Asahikawa City Hospital

There is an increasing need for predictors of clinical outcomes in patients with ulcerative colitis (UC). In this exploratory analysis, we aimed to analyze the gene expression profile of intestinal tissues according to treatment outcome in patients with UC treated with vedolizumab and to develop a treatment outcome prediction model. Transcriptomic analysis of intestinal tissues at the inflammation site (week 0) of patients (N = 10), stratified by mucosal healing status at week 54 after vedolizumab 300 mg treatment, was performed to identify differentially expressed genes (DEGs) with ≥ 1.5-fold difference and P < 0.05. Vedolizumab-related ‘hub’ genes were identified by network analysis (cytoHubba). Candidate biomarkers were selected and a prediction model for mucosal healing was developed using the least absolute shrinkage and selection operator (LASSO) algorithm (a machine learning method that helps to identify the most relevant genes for prediction while avoiding overfitting), which was validated with a public dataset (GSE73661). Transcriptomic analysis revealed 375 DEGs associated with vedolizumab mucosal healing. Gene enrichment analysis revealed terms associated with T cell activation and immune regulation. Eighteen hub genes were identified. A prediction model developed and validated with a public dataset had AUC–ROC values of 0.800 (95% CI, 0.551–1.000) and 0.750 (95% CI, 0.350–1.000) for the week 12 and 52 vedolizumab validation cohorts, respectively. In contrast, the AUC–ROC was 0.575 (95% CI, 0.317–0.833) for the week 4–6 infliximab validation cohort, suggesting that the model is specific for vedolizumab-associated clinical outcomes. We identified hub genes that were related to vedolizumab treatment outcomes. A prediction model of vedolizumab-associated mucosal healing was developed and validated with a public dataset.

This multicenter, 6-month naturalistic observational study investigated the time from as-needed (PRN) administration of psychotropic medications to the onset of calming in patients with acute psychotic disorders. Newly admitted patients exhibiting moderate to marked agitation on the Agitation-Calmness Evaluation Scale (ACES) and requiring PRN treatment were included, and 170 first agitation episodes were analyzed. The primary outcome was time to onset of effect, defined as achieving ACES = 3. Medication refusal at baseline was far more frequent in patients with injectable formulations than those with oral or sublingual agents (65.5% vs. 4.3%). Kaplan-Meier estimates showed mean onset times (minutes) for oral/sublingual drugs as follows: asenapine sublingual, 30.0; olanzapine orally disintegrating tablet, 31.9; quetiapine, 46.6; and risperidone oral solution, 34.5. Using Cox proportional hazards models with asenapine as reference, quetiapine demonstrated a significantly lower hazard of achieving calming (hazard ratio 0.39), while risperidone showed a nonsignificant trend. For injectable antipsychotics, mean onset times were: olanzapine intramuscular, 36.3; haloperidol intramuscular, 47.5; and haloperidol intravenous, 45.0, with no significant differences among them. No serious adverse events were observed. The findings suggest that asenapine sublingual may offer faster calming in patients without refusal, and that future studies with shorter assessment intervals are warranted.

Recent advances in sequencing technologies have significantly contributed to the identification of disease-associated gene variants. However, a substantial number of patients, particularly those presenting with atypical neuromuscular phenotypes, remain genetically undiagnosed. Herein, we report a case of a Japanese patient with myasthenic symptoms in the eyelids and limbs rather than periodic paralysis having a novel heterozygous variant (c.611C&amp;gt;T) located at the 3′ end of exon 4 in SCN4A . The analysis of the proband’s SCN4A mRNA showed that this variant causes an alanine-to-valine missense change at the amino acid position of 204 (p.A204V, 39%) and a disruption of the splicing of exons 4 and 5 leading to the production of truncated Nav1.4 variant protein (p.A204Vfs*94, 4%). We anticipated that the p.A204V missense change would impair Nav1.4 function; however, the ion channel activity and membrane targeting of p.A204V Nav1.4 were found to be wild-type (WT)-like. We also examined the cytotoxicities of the p.A204V and p.A204Vfs*94 variants; however, the cell lines heterologously overexpressing these Nav1.4 variant proteins did not induce cell death any more than the WT control. Although the loss or gain of anomalous ion channel function that is commonly suspected in channelopathies was ruled out in the present case, the precise mechanism of the pathogenic role of c.611C&amp;gt;T SCN4A remains to be elucidated.

IntroductionDiagnostic errors significantly contribute to adverse events, patient harm and malpractice claims. While most research focuses on physicians, allied health professionals (AHPs) also play a critical role in diagnostic processes. Existing studies, primarily based on medical-record reviews, often overlook communication gaps and team dynamics affecting diagnostic accuracy. This study aims to (1) describe the overall characteristics and patterns of diagnostic errors reported in the national adverse-event database and (2) compare the clinical features, diagnostic processes and contributing factors between cases involving physicians and those involving AHPs.MethodsWe examined diagnostic-error reports from 1631 hospitals in the Japan Council for Quality Healthcare database (2010–2023). Cases were identified using predefined keywords, and two independent physicians assessed them using the Revised Safer Dx Instrument and Diagnostic Error Evaluation and Research (DEER) taxonomy. Contributing factors were analysed, and statistical methods explored error patterns and stakeholder comparisons.ResultsAmong 147 654 event reports, 445 cases involved diagnostic errors. The most common errors occurred in diagnostic testing, assessment and follow-up, particularly misinterpretation of pathological or radiological reports on new injuries during hospitalisation. Physicians were the primary responsible providers (79.3%), while nurses were involved in 19.3% of cases. DEER taxonomy analysis revealed that nurses were more associated with errors in presentation, history-taking and physical examination (p<0.001). Additionally, patient-related factors, observation, reporting and training played a significantly greater role in errors involving nurses than physicians (p<0.001).DiscussionBy leveraging expert-assessed unstructured data, this study provides a broader perspective on diagnostic safety. Findings highlight the critical role of AHPs in diagnostic errors. Our study underscores the need for targeted, profession-specific interventions embedded within broader interprofessional initiatives to effectively reduce diagnostic errors and enhance patient safety.

Focal myositis (FM) is a rare, localized inflammatory muscle disease that is often incorrectly diagnosed due to nonspecific symptoms, especially in the head and neck region. We present a case of FM involving the masseter muscle in a 76-year-old man, which was initially presumed to be a temporomandibular joint disorder. The patient exhibited trismus and swelling of the right cheek. Magnetic resonance imaging (MRI) showed masseter muscle swelling and high signal intensity on diffusion-weighted image (DWI). Histopathological findings showed FM with moderate inflammatory cell infiltration and muscle atrophy. Empirical treatment with sulbactam sodium and ampicillin sodium was administered, followed by corticosteroid treatment with prednisolone, which significantly improved the symptoms. Persistent trismus remained due to fibrosis, highlighting the importance of early diagnosis and intervention. This case highlights the importance of considering FM in the differential diagnosis of unilateral masticatory muscle swelling and trismus. Imaging and histopathological findings are necessary for accurate diagnosis, and early corticosteroid therapy is essential to prevent sequelae such as fibrosis. A multidisciplinary approach is essential for effective management.

We report here a rare case of a concurrent occurrence of abscesses caused byStaphylococcus aureusin the prostate, seminal vesicles, and epididymis. A 71-year-old male presented to our hospital with urinary retention, and an indwelling urethral catheter was inserted. He remained afebrile until a revisit one month laterwhen he developed a fever and left scrotal swelling. Imaging studies revealed multiple abscesses in the left lobe of the prostate, bilateral seminal vesicles, and the left epididymis. Ceftriaxone was initiated upon admission and was administered for five days before switching to cefazolin for an additional 11 days. From the sixth day of admission, levofloxacin was added to ensure adequate prostatic tissue penetration until the 18th day. Owing to his poor response to antimicrobial chemotherapy, percutaneous prostatic needle aspiration, percutaneous cystostomy, transurethral deroofing of the abscess, and left orchiectomy were performed on the eighth day. Methicillin-susceptibleS.aureuswas isolated from the urine and abscess fluid. The patient had no recurrenceat one yearpostoperatively. A prostate abscess may not manifest as fever or elevated prostate-specific antigen levels, even whenS. aureus is the causative agent, and canlead to delayed diagnosis and subsequent involvement of the seminal vesicles and epididymis.

Acute myeloid leukemia (AML) is an aggressive hematological malignancy with genetic alterations. The FMS-like tyrosine kinase 3 (FLT3) gene is frequently mutated in adult de novo AML, with two types of mutations: internal tandem duplication (ITD) and point mutations in the tyrosine kinase domain. This study aimed to investigate the impact of FLT3 inhibitors and hematopoietic cell transplantation (HCT) on survival outcomes in patients with FLT3-ITD AML in a real-world setting. We retrospectively analyzed 139 patients with FLT3-ITD-positive AML between 2012 and 2021. The median age was 63 years. In the propensity score-matched cohort, FLT3 inhibitors improved overall survival (OS) compared with patients treated without FLT3 inhibitors (3-year OS: 33.7% vs. 25.8%, p = 0.021). Patients who underwent HCT had superior outcomes to those without HCT (3-year OS: 45.3% vs. 2.2%, p < 0.0001). The combination of FLT3 inhibitors and HCT resulted in the highest OS and relapse-free survival (RFS) rates (3-year OS: 62.4%; 3-year RFS: 44.4%). Disease status before transplantation did not predict the prognosis, but use of FLT3 inhibitors increased survival in patients without complete remission before HCT. These results demonstrate the clinical impact of FLT3 inhibitors on survival outcomes in patients with FLT3-ITD-positive AML, particularly when combined with HCT. FLT3 inhibitors can improve the prognosis of AML with FLT3 mutations, especially in patients who undergo HCT.

Yezo virus is a novel virus transmitted by tick bites that causes fever with thrombocytopenia. To date, two reports have been published on patients with Yezo virus infection. However, the clinical characteristics of Yezo virus infection remain unclear. A patient who presented with fever, fatigue, headaches, and muscle pain and was admitted to our hospital. The patient had thrombocytopenia, leukopenia, and elevated liver enzyme and serum ferritin levels. The patient was diagnosed with Yezo virus and Borrelia miyamotoi coinfection based on the detection of Yezo virus in a blood sample by polymerase chain reaction and the detection of elevated serum antibody titers to Yezo virus and Borrelia miyamotoi.