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Purpose of review Necrotizing myopathy is a broad term. It includes patients with the recently described immune-mediated necrotizing myopathies (IMNM) who have specific antibodies, such as anti-hydroxy-3-methylglutaryl-CoA reductase or anti-signal recognition particle, seronegative phenotypes that can be associated with cancer, and other types of myositis and connective tissue diseases involving necrotic muscle fibers as a characteristic pathologic feature. Necrotizing myopathies that are not immune-mediated, such as those caused by drugs, dystrophies, infections, or even hypothyroidism are also included. The purpose of this review is to address the differential diagnosis of these disorders. Recent findings New IMNM have been described over the last few years, some of them related with checkpoint inhibitors, drugs that are being increasingly used in cancer treatment. Necrotizing myopathy has also been reported in association with specific phenotypes and autoantibodies (e.g. anti-Mi2 dermatomyositis, antisynthetase syndrome, and myositis associated with antimitochondrial antibodies). Rarer cases associated with graft-versus-host disease and severe acute respiratory syndrome coronavirus 2 infection are also emerging. Summary Differentiation between patients with IMNM and those without the superimposed autoimmune phenomena helps clinicians determine the best individualized approach to use and the appropriate immunosuppressive therapy, whenever needed.

McLeod syndrome (MLS) is a very rare genetic X-linked condition due to XK gene mutations and characterized by the development of chorea, psychiatric and cognitive impairment, seizures, cardiomyopathy, muscular involvement and the presence of acanthocytes. We present the case of a patient with very long lasting mild myalgia and elevated creatine kinase (CK) who developed lateonset chorea and was finally diagnosed with MLS.

ObjectivesIn dermatomyositis (DM), different autoantibodies are associated with unique clinical phenotypes. For example, anti-TIF1γ autoantibodies are associated with a substantially increased risk of cancer. The purpose of this study was to discover novel DM autoantibodies.MethodsPhage ImmunoPrecipitation Sequencing using sera from 67 DM patients suggested that transcription factor Sp4 is a novel autoantigen; this was confirmed by showing that patient sera immunoprecipitated full-length Sp4 protein. Sera from 371 Johns Hopkins myositis patients (255 with DM, 28 with antisynthetase syndrome [ASyS], 40 with immune-mediated necrotizing myopathy [IMNM], 29 with inclusion body myositis [IBM], and 19 with polymyositis [PM]), 75 rheumatologic disease controls (25 with Sjogren’s syndrome, 25 with systemic lupus erythematosus, and 25 with rheumatoid arthritis), and 200 healthy comparators were screened for anti-SP4 autoantibodies by an enzyme-linked immune absorption assay. Serum from 23 Spanish TIF1γ-positive DM patients was also screened for anti-Sp4 autoantibodiesResultsAnti-Sp4 autoantibodies were present in 11.4% of DM and 8% of rheumatoid arthritis patients but not in any other clinical group. Among DM patients, 90% of anti-Sp4 autoantibodies were detected in patients with anti-TIF1γ autoantibodies. Among anti-TIF1γ-positive DM patients from Johns Hopkins and Spain, those with coexisting anti-Sp4 autoantibodies had a decreased risk of cancer (0% vs. 31%; p=0.001, Chi-squared test).ConclusionsAnti-Sp4 autoantibodies are enriched in anti-TIF1γ-positive DM patients without cancer, suggesting that the development of an anti-Sp4 immune response may correlate with a relatively low risk of cancer in these patients.KEY MESSAGESWhat is already known about this subject?Dermatomyositis patients with anti-TIF1γ autoantibodies have an increased risk of cancer.What does this study add?Anti-Sp4 autoantibodies are enriched in dermatomyositis patients with anti-TIF1γ autoantibodies.Anti-Sp4 autoantibodies are only found in dermatomyositis patients without cancer.Muscle strength is greater in dermatomyositis patients with anti-Sp4 autoantibodies.Anti-Sp4 autoantibodies are not present in patients with antisynthetase syndrome, immune-mediated necrotizing myopathy, or inclusion body myositis.Autoantibodies against Sp4 are absent in those with systemic lupus erythematosus or Sjogren’s syndrome and present in 8% of those with rheumatoid arthritis.How might this impact on clinical practice?Testing for anti-Sp4 autoantibodies may define a population of anti-TIF1γ-positive dermatomyositis patients without a substantially increased risk of cancer.

Necrotizing myopathy is a broad term. It includes patients with the recently described immune-mediated necrotizing myopathies (IMNM) who have specific antibodies, such as anti-hydroxy-3-methylglutaryl-CoA reductase or anti-signal recognition particle, seronegative phenotypes that can be associated with cancer, and other types of myositis and connective tissue diseases involving necrotic muscle fibers as a characteristic pathologic feature. Necrotizing myopathies that are not immune-mediated, such as those caused by drugs, dystrophies, infections, or even hypothyroidism are also included. The purpose of this review is to address the differential diagnosis of these disorders.New IMNM have been described over the last few years, some of them related with checkpoint inhibitors, drugs that are being increasingly used in cancer treatment. Necrotizing myopathy has also been reported in association with specific phenotypes and autoantibodies (e.g. anti-Mi2 dermatomyositis, antisynthetase syndrome, and myositis associated with antimitochondrial antibodies). Rarer cases associated with graft-versus-host disease and severe acute respiratory syndrome coronavirus 2 infection are also emerging.Differentiation between patients with IMNM and those without the superimposed autoimmune phenomena helps clinicians determine the best individualized approach to use and the appropriate immunosuppressive therapy, whenever needed.

Objective Although more than a dozen myositis-specific autoantibodies (MSAs) have been identified, most patients with myositis are positive for a single MSA. The specific overexpression of a given myositis autoantigen in myositis muscle has been proposed as initiating and/or propagating autoimmunity against that particular autoantigen. The present study was undertaken to test this hypothesis. Methods In order to quantify autoantigen RNA expression, RNA sequencing was performed on muscle biopsy samples from control subjects, MSA-positive patients with myositis, regenerating mouse muscles, and cultured human muscle cells. Results Muscle biopsy samples were available from 20 control subjects and 106 patients with autoantibodies recognizing hydroxymethylglutaryl-coenzyme A reductase (n = 40), signal recognition particles (n = 9), Jo-1 (n = 18), nuclear matrix protein 2 (n = 12), Mi-2 (n = 11), transcription intermediary factor 1γ (n = 11), or melanoma differentiation-associated protein 5 (n = 5). The increased expression of a given autoantigen in myositis muscle was not associated with autoantibodies recognizing that autoantigen (all q > 0.05). In biopsy specimens from both myositis muscle and regenerating mouse muscles, autoantigen expression correlated directly with the expression of muscle regeneration markers and correlated inversely with the expression of genes encoding mature muscle proteins. Myositis autoantigens were also expressed at high levels in cultured human muscle cells. Conclusion Most myositis autoantigens are highly expressed during muscle regeneration, which may relate to the propagation of autoimmunity. However, factors other than overexpression of specific autoantigens are likely to govern the development of unique autoantibodies in individual patients with myositis.

Sporadic inclusion body myositis (sIBM) is an inflammatory myopathy associated, among others, with mitochondrial dysfunction. Similar molecular features are found in Alzheimer’s disease (AD) and Type 2 Diabetes Mellitus (T2DM), underlying potential comorbidity. This study aims to evaluate common clinical and molecular hallmarks among sIBM, AD, and T2DM. Comorbidity with AD was assessed in n = 14 sIBM patients by performing neuropsychological and cognitive tests, cranial magnetic resonance imaging, AD cerebrospinal fluid biomarkers (levels of amyloid beta, total tau, and phosphorylated tau at threonine-181), and genetic apolipoprotein E genotyping. In the same sIBM cohort, comorbidity with T2DM was assessed by collecting anthropometric measures and performing an oral glucose tolerance test and insulin determinations. Results were compared to the standard population and other myositis (n = 7 dermatomyositis and n = 7 polymyositis). Mitochondrial contribution into disease was tested by measurement of oxidative/anaerobic and oxidant/antioxidant balances, respiration fluxes, and enzymatic activities in sIBM fibroblasts subjected to different glucose levels. Comorbidity of sIBM with AD was not detected. Clinically, sIBM patients showed signs of misbalanced glucose homeostasis, similar to other myositis. Such misbalance was further confirmed at the molecular level by the metabolic inability of sIBM fibroblasts to adapt to different glucose conditions. Under the standard condition, sIBM fibroblasts showed decreased respiration (0.71 ± 0.08 vs. 1.06 ± 0.04 nmols O2/min; p = 0.024) and increased anaerobic metabolism (5.76 ± 0.52 vs. 3.79 ± 0.35 mM lactate; p = 0.052). Moreover, when glucose conditions were changed, sIBM fibroblasts presented decreased fold change in mitochondrial enzymatic activities (−12.13 ± 21.86 vs. 199.22 ± 62.52 cytochrome c oxidase/citrate synthase ratio; p = 0.017) and increased oxidative stress per mitochondrial activity (203.76 ± 82.77 vs. −69.55 ± 21.00; p = 0.047), underlying scarce metabolic plasticity. These findings do not demonstrate higher prevalence of AD in sIBM patients, but evidences of prediabetogenic conditions were found. Glucose deregulation in myositis suggests the contribution of lifestyle conditions, such as restricted mobility. Additionally, molecular evidences from sIBM fibroblasts confirm that mitochondrial dysfunction may play a role. Monitoring T2DM development and mitochondrial contribution to disease in myositis patients could set a path for novel therapeutic options.

Objectives. To analyse the influence of genetic alterations and differential expression of transcription intermediary factor 1 (TIF1) genes in the pathophysiology of cancer-associated myositis (CAM). Methods. Paired blood and tumour DNA samples from patients with anti-TIF1 gamma-positive CAM and from controls were analysed by whole-exome sequencing for the presence of somatic mutations and loss of heterozygosity (LOH) in their TIF1 genes. The genesis and maintenance of the autoimmune process were investigated immunohistochemically by studying TIF1 gamma expression in the different tissues involved in CAM (skin, muscle and tumour) based on the immunohistochemical H-score. Results. From seven patients with anti-TIF1 gamma-positive CAM, we detected one somatic mutation and five cases of LOH in one or more of the four TIF1 genes compared with just one case of LOH in tumours from TIF1 gamma-negative myositis patients (86% vs 17%; P = 0.03). Compared with type-matched control tumours from non-myositis patients, TIF1 gamma staining was more intense in tumours from anti-TIF1 gamma-positive patients (H-score 255 vs 196;P = 0.01). Also, TIF1 gamma staining in muscle was slightly more intense in anti-TIF1 gamma-positive than in anti-TIF1 gamma-negative myositis (H-score 22 vs 5; P = 0.03). In contrast, intense TIF1 gamma staining was detected in the skin of both myositis and control patients. Conclusion. Tumours from paraneoplastic anti-TIF1 gamma-positive patients showed an increased number of genetic alterations, such as mutations and LOH, in TIF1 genes. These genetic alterations, in the context of a high expression of TIF1 gamma in the tumour, muscle and skin of these patients may be key to understanding the genesis of paraneoplastic myositis.

Idiopathic inflammatory myopathies (IIM) are characterized by muscle inflammation and weakness, myositis-specific autoantibodies (MSAs), and extramuscular organ damage. The role of neutrophil dysregulation and neutrophil extracellular traps (NETs) in IIM is unclear. We assessed whether pathogenic neutrophil subsets (low-density granulocytes [LDGs]) and NETs were elevated in IIM, associated with clinical presentation and MSAs, and their effect on skeletal myoblasts and myotubes. Circulating NETs and LDGs were quantified and correlated with clinical measures. Specific MSAs were tested for their ability to induce NETs. NETs and neutrophil gene expression were measured in IIM biopsies. Whether NETs damage skeletal myoblasts and myotubes was tested. Circulating LDGs and NETs were increased in IIM. IIM LDGs had an enhanced ability to form NETs. LDGs and NETs correlated with IIM disease activity and muscle damage. The serum MSA anti-MDA5 correlated with circulating and tissue NETs and directly enhanced NET formation. An enhanced neutrophil gene signature was present in IIM muscle and associated with muscle injury and tissue IFN gene signatures. IIM NETs decreased the viability of myotubes in a citrullinated histone-dependent manner. Dysregulated neutrophil pathways may play pathogenic roles in IIM through their ability to directly injure muscle cells and other affected tissues.

ObjectiveActivation of the type 1 interferon (IFN1) pathway is a prominent feature of dermatomyositis (DM) muscle and may play a role in the pathogenesis of this disease. However, the relevance of the IFN1 pathway in patients with other types of myositis such as the antisynthetase syndrome (AS), immune-mediated necrotizing myopathy (IMNM), and inclusion body myositis (IBM) is largely unknown. Moreover, the activation of the type 2 interferon (IFN2) pathway has not been comprehensively explored in myositis. In this cross-sectional study, our objective was to determine whether IFN1 and IFN2 pathways are differentially activated in different types of myositis by performing RNA sequencing on muscle biopsy samples from 119 patients with DM, IMNM, AS, or IBM and on 20 normal muscle biopsies.MethodsThe expression of IFN1- and IFN2-inducible genes was compared between the different groups.ResultsThe expression of IFN1-inducible genes was high in DM, moderate in AS, and low in IMNM and IBM. In contrast, the expression of IFN2-inducible genes was high in DM, IBM, and AS but low in IMNM. The expression of IFN-inducible genes correlated with the expression of genes associated with inflammation and muscle regeneration. Of note, ISG15 expression levels alone performed as well as composite scores relying on multiple genes to monitor activation of the IFN1 pathway in myositis muscle biopsies.ConclusionsIFN1 and IFN2 pathways are differentially activated in different forms of myositis. This observation may have therapeutic implications because immunosuppressive medications may preferentially target each of these pathways.

espanolIntroduccion. No hay muchos estudios que valoren la docencia clinica de una asignatura determinada. Este estudio pre-tende ser la continuidad de uno que se publico en esta misma revista en 2015. Sujetos y metodos. Se han analizado las encuestas a alumnos de los cursos desde 2011-2012 hasta diciembre de 2018, lo que representa 7,5 cursos. Los objetivos de la estancia clinica no cambiaron a lo largo del periodo analizado, ni tampoco vario el numero de alumnos por unidad ni las siete unidades/centros docentes. Resultados. Se han recogido 1.180 encuestas (92% del total). Se constato una muy buena valoracion global del periodo de docencia clinica (mediana: 5; primer cuartil: 4, en escala de 1 a 5), sin variaciones significativas en los cursos analiza-dos. Tampoco hubo variaciones significativas en ninguna de las siete unidades docentes. Conclusion. La docencia clinica esta muy bien valorada de forma global en esta asignatura en las distintas unidades do-centes, sin variaciones a lo largo del tiempo. EnglishIntroduction. There are few studies regarding the clinical skills training of a particular matter. The present study reflect the continuation of a previous work published in 2015 in the same journal. Subjects and methods. The period of study represents 7,5 cycles (2011-2018). The main objectives of the clinical practice as well as the number of students and the number of facilities did not change over time. Results. A total number of 1,180 (92%) of the requested surveys were collected. A very good global qualification was assessed (median: 5; first quartile: 4, in 1-5 scale) without significant differences either through the time or among the different seven units. Conclusions. Clinical skills training in this matter is considered near excellent without significant variations through the time.

Neuromuscular diseases (NMDs) are a heterogeneous group of acquired or inherited rare disorders caused by injury or dysfunction of the anterior horn cells of the spinal cord (lower motor neurons), peripheral nerves, neuromuscular junctions, or skeletal muscles leading to muscle weakness and waste. Unfortunately, most of them entail serious or even fatal consequences. The prevalence rates among NMDs range between 1 and 10 per 100,000 population, but their rarity and diversity pose difficulties for healthcare and research. Some molecular hallmarks are being explored to elucidate the mechanisms triggering disease, to set the path for further advances. In fact, in the present review we outline the metabolic alterations of NMDs, mainly focusing on the role of mitochondria. The aim of the review is to discuss the mechanisms underlying energy production, oxidative stress generation, cell signaling, autophagy, and inflammation triggered or conditioned by the mitochondria. Briefly, increased levels of inflammation have been linked to reactive oxygen species (ROS) accumulation, which is key in mitochondrial genomic instability and mitochondrial respiratory chain (MRC) dysfunction. ROS burst, impaired autophagy, and increased inflammation are observed in many NMDs. Increasing knowledge of the etiology of NMDs will help to develop better diagnosis and treatments, eventually reducing the health and economic burden of NMDs for patients and healthcare systems.

The aim of this article is to study the evidence-based knowledge related to the use of biological therapies in patients diagnosed with idiopathic inflammatory myopathy (dermatomyositis, polymyositis and inclusion body myositis). In this review the leading published studies related to the use of biological therapy in patients with myositis are analysed; mainly those with high methodological standards, that means randomized and controlled studies. Methodological drawbacks due to the rarity and heterogeneity of these complex diseases are also addressed. Up to now is not possible to ascertain the biologics as a recommended therapy in patients with myositis, at least based in the current evidence-based knowledge, although it can not be neglected as a therapeutic option in some clinical situations, taking into account the scarce of effective treatments in those patients, especially in refractory myositis. Future studies probably will help to better define the role of biological therapies in patients with idiopathic inflammatory myopathy.

The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients' healthcare.After carrying out a bibliographic review of the subject, the authors, beginning with their own experience, produced an initial document which was subjected to successive debates until the final document was obtained. The consensus recommendation was decided by the majority in case of criterion discrepancy.A series of recommendations are presented for the best clinical management of the transitions of care of patients with IEM from the paediatric to adult care setting in order to achieve the best results in this process given the special characteristics of this patient subgroup and the main difficulties entailed in the transition process.The role of the internal medicine doctor in this transition process and correct interrelation with the paediatric and social setting is stressed. Furthermore, actions and attitudes are suggested to improve the quality of said transition.

Purpose of review Currently available data support the idea that inflammatory myopathies, particularly dermatomyositis, are paraneoplastic diseases. Cancer screening is usually recommended in patients with these conditions, but there is no consensus regarding how and how often screening should be performed. This review will address recent advances in our understanding of the relationship between cancer and myositis and describe new data regarding the best approach for cancer screening in myositis patients. Recent findings A newly described autoantibody to a 155-kDa nuclear protein, identified as transcription intermediary factor 1-gamma (TIF1-γ), has proven useful for cancer screening in patients with dermatomyositis. Occult tumor detection by PET/computed tomography (PET/CT) seems to be a good alternative to broad conventional screening. A combination of both methods, detection of autoantibodies against p155 and PET/CT study, may be the best approach to ascertain the presence of occult malignancy in patients with dermatomyositis. Summary Advances in immunology and imaging techniques are increasing the accuracy of occult malignant cancer detection in dermatomyositis patients. Nevertheless, the diagnosis of cancer in this population remains elusive in some cases. Further investigation is needed to improve our knowledge of the link between myositis and cancer.

Fundamento y objetivo No existen estudios epidemiologicos sobre la incidencia de miopatia inflamatoria en Espana. El objetivo de este estudio fue determinar las tasas de incidencia de dermatomiositis y polimiositis y su distribucion en el territorio espanol. Material y metodo Estudio descriptivo observacional a partir de los datos del Conjunto Minimo Basico de Datos de Altas Hospitalarias en el periodo 1997-2004. Se analizaron las variables sexo, comunidad autonoma y edad. Se calcularon las tasas de incidencia de hospitalizacion en casos por millon de habitantes y ano brutas y estandarizadas y su intervalo de confianza (IC) del 95%, en total y por comunidad autonoma. Para el analisis de tendencia del periodo estudiado, se calculo la odds ratio (OR) de tendencia mediante regresion logistica. Resultados La tasa de incidencia total del conjunto de dermatomiositis y polimiositis fue de 8,9 (IC del 95%, 8,6-9,2) nuevos casos por millon de habitantes y ano; la de polimiositis, 3,9 (IC del 95%, 3,7-4,1), y la dermatomiositis, 4,9 (IC del 95%, 4,7-5,2). La diferencia entre las tasas de ambas enfermedades fue estadisticamente significativa (p 0,001; polimiositis, OR = 0,96; IC del 95%, 0,93-0,97; p Conclusiones La incidencia de dermatomiositis y polimiositis en Espana es similar a la observada en otras zonas del mundo. La disminucion de la incidencia mantenida a lo largo del periodo y la incidencia mas alta de dermatomiositis podrian explicarse por una mejor categorizacion de estas enfermedades.

Celiac disease is usually associated with autoimmune disorders and has occasionally been reported in patients with inflammatory myopathies. Our aim was to determine the presence of celiac disease and antibodies associated with celiac disease in patients with inflammatory myopathies and to investigate their relationship. Serum antigliadin, anti-tissue transglutaminase, and antiendomysial antibodies were determined in 51 patients with inflammatory myopathies. HLA-DQ2 and -DQ8 alleles were studied to assess their complementary diagnostic value. Jejunal biopsy was performed in patients with moderate to high levels of antigliadin antibodies. Patients with jejunal histology consistent with celiac disease initiated a gluten-free diet. Seventeen patients (31%) were positive for antigliadin antibodies, which were significantly more frequent in patients with inclusion-body myositis than dermatomyositis (P < 0.001). Positive status to HLA-DQ2 and/or -DQ8 did not differ between antigliadin-positive (75% and 12.5%) or -negative (60% and 15%) patients. Three of five jejunal biopsies were diagnostic for celiac disease with histological normalization after a gluten-free diet. Thus, celiac disease is more prevalent in patients with inflammatory myopathies than in the general population. Positive status to HLA-DQ2 allele, which is known to be more frequent in patients with inflammatory myopathies, could explain the high prevalence of antigliadin antibodies in this population. The diagnostic value of HLA-DQ2 or -DQ8 haplotypes to detect celiac disease in patients with inflammatory myopathy is limited.

Objective The aim of this study is to describe a novel myositis-associated autoantibody (anti-cortactin antibody) and assess related clinical and immunological manifestations and its clinical significance. Methods Adult patients with myositis (dermatomyositis, polymyositis, immune-mediated necrotizing myopathy, and inclusion body myositis), as well as patients with other autoimmune diseases and non-inflammatory myopathies were analyzed for the presence of anti-cortactin antibody using in-house developed ELISA and immunoblotting techniques with a commercial source of purified cortactin. The cut-off for positive status was determined in a group of healthy volunteers. Results Antibody against cortactin was positive in 7/34 (20%) polymyositis patients, 9/117 (7.6%) dermatomyositis, 2/7 (26%) immune-mediated necrotizing myopathy, and none of the 4 patients with inclusion body myositis. The antibody also tested positive in 3/101 patients with other autoimmune diseases (2 systemic sclerosis and 1 systemic lupus erythematosus), and in 1/29 patients with non-inflammatory myopathy. No relevant association with specific clinical features was found in patients with these antibodies. Anti-cortactin antibody was more frequently positive in patients with polymyositis and immune-mediated necrotizing myopathy than in the remaining myositis patients, and was the only myositis autoantibody found in sera of 3 patients from these groups. Conclusions Our data indicate that cortactin is a novel target antigen in patients with autoimmune diseases, especially patients with polymyositis or immune-mediated necrotizing myopathy. Anti-cortactin can be considered a new myositis-associated antibody.

Background and objective The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals. The objective of this work is to establish action guidelines so that the specialists involved can guarantee a successful transition of these patients’ healthcare. Methodology After carrying out a bibliographic review of the subject, the authors, beginning with their own experience, produced an initial document which was subjected to successive debates until the final document was obtained. The consensus recommendation was decided by the majority in case of criterion discrepancy. Results A series of recommendations are presented for the best clinical management of the transitions of care of patients with IEM from the paediatric to adult care setting in order to achieve the best results in this process given the special characteristics of this patient subgroup and the main difficulties entailed in the transition process. Conclusions The role of the internal medicine doctor in this transition process and correct interrelation with the paediatric and social setting is stressed. Furthermore, actions and attitudes are suggested to improve the quality of said transition.

Resumen Antecedentes y objetivo El proceso de transicion de la asistencia pediatrica a la adulta es un tema de gran interes en los ultimos anos, especialmente en enfermedades cronicas de inicio en la infancia, como los errores congenitos del metabolismo (ECM). Los avances en el diagnostico y el tratamiento de estas enfermedades han mejorado su pronostico, encontrando en la actualidad un elevado numero de pacientes con ECM que alcanzan la edad adulta y necesitan ser atendidos por profesionales no pediatricos. El objetivo de este trabajo es establecer unas pautas de actuacion para que los especialistas involucrados garanticen una transicion exitosa de la atencion sanitaria de estos pacientes. Metodologia Tras realizar una revision bibliografica del tema, los autores, partiendo de su propia experiencia, elaboraron un documento inicial que fue sometido a sucesivos debates hasta obtener el documento definitivo. En caso de discrepancia de criterio, la recomendacion de consenso se decidio por mayoria. Resultados Se presentan una serie de recomendaciones para el mejor abordaje clinico de la transicion asistencial de los pacientes con ECM desde el entorno pediatrico a la asistencia de adultos, con el objetivo de conseguir los mejores resultados en este proceso, dadas las caracteristicas especiales de este subgrupo de pacientes, asi como las principales dificultades que conlleva el proceso de transicion. Conclusiones Se resalta el papel del medico internista en este proceso de transicion y su correcta articulacion con el entorno pediatrico y social. Asimismo, se recomiendan acciones y actitudes para mejorar la calidad de dicha transicion.

The aim of this article is to study the evidence-based knowledge related to the use of biological therapies in patients diagnosed with idiopathic inflammatory myopathy (dermatomyositis, polymyositis and inclusion body myositis). In this review the leading published studies related to the use of biological therapy in patients with myositis are analysed; mainly those with high methodological standards, that means randomized and controlled studies. Methodological drawbacks due to the rarity and heterogeneity of these complex diseases are also addressed. Up to now is not possible to ascertain the biologics as a recommended therapy in patients with myositis, at least based in the current evidence-based knowledge, although it can not be neglected as a therapeutic option in some clinical situations, taking into account the scarce of effective treatments in those patients, especially in refractory myositis. Future studies probably will help to better define the role of biological therapies in patients with idiopathic inflammatory myopathy.

Epidemiologic studies of polymyositis-dermatomyositis incidence in Spain are lacking. The aim of the study was to determine the incidence rates of dermatomyositis-polymyositis and their distribution in our country.Observational and descriptive study. Data was obtained from hospital discharge code (CMBD) during the period 1997-2004. Sex, region and age were analysed. Raw and standardized incidence rates for each region studied were calculated as new cases/million population/year with 95% confidence interval (CI). Trend odds ratio (OR) was calculated by means of a logistic regression.Global incidence rate in polymyositis-dermatomyositis was 8.9 new cases/million population/year (CI 95%, 8.6-9.2); 3.9 (CI 95%, 3.7-4.1) for polymyositis and 4.9 (CI 95%, 4.7-5.2) for dermatomyositis. Rate differences between both diseases reached statistical significance (p0.001). Annual incidence rate decreased significantly across the period studied in both diseases with a trend OR of 0.95 (CI 95%, 0.93-0.97; p0.001) in dermatomyositis and 0.96 (CI 95%, 0.93-0.97; p0.001) in polymyositis. Both diseases were significantly more frequent in females (p0.001). The incidence rates for each region varies between 2.2 and 10.6 cases/million population/year in polymyositis and between 2.9 and 8.6 cases/million population/year in dermatomyositis.Incidence of dermatomyositis-polymyositis in Spain is similar to other countries. Decreased incidence observed across the period and the higher incidence of dermatomyositis could be explained because of a better diagnosis of these entities.

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.