Background: Role-playing is a key learning method in genetic counseling education, with facilitators playing a crucial role. Although facilitator training exists in other fields, it lacks a structured framework in the context of genetic counseling. Identifying the factors contributing to facilitator success can improve the quality of education. This study aims to examine the key factors associated with successful experiences as genetic counseling facilitators. Methods: An anonymous cross-sectional survey was conducted in September 2023 among 356 members of the Japanese Association of Certified Genetic Counselors. Results: A total of 106 responses (29.7%) were collected, with 45 participants (42.4%) possessing facilitator experience. Logistic regression analysis identified prior learning experiences (OR = 10.02, 95% CI: 1.07-93.7) and confidence as a facilitator (OR = 25.94, 95% CI: 2.27-295.96) as significant factors for successful facilitation. Prior learning experiences correlated with observing inappropriate facilitation (OR = 6.39, 95% CI: 1.25-32.76). Confidence was linked to both skill improvement opportunities (OR = 14.30, 95% CI: 1.41-145.14) and inappropriate facilitation (OR = 9.65, 95% CI: 1.67-55.67). Conclusion: Successful facilitator experiences were associated with prior learning and confidence. Inappropriate facilitation played an indirect role in facilitator success. Enhancing confidence through learning opportunities and exposure to facilitation challenges is crucial for facilitator development.

Background: The effects of helicopter emergency medical services on the treatment of cerebral infarction remains unclear. We investigated the effects of helicopter transport on outcomes in patients with cerebral infarction. Methods: This study included 1,246 patients with cerebral infarction who were assigned to two groups: patients transported by "Doctor-Heli" (DH group) and patients transported by ground ambulances (GA group). Cerebral performance category (CPC), overall performance category (OPC), and in-hospital mortality were evaluated. Multivariate logistic regression analysis was used to adjust for background factors and evaluate a subgroup of patients with severe cerebral infarction (i.e., a National Institutes of Health Stroke Scale (NIHSS) score >10). Results: The DH group included more patients with severe cerebral infarction. No difference was observed in the interval from illness onset to recombinant tissue plasminogen activator treatment between the groups; however, the interval from illness onset to interventional radiology (IR) was significantly shorter in the DH group. The DH group had a lower CPC than the GA group, but there was no significant difference in OPC. Multivariate logistic regression analysis showed that the odds ratio of DH transport for OPC1-2 was 2.33. Subgroup analysis of severe cases yielded odds ratios of 2.19 and 2.62 for CPC1-2 and OPC1-2 respectively. Conclusion: The DH group included patients with severe cerebral infarction living in remote areas and provided with emergency IR treatment. This analysis suggested that DH transport improves OPC and CPC, particularly in patients with an NIHSS scores of >10.

A 76-year-old woman was referred to our hospital for evaluation of markedly high intraocular pressures (IOPs): ≥40 mmHg in both eyes. No intraocular inflammation, pseudoexfoliation, or glaucomatous optic neuropathy was observed on ophthalmological examination. The 24-hour IOP fluctuations, measured with a Goldmann tonometer in the sitting position at 8, 12, 16, 20, and 24 o'clock, were 22/17, 33/28, 41/33, 30/22, and 30/24 mmHg, respectively, and showed a peak in the afternoon. The patient was diagnosed with ocular hypertension, and microhook trabeculotomy (μLOT) (right eye with lens reconstruction, left eye initially pseudophakic) was performed. After μLOT surgery in both eyes (4 days postoperatively in the right eye and 1 day postoperatively in the left eye), IOP decreased in both eyes to 12/15, 11/14, 12/15, 10/11, and 10/10 mmHg, and the fluctuation range was suppressed. At 3 months postoperatively (measured at 8, 12, 16, 20, 24, and 4 o'clock), the effect was maintained at 14/15, 15/19, 14/19, 11/12, 13/14, and 13/13 mmHg, respectively, but was slightly attenuated. In a patient with marked 24-hour IOP fluctuation, μLOT was effective in reducing IOP values and fluctuation.

A 38-day-old infant was referred to our hospital for evaluation of apnea, fever, and pyuria. Invasive bacterial infection, including meningitis, was suspected because of the presence of apnea. A contrast-enhanced CT scan revealed acute localized bacterial nephritis, and meningitis was ruled out. Gram-positive cocci and Gram-negative rods, ie, Enterococcus raffinosus and Escherichia coli, were isolated from a urine culture at the referring hospital. This case report describes the youngest case of E. raffinosus infection. Apnea was the main complaint, but the origin of fever was infant acute focal bacterial nephritis (AFBN) with mixed infection. In infants, bacterial infections, especially invasive bacterial infections, can result in poor outcomes and require careful evaluation and treatment. Furthermore, the possibility of AFBN should not be overlooked, because bacteriuria or leukocyturia may be absent and can flare up if antimicrobials are not administered for an adequate duration. Although ampicillin-susceptible E. raffinosus infection in our patient responded well to treatment, there have been reports of vancomycin-resistant enterococci, which highlights the importance of proper use of antimicrobial agents to avoid producing drug-resistant bacteria.

Shaggy aorta refers to an aorta with intimal roughening due to atheromatous aortic plaques. Catheterization and anticoagulation therapy can result in cholesterol emboli, potentially leading to systemic organ infarction. Contrast-enhanced computed tomography (CT) and transesophageal echocardiography are commonly used to diagnose shaggy aorta. A patient in his ninth decade of life had a history of right occipital lobe ischemic stroke, bilateral internal carotid artery stenosis, and shaggy aorta syndrome related to transfemoral cerebral angiography. Dysarthria occurred immediately after the procedure. Brain magnetic resonance imaging (MRI) confirmed cerebral infarction, and anticoagulant therapy was administered. Four days later, after observing numbness of the left 5th finger and purplish discoloration of the tips of the 2nd and 5th fingers, we performed contrast-enhanced CT and diagnosed shaggy aorta. There was no renal impairment or eosinophilia and the patient was discharged 16 days after the examination. Aortic MRI performed 1 month later revealed an unstable plaque in the vessel wall. Although we report our experience with a single patient, we recommend that patients scheduled for cerebral angiography, especially those with severe arteriosclerosis, undergo preprocedural aortic fast spoiled gradient echo MRI screening to avoid shaggy aorta syndrome.

A rectovaginal fistula (RVF) is an abnormal tract between the rectum and vagina, which requires surgical intervention in many cases. Although there are many different therapeutic approaches for RVF depending on the patients' condition, there are no established guidelines for the care of RVF. This study aimed to evaluate the results of laparoscopic colostomy in advanced cancer patients with RVF, and the safety and efficacy of this surgery. In this study, seven female advanced cancer patients with RVF were hospitalized and successfully treated with laparoscopic colostomy from 2015 to 2018 at our university hospital. Their data were retrospectively evaluated from their medical records. The early use of diverting stomas facilitated timely resumption of cancer treatment and enabled early treatment with chemotherapy or radiotherapy. Although vaginal stool leakage affected three patients, all patients recovered, experiencing neither pain nor infection during their cancer treatment. While colostomy was physically and mentally taxing for the patients, it improved the infection and pain caused by the RVF. We conclude that the early use of diverting stomas had two effects: a significant improvement in infection management and facilitation of the rapid resumption of cancer treatment.

Immune checkpoint inhibitors (ICIs) have revolutionized the treatment of many cancers, including cancers of the head and neck. Despite the promising therapeutic efficacy of ICIs, immune-related adverse events (irAEs) are a major concern. Acute tubular injury and interstitial nephritis are the most common irAEs involving the kidneys. The present patient was diagnosed as having advanced papillary squamous cell carcinoma of the head and neck. After failure of the initial treatments, including chemotherapy, nivolumab (programmed death-1 inhibitor) was introduced. Shortly after initial administration of nivolumab, the patient developed acute kidney injury with hematuria and proteinuria. A renal biopsy and his clinical course indicated a diagnosis of ICI-related IgA nephropathy. Although glomerular involvement in irAEs is rare and challenging to treatment, the present patient was successfully treated with steroids, which improved kidney function and led to complete remission, as confirmed by urinalysis.