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1.
J Med Case Rep ; 18(1): 107, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38383436

RESUMO

BACKGROUND: The cardiovascular system is among the least systems affected by immune-related adverse events. We report a rare life-threatening case of pembrolizumab-induced myocarditis with complete atrioventricular block and concomitant myositis in a metastatic bladder cancer patient. CASE PRESENTATION: An 82-year-old Caucasian female with invasive urothelial carcinoma, started on first-line pembrolizumab, was admitted four days after receiving her second dose for severe asthenia, diffuse muscle aches, neck pain, and lethargy. In the emergency department, she had several episodes of bradycardia reaching 40 beats per minute associated with general discomfort and fatigue. Electrocardiography showed a third-degree atrioventricular heart block, while the patient remained normotensive. Cardiac damage parameters were altered with elevated levels of creatine phosphokinase of 8930 U/L, suggestive of immune checkpoint inhibitor-induced myositis, and troponin T of 1.060 ng/mL. Transthoracic echocardiography showed a preserved ejection fraction. Pembrolizumab-induced myocarditis was suspected. Therefore, treatment was initiated with high-dose glucocorticoids for 5 days, followed by a long oral steroid taper. A pacemaker was also implanted. Treatment resulted in the resolution of heart block and a decrease in creatine phosphokinase to the normal range. CONCLUSION: Life-threatening cardiac adverse events in the form of myocarditis may occur with pembrolizumab use, warranting vigilant cardiac monitoring. Troponin monitoring in high-risk patients, along with baseline echocardiography may help identify this complication promptly to prevent life-threatening consequences.


Assuntos
Anticorpos Monoclonais Humanizados , Antineoplásicos Imunológicos , Bloqueio Atrioventricular , Carcinoma de Células de Transição , Miocardite , Miosite , Neoplasias da Bexiga Urinária , Humanos , Feminino , Idoso de 80 Anos ou mais , Miocardite/induzido quimicamente , Neoplasias da Bexiga Urinária/tratamento farmacológico , Bloqueio Atrioventricular/induzido quimicamente , Bloqueio Atrioventricular/complicações , Bloqueio Atrioventricular/tratamento farmacológico , Antineoplásicos Imunológicos/efeitos adversos , Miosite/induzido quimicamente , Miosite/tratamento farmacológico , Creatina Quinase
2.
Clin Rheumatol ; 43(3): 1145-1154, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38326675

RESUMO

OBJECTIVES: Myositis-specific antibodies (MSAs) and myositis-associated antibodies (MAAs) are associated with distinctive dermatomyositis (DM) clinical phenotypes. The aim of this study is to explicate the clinical and immunological features of MSAs-negative DM patients. METHODS: A total of 515 individuals diagnosed with DM was screened from 2013 to 2022 and 220 DM patients were enrolled in this retrospective cohort. Clinical and laboratory data of these patients were analyzed. RESULTS: MSAs-negative DM patients were categorized into two groups: MAAs-negative (MSAs (-)/MAAs (-)) group and MAAs-positive (MSAs (-)/MAAs (+)) group. The percentage of Raynaud's phenomenon (P=0.026) was higher in the MSAs (-)/MAAs (+) DM patients than the MSAs-positive DM patients and MSAs (-)/MAAs (-) DM patients. The proportion of rapidly progressive interstitial lung disease (RP-ILD) in the MSAs-negative DM patients was lower than that in the MSAs-positive group. The MSAs (-)/MAAs (+) group had a higher proportion of organizing pneumonia and usual interstitial pneumonia (P=0.011), and elevated eosinophils in their bronchoalveolar lavage fluid (P=0.008). Counts of lymphocytes (P=0.001) and CD16+CD56+ natural killer (NK) cells (P=0.012) were higher in the MSAs-negative group. Additionally, the percentage of CD4+TNFα+ (P=0.040), CD4+IFNγ+ (P=0.037), and CD4+IL-2+ (P=0.018) cells among total CD4+ T cells were higher in the MSA-negative DM patients compared with the MSAs-positive DM patients. Besides, MSAs-negative patients demonstrated a more favorable prognosis than MSAs-positive patients. Multivariable regression analysis identified advanced onset age, higher level of carcinoembryonic antigen (CEA), and RP-ILD as risk factors for mortality in DM patients. CONCLUSIONS: Compared with MSAs-positive group, MSAs-negative DM patients suffered less from organ involvement compared with MSAs-positive group and tend to have better prognosis. Key Points MSAs-negative DM patients exhibited distinct characteristics in comparison with MSAs-positive DM patients:   • The MSAs (-)/MAAs (+) DM patients demonstrated a higher prevalence of organizing pneumonia (OP) and usual interstitial pneumonia (UIP), and elevated eosinophil counts in bronchoalveolar lavage fluid.   • CEA levels were lower in MSAs-negative patients compared with MSAs-positive patients.   • Elevated counts of lymphocytes and CD16+CD56+ NK cells were identified in the MSAs-negative patients. Additionally, proportions of CD4+TNFα+, CD4+IFNγ+, and CD4+IL-2+ cells among total CD4+ T cells were higher in the MSAs-negative DM patients compared with DM MSAs-positive DM patients.   • MSAs-negative DM patients had a more favorable prognosis than MSAs-positive DM patients. A multivariable regression analysis revealed the advanced onset age, high CEA levels, and RP-ILD were risk factors for mortality in DM patients.


Assuntos
Dermatomiosite , Fibrose Pulmonar Idiopática , Doenças Pulmonares Intersticiais , Miosite , Pneumonia em Organização , Humanos , Autoanticorpos , Antígeno Carcinoembrionário , Estudos de Casos e Controles , Estudos Retrospectivos , Interleucina-2 , Fator de Necrose Tumoral alfa , Doenças Pulmonares Intersticiais/etiologia , Prognóstico , Fibrose Pulmonar Idiopática/complicações
3.
J Investig Med High Impact Case Rep ; 12: 23247096241231646, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38353222

RESUMO

Immune-mediated necrotizing myopathy (IMNM) is a rare subtype of idiopathic inflammatory myopathy that is characterized by severe subacute proximal weakness, myofiber necrosis, and significantly elevated serum creatine kinase. Anti-signal recognition particle (SRP) and anti-3-hydroxy-3-methylglutaryl-coenzyme-A reductase autoantibodies have been found in about two-thirds of patients with IMNM. This myopathy is usually idiopathic and there is a scarce literature concerning its association with connective tissue diseases. Herein, we report an unusual case of a young woman who presented with both rheumatoid arthritis and severe anti-SRP IMNM. Thankfully to a therapeutic protocol combining rituximab and cyclophosphamide, an important improvement was achieved, and notably no serious side effect was observed.


Assuntos
Artrite Reumatoide , Doenças Autoimunes , Doenças Musculares , Miosite , Feminino , Humanos , Partícula de Reconhecimento de Sinal , Miosite/diagnóstico , Miosite/tratamento farmacológico , Artrite Reumatoide/complicações , Artrite Reumatoide/tratamento farmacológico
4.
Sci Rep ; 14(1): 3450, 2024 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-38342952

RESUMO

This study aims to use spatial transcriptomics to characterize the cell-type-specific expression profile associated with the microscopic features observed in Wooden Breast myopathy. 1 cm3 muscle sample was dissected from the cranial part of the right pectoralis major muscle from three randomly sampled broiler chickens at 23 days post-hatch and processed with Visium Spatial Gene Expression kits (10X Genomics), followed by high-resolution imaging and sequencing on the Illumina Nextseq 2000 system. WB classification was based on histopathologic features identified. Sequence reads were aligned to the chicken reference genome (Galgal6) and mapped to histological images. Unsupervised K-means clustering and Seurat integrative analysis differentiated histologic features and their specific gene expression pattern, including lipid laden macrophages (LLM), unaffected myofibers, myositis and vasculature. In particular, LLM exhibited reprogramming of lipid metabolism with up-regulated lipid transporters and genes in peroxisome proliferator-activated receptors pathway, possibly through P. Moreover, overexpression of fatty acid binding protein 5 could enhance fatty acid uptake in adjacent veins. In myositis regions, increased expression of cathepsins may play a role in muscle homeostasis and repair by mediating lysosomal activity and apoptosis. A better knowledge of different cell-type interactions at early stages of WB is essential in developing a comprehensive understanding.


Assuntos
Doenças Musculares , Miosite , Doenças das Aves Domésticas , Animais , Galinhas/genética , Galinhas/metabolismo , Metabolismo dos Lipídeos/genética , Doenças Musculares/genética , Doenças Musculares/veterinária , Doenças Musculares/metabolismo , Perfilação da Expressão Gênica , Músculos Peitorais/patologia , Miosite/metabolismo , Lipídeos , Doenças das Aves Domésticas/genética
6.
N Engl J Med ; 390(8): 687-700, 2024 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-38381673

RESUMO

BACKGROUND: Treatment for autoimmune diseases such as systemic lupus erythematosus (SLE), idiopathic inflammatory myositis, and systemic sclerosis often involves long-term immune suppression. Resetting aberrant autoimmunity in these diseases through deep depletion of B cells is a potential strategy for achieving sustained drug-free remission. METHODS: We evaluated 15 patients with severe SLE (8 patients), idiopathic inflammatory myositis (3 patients), or systemic sclerosis (4 patients) who received a single infusion of CD19 chimeric antigen receptor (CAR) T cells after preconditioning with fludarabine and cyclophosphamide. Efficacy up to 2 years after CAR T-cell infusion was assessed by means of Definition of Remission in SLE (DORIS) remission criteria, American College of Rheumatology-European League against Rheumatism (ACR-EULAR) major clinical response, and the score on the European Scleroderma Trials and Research Group (EUSTAR) activity index (with higher scores indicating greater disease activity), among others. Safety variables, including cytokine release syndrome and infections, were recorded. RESULTS: The median follow-up was 15 months (range, 4 to 29). The mean (±SD) duration of B-cell aplasia was 112±47 days. All the patients with SLE had DORIS remission, all the patients with idiopathic inflammatory myositis had an ACR-EULAR major clinical response, and all the patients with systemic sclerosis had a decrease in the score on the EUSTAR activity index. Immunosuppressive therapy was completely stopped in all the patients. Grade 1 cytokine release syndrome occurred in 10 patients. One patient each had grade 2 cytokine release syndrome, grade 1 immune effector cell-associated neurotoxicity syndrome, and pneumonia that resulted in hospitalization. CONCLUSIONS: In this case series, CD19 CAR T-cell transfer appeared to be feasible, safe, and efficacious in three different autoimmune diseases, providing rationale for further controlled clinical trials. (Funded by Deutsche Forschungsgemeinschaft and others.).


Assuntos
Antígenos CD19 , Imunoterapia Adotiva , Lúpus Eritematoso Sistêmico , Agonistas Mieloablativos , Miosite , Escleroderma Sistêmico , Humanos , Antígenos CD19/administração & dosagem , Síndrome da Liberação de Citocina/etiologia , Seguimentos , Lúpus Eritematoso Sistêmico/terapia , Miosite/terapia , Escleroderma Sistêmico/terapia , Agonistas Mieloablativos/administração & dosagem , Ciclofosfamida/administração & dosagem , Infecções/etiologia , Resultado do Tratamento
7.
Arthritis Res Ther ; 26(1): 27, 2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38233885

RESUMO

BACKGROUND: Dermatomyositis is an idiopathic inflammatory myopathy characterised by rashes and progressive muscle weakness. The recent ProDERM (Progress in DERMatomyositis) study is the first large randomised, placebo-controlled trial to establish the efficacy and safety of intravenous immunoglobulin (IVIg) in adult patients with dermatomyositis. Objectives of this analysis were to closely examine the safety and tolerability of IVIg in patients from the ProDERM study. METHODS: ProDERM was a double-blind, randomised, placebo-controlled, multicentre, phase 3 study. In the first period (weeks 0-16), adults with active dermatomyositis received 2.0 g/kg IVIg (Octagam 10%; Octapharma AG) or placebo every 4 weeks. In the open-label extension period (weeks 16-40), all patients received IVIg for 6 additional cycles; dose reduction (1.0 g/kg) was permitted if patients were stable. Treatment-emergent adverse events (TEAEs) were documented. RESULTS: The 95 patients enrolled were randomised to receive IVIg (N = 47) or placebo (N = 48) in the first period, with 5 switching from placebo to IVIg. Overall, 664 IVIg infusion cycles were administered. During the first period, 113 TEAEs were possibly/probably related to treatment in 30/52 patients (57.7%) receiving IVIg and 38 in 11 patients (22.9%) on placebo. Eight patients discontinued therapy due to IVIg-related TEAEs. Eight thromboembolic events (TEEs) occurred in six patients on IVIg; six in five patients were deemed possibly/probably related to IVIg. Patients with TEEs exhibited more baseline TEE risk factors than those without TEEs (2.4-15.2-fold higher). Lowering infusion rate reduced the rate of TEEs, and none occurred at the lower IVIg dose. No haemolytic transfusion reactions or deaths occurred. CONCLUSIONS: Results from this study demonstrate that IVIg has a favourable safety profile for treatment of adult dermatomyositis patients and provides evidence that will help to inform treatment choice for these patients. Dermatomyositis patients receiving high-dose IVIg should be monitored for TEEs, and a low rate of infusion should be used to minimise TEE risk, particularly in those with pre-existing risk factors. TRIAL REGISTRATION: ProDERM study (NCT02728752).


Assuntos
Dermatomiosite , Miosite , Adulto , Humanos , Imunoglobulinas Intravenosas/efeitos adversos , Dermatomiosite/tratamento farmacológico , Infusões Intravenosas , Miosite/induzido quimicamente , Método Duplo-Cego , Resultado do Tratamento
8.
Muscle Nerve ; 69(3): 334-339, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38197490

RESUMO

INTRODUCTION/AIMS: The performance of magnetic resonance imaging (MRI) for diagnosing suspected idiopathic inflammatory myopathy (IIM) remains controversial. Furthermore, the role of contrast-enhanced magnetic resonance imaging (CE-MRI) sequences is unclear. The aim of this study was to evaluate the sensitivity and specificity of a non-enhanced magnetic resonance imaging (NE-MRI) protocol compared to a CE-MRI protocol in adult patients with confirmed IIM. METHODS: This study retrospectively enrolled patients with suspected IIM who underwent MRI of the upper thigh between 2008 and 2020. The protocol consisted of a T1-weighted (T1w) sequence, a turbo inversion recovery magnitude (TIRM) sequence and a contrast-enhanced T1-weighted sequence (CE-T1w). After randomly stratifying patients into a group with only the T1w and TIRM sequences available and another group with additional availability of CE-T1w, three blinded readers assessed the presence of IIM based on characteristic imaging features. Confirmation of the diagnosis was determined based on the 2017 ACR/EULAR criteria. RESULTS: Of the 80 patients (mean age 49.0 ± 21.1 years; 42 female, 38 male) included, 54 (67.5%) had a positive diagnosis of IIM. Cumulated sensitivity and specificity for MRI to detect IIM was 87.1% and 83.3% in the NE-MRI group versus 87.0% and 63.0% in the CE-MRI group. The group differences for sensitivity and specificity were non-significant for each of the three readers, respectively (p ≥ .081). DISCUSSION: NE-MRI detects suspected IIM with high diagnostic accuracy and performs equivalently to CE-MRI. Therefore, it may be appropriate to omit the use of contrast agents in MRI scans performed for suspected IIM.


Assuntos
Imageamento por Ressonância Magnética , Miosite , Humanos , Adulto , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos , Imageamento por Ressonância Magnética/métodos , Miosite/diagnóstico por imagem , Sensibilidade e Especificidade , Coxa da Perna , Meios de Contraste
9.
Muscle Nerve ; 69(3): 368-372, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38205840

RESUMO

INTRODUCTION/AIMS: Myasthenia gravis (MG) is a rare, life-threatening immune-related adverse effect (irAE) of immune checkpoint inhibitor (ICI) treatment. C5-complement inhibitors are effective treatments for acetylcholine receptor antibody (AChR ab) positive generalized MG. We describe the use of eculizumab/ravulizumab in two patients with MG receiving concomitant pembrolizumab. METHODS: This was a retrospective review of two medical records. RESULTS: Patient 1: An 80-year-old male with recurrent, non-muscle invasive transitional cell carcinoma of the bladder developed ICI-induced AChR ab positive MG (ICI-MG), myositis, and myocarditis 2 weeks after the first dose of pembrolizumab. Myositis responded to corticosteroids. MG responded to eculizumab, followed by ravulizumab. He died of metastatic cancer 8 months later. Patient 2: A 58-year-old male had refractory thymoma-associated AChR ab-positive MG, which responded to eculizumab. He developed metastatic Merkel cell cancer necessitating pembrolizumab. MG remained stable on eculizumab. He had no irAEs for 22 months, with positron emission tomographic resolution of cancer. He then developed mild, indolent retinal vasculitis, which responded to prednisone. Discontinuation of pembrolizumab for 5 months resulted in cancer recurrence; pembrolizumab was resumed with peri-infusion pulse prednisone. MG remained stable and he continues eculizumab. DISCUSSION: In the first patient, eculizumab, followed by ravulizumab, improved ICI-MG. In the second patient, eculizumab treatment may have had a prophylactic effect on the development of ICI-induced irAEs. The effect of complement inhibition on cancer outcomes of ICI therapy is unknown. A possible biologic basis for complement inhibitors in reducing irAEs of ICI, especially in the presence of underlying autoimmune disease, merits evaluation.


Assuntos
Miastenia Gravis , Miosite , Humanos , Masculino , Idoso de 80 Anos ou mais , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Inativadores do Complemento/uso terapêutico , Recidiva Local de Neoplasia/complicações , Miastenia Gravis/induzido quimicamente , Miastenia Gravis/tratamento farmacológico , Miastenia Gravis/complicações , Miosite/complicações
10.
Lancet Rheumatol ; 6(2): e115-e127, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38267098

RESUMO

Idiopathic inflammatory myopathies are a group of autoimmune diseases with a broad spectrum of clinical presentations, primarily characterised by immune-mediated muscle injury. Until recently, there was little insight into the pathogenesis of idiopathic inflammatory myopathies, which challenged the recognition of the breadth of heterogeneity of this group of diseases as well as the development of new therapeutics. However, the landscape of idiopathic inflammatory myopathies is evolving. In the past decade, advances in diagnostic tools have facilitated an enhanced understanding of the underlying disease mechanisms in idiopathic inflammatory myopathies, enabling the expansion of therapeutic trials. The fields of transcriptomics, prot§eomics, and machine learning offer the potential to gain greater insights into the underlying pathophysiology of idiopathic inflammatory myopathies. Harnessing insights gained from these sophisticated tools could contribute to the identification of differences at a molecular level among patients, accelerating the development of targeted, tailored therapies. Bolstered by the validation and standardisation of robust outcome measures, many promising therapies are in clinical trial development. Although challenges remain, there is great optimism in the field due to the progress in innovative diagnostics, outcome measures, and therapeutic approaches. In this Review, we discuss the expanding landscape of idiopathic inflammatory myopathies as the frontier of precision medicine becomes imminent.


Assuntos
Doenças Autoimunes , Miosite , Humanos , Miosite/diagnóstico , Perfilação da Expressão Gênica , Aprendizado de Máquina , Otimismo
12.
Int J Rheum Dis ; 27(1): e15027, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38287555

RESUMO

Idiopathic inflammatory myopathies (IIM) are a group of highly heterogeneous systemic autoimmune diseases, of which clinically amyopathic dermatomyositis (CADM) is a distinct sub-type. Pulmonary hypertension (PH) is a life-threatening medical condition that can occur as a complication of connective tissue diseases. Herein, our report first suggests that PH can develop in CADM. A 48-year-old woman came to our hospital due to a 3 months history of facial edema and shortness of breath. Relevant examinations revealed Gottron's sign, normal creatinine kinase levels, elevated levels of mean pulmonary artery pressure, double-positive anti-MDA5 and anti-Ro52 antibodies, and typical pathological changes associated with myositis. The diagnosis of CADM combined with PH was considered. The patient responded well to the immunosuppression therapy and PH-related drug therapy. We provide further insights that patients with IIM need to undergo regular assessment of PH.


Assuntos
Doenças do Tecido Conjuntivo , Dermatomiosite , Hipertensão Pulmonar , Miosite , Feminino , Humanos , Pessoa de Meia-Idade , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/etiologia , Autoanticorpos , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Dermatomiosite/tratamento farmacológico , Doenças do Tecido Conjuntivo/complicações , Miosite/complicações
13.
RMD Open ; 10(1)2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38199847

RESUMO

OBJECTIVE: Gastrointestinal (GI) involvements were scarcely reported in adult anti-nuclear matrix protein 2 (NXP2) dermatomyositis (NXP2+DM). In this study, we investigated the clinical, pathological and molecular features as well as treatment options of this rare yet life-threatening disease. METHODS: We retrospectively collected the data of the cohort of NXP2+ DM from 2012 to 2022 in our hospital. RNA sequencing was performed in intestinal samples of perforated patients compared with healthy controls data set. RESULTS: A total of 56 patients with adult NXP2+DM were collected including 10 cases with GI involvements. Abdominal pain and melena were the initial manifestations for GI involvements with a median 10-month time lag after the diagnosis of NXP2+DM when myositis largely subsided. Within weeks, GI perforation occurred in 8 of 10 patients, while five patients underwent eight surgical interventions subsequently. The short-term mortality was observed in four patients. NXP2+DM with GI involvements presented with more extramuscular systemic manifestations such as interstitial lung disease and subcutaneous calcinosis. The GI pathological features encompassed vasculitis/vasculopathy with high MxA expression, intestinal smooth muscle necrosis and serosal calcinosis. Gene expression profile validated the type-I interferon activation and revealed that epithelial mesenchymal transition and focal adhesion pathway may also contribute. Finally, vedolizumab, an anti-α4ß7-integrin monoclonal antibody, exhibited promising therapeutic signals which should be further investigated. CONCLUSIONS: GI involvement is a unique complication in patients with adult NXP2+DM. Timely recognition and targeted therapy may turn out to be lifesaving.


Assuntos
Calcinose , Dermatomiosite , Interferon Tipo I , Miosite , Adulto , Humanos , Dermatomiosite/complicações , Dermatomiosite/diagnóstico , Estudos Retrospectivos
14.
Dermatologie (Heidelb) ; 75(2): 153-162, 2024 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-38194097

RESUMO

Dermatomyositis (DM) is a rare autoimmune disease with involvement of skin and muscle that is classified as an idiopathic inflammatory myopathy. In addition to cutaneous lesions as well as weakness and atrophy of muscles, the heart and lungs are the major affected organs. DM occurs in association with malignant tumors in 20% of affected adults. The pathogenesis of the disease is not completely understood. DM is a multifactorial disease influenced by genetic, environmental and immunological factors. The immune response is characterized by activation of innate and adaptive immune mechanisms and a strong activation of the type I interferon pathway. Myositis-specific antibodies are characteristic of DM and allow differential diagnosis. Therapies include corticosteroids, antimalarials, immunoglobulins, biologics such as rituximab or JAK inhibitors. Early diagnosis and treatment are essential for the prognosis.


Assuntos
Dermatomiosite , Miosite , Adulto , Humanos , Dermatomiosite/diagnóstico , Miosite/diagnóstico , Pele , Corticosteroides/uso terapêutico , Anticorpos
15.
BMJ Case Rep ; 17(1)2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-38262717

RESUMO

Idiopathic inflammatory myopathies are neuromuscular disorders characterised by muscle weakness and histologically inflammation within the muscle. Dermatomyositis and polymyositis are highly associated with a wide range of cancers, especially in antitranscriptional intermediary factor-1 (TIF1)-gamma-positive myositis. We present a case of paraneoplastic dermatomyositis in a patient with a medical history of a FIGO stage 1B1 cervical squamous cell carcinoma. Anti-TIF1-gamma autoantibodies were detected by myositis lineblot analysis and a PET-CT scan revealed an abnormality positioned at the right ovary. She underwent laparoscopic exploration and pathological analysis of the PET-positive abnormality showed a lymphogenic metastasis of a squamous cell carcinoma, competitive with cervical carcinoma recurrence. She started chemoradiation as curative oncological treatment. The dermatomyositis was successfully treated with high-dose corticosteroids. Physicians should be aware of the association between myositis and the increased risk of malignancies.


Assuntos
Carcinoma de Células Escamosas , Dermatomiosite , Miosite , Neoplasias do Colo do Útero , Feminino , Humanos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Autoanticorpos
16.
Medicine (Baltimore) ; 103(4): e37105, 2024 Jan 26.
Artigo em Inglês | MEDLINE | ID: mdl-38277547

RESUMO

The European League Against Rheumatism/American College of Rheumatology (EULAR/ACR) classification criteria for idiopathic inflammatory myopathies (IIM) have been widely used in recent times. However, no studies have focused on electromyography (EMG) findings of IIM, considering the criteria. This study aimed to elucidate the frequency of EMG abnormalities, particularly fibrillation potentials and positive sharp waves (Fib/PSW), the most objective EMG findings of IIM. Clinical and EMG records of adult patients who were clinically diagnosed with polymyositis (PM), dermatomyositis (DM), amyopathic DM (ADM), or inclusion body myositis (IBM) were retrospectively reviewed and classified according to the EULAR/ACR classification criteria. The frequency of Fib/PSW in EMG was investigated in the recruited cases. Seventy-nine patients with clinically diagnosed IIM (44 with PM, 17 with DM, 7 with ADM, and 11 with IBM) were recruited. After classification using EULAR/ACR, 75 satisfied definite or probable IIM (61 and 14, respectively), and the frequency of Fib/PSW in this group was 95%. Furthermore, the remaining 4 patients with insufficient IIM probability also showed Fib/PSW. Fib/PSW may also be seen in cases with insufficient IIM probability not satisfying the criteria. EMG may help detect muscle involvement in these cases through Fib/PSW.


Assuntos
Doenças do Colágeno , Dermatomiosite , Miosite de Corpos de Inclusão , Miosite , Doenças Reumáticas , Reumatologia , Adulto , Humanos , Estudos Retrospectivos , Miosite/diagnóstico , Dermatomiosite/diagnóstico , Miosite de Corpos de Inclusão/diagnóstico
17.
Clin Chim Acta ; 553: 117742, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38176522

RESUMO

The autoimmune inflammatory myopathy disease spectrum, commonly known as myositis, is a group of systemic diseases that mainly affect the muscles, skin and lungs. Biomarker assessment helps in understanding disease mechanisms, allowing for the implementation of precise strategies in the classification, diagnosis, and management of these diseases. This review examines the pathogenic mechanisms and highlights current data on blood and tissue biomarkers of autoimmune inflammatory myopathies.


Assuntos
Doenças Autoimunes , Miosite , Humanos , Miosite/diagnóstico , Doenças Autoimunes/diagnóstico , Biomarcadores , Autoanticorpos
18.
Pediatr Rheumatol Online J ; 22(1): 13, 2024 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-38212775

RESUMO

INTRODUCTION: Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. We performed a retrospective, longitudinal and descriptive study of Afro-Caribbean patients from the French West Indies followed for MCTD and OAS to describe their characteristics and outcomes during childhood. METHODS: Retrospective study from January 2000 to 2023. Listings of patients were obtained from multiple sources: computerized hospital archives and national hospital-based surveillance system, registry of pediatricians and adult specialists in internal medicine and the national registry for rare diseases. MCTD was defined according to Kasukawa's criteria. OAS was defined as overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and dermatomyositis/autoimmune myositis (DM/AM). RESULTS: Sixteen patients were included over a 23-year period (10 MCTD and 6 OAS). The incidence was 0.23 per 100,000 children-years. The mean age at diagnosis was 11.9 years old (2.4-17) with median follow up of 7.9 years (2.1-19.6). SLE phenotype was present in the highest, followed by SSc and DM/AM. Patients had an average of three flares during childhood (1-7). A quarter (25%) had symptomatic pulmonary arterial hypertension (PAH). Ninety-four percent received steroids during follow-up and 88% required a corticosteroid-sparing therapy. Three patients (19%) developed SLE after more than 10y of follow-up. There were no death and no chronic organ failure. CONCLUSION: This is the largest pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care. The clinical evolution did not differ between MCTD and OAS. The main complication was PAH, more frequent in our cohort.


Assuntos
Doenças Autoimunes , Doenças do Tecido Conjuntivo , Lúpus Eritematoso Sistêmico , Doença Mista do Tecido Conjuntivo , Miosite , Escleroderma Sistêmico , Adulto , Humanos , Criança , Doença Mista do Tecido Conjuntivo/epidemiologia , Estudos Retrospectivos , Seguimentos , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/complicações , Doenças do Tecido Conjuntivo/epidemiologia , Escleroderma Sistêmico/epidemiologia , Escleroderma Sistêmico/complicações , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/diagnóstico , Síndrome , Miosite/complicações
19.
Acta Neuropathol ; 147(1): 15, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38214778

RESUMO

Histopathological analysis stands as the gold standard for the identification and differentiation of inflammatory neuromuscular diseases. These disorders continue to constitute a diagnostic challenge due to their clinical heterogeneity, rarity and overlapping features. To establish standardized protocols for the diagnosis of inflammatory neuromuscular diseases, the development of cost-effective and widely applicable tools is crucial, especially in settings constrained by limited resources. The focus of this review is to emphasize the diagnostic value of major histocompatibility complex (MHC) and complement patterns in the immunohistochemical analysis of these diseases. We explore the immunological background of MHC and complement signatures that characterize inflammatory features, with a specific focus on idiopathic inflammatory myopathies. With this approach, we aim to provide a diagnostic algorithm that may improve and simplify the diagnostic workup based on a limited panel of stainings. Our approach acknowledges the current limitations in the field of inflammatory neuromuscular diseases, particularly the scarcity of large-scale, prospective studies that validate the diagnostic potential of these markers. Further efforts are needed to establish a consensus on the diagnostic protocol to effectively distinguish these diseases.


Assuntos
Miosite , Doenças Neuromusculares , Humanos , Estudos Prospectivos , Doenças Neuromusculares/diagnóstico , Complexo Principal de Histocompatibilidade , Antígenos de Histocompatibilidade Classe I/análise
20.
BMJ Case Rep ; 17(1)2024 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-38233006

RESUMO

We describe a case of a previously healthy unvaccinated man in his 70s who developed penicillin-susceptible bacteraemic invasive pneumococcal disease due to non-vaccine serotype 23B with the unusual manifestations of multifocal myositis, intramuscular abscesses, polyarticular septic arthritis and synovitis. Blood cultures drawn prior to antibiotic therapy and culture of iliopsoas collection were helpful in making the diagnosis. At follow-up, he had persistent hip pain attributed to avascular necrosis of the head of femur, a possible late complication of his pyomyositis.


Assuntos
Abscesso Abdominal , Artrite Infecciosa , Miosite , Doenças Peritoneais , Infecções Pneumocócicas , Masculino , Humanos , Sorogrupo , Abscesso/complicações , Infecções Pneumocócicas/complicações , Infecções Pneumocócicas/diagnóstico , Infecções Pneumocócicas/tratamento farmacológico , Miosite/diagnóstico , Miosite/tratamento farmacológico , Miosite/complicações , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/tratamento farmacológico , Artrite Infecciosa/etiologia , Abscesso Abdominal/complicações , Doenças Peritoneais/complicações , Vacinas Pneumocócicas
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