Thigh magnetic resonance imaging for the evaluation of disease activity in patients with idiopathic inflammatory myopathies followed in a single center.

INTRODUCTION: In patients with idiopathic inflammatory myopathies (IIM), magnetic resonance imaging (MRI) has been proposed as a useful tool for diagnosis and follow-up. It may identify muscle inflammation (edema) and fatty infiltration for evaluation of disease activity and damage. Little information is available on the role of MRI in assessment of large cohorts of adult patients with IIM. METHODS: Fifty-one patients underwent MRI of the thigh muscles, laboratory tests, and clinical evaluation, including Physician Global Assessment (PGA) of myositis activity and the Manual Muscle Test 8 (MMT8). RESULTS: Muscle edema correlated significantly with creatine kinase values (P = 0.017) and PGA (P < 0.001). A significant correlation between edema and MMT8 values (P = 0.025) was observed when patients with muscle fatty infiltration were excluded. With respect to clinical diagnosis, the sensitivity of MRI was 92.3%, and specificity was 83.3%. CONCLUSIONS: MRI appears to provide additional information that complements clinical and biochemical examinations. Muscle Nerve 54: 666-672, 2016.

Cancer-associated myositis: a 35-year retrospective study of a monocentric cohort.

This study is aimed at retrospectively studying cancer-associated inflammatory myopathies (CAM) in a cohort of patients with inflammatory myopathies. CAM were diagnosed if the tumor was diagnosed 2 years before or after disease onset. One hundred and sixty-two patients were included, 27 (17 %) had CAM. A significant association was observed between CAM and dermatomyositis (DM), older age and dysphagia at disease onset. CAM have lower creatine kinase (CK) levels at onset and a low prevalence of autoantibodies. In conclusion, the association of male sex, older age, DM, dysphagia at onset, lower CK, and autoantibodies negativity carries a high suspicion of CAM.

Overlap of ACA-positive systemic sclerosis and Sjögren's syndrome: a distinct clinical entity with mild organ involvement but at high risk of lymphoma.

OBJECTIVES: We aimed to assess the prevalence of patients with either primary Sjögren's syndrome (pSS) and positive anticentromere antibodies (ACA) and secondary Sjögren's syndrome (sSS) and limited cutaneous ACA positive-systemic sclerosis (SSc) in two large cohorts of patients with pSS and SSc¸ and also to compare the clinical features of these two subsets with those of patients affected by 'ACA-positive SSc without sicca symptoms' and 'pSS'. METHODS: In this retrospective monocentric study, the case records of 'overlap' patients fulfilling both the classification criteria for SS and the LeRoy criteria for early SSc were identified from two datasets of patients with limited cutaneous ACA positive SSc (209 subjects) and with pSS (402 subjects) who attended our Rheumatology Unit in the years between 1989 and 2011. Control groups were represented by SSc subjects without sicca symptoms ('SSc group') and ACA negative Pss patients ('pSS group'). SSc patients with sicca symptoms ('Sicca-SSc group') who did not complete the diagnostic algorithm for SS were excluded from the analysis. Demographic, clinical and immunological data of the patients enrolled were collected cumulatively over the entire follow up period. Statistical analysis was performed using SPSS 13 (SPSS Inc., Chicago IL, USA). RESULTS: Out of the two datasets 41 'overlap' patients were selected. The control groups were represented by 102/209 SSc subjects without sicca symptoms ('SSc group') and 387/402 pSS patients ('pSS group'). Eighty-one 'sicca-SSc' with an incomplete work-up for SS were excluded from the analysis. The prevalence of ACA positive pSS patients among pSS was 3.7% (15/402), while the frequency of patients with definite sSS in the SSc cohort was 20% (26/128). No differences were detected between 'overlap' patients and control groups, relatively to demographic characteristics. 'Overlap patients' were characterised by a milder SSc disease (i.e. lower frequency of sclerodactily, negative evolution of the capillaroscopy pattern or absence of severe systemic involvement) whereas, as far as the SS-related manifestations were concerned, although often lacking in specific autoantibodies (i.e. rheumatoid factor, anti-Ro/SSA, anti-La/SSB), the 'overlap patients' displayed a full blown SS phenotype with recurrent salivary gland enlargement, purpura, fatigue, arthralgias, and leukocytopenia. It is noteworthy that the prevalence of non-Hodgkin's lymphoma in the 'overlap patients' was higher than in pSS. CONCLUSIONS: Taken together, the results of our work emphasise the existence of a novel distinct clinical entity which might tentatively be called 'ACA-positive limited scleroderma/SS overlap syndrome' characterised by a benign SSc clinical course but at a high risk of non-Hodgkin's lymphoma.

Long-term efficacy and improvement of health-related quality of life in patients with Takayasu's arteritis treated with infliximab.

OBJECTIVES: To explore the efficacy in the long-term and the impact on Health Related Quality of Life (HRQOL) of infliximab in patients suffering from Takayasu's arteritis (TA). METHODS: Clinical data were retrospectively collected in 15 patients with TA. Evaluation of Medical Outcomes Study Short Form 36 (SF-36) questionnaires was made at baseline and at the last follow-up in 10 patients continuing infliximab at the last follow-up. RESULTS: Follow-up after initiation of infliximab was 71±44 months (range 10-162). Remission at the last follow-up was noted in 11/15 (73.3%). Significant reduction in BVAS score was noted at the last follow-up [from 4.0 (1-16) to 3.0 (0-9), p=0.003]. Significant steroid dose reduction was recorded [from 10 mg/day (0-50) to 2.5 mg/day (0-15), p=0.005)]. Steroid suspension occurred in 5/11 responder patients. Inflammatory markers were normalised in about two thirds of the patients. Radiological disease activity was assessed in 13/15 during infliximab therapy, with evidence of improvement in 2/13, stable disease activity in 9/13, and worsening in 2/13. No relevant side effects or severe infections were recorded during the whole follow-up under infliximab. One patient stopped infliximab at the third infusion for acute reaction. HRQOL in patients with TA was impaired, with major involvement of physical domains [(body pain (BP) and global health (GH)]. Infliximab significantly improved HRQOL, in particular BP (40.0±32.3 vs. 67.2±27.6, p=0.035), GH (31.2±21.5 vs. 54.9±21.1, p=0.007) and Vitality (VT) (47.0±28.7 vs. 67.0±20.3, p=0.01) domains. CONCLUSIONS: Infliximab determined a sustained clinical improvement in the long-term in TA, with significant benefits on HRQOL.

Minor salivary gland biopsy and Sjögren's syndrome: comparative analysis of biopsies among different Italian rheumatologic centers.

OBJECTIVES: The minor salivary gland biopsy (MSGB) is widely considered an important component of the diagnostic algorithm of primary Sjögren's syndrome (pSS) and is mentioned in all the classification criteria sets for the disease. The aim of this study, coordinated by the Italian Society of Rheumatology, was to verify the inter-observer agreement on the evaluation of MSGB among different experienced Italian rheumatologic centres, in order to better standardise the diagnostic methodology. METHODS: Seven centres participated in the study, providing a total of 50 MSGB samples. Each center blindly classified all the samples according to the Chisholm and Mason (CM) grading. The results were collected and analysed. RESULTS: The inter-observer agreement was satisfactory when the samples were stratified as consistent and non-consistent with the final diagnosis of pSS (median κ =0.75; mean κ =0.70). Nonetheless, significant discrepancies in the histopathologic evaluation of MSGB emerged when the agreement was assessed on the single scores. Considering the modal CM grading for each sample as the correct grading, upon re-examination, a potential bias in the final clinical diagnosis was detected in 7 out of 50 samples. CONCLUSIONS: This study has shown significant discrepancies in the evaluation of MSGB among different rheumatologic centres in the same country. Greater standardisation of the procedure is clearly necessary, both to improve the diagnostic performance and scientific communication.

Epidemiology of systemic sclerosis: a multi-database population-based study in Tuscany (Italy).

BACKGROUND: Systemic Sclerosis (SSc) is a chronic autoimmune disease with a complex pathogenesis that includes vascular injury, abnormal immune activation, and tissue fibrosis. We provided a complete epidemiological characterization of SSc in the Tuscany region (Italy), considering prevalence and incidence, survival, comorbidities and drug prescriptions, by using a multi-database population-based approach. Cases of SSc diagnosed between 1st January 2003 and 31st December 2017 among residents in Tuscany were collected from the population-based Rare Diseases Registry of Tuscany. All cases were linked to regional health and demographic databases to obtain information about vital statistics, principal causes of hospitalization, complications and comorbidities, and drug prescriptions. RESULTS: The prevalence of SSc in Tuscany population resulted to be 22.2 per 100,000, with the highest prevalence observed for the cases aged ≥ 65 years (33.2 per 100,000, CI 95% 29.6-37.3). In females, SSc was predominant (86.7% on the total) with an overall sex ratio F/M of 6.5. Nevertheless, males presented a more severe disease, with a lower survival and significant differences in respiratory complications and metabolic comorbidities. Complications and comorbidities such as pulmonary involvement (HR = 1.66, CI 95% 1.17-2.35), congestive heart failure (HR = 2.76, CI 95% 1.80-4.25), subarachnoid and intracerebral haemorrhage (HR = 2.33, CI 95% 1.21-4.48) and malignant neoplasms (HR = 1.63, CI 95% 1.06-2.52), were significantly associated to a lower survival, also after adjustment for age, sex and other SSc-related complications. Disease-modifying antirheumatic drugs, endothelin receptor antagonists, and phosphodiesterase-5 inhibitors were the drugs with the more increasing prevalence of use in the 2008-2017 period. CONCLUSIONS: The multi-database approach is important in the investigation of rare diseases where it is often difficult to provide accurate epidemiological indicators. A population-based registry can be exploited in synergy with health databases, to provide evidence related to disease outcomes and therapies and to assess the burden of disease, relying on a large cohort of cases. Building an integrated archive of data from multiple databases linking a cohort of patients to their comorbidities, clinical outcomes and survival, is important both in terms of treatment and prevention.

Skull-Base Inflammatory Pseudotumor Involving the Trigeminal and Facial Nerves: A Singular Presentation of a Rare Disease.

Inflammatory pseudotumor (IPT) is a rare disease that is often misinterpreted as a lymphoma or carcinoma. It may involve different body regions but most commonly the lungs and the orbital cavity. We report the case of a patient affected by an IPT of the trigeminal and facial nerves. A 69-year-old male presented to our hospital with a right facial palsy arisen suddenly 2 days before. A magnetic resonance imaging (MRI) of the head showed an abnormal mass with homogeneous enhancement involving the deep lobe of the parotid gland, the parapharyngeal space, and the infratemporal fossa, extending along the trigeminal nerve and the facial nerve. The patient was planned for multiple transnasal biopsies in the nasopharynx, the region of the foramen ovale, and the deep lobe of the parotid gland, but the results were inconclusive, with no evidence of a malignant process. We considered the possibility that the lesion could be an IPT, and the patient was treated with prednisone and cyclophosphamide. Three months after the conclusion of the treatment, an MRI showed a complete radiological response.

[Cardiomyopathy and hypereosinophilia: a post-partum case]. / Cardiomiopatia e ipereosinofilia: un caso post-partum.

Cardiomiopathy and hypereosinophilia: a post-partum case. A case of cardiomyopathy and hyperoesinophilia observed soon after delivery is reported. A wide spectrum of different clinical entities characterized by peripheral hyperoesinophilia, tissue infiltration and eosinophil-mediated organ damage is referred to as hypereosinophilic syndrome and their distinction is often challenging. Cardiac involvement is frequent in such these syndromes and worsens prognosis. A prompt recognition and therapy of the underlying disease and of its peripheral expression, as in the following case, may improve patients' outcome.

Salivary Gland Pathology in IgG4-Related Disease: A Comprehensive Review.

IgG4-related disease (IgG4-RD) is a rare fibroinflammatory condition that can affect almost any organ, characterized by swollen lesions and often by eosinophilia and elevated serum IgG4 concentrations. The diagnosis of IgG4-RD is a challenging task: in fact, single or multiple organs can be affected and clinical, serological, and histological findings can be heterogeneous. In IgG4-RD, the involvement of salivary glands is observed in 27% to 53% of patients. Several organ-specific conditions, now recognized as different manifestations of IgG4-related sialadenitis (IgG4-RS), were viewed in the past as individual disease entities. The study of salivary glands may sometimes be complex, because of the number of pathological conditions that may affect them, often with overlapping clinical pictures. Integration of different imaging techniques is often required in the case of swelling of salivary glands, even though biopsy remains the gold standard for a definite diagnosis of IgG4-RS. Thus, in this review, we discuss new insights in the pathogenesis of IgG4-RD, focusing on its clinical aspects and the tools that are currently available for a correct differential diagnosis when the salivary glands are involved.

Clinically amyopathic dermatomyositis: analysis of a monocentric cohort.

OBJECTIVE: Clinically amyopathic dermatomyositis (CADM) is characterized by the presence of specific cutaneous manifestations of dermatomyositis (DM) without clinical signs of muscular involvement. The aim of this study was to examine the prevalence, clinical characteristics, and outcome of patients with CADM followed at our Rheumatology Unit. METHODS: Clinical charts of patients diagnosed as DM were retrospectively examined. Epidemiological, clinical, laboratory, instrumental, and histological features of the patients at the time of diagnosis were collected. CADM was diagnosed in the presence of DM-like rash without muscular involvement. RESULTS: A total of 103 DM patients were identified, of these, 8 were diagnosed with CADM. Six of patients with CADM had subclinical muscle involvement, and were therefore classifiable as hypomyopathic DM. CONCLUSIONS: In our case series, CADM represents 7.7% of the total DM. However, if investigated with instrumental methods, most patients with CADM result to have subclinical muscular involvement.