where the dimension of feature space greatly exceeds the number of data using 1H nuclear spins in solid. The use of NMR allows us to obtain the kernel values with single-shot experiment. We employ engineered dynamics correlating 25 spins which is equivalent to using a feature space with a dimension over 1015. This work presents a quantum machine learning using one of the largest quantum systems to date

Experimental quantum kernel trick with nuclear spins in a solid

The kernel trick allows us to employ high-dimensional feature space for a machine learning task without explicitly storing features. Recently, the idea of utilizing quantum systems for computing kernel functions using interference has been demonstrated experimentally. However, the dimension of feature spaces in those experiments have been smaller than the number of data, which makes them lose their computational advantage over explicit method. Here we show the first experimental demonstration of a quantum kernel machine that achieves a scheme where the dimension of feature space greatly exceeds the number of data using 1H nuclear spins in solid. The use of NMR allows us to obtain the kernel values with single-shot experiment. We employ engineered dynamics correlating 25 spins which is equivalent to using a feature space with a dimension over 1015. This work presents a quantum machine learning using one of the largest quantum systems to date