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PURPOSE: Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare potentially reversible encephalopathy associated with an autoimmune process against proteins deposited in the walls of cortical and leptomeningeal brain vessels. Definite diagnosis requires histopathological features of vascular inflammation and amyloid deposition from brain biopsy. Clinical-neuroradiological criteria have been recently introduced and validated to reduce the need for biopsy. The purpose of this paper is to report a historical retrospective review of clinical-neuroradiological follow-up of two patients with probable CAA-ri and five patients with a reasonably probable suspect of CAA-ri (4 females, 3 males, patient's age at admission: 66-79 years) seen at our institution between 2007 and 2021, focusing on clinical and neuroradiological awareness to this entity and variable response to immunotherapy. MATERIALS AND METHODS: Clinical features at presentation included subacute to acute confusion (6/7), seizures (4/7), cognitive impairment (5/7), and focal neurological signs (3/7). Neuroradiology included braincomputed tomography followed by magnetic resonance imaging. Infectious diseases and autoimmune workups were then performed. RESULTS: CSF analysis was performed in two patients. Cerebral angiography was performed in two patients, to rule out vascular malformations. Hemorrhagic posterior reversible encephalopathy syndrome has been suspected in two patients. Four patients underwent immunotherapy with corticosteroids followed by reduction of brain dysfunctions. Three patients did not undergo immunotherapy but underwent clinical and/or neuroradiological remission. CONCLUSIONS: Patients with CAA-ri present a rare steroid-responsive acute to subacute brain dysfunction. Thus, it has to be known and recognized both clinically and neuroradiologically. Spontaneous clinical and/or neuroradiological improvement is possible in patients with mild symptoms.
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Angiopatia Amiloide Cerebral , Síndrome da Leucoencefalopatia Posterior , Masculino , Feminino , Humanos , Idoso , Síndrome da Leucoencefalopatia Posterior/complicações , Seguimentos , Angiopatia Amiloide Cerebral/complicações , Angiopatia Amiloide Cerebral/diagnóstico por imagem , Angiopatia Amiloide Cerebral/terapia , Inflamação/diagnóstico por imagem , Inflamação/terapia , Inflamação/complicações , Imageamento por Ressonância Magnética/métodosRESUMO
BACKGROUND: Cardiac magnetic resonance (CMR) is central in the diagnosis and prognostic stratification of acute myocarditis (AM) but the timing of repeated CMR scans to assess edema resolution and late gadolinium enhancement (LGE) stabilization remain unclear. We assessed edema and LGE evolution over 12 months to identify the optimal timing of repeat CMR evaluation in AM. METHODS AND RESULTS: Thirty-three consecutive patients with AM underwent CMR at clinical presentation (CMR-1), after 3 months (CMR-2) and after 12-months (CMR-3). CMR included assessment of edema and LGE, left ventricular ejection fraction (LVEF) and left ventricular mass index (LVMi). After CMR-3 patients were followed-up every three-months by clinical evaluation, Holter-monitoring, and echocardiography. All patients had edema and LGE at CMR-1. At CMR-2 edema-positive segments (0.42 ± 0.34 vs. 3.18 ± 2.33, p < 0.005), LGE (4.98 ± 4.56 vs. 9.60 ± 8.58 g, and 4.22 ± 3.97% vs 7.50 ± 5.61%) and LVMi (69.82 ± 11.83 vs 76.06 ± 13.13 g/m2) (all p < 0.0001) significantly reduced, while LVEF (63.12 ± 5.47% vs.61.15 ± 6.87% p < 0.05) significantly improved, compared to CMR-1. At CMR-2 edema persisted in 7 patients (21%) but resolved at CMR-3 with no further changes of LVMi, LVEF and LGE. During follow-up (85 ± 15 months), 5 (15%) patients showed persistent ventricular arrhythmias. Univariate predictors of arrhythmic persistence were LGE extension at CMR-2 and CMR-3 (both p < 0.05), but not at CMR-1 (p = 0.07). CONCLUSIONS: Most patients with uncomplicated AM show edema resolution with LGE stabilization after 3 months. Further CMR evaluations should be limited to patients with persisting edema at this time. LGE extent measured after edema resolution is associated with persistent ventricular arrhythmias.
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Miocardite , Humanos , Miocardite/diagnóstico , Volume Sistólico , Função Ventricular Esquerda , Meios de Contraste , Seguimentos , Imagem Cinética por Ressonância Magnética/métodos , Gadolínio , Espectroscopia de Ressonância Magnética , Arritmias Cardíacas , Edema , Valor Preditivo dos TestesRESUMO
Neuroimaging plays a key role in the diagnosis and differentiation of brain metastases (BM) in patients with known or unknown malignancies. Computed tomography and magnetic resonance imaging are the key imaging modalities used in the detection of BM. Advanced imaging techniques including proton magnetic resonance spectroscopy, magnetic resonance perfusion, diffusion weighted imaging, and diffusion tensor imaging may aid in arriving at the correct diagnosis, in particular cases, such as newly diagnosed solitary enhancing brain lesions in patients without known malignancy. Imaging is also performed to predict and/or assess the efficacy of treatment, and to differentiate residual or recurrent tumors from therapy-related complications. Furthermore, the recent advent of artificial intelligence is opening up a vast scenario for the analysis of quantitative information deriving from neuroimaging. In this image-rich review, we provide an up-to-date overview on the application of imaging in patients with BM. We describe typical and atypical imaging findings of parenchymal and extra-axial BM on Computed tomography, magnetic resonance imaging, and positron emission tomography, focusing on the role of advanced imaging techniques, that can serve as problem-solving tools in the management of patients with BM.
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Neoplasias Encefálicas , Imagem de Tensor de Difusão , Humanos , Inteligência Artificial , Neoplasias Encefálicas/diagnóstico por imagem , Neuroimagem/métodos , Tomografia por Emissão de Pósitrons , Imageamento por Ressonância Magnética/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologiaRESUMO
Background Liquid biopsy is mainly used to identify tumor cells in pulmonary neoplasms. It is more often used in research than in clinical practice. The BL-MOL-AR study aims to investigate the efficacy of next-generation sequencing (NGS) and clinical interpretation of the circulating free DNA (cfDNA) levels. This study reports the preliminary results from the first samples analyzed from patients affected by various neoplasms: lung, intestinal, mammary, gastric, biliary, and cutaneous. Methods The Biopsia Liquida-Molecolare-Arezzo study aims to enroll cancer patients affected by various malignancies, including pulmonary, intestinal, advanced urothelial, biliary, breast, cutaneous, and gastric malignancies. Thirty-nine patients were included in this preliminary report. At time zero, a liquid biopsy is executed, and two types of NGS panels are performed, comprising 17 genes in panel 1, which is already used in the routine tissue setting, and 52 genes in panel 2. From the 7th month after enrollment, 10 sequential liquid biopsies are performed up to the 17th month. The variant allele frequency (%) and cfDNA levels (ng/mL) are measured in every plasmatic sample. Results The NGS results obtained by different panels are similar even though the number of mutations is more concordant for lung pathologies. There are no significant differences in the actionability levels of the identified variants. Most of the molecular profiles of liquid biopsies reflect tissue data. Conclusions Preliminary data from this study confirm the need to clarify the limitations and potential of liquid biopsy beyond the lung setting. Overall, parameters related to cfDNA levels and variant allele frequency could provide important indications for prognosis and disease monitoring.
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Idiopathic normal pressure hydrocephalus (iNPH) is a syndrome that comprises a triad of gait disturbance, dementia and urinary incontinence, associated with ventriculomegaly in the absence of elevated intraventricular cerebrospinal fluid (CSF) pressure. It is important to identify patients with iNPH because some of its clinical features may be reversed by the insertion of a CSF shunt. The diagnosis is based on clinical history, physical examination and brain imaging, especially magnetic resonance imaging (MRI). Recently, some papers have investigated the role of diffusion tensor imaging (DTI) in evaluating white matter alterations in patients with iNPH. DTI analysis in specific anatomical regions seems to be a promising MR biomarker of iNPH and could also be used in the differential diagnosis from other dementias. However, there is a substantial lack of structured reviews on this topic. Thus, we performed a literature search and analyzed the most recent and pivotal articles that investigated the role of DTI in iNPH in order to provide an up-to-date overview of the application of DTI in this setting. We reviewed studies published between January 2000 and June 2020. Thirty-eight studies and four reviews were included. Despite heterogeneity in analysis approaches, the majority of studies reported significant correlations between DTI and clinical symptoms in iNPH patients, as well as different DTI patterns in patients with iNPH compared to those with Alzheimer or Parkinson diseases. It remains to be determined whether DTI could predict the success after CSF shunting.
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Imagem de Tensor de Difusão/métodos , Hidrocefalia de Pressão Normal/diagnóstico por imagem , Derivações do Líquido Cefalorraquidiano , Diagnóstico Diferencial , Humanos , Hidrocefalia de Pressão Normal/cirurgiaRESUMO
This report describes the case of a patient with a chronic pilonidal cyst developed squamous cell carcinoma. The case was treated with primary radical excision, followed adjuvant radiation and chemiotherapy. Recurrence following such treatment was high and prognosis poor compared with non melanoma skin cancer.
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Neoplasias Abdominais/etiologia , Carcinoma de Células Escamosas/etiologia , Seio Pilonidal/complicações , Adulto , Doença Crônica , Humanos , Masculino , Períneo , Seio Pilonidal/patologiaRESUMO
Amyloidosis may involve the respiratory system with different clinical-radiological-functional patterns which are not always easy to be recognized. A good level of knowledge of the disease, an active integration of the pulmonologist within a multidisciplinary setting and a high level of clinical suspicion are necessary for an early diagnosis of respiratory amyloidosis. The aim of this retrospective study was to evaluate the number and the patterns of amyloidosis involving the respiratory system. We searched the cases of amyloidosis among patients attending the multidisciplinary rare and diffuse lung disease outpatients' clinic of Pulmonology Unit of the Hospital of Arezzo from 2007 to 2012. Among the 298 patients evaluated during the study period, we identified three cases of amyloidosis with involvement of the respiratory system, associated or not with other extra-thoracic localizations, whose diagnosis was histo-pathologically confirmed after the pulmonologist, the radiologist, and the pathologist evaluation. Our experience of a multidisciplinary team confirms that intra-thoracic amyloidosis is an uncommon disorder, representing 1.0% of the cases of rare and diffuse lung diseases referred to our center. The diagnosis of the disease is not always easy and quick as the amyloidosis may involve different parts of the respiratory system (airways, pleura, parenchyma). It is therefore recommended to remind this orphan disease in the differential diagnosis of the wide clinical scenarios the pulmonologist may intercept in clinical practice.