Characterization of patients with dermatomyositis in a university hospital in Colombia

Introduction: Dermatomyositis is an idiopathic inflammatory myopathy characterized by the presence of skin lesions; it is considered a heterogeneous disease, due to its clinical presentation, course, and prognosis. In Colombia there are few records that describe the clinical characteristics of these patients. Methods: Cross-sectional study. Medical records of patients who consulted a university hospital in Colombia between January 2004 and December 2019 were reviewed. The records were obtained using databases from the dermatology, rheumatology, dermatopathology, and electrophysiology units, and CIE10 diagnostic codes. Results: Seventy patients with a dermatomyositis diagnosis were found, 63 (90%) fulfilled the Bohan and Peter diagnostic criteria and 7 (10%) had amyopathic dermatomyositis, with an average age of 43 years (SD ± 15.3). Forty-eight were women (68.5%). The most frequent clinical signs were Gottron's papules 80%, periorbital violaceous (heliotrope) erythema with edema 78.5% (n = 55) and poikiloderma 75.7% (n = 53). The most frequently found systemic manifestations were dysphagia (21.4%, n = 15), interstitial lung disease (11.4%, n = 8), and pulmonary hypertension (8.5%, n = 6). Cancer was documented in 8.5% (n = 6) of patients. Conclusion: We showed clinical information of patients with dermatomyositis in a referral hospital in Colombia. The data obtained is consistent with information from other case series worldwide.

Introducción: La dermatomiositis es una miopatía inflamatoria idiopática que se caracteriza por presentar lesiones en la piel; por su presentación clínica, su curso y su pronóstico, se la considera una enfermedad heterogénea. En Colombia existen pocos registros que describan las características clínicas de los pacientes afectados por esta enfermedad. Métodos: Estudio descriptivo de corte transversal, se revisaron las historias clínicas de pacientes que consultaron a un hospital universitario en Colombia entre enero del 2004 y diciembre del 2019. Los registros se obtuvieron utilizando bases de datos de las unidades de dermatología, reumatología, dermatopatología, electrofisiología y códigos diagnósticos CIE10 asociados con dermatomiositis. Resultados: Se obtuvieron 70 pacientes con diagnóstico de dermatomiositis, 63 (90%) de los cuales cumplían criterios de clasificación de Bohan y Peter, en tanto que 7 (10%) presentaban dermatomiositis amiopática. El promedio de edad fue de 43 arios (DS ± 15,3); 48 fueron mujeres (68,5%); los signos clínicos más frecuentes fueron: pápulas de Gottron (80%, n = 56), eritema heliotropo (78,5%, n = 55) y poiquilodermia (75,7%, n = 53). Las manifestaciones sistêmicas más comúnmente encontradas fueron: disfagia (21,4%, n = 15), enfermedad pulmonar intersticial (11,4%, n = 8) e hipertensión pulmonar (8,5%, n = 6). Se documentó cáncer en el 8,5% (n = 6) de los pacientes. Conclusión: Se presenta información clínica de pacientes con dermatomiositis en un centro hospitalario de referencia en Colombia; los datos obtenidos concuerdan con la información de otros estudios de series de casos a escala mundial.

Fever in the initial stage of IIM patients: an early clinical warning sign for AE-ILD

Abstract Background Fever is a common symptom of Idiopathic inflammatory myopathies (IIM). However, the exact correlation between fever and the prognosis of IIM is still unclear. This study aims to clarify if the IIM patients initiated with fever are associated with poorer outcomes. Methods This was a single-center retrospective cohort study. Data were collected from 79 newly diagnosed, treatment-naive IIM patients in the Affiliated Wuxi People's Hospital of Nanjing Medical University (Wuxi, Jiangsu, China) from November 2016 to June 2020. According to the presence or absence of fever at the onset, the IIM patients were divided into two groups(fever group n = 28, without fever group n = 51) Clinical characteristics, laboratory data, treatment, and outcomes were recorded. The Kaplan-Meier and log-rank tests were used to compare the all-cause mortality, relapse rate, and acute exacerbation of interstitial lung disease (AE-ILD) incidence. The association of fever with the outcomes was assessed in the unadjusted and adjusted forward logistic regression model. Results Compared with the non-fever group, the age at onset of the fever group was higher, and mechanic's hands (MH) and interstitial lung disease (ILD) were more common. Systemic inflammation (CRP and ESR) was significantly higher in the fever group, while the level of albumin(ALB) and muscle enzymes were lower. The fever group seemed to be received more aggressive treatment, with higher dose glucocorticoids and higher rates of intravenous immunoglobulins(IVIG) use. The all-cause mortality rate and the incidence rate of AE-ILD were higher in the fever group. Even adjusted for the age at onset and treatments, fever was significantly associated with AE-ILD and all-cause mortality. Conclusion Our study has demonstrated that fever at initial diagnosis is associated with AE-ILD and mortality. Fever should serve as an early clinical warning sign for poor outcomes in IIM patients.

Lethal mitochondrial trifunctional protein deficiency caused by HADHB gene variation: a case report / 中华围产医学杂志

This article reported a male neonate with lethal mitochondrial trifunctional protein deficiency (MTPD) caused by compound heterozygous variations in the HADHB gene. The patient presented with poor milk intake complicated by abnormal myocardial enzymes within 24 h after birth and was transferred to the Children's Hospital of Nanjing Medical University on day 4. Physical examination revealed no obvious abnormalities on admission. Laboratory examination showed increased creatine kinase isoenzyme and cardiac troponin levels, and electrocardiogram suggested sinus tachycardia and low QRS voltage in limb leads. Blood screening for metabolic abnormalities showed high levels of tetradecenyl carnitine and various 3-hydroxycarnitines. Heterozygous mutations of c.739C>T(p.Arg247Cys) and c.607C>T(p.Arg203Ter,272) were detected in the HADHB gene in the boy, which were pathogenic variants included in the Human Gene Mutation Database. Followed up to three months of age, the boy was readmitted to hospital due to poor milk intake for one week and poor response for 2 d after catching a cold. After admission, he quickly developed multiple organs dysfunction such as heart failure and respiratory failure, and then died. Lethal MTPD is rare with no effective treatment and poor prognosis. Lethal MTPD should be highly suspected when unexplained cardiomyopathy, hypoglycemia, acidosis and other metabolic abnormalities appear in the neonatal period, and an early diagnosis could be confirmed with genetic testing in the neonatal period.

Congenital myopathies: The current status

Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by establishing the three major CM, central core disease, nemaline myopathy, and centronuclear myopathy which later pluralized each when the molecular era began at the end of last century. Quickly, during the following 5 decades, many new CM entities were described, based on muscle biopsies and their CM-characteristic myopathology, the former a prerequisite to recognizing an individual CM, the latter of the nosological hallmark of the individual CM. When the molecular era ushered in immunohistochemistry the spectrum and nosography of CM altered in that some CM became allelic to other cohorts of NMD, e.g., congenital muscular dystrophies, other muscular dystrophies, distal myopathies based on different or identical mutations in the same gene. The nosological spectrum of a defective gene also enlarged by recognizing several entities with mutations in the same gene, and same or similar nosological conditions originated from mutations in different genes. Lately, however, CM were reported which lacked any individual myopathological hallmarks, but were clearly based on molecular defects, a fair number of them being newly identified ones. Few CM still remain without any molecular clarification. This nosographic development rendered the original definition of such new CM questionable and brought uncertainty to their classification and nomenclature.

Evolving classification and role of muscle biopsy in diagnosis of inflammatory myopathies

Idiopathic inflammatory myopathy (IIM) is a broad term that includes dermatomyositis, polymyositis, overlap myositis, sporadic inclusion body myositis, and immune-mediated necrotizing myopathy. The understanding of the pathogenesis of IIM is ever-evolving with regular updates in the classification schema. With the recognition of autoantibodies and their detection, the diagnostic algorithms are changing in favor of non-invasive diagnoses. However, muscle biopsy has immensely contributed to our understanding of the pathogenesis of inflammatory myopathies, and the pathologic features of different subtypes are well established. The biopsy also aids in distinguishing myopathies with overlapping clinical features, particularly dystrophies, which can show inflammation on biopsy in some cases. In this article, the various classification schemes of the IIM are reviewed. Also, the pathogenesis and pathology of each type of IIM have been highlighted. This article emphasizes the role of muscle biopsy in the diagnosis of inflammatory myopathies.

Prenatal diagnosis and genetic etiology analysis of a fetus with nemaline myopathy / 中华围产医学杂志

We reported a fetus with limb abnormalities and abnormal ultrasound soft markers diagnosed with nemaline myopathy. A pregnant woman (G1P0) underwent amniocentesis at 18 +2 gestational weeks due to thickened nuchal translucency suggested by ultrasound at 13 +5 gestational weeks. Karyotyping and single nucleotide polymorphism array of the amniotic fluid cells showed no fetal abnormalities. However, ultrasonographic reexaminations at 23, 28, and 28 +1 weeks indicated limb abnormalities and thickened nuchal fold, and the pregnant woman chose to terminate the pregnancy at 29 +2 gestational weeks. Whole exome sequencing showed compound heterozygous mutations of c.602G>A (p.W201*) and c.1516A>C (p.T506P) in the KLHL40 gene inherited from the mother and the father, respectively, resulting in nemaline myopathy type 8.

Gathering patients and rheumatologists' perceptions to improve outcomes in idiopathic inflammatory myopathies

Abstract Objective Therapeutic targets in Idiopathic Inflammatory Myopathies (IIM) are based on the opinions of physicians/specialists, which may not reflect the main concerns of patients. The authors, therefore, assessed the outcome concerns of patients with IIM and compared them with the concerns of rheumatologists in order to develop an IIM outcome standard set. Methods Ninety-three IIM patients, 51 rheumatologists, and one physiotherapist were invited to participate. An open questionnaire was initially applied. The top 10 answers were selected and applied in a multiple-choice questionnaire, inquiring about the top 3 major concerns. Answers were compared, and the agreement rate was calculated. Concerns were gathered in an IIM outcome standard set with validated measures. Results The top three outcome concerns raised by patients were medication side effects/muscle weakness/prevention functionality loss. The top three concerns among rheumatologists were to prevent loss of functionality/to ensure the quality of life/to achieve disease remission. Other's outcomes concerns only pointed out by patients were muscle pain/diffuse pain/skin lesions/fatigue. The agreement rate between both groups was 41%. Assessment of these parameters guided the development of an IIM standard set which included Myositis Disease Activity Assessment Visual Analogue Scale/Manual Muscle Testing/fatigue and pain Global Visual Analogue Scale/Health Assessment Questionnaire/level of physical activity. Conclusion The authors propose a novel standard set to be pursued in IIM routine follow-up, which includes not only the main patients/rheumatologist outcome concerns but also additional important outcomes only indicated by patients. Future studies are necessary to confirm if this comprehensive approach will result in improved adherence and ultimately in better assistance.

Diagnosis and treatment of postoperative malignant hyperthermia in a pediatric patient with congenital myopathy due to RyR1 gene mutations / 中华麻醉学杂志

A 14-year-old male pediatric patient was admitted to the hospital mainly because of neck and back deformity, with limited activity for 7 yr, dysphagia and short of breath for more than 10 months.He was diagnosed with cervical lordosis deformity, RyR1 gene-related myopathy, high possibility of multi-minicore disease and being susceptible to malignant hyperthermia.Posterior cervical orthopedic internal fixation surgery was successfully performed under total intravenous anesthesia with propofol.The vital signs were stable during anesthesia and operation which lasted for 10 h. The patient was admitted to intensive care unit after the uneventful operation.When emerging from general anesthesia, the patient suddenly presented with symptoms of muscular fasciculation in the head, face, trunk and limbs, along with elevated body temperature as high as 39.4℃, severe acidosis and hypercapnia, meanwhile, the blood creatine kinase, blood myoglobin and urinary myoglobin gradually increased.The patient was diagnosed with malignant hyperthermia based on the clinical grading scale score of 63.Dantrolene sodium was infused intravenously, combined with multiple treatments such as physical cooling, correction of acidosis and electrolyte disturbance, alkalization of urine, intermittent hemofiltration and plasma exchange.The arrhythmia and delirium were treated symptomatically.The pediatric patient was fully recovered and discharged with good outcomes.

The relevance of anti-Jo-1 autoantibodies in patients with definite dermatomyositis

Abstract Background: To assess the prevalence and clinical relevance of anti-Jo-1 autoantibodies in a representative sample of patients with definite dermatomyositis (DM). Methods: This retrospective cohort study took place from 2005 to 2020 and assessed 118 adult patients from a tertiary center who were diagnosed with definite DM. A commercial kit was used to detect anti-Jo-1 autoantibodies. Results: The presence of anti-Jo-1 autoantibodies was observed in 10 out of 118 (8.5%) patients with definite DM. The following variables were comparable between individuals with and without anti-Jo-1 autoantibodies: age at diagnosis, sex, ethnicity, disease duration, follow-up period, recurrence rate, complete clinical response, death rate, and cancer incidence. There was no difference in clinical features between groups, except for an increased prevalence of "mechanic's hands," joint involvement, and lung disease, as well as a reduced occurrence of skin findings in patients positive for anti-Jo-1 autoantibodies. No anti-Jo-1-positive patients went into remission; they required greater use of glucocorticoids and immunosuppressive drugs. Conclusions: Anti-Jo-1 positivity was found in 8.5% of patients with definite DM. This autoantibody was associated with an antisynthetase syndrome phenotype and might predict clinical outcomes in patients with definite DM.(AU)

Miopatia mitocondrial e deficiência auditiva neurossensorial: estudo de caso / Mitochondrial myopathy and sensorineural hearing loss: case study

Resumo A miopatia mitocondrial é causada pela ausência e/ou insuficiência de uma enzina quaternária, L-carnitina, responsável por transportar ácidos graxos livres para a parte interna da mitocôndria. A função da mitocôndria é produzir energia, contribuindo para o bom funcionamento das células. A Lipidose Muscular é uma doença que provoca anomalias em enzimas que metabolizam gordura e por consequência causa acúmulo de toxinas de subprodutos com gordura nos tecidos. O objetivo deste trabalho é apresentar o estudo de caso da paciente B.D., 37 anos, diagnosticada com Lipidose Muscular aos seis anos, com deficiência de L-Carnitina e relatar o acompanhamento fonoaudiológico realizado em um serviço de saúde auditiva. A abertura de prontuário da paciente foi realizada em 05/03/1989. Foi prescrito pelo neurologista o uso contínuo de 2g/dia de L-carnitina. A mãe relatou que B.D. apresentava dificuldades em ouvir, pois era muito desatenta, o que foi mais evidente quando começou a frequentar a escola. Em 1988, a paciente foi diagnosticada com perda auditiva neurossensorial de grau moderado bilateral e começou a fazer uso de aparelhos de amplificação sonora individual retroauriculares em 1989. O desempenho escolar e comunicação melhoraram. Em 1998, passou a utilizar aparelhos tipo micro canal, o que a favoreceu esteticamente, promoveu melhora da localização sonora e maior ganho em altas frequências. Os limiares de audibilidade apresentaram uma leve piora e a paciente atualmente é pós-graduada e trabalha em uma grande instituição financeira. Conclui-se que o diagnostico neurológico e a intervenção fonoaudiológica precoces possibilitaram o adequado desenvolvimento de linguagem da paciente.

Abstract Mitochondrial myopathy is caused by the absence and/or insufficiency of L-carnitine, a quaternary enzyme responsible for transporting free fatty acids into the mitochondria. The primary function of the mitochondria is to produce energy, contributing to proper cell functioning. Muscular lipidosis causes abnormalities in enzymes that metabolize fat, resulting in the accumulation of harmful amounts of fats in tissues. The aim of this study was to present the case study of patient B.D., a 37-year-old woman diagnosed with muscular lipidosis with L-carnitine deficiency at 6 years old, and describe the speech-language follow-up performed at a hearing care clinic. The first entry in the patient's medical chart was on 03/05/1989, with continuous use of 2g/day of L-carnitine prescribed by a neurologist. The mother reported that B.D. had difficulty hearing and was inattentive, which became more evident when she started school. In 1988 the patient was diagnosed with moderate bilateral sensorineural hearing loss and began using behind-the-ear (BTE) hearing aids in 1989, after which her academic performance and communication improved. In 1998 she switched to Completely in Canal (CIC) hearing aids, which are more discreet, provided better sound localization and greater high frequency gain, although her hearing thresholds worsened slightly. She completed her graduate studies and currently works at a large financial institution. It was concluded that early neurological diagnosis and speech-language intervention enabled adequate language development in the patient.

Inicio de dermatomiositis juvenil en un escolar de 7 años de edad / Debut of juvenile dermatomyositis in a 7-year-old schoolboy

La dermatomiositis es una enfermedad que afecta con mayor frecuencia a pacientes mayores de 60 años y preferiblemente del sexo femenino. Sin embargo, en algunas ocasiones aparece en la edad infantil. Se exponen los elementos medulares que permiten el diagnóstico de esta enfermedad. Se presenta el caso de una escolar de 7 años de edad que acude al servicio de emergencia con manifestaciones clínicas sugerentes de una dermatomiositis juvenil. Las manifestaciones clínicas y los resultados de los exámenes complementarios permitieron llegar al diagnóstico definitivo de la enfermedad. Fue necesario hacer el diagnóstico diferencial con otras afecciones que cursan con síntomas similares. La paciente comenzó a mostrar una evolución favorable, lo que motivó el alta hospitalaria con tratamiento para el hogar y seguimiento por consulta externa con la especialidad de Reumatología. Conclusiones: A pesar de presentar un patrón epidemiológico predominante en adultos mayores, la dermatomiositis puede aparecer en edades más tempranas. Aunque las manifestaciones clínicas orientan hacia su diagnóstico, este se confirma con la ayuda de determinados exámenes complementarios(AU)

Dermatomyositis is a disease that occurs more frequently in patients older than 60 years and preferably female; however, sometimes it occurs in children. To publicize the core elements that allow the diagnosis of this disease. The case of a 7-year-old schoolgirl who comes to the emergency service with clinical manifestations suggesting a juvenile dermatomyositis is presented. The clinical manifestations and the results of the complementary examinations allowed to reach the definitive diagnosis of the disease, it was necessary to make the differential diagnosis with other conditions that present with similar symptomatology. Conclusions: despite presenting a predominant epidemiological pattern in older adults, dermatomyositis may occur at earlier ages; although the clinical manifestations are oriented towards its diagnosis, it is confirmed with the help of certain complementary tests(AU)

Avances en el empleo del ultrasonido muscular en miopatías inflamatorias / Advances in the use of muscle ultrasound in inflammatory myopathies

Aunque los métodos de imágenes aún no se han introducido en los criterios de clasificación de la miositis, el uso de imágenes musculares en la evaluación de las miopatías inflamatorias idiopáticas (MII) ha crecido a lo largo de los años. Las diferentes técnicas de imagen han demostrado ser útiles, pero la RM sigue siendo el estándar de oro para la imagen muscular. Sin embargo, el alto costo y las contraindicaciones en algunos pacientes, hacen considerar otros métodos como el ultrasonido muscular. Esta revisión tiene el objetivo de ofrecer una visión general de las diferentes técnicas de ultrasonido que se han estudiado y proporcionar información a los reumatólogos sobre el papel actual del ultrasonido para diagnosticar las MII. Existen diversos factores que pueden influir en la medición de los parámetros musculares: estandarizar la configuración de la máquina, el plano de visión y la posición del paciente, ya que pueden afectar la medición de la intensidad del eco y el grosor muscular. En el caso de las miopatías inflamatorias influyen otros factores en los resultados de la imagen: sexo, edad, escala de grises de la imagen, cambios en la calidad muscular, intensidad del eco, grosor, tamaño y ecogenicidad muscular. La ecografía muscular es una herramienta próxima en la evaluación de los trastornos neuromusculares y las miopatías inflamatorias. Es fácilmente aplicable en diversos entornos clínicos, no tiene contraindicaciones y proporciona una alternativa rentable a otras modalidades de imágenes como la resonancia magnética(AU)

Although imaging methods have not yet been introduced into the myositis classification criteria, the use of muscle imaging in the evaluation of IIMs has grown over the years. Different imaging techniques have proven helpful, but MRI remains the gold standard for muscle imaging. In this review, the objective is to provide an overview of the different ultrasound techniques that have been studied and to provide information to rheumatologists about the current role of ultrasound in the field of IIM. Development: There are multiple factors that can influence the measurement of muscle parameters that must be considered. First, it is important to standardize the machine configuration, the plane of vision and the position of the patient, as these can affect the measurement of echo intensity and muscle thickness. Conventionally, a linear ultrasound probe is used with sufficient frequency (at least 6-12 MHz) to obtain images of the peripheral skeletal muscle. Magnetic resonance imaging remains the gold standard for muscle imaging. However, the role as a diagnostic tool in the field of IIMs has grown over the years, and the promising results of new advanced imaging techniques suggest that it has not yet reached its full potential(AU)

Métodos de diagnóstico en el estudio de las Miopatías Inflamatorias Autoinmunes: Datos del Registro Argentino de Miopatías Inflamatorias de la Sociedad Argentina de Reumatología / Diagnostic methods in the study of Inflammatory Myopathies. Data from the Argentine Register: Argentine Rheumatology Society

Las Miopatías Inflamatorias Autoinmunes (MI) comprenden un grupo de enfermedades heterogéneas con presentación y características clínicas variables. Se distinguen subtipos clínicos como Polimiositis (PM), Dermatomiositis (DM), Miositis por cuerpos de Inclusión (MCI), Miopatía Necrotizante Inmunomediada (MNIM), Miositis de los Síndromes de Superposición, formas juveniles de MI (DMJ), Síndrome Antisintetasa (SAS) y Miopatía Asociada a Cáncer (MAC). La presencia de anticuerpos séricos y el infiltrado inflamatorio en la biopsia de músculo sugiere que se trata de una condición autoinmune. Realizar el diagnóstico de las MI suele ser un desafío y las herramientas diagnósticas no siempre están disponibles en la práctica diaria. Se obtuvo información sobre la disponibilidad de estos métodos del Registro Argentino de Miopatías Inflamatorias. El estudio de enzimas musculares, Anticuerpos Antinucleares (ANA), anticuerpo anti-Jo-1 y la tomografía computada de tórax, estuvieron disponibles para la mayoría de los pacientes mientras que la Resonancia Magnética de musculo (RM), el estudio de difusión de monóxido de carbono (DLco) y la biopsia muscular se realizaron en menos del 50% de los casos. La determinación de otros anticuerpos específicos de miositis, de importancia en el diagnóstico y pronóstico de la enfermedad se realizó, en mayor parte, a través de un subsidio de la SAR.

The Idiopathic Inflammatory Myopathies (IIM) comprise a heterogeneous group of acquired muscle diseases classified as polymyositis (PM), dermatomyositis (DM), Inclusion Body Myositis (IBM), Immuno Mediated Necrotizing Myopathies (IMNM), Overlap Myositis (OM), juvenile myositis, Antisynthethase Syndrome (ASS) and cancer related myositis (CAM). The presence of myositis specific antibodies in the serum and autoantibodies against target antigens and inflammatory infiltrates in muscle tissue suggests the autoimmune condition of the disease. The diagnosis of inflammatory myopathies is often a challenge and the disposal of diagnostic tools are not always available in daily practice. Information on the accessibility of these methods was obtained from the Argentine Register of Myopathies. The study of muscle enzymes, ANA, anti-Jo-1 antibodies and chest tomography were easy to get to most patients while muscle MRI, lung diffusion capacity for carbon monoxide (DLco) and muscle biopsy were performed in less than 50% of cases. Other myositis specific antibodies, necessary for disease diagnosis and prognosis, were mostly done through a subsidy from the Argentine Rheumatology Society.

Profile of various idiopathic inflammatory myopathies at two university hospitals in Yangon, Myanmar

@#Objective: to determine the distribution of various idiopathic inflammatory myopathies (IIM) and their profile at the largest university hospitals in Yangon, Myanmar. Method: It was a hospital based prospective study recruiting IIM patients admitted to Neurology and Rheumatology ward over a 1.5 year period from September 2017 to February 2019. Results: Among total 51 IIM patients recruited, 62.7% presented to Neurology ward and 37.3% to Rheumatology ward. Overlap myositis (OM) was the commonest (43%), followed by immune-mediated necrotizing myopathy (IMNM) 27%, dermatomyositis (DM) 24%, polymyositis (PM) 6%. Among OM, anti-synthetase syndrome (ASS) was 23%, and among IMNM, anti-SRP positive was 79%. IMNM and PM patients presented more to neurologists while OM/ASS and DM more to rheumatologists; 82% were females (F:M= 4.6:1). Mean age of onset of myositis was 40.2 + 17.8 years, and duration of symptoms before presentation was 10-3,600 days (shortest in anti-SRP and longest in anti-HMGCR myopathy). Myositis antibodies were positive in 67%. CK range was 40-25,690 U/l, highest in IMNM and lowest in DM. Associated connective tissue diseases among OM in order of descending frequency were 47% systemic lupus erythematosus, 24% Sjogren syndrome, 41% scleroderma and 12% rheumatoid arthritis. Associated cancer identified were one lung cancer in DM, one breast cancer in OM, one buccal cancer in IMNM cases. Conclusions: With recent availability of myositis antibody panel and MHC staining in Myanmar, we have applied current updated classification to describe the first Myanmar data on IIM cases.

Necrotizing Autoimmune Myopathy: A Case Series

@#Necrotizing autoimmune myopathy (NAM) is considered a new subgroup of a rare autoimmune idiopathic inflammatory myopathies. Classically, NAM presented with sub-acute onset of proximal muscle loss of power with raised creatinine kinase and characteristic muscle biopsy showing muscle necrosis and regeneration with little inflammation. Statin use, connective tissue diseases, malignancy and HIV infection are the identified risk factors for NAM. The autoantibodies expected to be presented in NAM are anti-signal recognition particle (SRP) and anti-hydroxymethylglutaryl-coenzyme A reductase (anti-HMGCR) antibodies. In this article, we present three cases of NAM with different risk factors and autoantibodies which we believe to have impact on the clinical course and outcome of our patients

Métodos de diagnóstico en el estudio de las Miopatías Inflamatorias Autoinmunes: Datos del Registro Argentino de Miopatías Inflamatorias de la Sociedad Argentina de Reumatología / Diagnostic methods in the study of myopathies Inflammatory Autoimmune: Data from the Argentine Registry of Inflammatory Myopathies of the Argentine Society of Rheumatology

Las Miopatías Inflamatorias Autoinmunes (MI) comprenden un grupo de enfermedades heterogéneas con presentación y características clínicas variables. Se distinguen subtipos clínicos como Polimiositis (PM), Dermatomiositis (DM), Miositis por cuerpos de Inclusión (MCI), Miopatía Necrotizante Inmunomediada (MNIM), Miositis de los Síndromes de Superposición, formas juveniles de MI (DMJ), Síndrome Antisintetasa (SAS) y Miopatía Asociada a Cáncer (MAC).La presencia de anticuerpos séricos y el infiltrado inflamatorio en la biopsia de músculo sugiere que se trata de una condición autoinmune. Realizar el diagnóstico de las MI suele ser un desafío y las herramientas diagnósticas no siempre están disponibles en la práctica diaria. Se obtuvo información sobre la disponibilidad de estos métodos del Registro Argentino de Miopatías Inflamatorias. El estudio de enzimas musculares, Anticuerpos Antinucleares (ANA), anticuerpo anti-Jo-1 y la tomografía computada de tórax, estuvieron disponibles para la mayoría de los pacientes mientras que la Resonancia Magnética de musculo (RM), el estudio de difusión de monóxido de carbono (DLco) y la biopsia muscular se realizaron en menos del 50% de los casos. La determinación de otros anticuerpos específicos de miositis, de importancia en el diagnóstico y pronóstico de la enfermedad se realizó, en mayor parte, a través de un subsidio de la SAR.

The Idiopathic Inflammatory Myopathies (IIM) comprise a heterogeneous group of acquired muscle diseases classified as polymyositis (PM), dermatomyositis (DM), Inclusion Body Myositis(IBM), ImmunoMediated Necrotizing Myopathies, (IMNM), Overlap Myositis(OM), juvenile myositis, Antisynthethase Syndrome (ASS) and cancer related myositis(CAM).The presence of myositis specific antibodies in the serum and autoantibodies against target antigens and inflammatory infiltrates in muscle tissue suggests the autoimmune condition of the disease. The diagnosis of inflammatory myopathies is often a challenge and the disposal of diagnostic tools are not always available in daily practice. Information on the accessibility of these methods was obtained from the Argentine Register of Myopathies. The study of muscle enzymes, ANA, anti-Jo-1 antibodies and chest tomography were easy to get to most patients while muscle MRI, lung diffusion capacity for carbon monoxide (DLco%) and muscle biopsy were performed in less than 50% of cases. Other myositis specific antibodies, necessary for disease diagnosis and prognosis, were mostly done through a subsidy from the Argentine Rheumatology Society.

Classification of idiopathic inflammatory myopathies based on clinical manifestations and myositis-specific antibodies / 南方医科大学学报

OBJECTIVE@#To investigate the classification of idiopathic inflammatory myopathies (IIM) based on clinical manifestations and myositis- specific antibodies using cluster analysis.@*METHODS@#We retrospectively analyzed the data of patients with IIM admitted in Nanfang Hospital in 2015-2019. The clinical data of the patients including serum creatine kinase (CK), interstitial lung disease (ILD), cancer, and myositis-specific antibodies were collected for two-step cluster analysis to identify the distinct clusters of patients, whose clinical characteristics were subsequently analysed.@*RESULTS@#A total of 71 patients with IIM were included in this study, including 30 (42.3%) with polymyositis (PM), 20 (28.2%) with classic dermatomyositis (DM), 16 (22.5%) with amyopathic dermatomyositis (CADM), and 5 (7.0%) with immune-mediated necrotizing myopathy (IMNM). Two-step cluster analysis identified 3 distinctive subgroups: Cluster 1 of 15 (51.7%) patients characterized by rash, positive anti-MDA5 antibody and hypoproteinemia ( < 0.05) with normal or slightly elevated CK level, mainly corresponding to CADM; Cluster 2 of 4 (57.1%) patients with significantly elevated CK and positive anti-SRP antibody ( < 0.001) corresponding to IMNM; and Cluster 3 of 17 (48.6%) patients consisting primarily of patients with PM, characterized by positivity for anti- aminoacyl transfer RNA synthetases antibodies (=0.022) corresponding to antisynthetase syndrome (ASS).@*CONCLUSIONS@#Patients with IIM can be divided into 3 subgroups based on their clinical and serological characteristics (especially myositis-specific antibodies), and among them ASS may represent an independent IIM subgroup with unique clinical characteristics.

Neumopatía crónica secundaria al trastorno de la deglución en un paciente con miopatía mitocondrial / Chronic pneumopathy secondary to swallowing disorder in a patient with mitochondrial myopathy

RESUMEN Introducción: la enfermedad pulmonar crónica secundaria a la disfagia es una complicación frecuente en los pacientes con enfermedades neuromusculares. Las miopatías mitocondriales son un conjunto de enfermedades que pueden conducir a daño pulmonar progresivo, secundario al síndrome aspirativo crónico. Caso clínico: niño de 7 años con signos clínicos y radiológicos de enfermedad pulmonar crónica; además, con desnutrición crónica, debilidad muscular, disfonía y oculoparesia externa crónica multiplanar. Su padre tuvo síntomas similares desde la infancia y requirió alimentación con dieta espesa por trastorno de la deglución. Se confirma en el paciente la presencia de disfagia como la causa de la neumopatía crónica y se sospecha miopatía congénita hereditaria. En consecuencia, se realiza el diagnóstico de enfermedad mitocondrial con oculoparesia externa crónica, mediante la secuenciación del gen polimerasa gamma del ADN mitocondrial (POLG). Conclusiones: en los pacientes con neumopatía crónica se deben considerar las enfermedades neuromusculares en el diagnóstico diferencial. La miopatía mitocondrial con oculoparesia externa crónica progresiva, se asocia con trastorno de la deglución hasta en un 50 % de los casos. El diagnóstico temprano es importante para retardar el deterioro de la función pulmonar.

SUMMARY Introduction: Chronic lung disease secondary to dysphagia is a frequent complication in patients with neuromuscular diseases. Mitochondrial myopathies could lead to progressive lung damage due to chronic aspiration syndrome. Clinical case: Seven-year-old male with clinical and radiological signs of chronic lung disease, as well as low weight, weakness, dysphonia and multiplanar external oculoparesis. His father had similar symptoms during infancy and needed thickened liquid diet due to swallowing disorder. Dysphagia was confirmed as the cause of chronic lung disease and, therefore, hereditary congenital myopathy was suspected. Mitochondrial disease with chronic external oculoparesis was confirmed by molecular sequencing of the mitochondrial DNA gamma polymerase gene (POLG). Conclusion: Neuromuscular disorders may cause chronic lung disease. Mitochondrial myopathy with progressive chronic external oculoparesis is associated with swallowing disorder in 50 % of the cases. Early diagnosis is important to slow decline in lung function.

Idiopathic inflammatory myopathy / 中华神经科杂志

Idiopathic inflammatory myopathies (IIM) are a group of acquired immune myopathy,which mainly include polymyositis,dermatomyositis,amyopathic dermatomyositis,sporadic inclusion body myosistis (sIBM) and immune-mediated necrotizing myopathy,as well as some special types of antisynthetase syndrome,anti-signal recognition particle antibody positive necrotizing myopathy (NM),anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody positive NM.The diagnosis of these different types of IIM mainly depends on clinical manifestations,antibody detection and muscle pathological techniques.Different types of IIM have different clinical manifestations,or overlapping manifestations.This article systematically describes the evolution of IIM types,the main antibodies to myositis,the pathological characteristics of muscles,the manifestations of various types and the treatment of myositis.In addition to sIBM,patients with most of the other types of IIM have good outcomes by early diagnosis,timely,correct and adequate drug treatment.