Cavernous hemangioma of the accessory parotid gland.

ABSTRACT: We report a rare case of a hemangioma arising from the accessory parotid gland. The patient, a 45-year-old woman, complained of a right midcheek mass. Magnetic resonance imaging showed a well-defined mass located in the right buccal space, anterior to the masseter muscle, and adjacent to the Stensen duct. The mass had high T2-weighted signal intensity and showed strong patchy enhancement with gadolinium. This mass was surrounded by a common capsule with the accessory parotid gland. These findings indicated a hemangioma originating from the accessory parotid gland. The mass was completely removed by an intraoral approach without postoperative facial palsy, skin deformity, and difficulty in secreting saliva. Histologic examination of the tumor revealed multiple, thin-walled, and dilated blood vessels, confirming the diagnosis of a cavernous hemangioma. Magnetic resonance imaging was extremely useful in diagnosing the mass as a hemangioma before surgery, clarifying relationships between the mass and adjacent structures and determining the surgical approach to the mass

Regeneration of Mastoid Air Cells in Vivo Using Autologous Cortical Bone

Purpose: This was a preliminary study to assess surgical construction and regeneration of mastoid air cells in the treatment of cholesteatoma. Methods: Two-stage tympanoplasty with mastoidectomy was performed in four cases of unilateral cholesteatoma with sclerotic mastoid. During the first-stage operation, small fragments of autologous cortical bone were inserted into the cavity after mastoidectomy to form a honeycomb-like structure. Reconstruction of the lateral wall of the mastoid cavity was performed using the mastoid cortical bony plate. Pre- and postoperative mastoid volume was evaluated by three-dimensional reconstruction based on high-resolution computed tomography (HR-CT) images. Results: HR-CT images after the first-stage operation showed that mastoid volume had increased in all subjects. Macroscopic inspection during the second-stage operation revealed that the honeycomb-like structure made of bony fragments and covered by thin mucosa in the mastoid cavity was stable, with no evidence of effusion or granulation tissue. No retraction of the eardrum, middle ear effusion or recurrence of cholesteatoma was observed, and the hearing level on a pure-tone audiogram was improved in any subject 60 - 94 months after the second-stage operation. Conclusion: Surgical construction and regeneration of mastoid air cells using autologous cortical bone can be useful in treatment of cholesteatoma with arrested mastoid pneumatization

Unraveling the Nature of Unidentified High Galactic Latitude Fermi/LAT Gamma-ray Sources with Suzaku

We report on the results of deep X-ray follow-up observations of four unidentified Fermi/LAT gamma-ray sources at high Galactic latitudes using Suzaku. The studied objects were detected with high significance during the first 3 months of Fermi/LAT operation, and subsequently better localized in the Fermi/LAT 1 year catalog (1FGL). Possible associations with pulsars and active galaxies have subsequently been discussed, and our observations provide an important contribution to this debate. In particular, an X-ray point source was found within the 95% confidence error circle of 1FGL J1231.1-1410. X-ray spectrum is well-fitted by a blackbody with an additional power-law. This supports the recently claimed identification of this source with a millisecond pulsar (MSP) PSR J1231-1411. Concerning 1FGL J1311.7-3429, two X-ray sources were found within the LAT error circle. Even though the X-ray spectral and variability properties were accessed, their nature and relationship with the gamma-ray source remain uncertain. We found several weak X-ray sources in the field of 1FGL J1333.2+5056, one coinciding with CLASS J1333+5057. We argue the available data are consistent with the association between these two objects. Finally, we have detected an X-ray source in the vicinity of 1FGL J2017.3+0603. This object was recently suggested to be associated with a newly discovered MSP PSR J2017+0603, because of the spatial-coincidence and the gamma-ray pulse detection. We have only detected the X-ray counterpart of the CLASS J2017+0603, while we determined an X-ray flux upper limit at the pulsar position. All in all, our studies indicate while a significant fraction of unidentified high Galactic latitude gamma-ray sources is related to the pulsar and blazar phenomena, associations with other classes of astrophysical objects are still valid options.Comment: Accepted for publication in the Ap

Upshaw-Schulman症候群の糸球体障害には補体活性とADAMTS13欠損が関連している可能性がある

Introduction: Upshaw-Schulman syndrome (USS) is a congenital form of thrombotic thrombocytopenic purpura (TTP) associated with loss-of-function mutations in the ADAMTS13 gene, possibly leading to aberrant complement activation and vascular injury. However, USS is extremely rare, and there have been no systematic studies correlating histopathological severity with local ADAMTS13 expression and complement activation. Materials and methods: Here, we compared histopathological features, ADAMTS13 immunoreactivity, and immunoreactivity of complement proteins C4d and C5b-9 among renal biopsy tissues from five USS cases, ten acquired TTP cases, and eleven controls. Results: Pathological analysis revealed chronic glomerular sclerotic changes in the majority of USS cases (4 of 5), with minor glomerular pathology in the remaining case. In two of these four severe cases, more than half of the glomerular segmental sclerosis area was localized in the perihilar region. The average number of ADAMTS13-positive cells per glomerulus was significantly lower in USS cases than controls (p < 0.05). Conversely, C4d staining was significantly more prevalent in the glomerular capillary walls of USS cases than controls (p < 0.05), while C5b-9 staining did not differ significantly among groups. Conclusions: These findings suggest that the severity of glomerular injury in USS is associated with deficient ADAMTS13 expression and local complement activation, particularly in vascular regions with higher endothelial shear stress. We suggest that C4d immunostaining provides evidence for complement-mediated glomerular damage in USS.博士（医学）・甲第792号・令和3年3月15日Copyright © 2018 Elsevier Ltd. All rights reserved

Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals

Gout is a common arthritis caused by elevated serum uric acid (SUA) levels. Here we investigated loci influencing SUA in a genome-wide meta-analysis with 121,745 Japanese subjects. We identified 8948 variants at 36 genomic loci (P<5 × 10–8) including eight novel loci. Of these, missense variants of SESN2 and PNPLA3 were predicted to be damaging to the function of these proteins; another five loci—TMEM18, TM4SF4, MXD3-LMAN2, PSORS1C1-PSORS1C2, and HNF4A—are related to cell metabolism, proliferation, or oxidative stress; and the remaining locus, LINC01578, is unknown. We also identified 132 correlated genes whose expression levels are associated with SUA-increasing alleles. These genes are enriched for the UniProt transport term, suggesting the importance of transport-related genes in SUA regulation. Furthermore, trans-ethnic meta-analysis across our own meta-analysis and the Global Urate Genetics Consortium has revealed 15 more novel loci associated with SUA. Our findings provide insight into the pathogenesis, treatment, and prevention of hyperuricemia/gout

大切な人を亡くした人のための遺族会の実践報告

遺族会は，子どもを亡くした家族を対象に同じ経験を持つ家族が思い出を分かち合い，理解し，支え合い，心の癒しの場となることを目的に，1999年12月に立ち上げ，毎月1回の開催を目標に現在も継続して開催してきた。しかし，参加者が少ないことや子ども以外を亡くした人の参加希望もあり，大切な人を亡くした全ての人に対象を拡大してきた。遺族会の活動は主に語り合いで，参加者が中心となりリーフレットやメモリアルキルトの作成も行った。活動記録から，参加者の語りは「みんなと同じ気持ちだと分かってよかった」「あの子のことだけを考える時間・場所だと思っている」などであった。さらに，遺族会を毎月1回の開催とすることで，遺族はタイムリーに参加し，自由に語ることや，参加しなくてもはがきの案内で故人を想う機会となるなどであった。遺族会を毎月開催し続けることは，遺族が故人を想う機会となること，自由に参加しやすいこと，大切な人を亡くしたという同じ経験を共に語らいながら時間を過ごすことができることから，悲嘆からの回復に寄与できていると考える。今後は，遺族ケアが必要な遺族に遺族会の存在が周知されていない可能性が考えられるので，遺族会について積極的に広報活動を行う必要がある

Single-Cell Expression Profiling Reveals a Dynamic State of Cardiac Precursor Cells in the Early Mouse Embryo

In the early vertebrate embryo, cardiac progenitor/precursor cells (CPs) give rise to cardiac structures. Better understanding their biological character is critical to understand the heart development and to apply CPs for the clinical arena. However, our knowledge remains incomplete. With the use of single-cell expression profiling, we have now revealed rapid and dynamic changes in gene expression profiles of the embryonic CPs during the early phase after their segregation from the cardiac mesoderm. Progressively, the nascent mesodermal gene Mesp1 terminated, and Nkx2-5+/Tbx5+ population rapidly replaced the Tbx5low+ population as the expression of the cardiac genes Tbx5 and Nkx2-5 increased. At the Early Headfold stage, Tbx5-expressing CPs gradually showed a unique molecular signature with signs of cardiomyocyte differentiation. Lineage-tracing revealed a developmentally distinct characteristic of this population. They underwent progressive differentiation only towards the cardiomyocyte lineage corresponding to the first heart field rather than being maintained as a progenitor pool. More importantly, Tbx5 likely plays an important role in a transcriptional network to regulate the distinct character of the FHF via a positive feedback loop to activate the robust expression of Tbx5 in CPs. These data expands our knowledge on the behavior of CPs during the early phase of cardiac development, subsequently providing a platform for further study

Competition for Mitogens Regulates Spermatogenic Stem Cell Homeostasis in an Open Niche

In many tissues, homeostasis is maintained by physical contact between stem cells and an anatomically defined niche. However, how stem cell homeostasis is achieved in environments where cells are motile and dispersed among their progeny remains unknown. Using murine spermatogenesis as a model, we find that spermatogenic stem cell density is tightly regulated by the supply of fibroblast growth factors (FGFs) from lymphatic endothelial cells. We propose that stem cell homeostasis is achieved through competition for a limited supply of FGFs. We show that the quantitative dependence of stem cell density on FGF dosage, the biased localization of stem cells toward FGF sources, and stem cell dynamics during regeneration following injury can all be predicted and explained within the framework of a minimal theoretical model based on “mitogen competition.” We propose that this model provides a generic and robust mechanism to support stem cell homeostasis in open, or facultative, niche environments

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