Kanazawa University

Since comprehensive data on the pathogenic variants of ABCG5 and ABCG8 and clinical features in sitosterolemia remain limited, we aimed to compile a catalog through an extensive literature search of case reports from 2002 to 2024, as well as an evaluation of variants reported in review articles. We compiled 155 cases of sitosterolemia from 133 families with nonsynonymous variants in ABCG5 and ABCG8, along with data on clinical information from case reports. Pathogenic variants were defined either as 1) protein-truncating variants, 2) classified as pathogenic or likely pathogenic variants according to the ACMG guidelines, or 3) serum sitosterol level of the case was measured at ≥ 1 mg/dL. Xanthoma was observed in 69.2% of patients, ischemic heart disease in 14.2%, and hematologic abnormalities in 57.9%. Fifty-three variants in ABCG5 and 52 in ABCG8 were evaluated for their pathogenicity, in which 33 in ABCG5 and 29 in ABCG8 were protein-truncating variants. Additionally, based on the ACMG criteria and serum sitosterol levels, 50 variants in ABCG5 and 51 variants in ABCG8 were finally classified as pathogenic. Among them, the frequently observed R446X and R389H in ABCG5 were highly prevalent in East Asians, while W361X and S107X in ABCG8 were predominantly found in Europeans. We provided the largest catalog of clinical features and pathogenic variants of ABCG5 and ABCG8 in the world. This study may help clarify the pathogenicity of variants in ABCG5 and ABCG8 and provide a valuable reference for the genetic diagnosis of sitosterolemia.

Bronchoscopy frequently precipitates intraprocedural hypoxemia. Although several recent randomized controlled trials suggest that high-flow nasal cannula oxygen (HFNO) reduces intraprocedural hypoxemia during bronchoscopy, the overall certainty of this evidence remains insufficient. Hence, we performed a systematic review and meta-analysis to compare the efficacy of HFNO with that of conventional low-flow oxygen therapy (COT) during adult bronchoscopy. MEDLINE, Embase, and trial registries were searched for randomized controlled trials (RCTs) involving adults (18y or older) undergoing bronchoscopy that compared HFNO with COT. The primary outcome was the incidence of hypoxemia during the procedure. The key secondary outcomes were total procedure time, bronchoscopy interruption, and lowest intraprocedural peripheral oxygen saturation. The pooled risk ratios (RRs) or mean differences (MDs) were calculated, and the certainty of evidence was assessed. The protocol was registered with PROSPERO (CRD420251071548). Eleven RCTs (12 study arms) comprising 1714 participants met the inclusion criteria. HFNO was found to significantly reduce the incidence of hypoxemic events compared with COT (RR: 0.39, 95% CI: 0.26-0.59) and lowered the likelihood of procedure interruption (RR: 0.39, 95% CI: 0.27-0.55). HFNO also maintained a higher nadir SpO2 (MD=4.5%, 95% CI: 3.02-5.99). No statistically significant difference was observed in the total procedure time (MD: -0.87min, 95% CI: -1.99 to 0.25). This meta-analysis showed HFNO reduces the incidence of intraprocedural hypoxemia and interruptions during bronchoscopy. Our findings support a selective approach, suggesting the benefits of HFNO are greater in high-risk patients.

Tissue clearing has been widely used for fluorescence imaging of fixed tissues, but its application to live tissues has been limited by toxicity. Here we develop minimally invasive optical clearing media for fluorescence imaging of live mammalian tissues. Light scattering is minimized by adding spherical polymers with low osmolarity to the extracellular medium. A clearing medium containing bovine serum albumin (SeeDB-Live) is compatible with live cells, enabling structural and functional imaging of live tissues, such as spheroids, organoids, acute brain slices and the mouse brains in vivo. SeeDB-Live minimally affects neuronal electrophysiological properties and sensory responses in vivo, and facilitates fluorescence imaging of deep cortical layers in live animals without detectable toxicity to neurons or behavior. We further demonstrate its utility to epifluorescence voltage imaging in acute brain slices and in vivo preparations. Thus, SeeDB-Live expands both the depth and modality range of fluorescence imaging in live mammalian tissues.

Recurrent respiratory papillomatosis (RRP) is associated with low-risk types of human papillomavirus (HPV). With HPV DNA testing, the oral rinse of RRP patients may be a useful liquid biopsy, as previously shown in patients with oropharyngeal cancer. Oral rinse, along with palatine and pharyngeal tonsil swabs, were collected from seven patients with persistent RRP. HPV DNA detection was performed using polymerase chain reaction, followed by genotype identification. HPV DNA was detected in five of seven oral rinse samples, but not in any palatine or pharyngeal tonsil swabs. HPV6 was identified in four of the five HPV-positive oral rinses, which was consistent with the RRP tissues. HPV DNA can be detected in oral rinses from patients with RRP, suggesting the utility of the oral rinse as a liquid biopsy. In contrast, neither the palatine nor the pharyngeal tonsils were reservoirs of HPV in study patients with RRP.

This study examines cultural interference in Indonesian folktale writing in Japanese produced by university-level learners of Japanese as a foreign language. The research aims to identify patterns of cultural interference and to describe how Indonesian cultural concepts are transferred, adapted, or inadequately represented in Japanese narrative texts. Employing a qualitative descriptive approach, the study analyzes 39 folktales written by Indonesian students at intermediate to upper-intermediate proficiency levels. The data were analyzed at lexical, grammatical, and discourse levels using contrastive analysis, error analysis, interlanguage analysis, and contrastive rhetoric. The findings reveal that cultural interference occurs consistently across all texts. Lexical interference is reflected in inappropriate word choice and the use of culturally bound terms without adequate adaptation. Grammatical interference appears in inconsistent sentence-final forms, inaccurate tense and aspect marking, and frequent misuse or omission of particles. At the discourse level, interference manifests through abrupt subject shifts, non-natural sentence structures, and insufficient contextual introduction of characters and settings, which disrupt narrative coherence. The study demonstrates that cultural interference in foreign language writing extends beyond linguistic error and represents learners’ ongoing intercultural negotiation. The findings highlight the importance of integrating cultural discourse awareness into Japanese language writing instruction, particularly in narrative-based learning contexts.