Chiara De Fino

MRI pattern recognition in sporadic Inclusion Body Myositis

Introduction: In sporadic inclusion‐body myositis (IBM), additional tools are needed to confirm the diagnosis, particularly in clinically atypical or pathologically unproven patients. The aims of this study were to define the pattern of muscle MRI in IBM and to assess its accuracy in differentiating IBM from other myopathies that overlap with it clinically or pathologically. Methods: Blind assessment was done on the scans of 17 definite IBM, 2 possible IBM, and 118 patients with other myopathies. Results: The diagnostic accuracy to detect definite IBM was 95% for the typical pattern (with 100% specificity) and 97% for both typical and consistent patterns (with 97% specificity). Conclusions: Muscle MRI is an accurate tool for diagnostic work‐up of suspected IBM patients and may be particularly helpful in patients with early disease or who lack the classical IBM pathology. Muscle Nerve 52: 956–962, 2015

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.

Introduction: In sporadic inclusion‐body myositis (IBM), additional tools are needed to confirm the diagnosis, particularly in clinically atypical or pathologically unproven patients. The aims of this study were to define the pattern of muscle MRI in IBM and to assess its accuracy in differentiating IBM from other myopathies that overlap with it clinically or pathologically. Methods: Blind assessment was done on the scans of 17 definite IBM, 2 possible IBM, and 118 patients with other myopathies. Results: The diagnostic accuracy to detect definite IBM was 95% for the typical pattern (with 100% specificity) and 97% for both typical and consistent patterns (with 97% specificity). Conclusions: Muscle MRI is an accurate tool for diagnostic work‐up of suspected IBM patients and may be particularly helpful in patients with early disease or who lack the classical IBM pathology. Muscle Nerve 52: 956–962, 2015

Second-line therapy with fingolimod for relapsing-remitting multiple sclerosis in clinical practice: the effect of previous exposure to natalizumab.

Background: To evaluate efficacy and safety of fingolimod for relapsing-remitting multiple sclerosis, particularly in patients previously exposed to natalizumab. Method: Prospective observational single-centre second-line cohort study. Results: Among 71 patients treated with fingolimod 0.5 mg/day for a mean duration of 21.75 w 12.60 months, the annualized relapse rate was 0.66 (C.I. 95% 0.27-1.05) with a significant difference between 26 patients with prior natalizumab exposure (1.15; C.I. 95% 0.12-2.17) and 45 not exposed (0.38; C.I. 95% 0.18-0.57; p = 0.002). In a multivariate negative regression model, only previous exposure to natalizumab (p = 0.049) and duration of fingolimod treatment (p < 0.001) significantly correlated with the annualized relapse rate. Previous exposure to natalizumab (p = 0.028) and duration of treatment with fingolimod (p < 0.001) were confirmed by restricting the analysis to the first 12 months of treatment with fingolimod, but were no longer statistically significant by analysing only patients (n = 51) with at least 12 months of treatment with fingolimod (0.32; C.I. 95% 0.08-0.55 vs. 0.22; C.I. 95% 0.11-0.32; p = NS). No differences were observed in neuroradiological outcomes and disability progression in patients exposed to natalizumab and not exposed. The rate of discontinuation due to adverse events was 11.3%, with no differences between the two groups. Conclusions: Our study confirms efficacy and side effects of fingolimod in a second-line clinical practice cohort. Prior natalizumab exposure and duration of treatment with fingolimod are independent predictors of annualized relapse rate during the first 12 months of treatment with fingolimod, but not in the long-term, and may be influenced by the 3 months washout period between the two drugs. i 2014 S. Karger AG, Basel

Sleep disordered breathing in a cohort of patients with sporadic inclusion body myositis.

OBJECTIVE The aims of the study were: (1) to evaluate subjective sleep quality and daytime sleepiness in patients affected by sporadic inclusion-body myositis (IBM); (2) to define the sleep and sleep-related respiratory pattern in IBM patients. METHODS Thirteen consecutive adult patients affected by definite IBM were enrolled, six women and seven men, mean age 66.2 ± 11.1 years (range: 50-80). Diagnosis was based on clinical and muscle biopsy studies. All patients underwent subjective sleep evaluation (Pittsburgh Sleep Quality Index, PSQI and Epworth Sleepiness Scale, ESS), oro-pharingo-esophageal scintigraphy, pulmonary function tests, psychometric measures, anatomic evaluation of upper airways, and laboratory-based polysomnography. Findings in IBM patients were compared to those obtained from a control group of 25 healthy subjects (13 men and 12 women, mean age 61.9 ± 8.6 years). RESULTS Disease duration was >10 years in all. Mean IBM severity score was 28.8 ± 5.4 (range 18-36). Dysphagia was present in 10 patients. Nine patients had PSQI scores ≥ 5; patients had higher mean PSQI score (IBM: 7.2 ± 4.7, CONTROLS: 2.76 ± 1.45, p=0.005); one patient (and no controls) had EES>9. Polysomnography showed that IBM patients, compared to controls, had lower sleep efficiency (IBM: 78.8 ± 12.0%, CONTROLS 94.0 ± 4.5%, p<0.001), more awakenings (IBM: 11.9 ± 11.0, CONTROLS: 5.2 ± 7.5, p=0.009) and increased nocturnal time awake (IBM: 121.2 ± 82.0 min., CONTROLS 46.12 ± 28.8 min., p=0.001). Seven Patients (and no controls) had polysomnographic findings consistent with sleep disordered breathing (SDB). CONCLUSION Data suggest that sleep disruption, and in particular SDB, might be highly prevalent in IBM. SIGNIFICANCE Data indicate that IBM patients have poor sleep and high prevalence of SDB.

Intravascular large B-cell lymphoma presenting as slowly progressive paraparesis with normal MRI features

Intravascular large B-cell lymphoma (IVLBCL) is a rare, high grade extranodal B-cell lymphoma, characterized by the proliferation of tumoral cells in the lumen of small vessels of several organs without the tendency for tumor formation in other areas usually affected by lymphomas, such as lymph nodes, bone marrow, or peripheral blood. Diagnosis is generally delayed by variable presentation with non-specific constitutional and neurological symptoms, lack of reliable ancillary tests and it is often obtained only at autopsy. We report a case of IVLBCL presenting with a slowly progressing isolated paraparesis without any evidence of spinal damage at MRI though neurophysiological examinations showed signs of spinal cord injury. Laboratory findings showed markedly elevated levels of lactate dehydrogenase, low albumin values, raised ESR, mild thrombocytopenia and progressive impairment of hepatic function. Bone marrow examinations and total body CT scans were negative. Although clinical history appeared too long, we considered the hypothesis of IVLBCL on the basis of the laboratory constellation and proposed a liver biopsy, but the patient refused the procedure. The diagnosis was confirmed only at autopsy. Our case should make us aware that the disease has to be considered in the differential diagnosis of unexplained paraparesis associated with elevated level of lactate dehydrogenase and only relatively non-specific laboratory findings even without any spinal cord abnormalities at MRI.

Severe dyspnoea with alteration of the diffusion capacity of the lung associated with fingolimod treatment

In phase II clinical trial, fingolimod at a dose of 5.0mg (ten times higher than the currently approved dose) induced dyspnoea and decreased forced expiratory flow in some patients, probably trought an airways constriction S1P4-mediated. In phase III trials, respiratory adverse events associated with fingolimod treatment as dyspnoea, cough, oropharingeal pain and nasal congestion are reported with the same incidence of placebo. Here we report two cases of severe dyspnoea with alteration of the diffusion capacity of the lung associated with fingolimod treatment, which led to permanent treatment withdrawal.

Transient hair loss during treatment with dimethyl-fumarate for multiple sclerosis.

INTRODUCTION Dimethyl-fumarate is a recently approved drug for relapsing-remitting Multiple Sclerosis in Italy. CLINICAL CASE A 55-year-old woman started therapy with dimethyl-fumarate on June 2014; it was well-tolerated aside from moderate flushing. Starting September 2014 she noticed a progressive hair loss, that neither the dermatological examination nor clinical and medical history nor blood investigations could explain. The hair loss slowed down after two months and was followed by a hair growth back. DISCUSSION Transient hair loss is not a reported side effect of dimethyl-fumarate therapy but by excluding any known cause we attributed it to the beginning of the new therapy.

Idiopathic inflammatory myopathies evaluated by near‐infrared spectroscopy

In this study we evaluated whether near‐infrared spectroscopy (NIRS) can determine the metabolic patterns of dermatomyositis (DM), polymyositis (PM), and inclusion‐body myositis (IBM).

Liver injury after pulsed methylprednisolone therapy in multiple sclerosis patients

High‐dose pulsed methylprednisolone‐related liver injury cases have been reported in the literature, but a prospective study in patients with multiple sclerosis (MS) has never been performed. The aim of this study was to evaluate the prevalence and severity of liver injury in patients with MS after pulsed methylprednisolone therapy.

An atypical case of acute disseminated encephalomyelitis associated with cytomegalovirus infection.

We present the case of a young man admitted to our hospital for persistent headache associated with fever, retrorbitary pain and vomiting, who rapidly developed encephalopathy with drowsiness, paraplegia, hypoesthesia with a D6 sensory level and urinary retention. Brain and spinal cord MRI revealed findings compatible with acute disseminated encephalomyelitis (ADEM) and microbiological tests documented a cytomegalovirus (CMV) infection. CMV infection is extraordinarily associated with ADEM, but must be included in microbiological tests, because early diagnosis and treatment ameliorate the neurological outcome.