ファイファー症候群

AIMS: Geriatric vulnerabilities may compromise short-term prognosis in acute coronary syndrome (ACS); however, the prognostic value of geriatric assessment in older adults with ACS remains insufficiently explored. This study aimed to evaluate the association between selected geriatric assessment domains and 30-day early adverse clinical events and to explore whether frailty and cognitive impairment were associated with different angiographic patterns. METHODS AND RESULTS: In a prospective observational single-center study, 211 patients aged ≥70 years hospitalized with ACS underwent assessment of frailty (FRAIL scale), functional status (Barthel Index), cognition (Pfeiffer's SPMSQ), and comorbidity burden (Charlson Comorbidity Index). Logistic regression analyses were performed, and angiographic parameters were recorded. In univariable analyses, higher FRAIL scores (OR = 1.59, 95%CI = 1.21-2.09, p = 0.001) and higher SPMSQ error counts (OR = 1.56, 95%CI = 1.15-2.10, p = 0.004) were associated with 30-day early adverse clinical events. In the clinically informed multivariable model including all geriatric domains, higher SPMSQ error counts remained associated with the outcome (OR = 1.46, 95%CI = 1.06-2.00, p = 0.020). In a secondary reduced exploratory model, FRAIL scores (OR = 1.52, 95%CI = 1.14-2.01, p = 0.004) and SPMSQ error counts (OR = 1.46, 95%CI = 1.07-1.98, p = 0.016) were retained, with modest discrimination (AUC=0.70, 95%CI = 0.61-0.79, p < 0.001). Coexisting frailty and cognitive impairment identified a subgroup at particularly high risk, with 72.7% experiencing events, and exploratory angiographic analyses showed associations with culprit lesion calcification (OR = 3.08, 95%CI = 1.16-8.15), diffuse culprit disease (OR = 3.08, 95%CI = 1.10-8.61), single-vessel disease (OR = 2.85, 95%CI = 1.11-7.35), and thrombus in non-culprit lesions (OR = 20.75, 95%CI = 1.69-254.76). CONCLUSIONS: In older adults with ACS, frailty and cognitive impairment were associated with 30-day early adverse clinical events and a different angiographic pattern in exploratory analyses. Incorporating brief nurse-administered geriatric assessment into routine ACS care may support risk stratification and multidisciplinary clinical decision-making.

Spring-assisted cranioplasty is a minimally invasive, dynamic technique for cranial expansion in craniosynostosis. This report describes its initial application in Thailand for posterior vault expansion in multisuture cases. Two patients were treated: a 14-month-old boy with secondary multisuture synostosis from a ventriculoperitoneal shunt and an 11-month-old girl with Pfeiffer syndrome. Custom springs were fabricated in-house from 316 stainless steel Kirschner wire, with forces ranging from 2.68 to 4.77 N. A 1-cm wide parieto-occipital strip craniectomy was performed, and 4 springs were placed per patient. Substantial cranial expansion was achieved. The boy's cephalic index improved from 1.29 preoperatively to 1.05 at 1 year, and the girl's normalized from 1.07 to 0.91. Operative times were 100 and 190 minutes, with blood losses of 100 mL and 20 mL, respectively. Springs were removed at 7 and 10 months postoperatively without bony encasement. The first case required ventriculoperitoneal shunt revision for hydrocephalus, highlighting a key consideration in secondary synostosis. Both children showed appropriate developmental progress at follow-up. This initial experience suggests that spring-assisted cranioplasty is a feasible, cost-effective option for posterior vault expansion in complex multisuture craniosynostosis. It provides the benefits of an internal device, reduced operative time and blood loss, and effective cranial reshaping. Careful patient selection is essential, especially for shunt-dependent cases. The technique offers a valuable surgical option in resource-limited settings.

INTRODUCTION/AIMS: Acute flaccid myelitis (AFM) is a poliomyelitis-like syndrome, characterized by severe flaccid weakness. Nerve conduction studies (NCS) and electromyography (EMG) may have a role in the diagnosis and prognostication of AFM, but have not been well studied. We aim to describe in detail electrodiagnostic studies in AFM and relate findings to outcome. METHODS: In this retrospective multi-center case series, we analyze electrodiagnostic data from patients with a probable or definite diagnosis of AFM. Patients were enrolled at 11 sites from four countries. A detailed description of NCS and EMG results is provided and findings are correlated to muscle strength and functional outcome. RESULTS: There were 85 patients included with definite or probable AFM based on AFM Working Group criteria. Patients were 54.1% male, median age 5.15 years (IQR 3.15-8.37), and median follow-up 833 days (range 40-3228). Electrodiagnostic abnormalities included decreased compound muscle action potential (CMAP) amplitude, reduced recruitment of motor unit action potentials (MUAPs), and fibrillation potentials in both affected and unaffected muscles, appearing as early as 6 days postonset and persisting beyond 7 years. CMAP amplitude and MUAP recruitment predicted muscle strength and functional status at last follow-up. Phrenic nerve studies correlated with respiratory outcomes in the small subset tested. Ten patients showed marked clinical improvement, accompanied by unexpectedly transient electrodiagnostic abnormalities. DISCUSSION: Electrodiagnostic studies in AFM reveal a distinctive pattern resembling poliomyelitis, with early-onset and persistent findings of denervation even in clinically normal muscles. The findings inform their use in diagnosis and prognostication.

Progressive multifocal leukoencephalopathy (PML) is a rare brain infection caused by JC polyomavirus (JCPyV) in immunocompromised individuals, for which no effective antiviral therapy exists. Diverse cellular therapy approaches using polyomavirus-specific T cells (PyVST) has emerged as a therapeutic option. We aimed to evaluate the real-world effectiveness of PyVST in patients with PML. We retrospectively analyzed 64 patients from 13 centers who received PyVST alongside standard care. Conditions predisposing to PML included mainly hematologic malignancies (33/64, 51.6%). One-year survival was 62% (36/58) when excluding patients whose deaths were unrelated to PML. Most patients received BK virus-specific T cells (55/64, 84.6%), isolated mainly via Interferon-γ capture system (37/64, 57.8%), and from related donors (32/64, 50%). At therapy initiation, survivors had lower modified Rankin scale (3 [IQR 3 to 4] versus 4 [IQR 4 to 5], P = .0317) and lower cerebrospinal fluid (CSF) JCPyV DNA (3.03 [IQR 2.66 to 3.47] versus 4.29 [IQR 3.31 to 4.79] log₁₀ copies/mL, P = .0037) compared to non survivors. In multivariate analysis performed on 38 patients with complete data, only CSF JCPyV DNA level was associated with survival (P = .0266). No manufacturing characteristic or HLA-matching were associated with outcome. Adverse events were rare, with PML-associated immune reconstitution inflammatory syndrome reported in 5/64 patients (7.8%) and rash in 2/64 patients (3.1%). In this uncontrolled analysis, adoptive T cell therapy yielded encouraging 1-year survival rates in patients with PML and demonstrated a favorable safety profile. Important questions remain regarding the optimal strategy for T-cell generation, as well as the specific product and recipient characteristics most likely to influence treatment outcomes.

BACKGROUND: Apert syndrome is a syndromic craniosynostosis primarily caused by pathogenic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Current prenatal diagnosis of Apert syndrome predominantly relies on ultrasound imaging in the third trimester (28 weeks of gestation to delivery), which is not conducive to early clinical decision-making. CASE PRESENTATION: In this case, prenatal ultrasound at the 20 weeks of gestation revealed craniosynostosis, oligohydramnios, and syndactyly of hands and feet in the fetus. Whole-exome sequencing (WES) followed by Sanger sequencing was performed on the affected fetus and its parents. A de novo pathogenic mutation in the FGFR2 gene was identified. Based on the fetal ultrasound findings and genetic test results, Apert syndrome was diagnosed as early as the 20 weeks of gestation (second trimester). CONCLUSIONS: The combination of prenatal ultrasound and WES enables the diagnosis of Apert syndrome in the second trimester, providing valuable support for early prenatal counseling and pregnancy management.