Malignant transformation of central neurocytoma with dissemination 17 years after initial treatment: illustrative case

BACKGROUND: Central neurocytomas usually have a favorable clinical course, and gross total resection (GTR) results in long-term survival. Recurrences of central neurocytomas are usually local, and dissemination is extremely rare. OBSERVATIONS: A 24-year-old man who presented with vomiting was found to have a mass in the right lateral ventricle. After GTR, he received whole-brain irradiation and chemotherapy and had remained disease-free on follow-up for years. The review of the initial tumor revealed central neurocytoma. Seventeen years later, he presented with deterioration of memory, and magnetic resonance imaging showed an enhanced lesion in the left hippocampus. The enhanced lesion was resected, and the histological examination revealed that the tumor was a disseminated atypical central neurocytoma with frequent mitoses. Although he was treated with chemotherapy, the disseminated tumor slowly grew and invaded the brain. Massive brain invasion occurred without enhanced lesions, and he died 27 months after the tumor recurrence. LESSONS: In this patient, a central neurocytoma disseminated after an extremely long period of time. Once neurocytomas disseminate and show aggressive behavior, patients usually follow a poor course. Patients with central neurocytomas should be followed up for a long time

Cation Binding Properties of Benzo-type Crown Ethers. 2. Effect of Large Ring Size upon Complexation Phenomena of Crown-7 and Crown-8 Derivatives

The cation-binding by two large ring-sized benzo-21-crown-7 and benzo-24-crown-8 has been performed by the solvent extraction of monovalent metal picrates (Na^+, K^+, Rb^+, Cs^+, Ag^+, and Tl^+) between water and dichlolomethane. The effect of ring size and benzo group upon the cation binding ability is discussed. The results are compared with benzo-18-crown-6 and simple unsubstituted crown ethers (18-crown-6, 21-crown-7 and 24-crown-8). It was found that large ring benzo-crown ethers have lower cation binding ability as the ring size increases compared with simple unsubstituted crown ethers while cation selectivity for large cations (Cs^+ and Tl^+) has been observed

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

陰嚢巨大類表皮嚢胞の1例

44歳男.右陰嚢の無痛性腫大を主訴に受診, エコー, CT, MRIで右精巣腫瘍と診断され, 右精巣摘除術を施行した.病理結果は陰嚢類表皮嚢胞であった.精巣の良性腫瘍として類表皮嚢胞は多くの報告があるが, 陰嚢内に発生し, 精巣や精索に無関係なものは極めて稀である.陰嚢類表皮嚢胞は陰嚢の良性腫瘍であり, 術前診断或いは術中迅速凍結標本において診断できれば, 精巣摘除を施行せずに済む症例であったA 44-year-old male was admitted with the chief complaint of a huge mass in the right scrotum. Computed tomography (CT), magnetic resonance imaging (MRI) and ultrasonography demonstrated a homogeneous lesion in the right testis. Under the diagnosis of right testicular tumor, surgical resection was performed and the right testis itself was found to be essentially normal. The mass contained 500 ml of liquid. The pathologic diagnosis was an epidermoid cyst of the scrotum, a rare disease with only 11 cases reported in Japan