Retroperitoneal lymphatic malformation causing scrotal swelling– a useful diagnostic work-up with two-phase MRI to differentiate from scrotal lymphatic malformation or abdomino-scrotal hydrocele

Background: Lymphatic malformation (LM) is an abnormal collection of lymphatic fluid within cysts or channels. LM can occur in any part of the body, but LM leading to scrotal swelling is very rare, and this unusual location often leads to diagnostic errors because the most common cause of a scrotal cystic lesion is a hydrocele. In the case presented here, a previously healthy 3-year-old boy recently developed a left scrotal swelling clinically mimicking a communicating hydrocele. However, a diagnostic laparoscopy showed a cystic lesion at the left internal inguinal ring with a closed internal inguinal ring, which is not an expected finding of communicating hydrocele. Differential diagnoses at surgery were scrotal LM, retroperitoneal LM, or abdomino-scrotal hydrocele (ASH). Two phase MRI performed both at the time of scrotal swelling and scrotal non-swelling showed a retroperitoneal LM bulging into the scrotum via the inguinal canal. Therefore, the retroperitoneal LM was completely resected using the inguinal approach. Conclusion: LM causing scrotal cystic lesion is rare, and it requires a high index of suspicion to make the correct diagnosis. Laparoscopy was needed to rule out the communicating hydrocele, and two-phase MRI was very useful to differentiate retroperitoneal LM causing scrotal swelling from scrotal LM or ASH. Both examinations helped with diagnosis and treatment planning.Chizue Ichijo, Shohei Takami, Kan Suzuki, Jun Fujishiro, Miho Watanabe, Retroperitoneal lymphatic malformation causing scrotal swelling– a useful diagnostic work-up with two-phase MRI to differentiate from scrotal lymphatic malformation or abdomino-scrotal hydrocele, Journal of Pediatric Surgery Case Reports, Volume 64, 2021, 101701, ISSN 2213-5766, https://doi.org/10.1016/j.epsc.2020.101701

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

A case of periodic abdominal pain and fever due to left ovarian abscess

Tubo-ovarian abscess (TOA) is a late complication of pelvic inflammatory disease. Its diagnosis is difficult because it is occasionally accompanied by atypical symptoms such as abdominal pain and fever. A 45-year-old married woman presented with recurrent abdominal pain and fever. Her medical history included ovarian surgery 14 years prior to presentation. Computed tomography (CT) performed by her local doctor confirmed uterine fibroids and a left ovarian tumor. Following a detailed examination and magnetic resonance imaging at our hospital, a TOA was suspected, and surgery was planned. During surgery, the adhesion was firm and required laparotomy. Ultimately, the left ovarian tumor was confirmed to be a TOA. Although complete surgical resection was not feasible. A surgical drain was inserted, and the pus was drained. Cultures revealed Citrobacter freundii and other organisms, and oral quinolone antibiotics were administered. CT performed on the fourth postoperative day demonstrated a residual abscess; however, 5 weeks after surgery, CT showed complete resolution of the residual abscess. Subsequently, the antibiotic regimen was terminated, and progestins were administered for the treatment of endometriosis, which is still ongoing