Showing papers by "Fabrizio Salvi published in 2017"

Amyotrophic lateral sclerosis and myasthenia gravis: association or chance occurrence?

Abstract: Very few cases of patients with myasthenia gravis (MG) who later developed amyotrophic lateral sclerosis (ALS) have been described, although some studies showed that significantly more cases than expected have ALS associated with a prior diagnosis of autoimmune diseases. Our aim was to investigate whether the association of ALS and MG was higher than expected in a population-based study and to describe the clinical features characterizing these patients. In Emilia Romagna Region of Italy, a prospective registry has been collecting all incident ALS cases since 1.1.2009. For each patient, detailed clinical information is collected by caring physicians, including comorbidities. From 1.1.2009 to 31.12.2014, 671 patients were diagnosed with ALS; five patients (0.75%) were also affected by MG. Considering Western Countries incidence rates the occurrence of both the diseases should be a really exceptional event (7.5/109), compared to our findings (1.87/107) (p < 0.01). Patients with ALS and MG had more frequently a bulbar onset and a fast progressive course. These cases of ALS after MG raise the possibility of potential shared immunological dysfunctions, which may be expression of common pathogenic mechanisms, as well as of shared disease-course modulating events.

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.

Abstract: Recently a neuropathological study challenged the view of Friedreich’s ataxia (FRDA) as a pure neurodegenerative disease proposing that some features of the disease might have a mal-developmental origin [1]. In particular, both the thoracic spinal cord cross-section and the dorsal root ganglia perikarya were smaller in autopsy cases of FRDA as compared to controls and their size did not correlate with genetic and clinical features. These findings were felt to be in line with the hypothesis made by Friedreich in 1877 that the smallness of the clavae (gracilis and cuneatus nuclei) was developmental [2]. Stimulated by the above findings and hypothesis, using in vivo MRI we serially measured in FRDA patients the cross-section of the lower medulla encompassing the gracilis and cuneatus tracts and nuclei, and the spinocerebellar and pyramical tracts that are variably affected in this disease. Eight (5 females, 3 males; mean age 32 ± 9 years) genetically proven FRDA patients and 8 (2 females, 6 males; mean age 33 ± 8 years) healthy control subjects underwent two 1.5T MRI examinations after providing an informed consent. They were object of a previous wholebrain tensor-based morphometry study [3]. The mean interval between the two MRIs was 3.8 ± 0.4 years in FRDA patients and 4.1 ± 0.3 years in controls (p = 0.21). The MRI examination included sagittal 3D T1-weighted turbo-gradient echo images for morphometry. At the time of MRIs the neurological deficit was assessed with the International Cooperative Ataxia Rating Scale [4] and the Inherited Ataxia Clinical Rating Scale [5]. For the present study, using a multi-planar reformation tool 1-mm-thick axial images perpendicular to the floor IV ventricle were obtained and one operator measured the axial cross-sectional area of the medulla at level of the obex (Fig. 1). At baseline the lower medulla cross-sectional area was significantly (p = 0.003) smaller in FRDA [median 1.45 cm, interquartile range (IQR) 0.35 cm] as compared to controls (median 1.92 cm, IQR 0.27 cm) (Fig. 2). This size did not significantly correlate with number of triplet, age at onset, disease duration, and severity of the neurological deficit. At follow-up the rate of decrease of the lower medulla cross-sectional area was not significantly different between FRDA patients (median -0.002 cm/ year, IQR 0.002 cm/year) and controls (median 0.002 cm/year, IQR 0.003 cm/year) (Fig. 2). A problem in inherited ataxias is to establish how much of the observed alterations at a given time point is congenital/mal-developmental and how much is degenerative in origin. The recessive inheritance of FRDA & Mario Mascalchi mario.mascalchi@unifi.it

Radiological differential diagnosis between fibrosis and recurrence after stereotactic body radiation therapy (SBRT) in early stage non-small cell lung cancer (NSCLC).

Abstract: Background: Parenchymal changes after stereotactic body radiation therapy (SBRT) make differential diagnosis between treatment outcomes and disease recurrence often difficult. The purpose of our study was to identify the radiographic features detectable at computed tomography (CT) scan [high-risk features (HRFs)] that allow enough specificity and sensitivity for early detection of recurrence. Methods: We retrospectively evaluated patients who underwent SBRT for inoperable early stage nonsmall cell lung cancer (NSCLC). The median delivered dose performed was 50 Gy in 5 fractions prescribed to 80% isodose. All patients underwent chest CT scan before SBRT and at 3, 6, 12, 18, 24 months after, and then annually. Each CT scan was evaluated and benign and HRFs were recorded. 18 F-fluorodeoxyglucose- CT was not used routinely. Results: Forty-five patients were included (34 males, 11 females; median age: 77 years; stage IA: 77.8%, stage IB: 22.2%; median follow-up: 21.7 months). Two year and actuarial local control was 77%. HRFs were identified in 20 patients. The most significant predictor of relapse was an enlarging opacity at 12 months (P Conclusions: Detection of HRFs is predictive of relapse with a sensibility that increases with the number of HRFs observed. This observation may allow to better define the diagnostic follow algorithm up suggesting to performing further exams only in patients with >2 HRFs.

Unusual case of spindle cell sarcoma metastases to right ventricle: a case report and a literature review.

Abstract: Cardiac metastases from sarcoma are uncommon. Due to their rarity there is not a standard of care. However, complete cardiac metastases resection is the best option but most of patients has widespread disease. In these patients palliative radiotherapy (RT) might improve symptoms and prevent further cardiac function decline. Here we present the case of a symptomatic 30-year-old woman with spindle cell sarcoma metastasis of right ventriculum and widespread disease. The patient received radiotherapy to the heart with palliative intent. Cardiac metastases represent a challenging clinic problem. Treatment should be individualized in a multidisciplinary setting, when possible surgery seems to be the best options. However, radiotherapy even in case of widespread disease can improve clinical control symptoms by reducing the mass effect.