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Rosai–Dorfman disease presenting solely with intrathoracic lesions is exceptionally rare. Herein, we report the case of a 53-year-old man presenting with a posterior mediastinal tumour. Computed tomography revealed a 7-cm soft tissue shadow in the posterior mediastinum. Positron emission tomography-computed tomography demonstrated a high maximum standardized uptake value of 10.35 in the tumour, with no evidence of lymph node or other organ involvement. Serum marker levels were within the normal range. Thoracoscopic surgery was performed to obtain a biopsy for a definitive diagnosis and treatment planning. Postoperative histological findings revealed a diffuse infiltration of eosinophilic histiocytes, lymphocytes, and plasma cells. Immunohistochemical analysis indicated positivity for S-100 protein, oct-2, and cyclin D1 in these histiocytes. Consequently, the patient was diagnosed with Rosai–Dorfman disease and is currently asymptomatic, undergoing regular monitoring without treatment as an outpatient. The absence of characteristic findings, such as bilateral cervical lymphadenopathy, posed challenges in preoperative diagnosis. [ABSTRACT FROM AUTHOR]

Background: It is clinically emergent to further understand the pathological mechanism to advance therapeutic strategy for endocrine tumors. A high amount of secretory protein with tumorigenic triggers are thought to induce unfolded protein response in endoplasmic reticulum in endocrine tumors, but its evidence is limited. Case presentation: A 40-year-old woman had an approximately 10-year history of intermittent headaches. After the incidental detection of a mass in her right adrenal gland by CT scan, she was admitted to our hospital. She had been diagnosed as type 1 Waardenburg syndrome with the symptoms of dystopia canthorum, blue iris, and left sensorineural hearing loss. Urinary catecholamine levels were markedly elevated. 123I-MIBG scintigraphy showed uptake in the mass in her adrenal gland. After the adrenalectomy, her headaches disappeared and urinary catecholamine levels decreased to normal range within 2 weeks. Genome sequencing revealed germline mutation of c.A175T (p.Ile59Phe) in transcription factor PAX3 gene and somatic novel mutation of c.1893_1898del (p. Asp631_Leu633delinsGlu) in proto-oncogene RET in her pheochromocytoma. RNA expression levels of RET were increased 139 times in her pheochromocytoma compared with her normal adrenal gland. Those of unfolded protein response markers, Bip/GRP78, CHOP, ATF4, and ATF6, were also increased in the pheochromocytoma. Conclusion: We report a rare case of pheochromocytoma with type 1 Waardenburg syndrome. This is the first case to show the activation of unfolded protein response in the pheochromocytoma with the novel somatic mutation in RET gene. Our findings may support that unfolded protein response is activated in endocrine tumors, which potentially could be a candidate of therapeutic target. [ABSTRACT FROM AUTHOR]

Background: Delayed cerebral ischemia (DCI) is a serious complication following aneurysmal SAH (aSAH) and remains a leading cause of morbidity and mortality. We investigated whether data from CT perfusion (CTP) within 24 h after onset are associated with DCI and its outcome. Methods: We retrospectively examined plain CT, CTP, and CT angiography (CTA) of aSAH patients on arrival. We measured the average mean transit time (aMTT) and compared it with several clinical factors, such as the age, WFNS grade, Fisher group, delayed cerebral infarction, cerebral vasospasm, and modified Rankin scale (mRS), at 1 month. Regions of interest (ROIs) were quantitatively determined in cortical and two basal ganglia areas. Results: Delayed cerebral ischemia (DCI) developed in 11 patients and cerebral vasospasm in 28 patients out of a total of 86 aSAH patients scanned within 24 h after onset. The average MTT was correlated with the WFNS grade ( p = 0.000), but not mRS ( p = 0.128), age ( p = 0.759), DCI ( p = 0.669), or cerebral vasospasm ( p = 0.306). On the other hand, DCI was associated with the Fisher group ( p = 0.0056), mRS ( p = 0.0052), and cerebral vasospasm ( p = 0.000). Moreover, there were no significant differences in the average MTT within 24 h after onset between territories with and without DCI, or between patients with and without DCI. Conclusions: The current findings suggest that disturbance of CT perfusion soon after the onset is associated with the WFNS grade but not with the development of DCI. Delayed cerebral ischemia may be solely caused by cerebral vasospasm due to a clot in the cistern, but not associated with early brain injury. [ABSTRACT FROM AUTHOR]

Background: Some previous studies have shown reduced levels of plasma B-type natriuretic peptide (BNP) in individuals with obesity. We aimed to estimate the relationship between BNP and abdominal fat distribution, adjusted for confounding factors. Methods: This cross-sectional study included 1806 Japanese individuals (981 men and 825 women) who underwent a medical health check-up. Analyzed data included age, sex, visceral fat area (VFA), and subcutaneous fat area (SFA) as obtained from computed tomography, blood pressure, and blood test results including BNP. Multiple linear regression analysis was used to examine the association between BNP, VFA, and SFA after adjusting for age, sex, comorbidities, and body mass index. Results: In the models analyzed separately for VFA and SFA, BNP correlated independently with VFA in multiple linear regression analysis among all subjects and in both men and women, while SFA correlated inversely with BNP in all subjects and women but not in men. In the model that included both VFA and SFA, BNP correlated independently with VFA, but SFA and BNP were not correlated in any models. Conclusion: Higher VFA showed an independent, significant association with lower BNP. In addition, the inverse correlation with BNP was stronger for VFA than for SFA. [ABSTRACT FROM AUTHOR]

Background The prognosis of patients with aneurysmal subarachnoid hemorrhage (aSAH) depends on their condition on arrival at the hospital. However, a small number of patients recover from an initially poor condition. We investigated the correlation between quantitative measures of computed tomography (CT) perfusion (CTP) on arrival and the outcomes of patients with World Federation of Neurosurgical Society (WFNS) grade V aSAH. Methods We performed plain CT, CTP, and CT angiography (CTA) in all patients with aSAH on arrival. Aneurysms were surgically obliterated in patients with stable vital signs and the presence of a brain stem response. We measured the average mean transit time (aMTT) and compared it with the modified Rankin Scale (mRS) score at 1 month. Regions of interest were identified as 24 areas in the bilateral anterior, middle, and posterior cerebral artery territories and 2 areas in the basal ganglia. Results A total of 57 patients were treated between 2007 and 2014. None of the 21 patients with aMTT >6.385 seconds achieved a favorable outcome, whereas 8 of the 36 patients with aMTT <6.385 seconds did achieve a favorable outcome ( P = 0.015). Furthermore, comparing the number of areas showing a mean transit time (MTT) >7.0 seconds among the aforementioned 8 areas and mRS, favorable outcomes were not seen in 24 patients with more than 2 such areas ( P = 0.009). Conclusion We cannot expect a favorable outcome for patients with WFNS grade V aSAH with aMTT >6.385 seconds or more than 2 of 8 areas with MTT >7.0 seconds. [ABSTRACT FROM AUTHOR]