Publications by authors named "Tufano L"

Immunotherapy is increasingly used in advanced non-small-cell lung cancer (NSCLC), offering a significant anti-tumor response, as well as causing rising immune-related adverse effects. The incidence of immune checkpoint inhibitor-induced myocarditis-myositis-myasthenia gravis is increasing and particularly concerning due to its high mortality rate. Prompt recognition, diagnosis, and management are crucial.

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  • FSHD is a myopathy linked to changes in DNA methylation at the D4Z4 locus, and this study evaluates the effectiveness of a methylation assay as a diagnostic tool.
  • The research involved 218 individuals suspected of having FSHD, comparing traditional molecular testing with the new methylation assay to assess accuracy and consistency.
  • The refined methylation assay showed high sensitivity (90%), specificity (100%), and accuracy (93%), indicating its potential for early detection, even in asymptomatic individuals with a family history of FSHD.
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Objectives: Neurogenic muscle hypertrophy (NMH) is a rare condition characterized by focal muscle hypertrophy caused by chronic partial nervous injury. Given its infrequency, underlying mechanisms remain poorly understood. Inspired by two clinical cases, we conducted a systematic review to gain insights into the different aspects of NMH.

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Introduction: Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. The aim of this study was to investigate the usefulness of longitudinal muscle MRI in detecting disease activity and progression in DM1, and to better characterize muscle edema, fat replacement and atrophy overtime.

Materials And Methods: This is a prospective, observational, longitudinal study including 25 DM1 patients that performed at least two muscle MRIs.

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Objective: To test the complement inhibitor eculizumab in the treatment of MG exacerbation during therapy with the immune-checkpoint inhibitor (ICI) pembrolizumab, avoiding its discontinuation, which could be detrimental to oncologic course.

Methods: A 76-year-old male with non-thymomatous generalized anti-AchR + MG (MGFA class IVB), during treatment with pembrolizumab for colorectal cancer, developed a severe myasthenic exacerbation, refractory to steroids and IvIg. Eculizumab was started, without pembrolizumab discontinuation.

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  • - Mitochondrial alterations are frequently observed in muscle biopsies of sporadic inclusion body myositis (s-IBM) and polymyositis with mitochondrial pathology, but they are less common in dermatomyositis (DM), where their impact on treatment outcomes remains unclear.
  • - A case study is presented involving a 77-year-old woman with anti-Mi-2 positive dermatomyositis who exhibited severe muscle weakness and significant mitochondrial abnormalities, showing poor response to standard therapies but some improvement with anti-JAK treatment.
  • - The findings suggest that mitochondrial dysfunction could indicate greater disease severity in DM, leading to worse treatment responses, and supports the exploration of JAK-inhibitors as a potential option for cases with mitochondrial abnormalities
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Introduction: Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) presymptomatic carriers often show preclinical abnormalities at small fiber-related diagnostic tests. However, no validated biomarker is currently available to use for presymptomatic carriers' follow-up, thus helping therapeutic decision making. Our study aimed at assessing nerve conduction study (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late-onset ATTRv presymptomatic carriers and to evaluate whether they correlated with predicted age of disease onset (PADO).

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Introduction: Muscle ultrasound is a fast, non-invasive and cost-effective examination that can identify structural muscular changes by assessing muscle thickness and echointensity (EI) with a quantitative analysis (QMUS). To assess applicability and repeatability of QMUS, we evaluated patients with genetically confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1), comparing their muscle ultrasound characteristics with healthy controls and with those detected by MRI. We also evaluated relationships between QMUS and demographic and clinical characteristics.

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Introduction: Myasthenia gravis-inflammatory myopathy (MG-IM) association has been rarely reported as specific clinical entity characterized by variable myositis manifestations, ranging from subclinical to diffuse muscle involvement with characteristic distal upper limb weakness. Although, in view of this, it has been hypothesized that distal muscle weakness in MG-IM could be due to the muscle inflammation instead of a pure neuromuscular transmission impairment, a biopsy-proven myositis process of distal muscles of upper limbs has not yet been provided.

Methods: We report on clinical, immunological, and myopathological characterization of a novel case affected by MG-IM association showing the typical distal upper limb weakness, including muscle biopsy of a weak forearm muscle.

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  • The study investigates the effectiveness of muscle MRI as a tool to assess disease activity, severity, and treatment response in patients with immune-mediated necrotizing myopathy (IMNM), a severe form of inflammatory muscle disease.
  • Researchers analyzed data from 22 IMNM patients, focusing on MRI findings in relation to treatment timing, demographic factors, and clinical characteristics.
  • Results showed that early MRI identified more affected muscles, with higher initial STIR% linked to more advanced disease and greater clinical disability over time, suggesting MRI can be a valuable prognostic tool for IMNM.
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Background: Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mechanisms of muscle weakness, and to identify potential imaging biomarkers for disease activity and severity.

Methods: One hundred and thirty-four DM1 patients underwent a cross-sectional muscle magnetic resonance imaging (MRI) study.

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To describe a temporal association between COVID-19 vaccine administration and multiple sclerosis (MS) relapses. This case series study was collected in four MS Centres in Central Italy, using data from 16 MS patients who received COVID-19 vaccination and presented both clinically and radiologically confirmed relapses between March and June 2021. We collected patients' relevant medical history, including demographics, MS clinical course, disease-modifying treatment (DMT) received (if applicable), and data from MRI scans obtained after the COVID-19 vaccination.

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Background And Purpose: Cardiac involvement is observed in about 80% of subjects with myotonic dystrophy type 1 (DM1) and is mainly characterized by cardiac conduction and/or rhythm abnormalities (CCRAs), possibly leading to sudden cardiac death (SCD). Our objective was to investigate whether the gender difference may influence the cardiac involvement and SCD in DM1.

Methods: We analyzed prevalence and incidence of cardiological abnormalities in males versus females in 151 consecutive DM1 patients over a 35-year follow-up period.

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HEMOLYTIC UREMIC SYNDROME POST-PARTUM: We describe a case of a 37-year-old woman admitted for severe renal failure to our hospital immediately after the delivery by caesarean section of twins. She had anuria, anemia, and moderate thrombocytopenia. A diagnosis of hemolytic-uremic syndrome was made.

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We have summed up current knowledge about the formation and lysis of corpus luteum with the co-ordinate intervention of luteotrophic and luteolytic factors. Then we re-examined the function of the corpus luteum in the physiologic menstrual cycle and in the first period of pregnancy, with special attention to luteal insufficiency as a cause of endocrine miscarriage.

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Antibiotic prophylaxis reduces the incidence of infections after some types of surgical interventions; in Obstetrics it can prevent infections in high risk situations. Infections can occur in particular situations, even in cesarean sections (CS) at low risk. The incidence of puerperal endometritis is variable in literature, while the incidence of pelvic or surgical wound infections is 3.

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