Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by either an arterial rupture or organ perforation, which is challenging to diagnose prior to the onset of major complications. A 46-year-ol...Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by either an arterial rupture or organ perforation, which is challenging to diagnose prior to the onset of major complications. A 46-year-old male presented with sudden severe headache and left hemiplegia. Magnetic resonance imaging (MRI) revealed simultaneous cerebral infarction and subarachnoid hemorrhage (SAH) due to middle cerebral artery (MCA) dissection. Genetic testing confirmed vEDS through identification of a pathogenic COL3A1 variant (c.2438G>A). Clinicians should consider vEDS in young patients demonstrating stroke with arterial dissection, especially in the presence of distinctive facial features or a relevant family history, even if the diagnostic criteria are not fully met.
Objective Muscular dystrophy (MD) is a rare neuromuscular disorder characterized by progressive muscle weakness and the loss of ambulation (LoA). Although vascular involvement has been suggested, the determinants of the...Objective Muscular dystrophy (MD) is a rare neuromuscular disorder characterized by progressive muscle weakness and the loss of ambulation (LoA). Although vascular involvement has been suggested, the determinants of the aortic morphology in MD remain unclear. We hypothesized that the distal aortic diameters are smaller in patients with earlier LoA, potentially reflecting a reduced lower limb activity. Methods We retrospectively analyzed data of 31 male patients with MD who had undergone chest-to-pelvis computed tomography. The aortic diameters were measured at ten anatomical levels from the ascending to the terminal aorta. The primary outcome was the terminal aortic diameter; exploratory outcomes included diameters at nine additional levels. Correlations between age at LoA and aortic diameters were assessed using either Pearson or Spearman tests. Multivariable linear regression evaluated the association between the terminal aortic diameter and age at LoA, adjusting for age, the duration since LoA, systolic blood pressure, height, and MD subtype. Results The aortic diameter progressively decreased in the distal segments. Strong positive correlations were observed between the age at LoA and distal aortic diameters, including the terminal aorta (r=0.82). The age at LoA was independently associated with the terminal aortic diameter after multivariate adjustment. Conclusion This association is consistent with a potential link between a reduced lower limb activity and region-specific vascular remodeling, whereas the proximal segments supplying major abdominal organs appear to be relatively preserved. These findings highlight the potential influence of mobility-related factors on arterial morphology in neuromuscular disorders and support the need for further longitudinal studies.
Spinocerebellar ataxia type 8 (SCA8) is a relatively rare type of autosomal dominant hereditary spinocerebellar degeneration. Previously reported imaging findings have shown isolated cerebellar atrophy. We herein report...Spinocerebellar ataxia type 8 (SCA8) is a relatively rare type of autosomal dominant hereditary spinocerebellar degeneration. Previously reported imaging findings have shown isolated cerebellar atrophy. We herein report the case of a patient with a genetically confirmed diagnosis of SCA8 who exhibited T2 hyperintensity in the inferior olivary and dentate nuclei in addition to cerebellar atrophy. To the best of our knowledge, this is the first report of this specific imaging finding associated with SCA8, which may represent a characteristic imaging feature of the disease.
Treatment-emergent neuroendocrine prostate cancer (t-NEPC) is an aggressive variant arising from lineage plasticity after androgen receptor pathway inhibitor therapy. We report an 80-year-old man with metastatic prostate...Treatment-emergent neuroendocrine prostate cancer (t-NEPC) is an aggressive variant arising from lineage plasticity after androgen receptor pathway inhibitor therapy. We report an 80-year-old man with metastatic prostate adenocarcinoma treated with enzalutamide who developed lung lesions despite stable prostate-specific androgen levels. A transbronchial lung biopsy revealed poorly differentiated carcinoma without confirmation of the primary site. Suspecting t-NEPC based on his treatment history, a prostate rebiopsy confirmed the diagnosis. He was treated with carboplatin, etoposide, and durvalumab, but he later succumbed to carcinomatous meningitis. This case highlights the limitations of small metastatic biopsies and the importance of considering phenotypic transformation during prostate cancer treatment.
Objective This study aimed to investigate whether artificial intelligence could identify pancreatic ductal adenocarcinoma (PDAC) in patients aged <70 years using only routine laboratory tests (RLTs) applicable to regular...Objective This study aimed to investigate whether artificial intelligence could identify pancreatic ductal adenocarcinoma (PDAC) in patients aged <70 years using only routine laboratory tests (RLTs) applicable to regular health checkups. Methods The RLTs comprised 27 items, including blood and urine tests and the body mass index. Data were analyzed using a self-organizing map (SOM) and a Bayesian regularized neural network (BRNN). Two independent studies were conducted: Study-I compared patients with PDAC (n=46) with healthy individuals (n=72), and Study-II compared patients with PDAC (n=35) with outpatients (n=89) who were negative for PDAC via imaging. Results In Study-I, the SOM clearly separated the PDAC cluster from the healthy cluster. The BRNN analysis achieved a high diagnostic performance: for males, the sensitivity was 96.2% and specificity was 100%, for females, the sensitivity was 100% and specificity was 96.6%. In Study-II, when the study subjects were projected onto the SOM map created in Study-I, the sensitivity and specificity were 90.5% and 65.9%, respectively, for males, and 85.7% and 75.0% for females. In the BRNN analysis for Study-II, the diagnostic performance showed a sensitivity of 81.0% and specificity of 84.6% for males and 73.6% and 95.6% for females. Conclusion Although this was a small-scale pilot study, both SOM and BRNN demonstrated the potential to identify PDAC patients aged <70 years using RLTs.
Eriksson Y, Akuta N, Yamamoto S
… +15 more, Goto S, Yamamoto K, Maeshiro T, Fujiyama S, Takeuchi Y, Sezaki H, Hosaka T, Kobayashi M, Saitoh S, Arase Y, Ikeda K, Suzuki Y, Kawamura Y, Kumada H, Suzuki F
Objective Steatotic liver disease (SLD) is a prevalent chronic liver disease for which lifestyle intervention remains the first-line treatment. However, reliable biomarkers that reflect treatment responsiveness are limit...Objective Steatotic liver disease (SLD) is a prevalent chronic liver disease for which lifestyle intervention remains the first-line treatment. However, reliable biomarkers that reflect treatment responsiveness are limited. MicroRNA-122 (miR-122) is a liver-specific microRNA involved in hepatic lipid metabolism and injury. However, its clinical significance during lifestyle intervention has not yet been fully elucidated. Methods This single-center retrospective study enrolled 144 patients with SLD who underwent a 6-day inpatient individualized diet and exercise program. The serum miR-122 levels were measured at baseline and on Day 4 of hospitalization. The primary endpoint was defined as ≥10% improvement in alanine aminotransferase (ALT) levels at 6 months. Multivariate logistic regression analyses were performed to identify the factors independently associated with ALT improvement. Results The liver function and metabolic parameters improved significantly at 6 months. The median ALT improvement rate was 13.4%. An exploratory receiver operating characteristic analysis demonstrated that baseline miR-122 moderately discriminated against ALT improvement ≥10% (area under the curve [AUC] 0.663, 95% confidence interval [CI] 0.572-0.753). In a multivariate analysis, the baseline miR-122 was independently associated with ALT improvement after adjusting for age, sex, alcohol consumption, body mass index, and baseline ALT. Early changes in miR-122 on Day 4 were not independently associated with the 6-month outcomes. Conclusion Individualized dietary and exercise therapy based on a multifaceted approach is effective for SLD. The baseline serum miR-122 levels were associated with a biochemical ALT improvement following lifestyle intervention in patients with SLD. Circulating miR-122 may serve as a response-associated biomarker reflecting the biochemical responsiveness to lifestyle intervention.
Wernicke's encephalopathy (WE) is a life-threatening neuropsychiatric syndrome resulting from thiamine deficiency. Alcohol misuse is the main cause. However, non-alcoholic cases, including those associated with hyperemes...Wernicke's encephalopathy (WE) is a life-threatening neuropsychiatric syndrome resulting from thiamine deficiency. Alcohol misuse is the main cause. However, non-alcoholic cases, including those associated with hyperemesis gravidarum and cancer, have also been reported. We herein report a case of WE in a patient with G4 stage, non-dialysis-dependent chronic kidney disease (CKD). The patient strongly believed that an extremely-low-protein diet would prevent the development of CKD. His estimated daily thiamine intake (0.37 mg) was less than one-third of the recommended level (1.3 mg). This case indicates the diverse etiologies of WE and provides insights into nutritional management for patients with CKD.
Objective To examine the association between the guideline-directed medical therapy (GDMT) intensity at discharge and the long-term prognosis in patients with heart failure (HF) with a reduced ejection fraction (HFrEF) a...Objective To examine the association between the guideline-directed medical therapy (GDMT) intensity at discharge and the long-term prognosis in patients with heart failure (HF) with a reduced ejection fraction (HFrEF) and renal dysfunction. Methods We retrospectively analyzed the data of 626 patients between September 2015 and July 2023. The GDMT score, based on the dose and type, was classified by the median into low-GDMT (≤4) and high-GDMT (≥5) groups. The primary outcomes were all-cause mortality or HF rehospitalization. Patients The patients admitted with HFrEF, left ventricular ejection fraction <40%, and an estimated glomerular filtration rate <60 mL/min/1.73 m at discharge were included. Results The median GDMT score was 4, and 265 patients (42%) developed the primary outcome during a median follow-up of 24 months. The low-GDMT group had an older age, a reduced renal function, and higher B-type natriuretic peptide (BNP) levels. The incidence of the primary outcome was significantly higher in the low-GDMT group (log-rank p=0.001). In a multivariate analysis, a low GDMT score independently predicted the primary outcomes (hazard ratio: 1.432; 95% confidence interval: 1.087-1.886, p=0.011). The factors associated with low GDMT scores included an older age, higher BNP levels, an absence of diabetes, an absence of implantable cardioverter-defibrillator or cardiac resynchronization therapy, and an absence of oral anticoagulants. Conclusion A higher GDMT score at discharge was significantly associated with an improved prognosis in patients with HFrEF and renal dysfunction. The GDMT score may be a useful tool for assessing treatment appropriateness in this high-risk population.
We report the case of an 8-year-old girl with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), who presented with a symptomatic epidural mass at the initial diagnosis. She had persistent back pain and mild neurol...We report the case of an 8-year-old girl with B-cell precursor acute lymphoblastic leukemia (BCP-ALL), who presented with a symptomatic epidural mass at the initial diagnosis. She had persistent back pain and mild neurological symptoms. Magnetic resonance imaging (MRI) revealed an epidural mass extending from L2 to the sacrum without spinal cord compression. A bone marrow examination confirmed BCP-ALL. A biopsy was deferred because of procedural risks, and systemic chemotherapy combined with corticosteroids was initiated. Her symptoms resolved rapidly, and follow-up MRI showed a marked regression of the mass. In selected patients without severe neurological deficits, careful observation after chemotherapy initiation may precede invasive diagnostic procedures.
Objective The perioperative cardiac risk associated with non-cardiac surgery in patients with significant coronary artery stenosis has not been fully determined. This study aimed to assess cardiac events after non-cardia...Objective The perioperative cardiac risk associated with non-cardiac surgery in patients with significant coronary artery stenosis has not been fully determined. This study aimed to assess cardiac events after non-cardiac surgery in patients with or without coronary artery stenosis (CAS) based on pre-operative coronary angiography. Methods This single-center, observational study retrospectively analyzed data from 809 patients without a history of percutaneous coronary intervention or coronary artery bypass grafting who underwent coronary angiography before non-cardiac surgery for risk assessment. After excluding 94 patients who underwent preoperative coronary revascularization, 715 (215 with CAS and 500 without CAS) were assessed. The occurrence of cardiac events, including cardiac death, non-fatal myocardial infarction, the requirement for urgent revascularization, worsening heart failure, worsening angina symptoms, and ventricular tachycardia/fibrillation within 30 days of surgery, was investigated. Results The mean age of the patients was 70.3±9.7 years, and 72.7% were men. Patients with CAS were more likely to be men and had diabetes mellitus and dyslipidemia compared to those without CAS. Regarding perioperative cardiac risk, 401 (56.1%) non-cardiac surgical procedures were categorized as having a high cardiac risk, 248 (34.7%) as intermediate, and 66 (9.2%) as low. Within 30 days of non-cardiac surgery, no significant difference was observed in the occurrence of cardiac events between the patients with and without CAS (1.9% vs. 1.4%, p=0.74). Conclusion The findings suggest that significant CAS is not necessarily associated with an increased perioperative risk of cardiac events.
We describe a case of systemic lupus erythematosus (SLE) that was initially misdiagnosed as syphilis because both non-treponemal and treponemal serological tests were positive. A 16-year-old female presented with lymphad...We describe a case of systemic lupus erythematosus (SLE) that was initially misdiagnosed as syphilis because both non-treponemal and treponemal serological tests were positive. A 16-year-old female presented with lymphadenopathy and was treated for syphilis. However, further evaluation revealed highly active SLE with neuropsychiatric and renal involvement. The syphilis serology results converted to negative following immunosuppressive therapy. This case highlights an important diagnostic pitfall: in patients with suspected autoimmune diseases, both non-treponemal and treponemal tests may yield false-positive results, and syphilis serology should therefore be interpreted in conjunction with the clinical findings and disease context.
Ota H, Nagamatsu H, Tomishima K
… +13 more, Ishii S, Fujisawa T, Takasaki Y, Namima D, Takahashi S, Fukuma T, Kabemura D, Ikemura M, Ikoma I, Jimbo Y, Tobari M, Maruyama H, Isayama H
Objective Intrahepatic cholangiocarcinoma (iCCA) is an aggressive malignancy with limited treatment options in the unresectable setting. Although gemcitabine plus cisplatin-based chemotherapy combined with immune checkpo...Objective Intrahepatic cholangiocarcinoma (iCCA) is an aggressive malignancy with limited treatment options in the unresectable setting. Although gemcitabine plus cisplatin-based chemotherapy combined with immune checkpoint inhibitors is the current first-line standard of care, clinical outcomes remain limited. Hepatic arterial infusion chemotherapy (HAIC) may provide locoregional tumor control in selected patients. We evaluated the feasibility and local antitumor activity of HAIC with Lipiodol ("New FP," NFP) in unresectable iCCA, with gemcitabine plus cisplatin (GC) presented for reference. Methods We retrospectively reviewed data of patients with unresectable iCCA treated with NFP or GC between March 2015 and March 2023 at a single institution. The tumor response was assessed using RECIST 1.1. Adverse events were graded according to CTCAE v5.0. Overall survival (OS) and progression-free survival (PFS) were estimated using the Kaplan-Meier method. Results Thirty patients were included (NFP/GC, 15/15). Prior treatments were more common in the NFP group, whereas all patients in the GC group received GC as first-line therapy. In the NFP group, RECIST responses were CR/PR/SD/PD in 0/5/8/2 patients, yielding a disease control rate of 86.7% and a median tumor reduction of 32.9%. Three patients underwent conversion surgery after tumor downstaging with NFP. The median OS and PFS were 338 and 225 days in the NFP group and 269 and 97 days in the GC group, respectively; the between-cohort survival outcomes are presented descriptively. Treatment discontinuation due to adverse events occurred in four of 15 patients in the NFP group and in 10 of 15 in the GC group. Conclusion In this pilot retrospective study, HAIC with NFP demonstrated a favorable local antitumor activity in selected patients with unresectable iCCA. These findings are exploratory and warrant further investigation, including prospective evaluation and integration with contemporary systemic therapies.
Lower limb vasculitis is occasionally reported as a muscle-limited form of polyarteritis nodosa or antineutrophil cytoplasmic antibody-associated vasculitis; however, spontaneous resolution is rare. In this report, we de...Lower limb vasculitis is occasionally reported as a muscle-limited form of polyarteritis nodosa or antineutrophil cytoplasmic antibody-associated vasculitis; however, spontaneous resolution is rare. In this report, we describe two patients with lower limb muscle symptoms. Both patients without organ involvement, except for the lower limb muscles, showed spontaneous resolution. We herein present the existing literature and discuss its diagnosis and treatment. Based on this review and our experience with two cases, we considered the factors contributing to spontaneous resolution.
Hanatani JI, Sato S, Shibasaki N
… +14 more, Shioya K, Komeda Y, Takami M, Asada S, Iwai S, Shibamoto A, Fujinaga Y, Kitagawa K, Nishimura N, Kaji K, Namisaki T, Mitoro A, Takeda M, Yoshiji H
A 73-year-old woman predominantly presented with diarrhea, accompanied by abdominal pain and hematochezia. Colonoscopy revealed multiple colonic ulcers with skip lesions, and a biopsy displayed small-vessel vasculitis, l...A 73-year-old woman predominantly presented with diarrhea, accompanied by abdominal pain and hematochezia. Colonoscopy revealed multiple colonic ulcers with skip lesions, and a biopsy displayed small-vessel vasculitis, leading to a diagnosis of granulomatosis with polyangiitis (GPA). Corticosteroid therapy improved the ulcers; however, cicatricial stricture developed at the splenic flexure, which was successfully managed with endoscopic balloon dilation (EBD). This rare case of GPA, predominantly presenting with gastrointestinal symptoms, underscores the significance of considering vasculitis in unexplained gastrointestinal lesions and demonstrates the effectiveness of EBD as a minimally invasive treatment for cicatricial stricture secondary to GPA.
Immunoglobulin A vasculitis (IgAV) is a systemic vasculitis characterized by IgA deposition within the vessel walls. In recent years, an increasing number of IgAV cases associated with tuberculosis infection have been re...Immunoglobulin A vasculitis (IgAV) is a systemic vasculitis characterized by IgA deposition within the vessel walls. In recent years, an increasing number of IgAV cases associated with tuberculosis infection have been reported. We present the case of a 72-year-old man who developed IgAV after the initiation of treatment for pulmonary tuberculosis, with ethambutol considered to be the causative agent based on the clinical course. In most cases, it is difficult to identify the exact etiology of IgAV, and no standardized management strategy has yet been established. Nevertheless, when drug-induced IgAV cannot be excluded, discontinuation of the suspected drug should be prioritized.
PURPOSE: To explore the relationship between the substantia nigra and the locus coeruleus volumes (SNV and LCV, respectively) measured with 3D neuromelanin-sensitive magnetic resonance imaging (NMI) and motor/non-motor s...PURPOSE: To explore the relationship between the substantia nigra and the locus coeruleus volumes (SNV and LCV, respectively) measured with 3D neuromelanin-sensitive magnetic resonance imaging (NMI) and motor/non-motor symptoms after deep brain stimulation (DBS) in patients with advanced Parkinson's disease (PD). METHODS: The cohort included 34 patients with PD who underwent subthalamic DBS and seven healthy controls. SNVs and LCVs were measured in 3D NMI images. The association of SNVs and LCVs with the clinical characteristics was evaluated using partial correlation analyses, controlling for age and disease duration, with p-values adjusted using the Bonferroni correction. Pre-DBS dopamine transporter (DAT)-specific binding ratio (SBR) was also evaluated. RESULTS: SNV and LCV were significantly smaller in the PD group than in the control group. After adjusting for covariates and multiple comparisons, SNV showed no significant correlations with the clinical scores. However, LCV exhibited significant negative correlations with the pre-DBS PDSS-2 score (r=-0.585, adjusted p=0.004) and the 1-year post-DBS PDQ-39 mobility score (r=-0.557, adjusted p=0.003). In contrast, the pre-DBS DAT SBR was significantly correlated with execution time on the pre-DBS TMT-A (r=-0.575, adjusted p=0.006) and the 1-year post-DBS RCPM score (r=0.491, adjusted p=0.044). CONCLUSION: 3D NMI provides prognostic information in advanced PD, complementing DAT SPECT. LCV correlates with sleep quality and the mobility-related quality of life after DBS, whereas DAT SBR sensitively reflects cognitive processing speed and visuospatial abilities.
Objective Tirzepatide, a dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist, has been shown to improve hepatic inflammation and steatosis in patients with type 2...Objective Tirzepatide, a dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist, has been shown to improve hepatic inflammation and steatosis in patients with type 2 diabetes. However, whether its effects on Fibrosis-4 (FIB-4), a surrogate marker of liver fibrosis, differ between patients naїve to GLP-1 receptor agonists (GLP-1RAs) and those who have switched from a GLP-1RA remains unclear. Methods In this single-center retrospective study, 65 Japanese patients with type 2 diabetes received tirzepatide for ≥6 months (GLP-1RA-naïve: n=15; GLP-1RA-treated: n=50). The primary outcome was change in the FIB-4. The secondary endpoints included changes in glycated hemoglobin (HbA1c), body weight, urinary protein, and estimated glomerular filtration rate (eGFR). Multivariable analyses were performed to identify the predictors of FIB-4 improvement. Results FIB-4 significantly decreased in the GLP-1RA-naïve group (from 1.55±1.01 to 1.25±0.74, Δ-0.26±0.32, p<0.01) but not in the GLP-1RA-treated group (Δ-0.02±0.23), with a significant between-group difference (p<0.05). HbA1c decreased in both groups, with a greater reduction in GLP-1RA-naïve patients (Δ-2.0±1.3% vs. -1.0±1.3%, p<0.01). Body weight decreased significantly in both groups (-3.5±5.5 kg vs. -2.2±3.5 kg), with no between-group difference. A multivariable analysis identified age, baseline FIB-4, and GLP-1RA-naïve status as independent predictors of FIB-4 reduction. Conclusion Tirzepatide significantly reduced FIB-4, particularly in patients who were GLP-1RA-naïve, and produced substantial reductions in HbA1c and body weight. As an exploratory and hypothesis-generating analysis, these findings suggest that initiating tirzepatide in GLP-1RA-naïve patients may be associated with favorable changes in fibrosis-related risk markers in patients with type 2 diabetes at a high risk of liver fibrosis.