A doença mista do tecido conjuntivo (DMTC) é uma doença autoimune rara caracterizada por características comumente observadas em três doenças diferentes do tecido conjuntivo: lúpus eritematoso sistêmico, esclerodermia e polimiosite. Algumas pessoas afetadas também podem apresentar sintomas de artrite reumatóide. Embora a DMTC possa afetar pessoas de todas as idades, parece ser mais comum em mulheres com menos de 30 anos. Os sinais e sintomas variam, mas podem incluir o fenómeno de Raynaud; artrite; anomalias cardíacas, pulmonares e cutâneas; doença renal; fraqueza muscular e disfunção do esôfago. A causa do MCTD é atualmente desconhecida. Não há cura, mas certos medicamentos, como antiinflamatórios não esteróides (AINEs), corticosteróides e medicamentos imunossupressores, podem ajudar a controlar os sintomas.
Introdução
O que você precisa saber de cara
A doença mista do tecido conjuntivo (DMTC) é uma doença autoimune rara caracterizada por características comumente observadas em três doenças diferentes do tecido conjuntivo: lúpus eritematoso sistêmico, esclerodermia e polimiosite. Algumas pessoas afetadas também podem apresentar sintomas de artrite reumatóide. Embora a DMTC possa afetar pessoas de todas as idades, parece ser mais comum em mulheres com menos de 30 anos. Os sinais e sintomas variam, mas podem incluir o fenómeno de Raynaud; artrite; anomalias cardíacas, pulmonares e cutâneas; doença renal; fraqueza muscular e disfunção do esôfago. A causa do MCTD é atualmente desconhecida. Não há cura, mas certos medicamentos, como antiinflamatórios não esteróides (AINEs), corticosteróides e medicamentos imunossupressores, podem ajudar a controlar os sintomas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 68 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 680
Spatial transcriptomics reveals mechanism of autoimmunity driven by internalized autoantibodies.
Autoantibody internalization has been implicated in autoimmune disease pathogenesis, yet its mechanisms, and generality across different diseases, cell types, and affected tissues remain poorly defined. Using bulk RNA sequencing, we identified reproducible, autoantibody-specific transcriptomic signatures consistent with autoantigen dysfunction in muscle biopsies from patients with anti-Mi2 dermatomyositis and anti-PM/Scl scleromyositis across independent cohorts. Electroporation of purified patient IgG into primary cultures of healthy cells was sufficient to induce the corresponding transcriptomic programs in vitro. Direct immunofluorescence demonstrated immunoglobulin internalization into subcellular compartments matching the localization of the autoantigen in different affected tissues. Spatial transcriptomic analyses revealed that antibody-secreting cells translocated cytoplasmic material (i.e., immunoglobulin RNA) into adjacent affected cells expressing autoantibody-specific transcripts. The disease-specific transcripts were present not only in muscle fibers, but also in other cells, including macrophages, endothelial cells, and fibroblasts. Autoantibody-induced transcriptomic programs were associated with cell damage and autoantibody-specific reactive inflammatory programs, including activation of type I interferon and TGF-ß1 signaling in anti-Mi2 dermatomyositis and activation of type II interferon in anti-PM/Scl scleromyositis. Antibody internalization was also observed in different tissues from patients with other autoimmune diseases, including anti-U1RNP mixed connective tissue disease, anti-Ku overlap syndrome, and anti-Scl70 systemic sclerosis. Together, these findings establish autoantibody internalization as a shared pathogenic mechanism across diverse autoimmune diseases, providing a unifying framework for conditions driven by autoantibodies against intracellular antigens.
Autoimmune-related dysphonia: vocal fold bamboo nodes.
Bamboo nodes are rare and often-overlooked autoimmune lesions, arising from the upper surface of the vocal folds, with a transversal band-like appearance. To date, only few cases of such conditions have been described, but their actual prevalence is likely to be underestimated, since bamboo nodes may be mistaken for common vocal fold nodules. We herein describe the case of a female patient with mixed connective tissue disease, presenting with bamboo nodes, who responded to a multimodal treatment, including systemic immunosuppressants, vocal fold corticosteroid injection and speech therapy. A 43-year-old woman with mixed connective tissue developed progressive dysphonia. The first-line ENT evaluation showed bilateral nodular thickening of the vocal folds. The patient responded only slightly to speech therapy, so she was submitted to a second-level phoniatric evaluation, unveiling bamboo nodes. After a multidisciplinary discussion between the Phoniatric and Rheumatologic teams, the chosen therapeutic approach was adding a bilateral vocal fold corticosteroid injection to the baseline immunosuppressant therapy, followed by another course of ten speech therapy sessions. Two months after treatment, a significant reduction of bamboo nodes was found, along with an improvement in acoustic voice parameters. Such results remained stable over a five-month follow-up. To develop evidence-based approaches to vocal fold autoimmune lesions, a greater awareness regarding such conditions is advocated, also allowing for the accumulation of larger series.
Trends and outcomes of lung transplant listings for connective tissue disease-associated interstitial lung disease (CTD-ILD): A 20-Year analysis from the organ procurement and transplantation network database.
Lung transplantation represents a potential life-extending therapy for patients with advanced CTD-ILD. This study aims to characterize lung transplant listing outcomes among CTD-ILD patients over a 20-year period using the Organ Procurement and Transplantation Network (OPTN) national database. Data analyzed from the OPTN between 2003-2023 included adults ≥18 years of age with CTD-ILD listed for lung transplantation. Patients were categorized into six diagnoses: scleroderma, lupus, rheumatoid arthritis (RA), myositis, Sjögren's, and "Other" (including mixed connective tissue disease, CTD, etc.). Disease and patient specific data were obtained. Trends in listing and outcomes were analyzed in four time periods across the 20 years and among various diagnoses. We used descriptive summary statistics to characterize the sample, and univariate and multivariable logistic regression models to identify factors associated with undergoing lung transplantation. A total of 1977 CTD-ILD patients were listed. Scleroderma constituted the majority (47%). Listings increased fourfold (185 to 744) from the first to last time periods. Listings for all diagnoses increased with time, with rising representation of non-White patients. Trend noted towards listing patients with more advanced lung disease with time. Transplant rates rose, while wait times, and waitlist mortality declined overtime. All diseases received transplants at comparable rates. Older age, lower lung allocation scores, and male sex were associated with higher odds of transplantation, female sex with lower odds. Over two decades, CTD-ILD transplant listings have increased in volume, matched with substantially improved outcomes. This reflects the evolution of listing practices and a growing confidence in lung transplantation as a viable option for CTD-ILD.
Chronic Limb-Threatening Ischemia Owing to Popliteal Artery Aneurysms With Repeated Occlusion After Stent Graft Placement That was Successfully Treated With Supera Stent Reinforcement: A Case Report.
Popliteal artery aneurysms (PAAs) can cause serious symptoms and are difficult to treat. Endovascular PAA repair (EPAR) using stent grafts (SGs) has demonstrated favorable clinical outcomes for treating PAAs. However, tortuous arteries and huge PAAs may result in distortion of SGs, which may cause re-occlusion of the revascularized vessels. This report describes the successful use of EPAR to treat PAA and the use of lining Supera stents to deal with bent SGs. A 55-year-old woman with mixed connective tissue disease, antiphospholipid antibody syndrome, and chronic deep venous thrombosis presented with an ulcer on the right toe. Computed tomography revealed bilateral PAAs and occlusion from the right popliteal artery to all below-the-knee (BTK) arteries. EPAR was performed and two SGs were deployed for the PAAs. The BTK occlusion was treated using intravascular ultrasound-guided wiring. However, the SGs occluded within 2 weeks. A massive thrombus was aspirated using the Indigo system (CAT8; Asahi Intecc Co. Aichi, Japan), and catheter-directed thrombolysis was initiated owing to the large size of the thrombus. However, the SGs became occluded within 2 days. Aspiration was performed, and the Supera stent was deployed at the distal edge of the restenosis. The BTK runoff was recanalized, and catheter-directed thrombolysis was continued. However, the BTK runoff occluded the following day. Aspiration was performed, and the Eluvia stent was deployed at the proximal edge of the restenosis. The BTK runoff was recanalized and stayed open. An additional treatment was conducted 2 months later using an inline Supera stent to straighten the bent Viabahn SG and ensure the BTK flow. The ulcer fully healed after this procedure. Using the Supera stent to line and straighten the SG to obtain enhanced blood flow may facilitate improved management following EPAR of PAA.
Ruptured Sinus of Valsalva Aneurysm in a Patient With Mixed Connective Tissue Disease: Case Report.
Sinus of Valsalva aneurysm is a rare cardiac anomaly, affecting approximately 0.09 % of the population. Its rupture represents a life-threatening event that can rapidly lead to heart failure. We report a 32-year-old woman with mixed connective tissue disease presenting with right-sided heart failure. Echocardiography demonstrated a ruptured right coronary cusp sinus of valsalva aneurysm into the right ventricle with moderate aortic regurgitation. Surgical repair was successfully performed, and histopathology supported an autoimmune-mediated etiology. To our knowledge, this is the first reported case of ruptured sinus of valsalva aneurysm occurring in a patient with autoimmune mixed connective tissue disease.
Publicações recentes
Overlap Syndrome of Ankylosing Spondylitis and Mixed Connective Tissue Disease in a Male Patient.
Synchronous Intra-ampullary Papillary-Tubular Neoplasm and Gallbladder Cancer.
Romosozumab-Associated Recurrent Erythema Nodosum in Mixed Connective Tissue Disease.
Clinical Associations of Anti-RNPC3 Autoantibodies in Mixed Connective Tissue Disease.
Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.
📚 EuropePMC1.154 artigos no totalmostrando 196
Autoimmune-related dysphonia: vocal fold bamboo nodes.
American journal of otolaryngologyTrends and outcomes of lung transplant listings for connective tissue disease-associated interstitial lung disease (CTD-ILD): A 20-Year analysis from the organ procurement and transplantation network database.
Seminars in arthritis and rheumatismChronic Limb-Threatening Ischemia Owing to Popliteal Artery Aneurysms With Repeated Occlusion After Stent Graft Placement That was Successfully Treated With Supera Stent Reinforcement: A Case Report.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsRuptured Sinus of Valsalva Aneurysm in a Patient With Mixed Connective Tissue Disease: Case Report.
Journal of the Saudi Heart AssociationSpatial transcriptomics reveals mechanism of autoimmunity driven by internalized autoantibodies.
medRxiv : the preprint server for health sciencesA Case of Antibody-Mediated Recurrent Hypoglycemia in a Patient With Mixed Connective Tissue Disease.
CureusReduced retinal microvascular density in patients with mixed connective tissue disease: an exploratory pilot study on the interplay between aging, renal function, and complement system.
Frontiers in immunologyAssociation between autoantibodies and interstitial lung disease in autoimmune disease patients: a retrospective study.
Clinical and experimental rheumatologyCan Baseline Features Predict Progression to Defined CTD? Insights from a Minimum 5-Year Follow-Up Study of 504 Patients with UCTD.
Modern rheumatologyEarly detection and risk stratification in autoimmune-related interstitial lung disease: a state-of-the-art review.
Respiratory researchDiagnostic perspectives on mixed connective tissue disease with tuberculosis overlap.
World journal of clinical casesConnective Tissue Disease-Associated Pulmonary Arterial Hypertension: Current Therapeutic Strategies and Future Prospects.
BiomoleculesAcute Hypoxemic Respiratory Failure Caused by Nonspecific Interstitial Pneumonia in Mixed Connective Tissue Disease: A Case Report.
CureusPost-COVID-19 Inflammatory Myopathy With Dermatomyositis-Mixed Connective Tissue Disease (MCTD) Overlap Features and Epiglottitis: A Case Report.
CureusThe added value of cardiac MRI in paediatric rheumatologic disorders: a preliminary single-centre experience.
Cardiology in the youngAssociation between COVID-19 and New-Onset Autoimmune Diseases: Updated Systematic Review and Meta-Analysis of 97 Million Individuals.
Clinical reviews in allergy & immunologyJuvenile-onset mixed connective tissue disease: A multicenter retrospective cohort study.
Seminars in arthritis and rheumatismTrigeminal neuropathy as the first symptom of mixed connective tissue disease: case report and literature review.
Quintessence international (Berlin, Germany : 1985)[POEMS syndrome misdiagnosed as systemic sclerosis: A case report].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesCaNO and eCO Might Be Potential Non-Invasive Biomarkers for Disease Severity and Exacerbations in Interstitial Lung Disease.
Journal of clinical medicineMixed connective tissue disease and tuberculosis coexistence as a diagnostic dilemma: A case report.
World journal of clinical casesTranscriptome analysis unveils Th1 cell cycle signature as a distinctive feature of mixed connective tissue disease.
Arthritis research & therapyPrevalence, Severity, and Pattern of Pulmonary Arterial Hypertension and Interstitial Lung Disease in Patients with Connective Tissue Disease.
Current rheumatology reviewsAnti-survival of motor neuron antibodies in rheumatic and musculoskeletal diseases: prevalence, clinical associations, and biomarker potential, with novel insights into disease activity in SLE.
Inflammation and regenerationMendelian randomization study of the causal relationship between autoimmune diseases and anemia using proteomic and genetic data.
Journal of translational autoimmunityPulmonary thromboembolism as an atypical manifestation of mixed connective tissue disease in a young man: A case report.
The Journal of international medical researchClinical Spectrum and One-Year Outcomes of Central Nervous System Vasculitis Secondary to Systemic Autoimmune Disorders: A Retrospective Cohort Study.
CureusMixed connective tissue disease presenting with recurrent rhabdomyolysis.
BMJ case reportsReproductive health knowledge and preferences in adolescent rheumatology patients: a convergent mixed methods study.
Pediatric rheumatology online journalDilemmas in the Management of Digital Ulcers in Systemic Sclerosis-Mixed Connective Tissue Disease: Lessons From a Case Report.
CureusLong-Term Safety of Anti-COVID-19 mRNA Vaccines in Patients with Systemic Lupus Erythematosus and Lupus-like Diseases with a Previous History of Myocarditis.
MicroorganismsUnravelling IPAF, VEDOSS and connective tissue diseases classifications through the mixed connective tissue disease spectrum.
RMD openImmunosuppressive Therapy for Pulmonary Arterial Hypertension Associated with Connective Tissue Diseases: Insights from Japanese Registry.
Advances in therapyValidation of the 2019 EULAR/ACR classification criteria and clinical characteristics of childhood-onset Japanese patients with systemic lupus erythematosus.
Modern rheumatologySeroconversion of SSA and the Development of Inflammatory Myositis in a Patient With Chronic Joint Pain: A Potential Overlap Connective Tissue Disease.
CureusRisk of Autoimmune Rheumatic Diseases following COVID-19: A Systematic Review and Meta-Analysis.
Current rheumatology reviewsAnti-AHNAK1 Antibodies Are a Novel Diagnostic Biomarker for Systemic Lupus Erythematosus.
BioMed research internationalOverlap syndrome of anti-aquaporin-4 positive neuromyelitis optica spectrum disorder and mixed connective tissue disease: a case report.
Frontiers in immunologyRecognition of Vertebral Artery Dissection in a High-Risk Postpartum Patient by a Chiropractic Physician.
CureusPrevalence of vasculitis, systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, idiopathic inflammatory myopathies and spondyloarthritis in Australia: a systematic review and meta-analysis.
Internal medicine journalHigh-Resolution CT Findings in Interstitial Lung Disease Associated with Connective Tissue Diseases: Differentiating Patterns for Clinical Practice-A Systematic Review with Meta-Analysis.
Journal of clinical medicineCancer Risk in Autoimmune and Immune-Mediated Diseases: A Narrative Review for Practising Clinicians.
Journal of clinical medicineImpact of hand function impairment on daily life of patients with systemic sclerosis: a qualitative study.
Rheumatology (Oxford, England)ERS/EULAR clinical practice guidelines for connective tissue disease-associated interstitial lung disease developed by the task force for connective tissue disease-associated interstitial lung disease of the European Respiratory Society (ERS) and the European Alliance of Associations for Rheumatology (EULAR) Endorsed by the European Reference Network on rare respiratory diseases (ERN-LUNG).
Annals of the rheumatic diseasesERS/EULAR clinical practice guidelines for connective tissue disease-associated interstitial lung disease.
The European respiratory journalRituximab treatment for connective tissue diseases associated-pulmonary hypertension: a systematic literature review.
Expert review of respiratory medicineA comparative analysis of cardiopulmonary features in patients with systemic sclerosis and mixed connective tissue disease: results from SOPHIE registry.
Frontiers in medicineSevere Warm Autoimmune Hemolytic Anemia With Anti-PO Antibody Positivity: A Diagnostic Dilemma in a Resource-Limited Setting.
CureusThe Art of Interpreting Antinuclear Antibodies (ANAs) in Everyday Practice.
Journal of clinical medicineThe incidence and mortality of connective tissue diseases: a population-level cohort study in England from 2012 to 2023.
Rheumatology (Oxford, England)Bloodstream infection caused by Erysipelothrix rhusiopathiae serotype 6: Case report and literature review.
IDCasesUnveiling the genetic pleiotropy between anxiety disorders and autoimmune diseases: insights from large-scale genome-wide cross-trait analysis.
Journal of affective disordersSpontaneous Hemo-Mediastinum Following Laparoscopic Appendectomy: A Case Report.
The American journal of case reportsAdvancing MSC therapy: The next generation of potent mesenchymal stromal cells for systemic autoimmune rheumatic diseases.
Best practice & research. Clinical haematologyAcute abdomen with intraperitoneal free gas: a diagnostic pitfall of pneumatosis cystoides intestinalis-a case report.
Frontiers in medicineInsights into Pulmonary Arterial Hypertension in Connective Tissue Diseases.
Journal of clinical medicineRefractory Acrodermatitis Continua of Hallopeau in a Pediatric Patient: Unveiling Underlying Mixed Connective Tissue Disorder.
The Journal of clinical and aesthetic dermatologyAntibody Profile of Systemic Sclerosis and Mixed Connective Tissue Disease and Its Relationship with Lung Fibrosis and Pulmonary Hypertension.
International journal of molecular sciencesAutoimmune diseases and diffuse large B-cell lymphoma: A Mendelian randomization study.
MedicineSuccessful Management of a Lung Transplant Patient With an Anaphylactic Reaction to Methylprednisolone Sodium Succinate: A Case Report.
Transplantation proceedings33-year-old woman with mixed connective tissue disease and rapid onset breathlessness.
ThoraxEfficacy of rituximab versus cyclophosphamide in connective tissue disease‑related interstitial lung disease: a systematic review and meta-analysis.
Clinical rheumatologyA case of myositis associated with mixed connective tissue disease mimicking bilateral posterior interosseous nerve palsy.
Ideggyogyaszati szemleCancer in connective tissue disease.
Frontiers in immunologyThe Nuances of Shared Autoimmunity and the Singularity of Mixed Connective Tissue Disease.
The Journal of rheumatologyBalancing justice, beneficence, and autonomy in diagnostic workup of suspected mixed connective tissue disease.
Journal of the American Academy of DermatologyLong-Term Prospective Observation Study of Patients with Pulmonary Arterial Hypertension Associated with Connective Tissue Diseases.
KardiologiiaAcute Bowel Perforation Post-Bowel Preparation in a Patient with Connective Tissue Disease.
European journal of case reports in internal medicineTreatment of mixed connective tissue disease: A multicenter retrospective study.
Journal of autoimmunityBronchiolar disorders in systemic autoimmune rheumatic diseases.
European respiratory review : an official journal of the European Respiratory SocietyShared and distinct peripheral blood immune cell landscape in MCTD, SLE, and pSS.
Cell & biosciencePrognostic insights from symptom clustering analysis in systemic lupus erythematosus.
RMD openA case of mixed connective tissue disease with usual interstitial pneumonia and methotrexate-induced erythema multiforme.
Annals of the New York Academy of SciencesMacrophage Activation Syndrome as an Atypical Manifestation of Mixed Connective Tissue Disease in a 14-Year-Old Girl: A Case Report.
CureusPrevalence, molecular mechanisms and diagnostic approaches to pulmonary arterial hypertension in connective tissue diseases.
Rheumatology internationalIgE autoantibodies to nuclear antigens in patients with different connective tissue diseases: re-evaluation and novel findings.
Frontiers in immunologyHearing Loss in Connective Tissue Diseases: A Systematic Review.
European journal of rheumatologyShort telomere syndrome in a patient with primary Sjögren's syndrome related interstitial lung disease.
The American journal of the medical sciences[Target organ connective tissue: the variability of systemic fibrosis].
Innere Medizin (Heidelberg, Germany)Connective tissue disease-associated interstitial lung disease: an approach to treatment amidst an expanding evidence base.
Internal medicine journalThe Frequency of Non-Scarring Alopecia in Autoimmune Connective Tissue Diseases.
Journal of drugs in dermatology : JDDIs mixed connective tissue disease (MCTD) a subtype of systemic sclerosis?
Seminars in arthritis and rheumatismPregnancy-Induced Hypertension and Association With Future Autoimmune Diseases.
Obstetrics and gynecologyThe Role of Nailfold Videocapillaroscopy in the Diagnosis and Monitoring of Interstitial Lung Disease Associated with Rheumatic Autoimmune Diseases.
Diagnostics (Basel, Switzerland)Clinicopathological Features of Mixed Connective Tissue Disease-Related Myositis: A Case Series.
Muscle & nerveSystemic Inflammatory Diseases in Children With Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues.
Pediatric blood & cancerAQP4 antibody-seropositive neuromyelitis optica spectrum disorder in a patient with mixed connective tissue disease: a case report.
AME case reportsDiagnosis of arginine vasopressin deficiency in a patient with 10 years of polyuria and polydipsia following an Epstein-Barr virus infection.
BMJ case reportsExploring the Genetic Association Between Connective Tissue Diseases and the Risk of Pulmonary Arterial Hypertension: A Mendelian Randomization Analysis.
Pulmonary circulationNailfold videocapillaroscopy findings and associations with organ involvement in mixed connective tissue disease.
Clinical and experimental rheumatologyA Practical Multidisciplinary Approach to Identifying Interstitial Lung Disease in Systemic Autoimmune Rheumatic Diseases: A Clinician's Narrative Review.
Diagnostics (Basel, Switzerland)Mixed and undifferentiated autoimmune connective tissue diseases.
Clinics in dermatologyPregnancy with mixed connective tissue disease: Exploration of factors influencing live birth outcomes.
PloS oneHigh prevalence and incidence of systemic sclerosis in Reunion Island, a French multi-ethnical and tropical territory.
Seminars in arthritis and rheumatismAutoimmune screening panel in patients with multiple sclerosis: A Vienna multiple sclerosis database study.
European journal of neurologyMay-Hegglin anomaly associated nephropathy: Case series.
SAGE open medical case reportsHigh prevalence of esophageal motility disorders in patients with rheumatologic diseases.
Diseases of the esophagus : official journal of the International Society for Diseases of the EsophagusEn Coup de Sabre and Terry's Nail: Rare Cutaneous Manifestations of Mixed Connective Tissue Disease.
The American journal of medicineMixed connective tissue disease: A case of aggressive progression and multisystem involvement.
Radiology case reportsAtypical Combination of Mixed Connective Tissue Disease and Multicentric Castleman Disease.
CureusNot Just Myocarditis: Mixed Connective Tissue Disease (MCTD) and Overlap Myositis With Anti-Ku Positivity in a Young Male With Shortness of Breath.
CureusAGA Clinical Practice Update on Esophageal Dysfunction Due to Disordered Immunity and Infection: Expert Review.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationCase report of a concomitant seronegative immune-mediated necrotizing myopathy with mixed connective tissue disease.
International journal of rheumatic diseasesA Real-World Study on Adverse Reactions of Belimumab Based on the FDA Adverse Event Reporting System Database.
Pharmacoepidemiology and drug safetyCentral retinal artery occlusion as the initial manifestation of mixed connective tissue disease in a young woman: a case report.
BMC ophthalmologyAdmitted With Epistaxis, Discharged on Immunosuppressants! - An Unusual Presentation of Mixed Connective Tissue Disease.
Journal of community hospital internal medicine perspectivesThe intersection of dermatology and immunology: Cutaneous manifestations, autoantibodies and quality of life in connective tissue diseases.
The Medical journal of MalaysiaDetection and differentiation of antinuclear antibodies in serum of dengue suspected patients with or without systemic autoimmune disease in Kolkata, India.
VirulenceAssociation of Combined Autoreactivity to Sm/RNP Common Motif and U1 RNP With Mixed Connective Tissue Disease and Systemic Lupus Erythematosus.
ACR open rheumatologyDouble-negative T cells in pediatric rheumatic diseases.
Clinical and experimental pediatricsPredictors of myositis in mixed connective tissue disease: A multicentre retrospective study.
ARP rheumatologyScreening, diagnosis, and monitoring of interstitial lung disease in autoimmune rheumatic diseases: A narrative review.
Revista colombiana de reumatologiaA Comparison of Nailfold Video Capillaroscopy Findings in Mixed Connective Tissue Disease Interstitial Lung Disease vs Systemic Sclerosis Interstitial Lung Disease: A Single-Centre Study.
Mediterranean journal of rheumatologyPrimary biliary cholangitis has causal effects on systemic rheumatic diseases: a Mendelian randomization study.
BMC gastroenterologyJuvenile-onset mixed connective tissue disease from a different perspective.
International journal of rheumatic diseasesA Case Report on Iatrogenic Methotrexate Toxicity.
CureusDelayed diagnosis of TAFRO syndrome: A case report.
MedicineDeciphering the Reactivity of Autoantibodies Directed against the RNP-A, -C and 70 kDa Components of the U1-snRNP Complex: "Double or Nothing"?
BiomedicinesInsights into the cellular basis of skin inflammation in systemic autoimmune rheumatic diseases from single-cell technologies.
Clinical and experimental rheumatologyCapillaroscopy in the daily clinic of the pediatric rheumatologist.
Best practice & research. Clinical rheumatologyThe usefulness of nailfold capillaroscopy in scleroderma-spectrum disorders: a single-centre observational study.
Postepy dermatologii i alergologiiReactivation of herpes simplex virus 2 presenting as recurrent acute retinal necrosis following COVID-19 vaccination.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious DiseasesDistinct groups of autoantigens as drivers of ocular adnexal MALT lymphoma pathogenesis.
Life science allianceAssessing Patient Values and Preferences to Inform the 2023 American College of Rheumatology/American College of Chest Physicians Interstitial Lung Disease Guidelines.
Arthritis care & research2023 American College of Rheumatology (ACR)/American College of Chest Physicians (CHEST) Guideline for the Screening and Monitoring of Interstitial Lung Disease in People with Systemic Autoimmune Rheumatic Diseases.
Arthritis care & researchExploring clinical features and therapeutic outcomes in Indian children with mixed connective tissue disease: A multicenter study.
International journal of rheumatic diseasesAutoimmunity in Type 2 Diabetes: When the Only Effective Therapy Becomes Immunosuppressive.
Endocrine, metabolic & immune disorders drug targetsUnraveling Complexity: A Case of Possible Overlapping Between Mixed Connective Tissue Disease and Systemic Lupus Erythematosus With Renal Involvement.
CureusBevacizumab-induced immune thrombocytopenia in an ovarian cancer patient with mixed connective tissue disease: case report and literature review.
Frontiers in immunologyUse of Tocilizumab to Treat Arthritis Associated with Mixed Connective Tissue Disease Complicated by Ovarian Teratoma: A Case Report.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiA Case of Overlapping Autoimmune Syndrome.
CureusAntinuclear antibody (ANA) positivity pattern by line immunoassay in a hospital from eastern India: Update from a laboratory perspective.
Journal of family medicine and primary careCOVID-19 and autoimmune rheumatic disease: behavioural changes adopted by patients amid the pandemic.
Internal medicine journalInterstitial Lung Disease in Patients with Mixed Connective Tissue Disease: A Retrospective Study.
International journal of general medicineImproving Pneumococcal Vaccination Rates in Immunosuppressed Pediatric Patients with Rheumatic Disease.
Pediatric quality & safetyThe Kaleidoscope of Polyautoimmunity: An Odyssey of Diagnostic Dilemmas.
CureusDisseminated Histoplasmosis Presenting with Panniculitis and Macrophage Activation Syndrome in a Patient Undergoing Immunosuppressive Therapy for Mixed Connective Tissue Disease (MCTD).
Internal medicine (Tokyo, Japan)Heterogeneity of right ventricular echocardiographic parameters in systemic lupus erythematosus among four clinical subgroups, as stratified by clinical organ involvement in observational cohort.
Open heartMixed Connective Tissue Disease (MCTD) in a Girl with Lower Extremities Edema: A Brief Report.
Current rheumatology reviews[Interstitial Lung Disease associated with Connective Tissue Diseases].
Therapeutische Umschau. Revue therapeutiqueFractional exhaled nitric oxide in idiopathic pulmonary arterial hypertension and mixed connective tissue disease complicating pulmonary hypertension.
BMC pulmonary medicineAnti-U1RNP antibodies are associated with a distinct clinical phenotype and a worse survival in patients with systemic sclerosis.
Journal of autoimmunityEvolution of diagnostic criteria and new insights into clinical testing in mixed connective tissue disease; anti-survival motor neuron complex antibody as a novel marker of severity of the disease.
Immunological medicineIncidence and disease burden of autoimmune inflammatory rheumatic diseases after non-pharmaceutical interventions in the COVID-19 era: A nationwide observational study in Korea.
International journal of rheumatic diseasesHeadache and cerebral venous sinus thrombosis as a first presentation of mixed connective tissue disease: a rare case and literature review.
Acta neurologica Belgica[Mixed connective tissue disease and its management].
Revue medicale suisseTo Test or Not to Test: A Case Report on Hereditary Hemorrhagic Telangiectasia.
CureusMixed Connective Tissue Disease Presenting With Psychosis-A Case Report.
The Journal of nervous and mental diseaseSaliva Production and Esophageal Motility Influence Esophageal Acid Clearance Related to Post-reflux Swallow-Induced Peristaltic Wave.
Digestive diseases and sciencesNaifold capillaroscopy in mixed connective tissue disease patients.
Clinical rheumatologyPulmonary Hypertension in Connective Tissue Diseases Other than Systemic Sclerosis.
Seminars in respiratory and critical care medicineMachine learning-driven immunophenotypic stratification of mixed connective tissue disease, corroborating the clinical heterogeneity.
Rheumatology (Oxford, England)Macitentan in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease (CTD-PAH): Real-World Evidence from the Combined OPUS/OrPHeUS Dataset.
Cardiology and therapyEthnicity also influences the clinical heterogeneity of mixed connective tissue disease of childhood onset: The French West Indies experience.
Autoimmunity reviewsNailfold capillaroscopy abnormalities and pulmonary hypertension in mixed connective tissue disease and systemic sclerosis patients.
European review for medical and pharmacological sciencesSystemic Connective Tissue Disease and Neuromyelitis Optica Spectrum Disorder Coexistence: A Systematic Review and Meta-Analysis.
Journal of integrative neuroscienceNeonatal lupus erythematosus as a rare trigger of gastrointestinal involvement in neonates.
Scientific reportsMixed Connective Tissue Disease: The Two Cases Representing the Range of this Illness.
Current rheumatology reviewsPrevalence of vitamin D deficiency in patients with autoimmune rheumatic diseases visiting the rheumatology clinic at the National Referral Hospital, Bhutan.
SAGE open medicineSystemic Sclerosis in Individuals With Exposure to World Trade Center Ground Zero Rescue and Recovery Efforts: A Case Series.
The Journal of rheumatologyMixed connective tissue and ovarian cancer: a case report.
Annals of medicine and surgery (2012)Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies.
Pediatric rheumatology online journalA rare event of perioperative spinal subarachnoid hemorrhage in mixed connective tissue disease: a case report.
Journal of spine surgery (Hong Kong)Unusual non-infectious cause of meningitis.
BMJ case reportsChildhood mixed connective tissue disease at disease onset: Evidence from a systematic review.
Autoimmunity reviewsDistal periarterial sympathectomy surgery for chronic digital ischemia: A systematic review of the literature.
Journal of orthopaedicsRegarding: Clinical presentation, course, and prognosis of patients with mixed connective tissue disease.
Journal of internal medicineA Rare Case of Primary Sjogren's Syndrome with Idiopathic Pulmonary Fibrosis with Variable Presentations: A case report.
Mymensingh medical journal : MMJEarly detection of interstitial lung disease in rheumatic diseases: A joint statement from the Portuguese Pulmonology Society, the Portuguese Rheumatology Society, and the Portuguese Radiology and Nuclear Medicine Society.
PulmonologyMixed connective tissue disease-myositis overlap syndrome presenting as an allergic disease process to the emergency department: A case report.
The American journal of emergency medicinePulmonary arterial hypertension associated with connective tissue diseases (CTD-PAH): Recent and advanced data.
Autoimmunity reviewsInterstitial lung disease phenotype in mixed, differentiated, or overlapping, connective tissue diseases: Comment on the article by Boleto et al.
Seminars in arthritis and rheumatism[Analysis of pregnancy outcomes, disease progression, and risk factors in patients with undifferentiated connective tissue disease].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesDFS70 Autoantibodies: Clinical Utility in Antinuclear Antibody Testing.
Clinical chemistryPredictors of Interstitial Lung Disease in Mixed Connective Tissue Disease.
Journal of clinical medicineAssociation of anti-Ro52 autoantibody with interstitial lung disease in autoimmune diseases: a systematic review and meta-analysis.
BMJ open respiratory researchClinical presentation, course, and prognosis of patients with mixed connective tissue disease: A multicenter retrospective cohort.
Journal of internal medicineCharacteristics of Interstitial Pneumonia With Autoimmune Features (IPAF): Protocol for a Multicenter Prospective Study.
JMIR research protocolsPulmonary hypertension in connective tissue diseases: What every CTD specialist should know - but is afraid to ask!
La Revue de medecine interneExtracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping.
Annals of the rheumatic diseasesMixed Connective Tissue Disease as Different Entity: Global Methylation Aspect.
International journal of molecular sciencesClinicopathological prognostic characteristics and long‑term outcomes of patients with breast cancer and collagen disorder in comparison to those without collagen disorder.
Oncology lettersHyaluronidase Injections for Oral Microstomia in Systemic Sclerosis and Mixed Connective Tissue Disease.
JAMA dermatologyIncreased Prevalence of Autoimmune Rheumatologic Diseases in Patients With Primary Hyperparathyroidism.
CureusProgression of radiographic fibrosis in rheumatoid arthritis-associated interstitial lung disease.
Frontiers in medicineAnti-SMN autoantibodies in mixed connective tissue disease are associated with a severe systemic sclerosis phenotype.
RMD openA very rare cause of blue finger: A case-based review.
Journal of scleroderma and related disordersOverlapping Autoimmune Diseases: A Case Report and Review of Eosinophilic Granulomatosis With Polyangiitis and Mixed Connective Tissue Disease.
CureusThe phenotype of mixed connective tissue disease patients having associated interstitial lung disease.
Seminars in arthritis and rheumatismAnti-U1RNP-70kD-positive case of neonatal lupus presenting with seizure and incomplete heart block: a case report and literature review.
Frontiers in pediatricsPromoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs.
Rheumatology internationalMyocarditis in connective tissue diseases: an often-overlooked clinical manifestation.
Rheumatology internationalDiscovery of the TLR7/8 Antagonist MHV370 for Treatment of Systemic Autoimmune Diseases.
ACS medicinal chemistry lettersAssociation of red cell distribution width with pulmonary arterial hypertension in patients with mixed connective tissue disease.
BMC pulmonary medicineTrigeminal Neuropathy as an Initial Manifestation in Pediatric-Onset Mixed Connective Tissue Disease.
Turkish archives of pediatricsExtramural hematoma after esophageal stricture dilatation in mixed connective tissue disease.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Spatial transcriptomics reveals mechanism of autoimmunity driven by internalized autoantibodies.
- Autoimmune-related dysphonia: vocal fold bamboo nodes.
- Trends and outcomes of lung transplant listings for connective tissue disease-associated interstitial lung disease (CTD-ILD): A 20-Year analysis from the organ procurement and transplantation network database.
- Chronic Limb-Threatening Ischemia Owing to Popliteal Artery Aneurysms With Repeated Occlusion After Stent Graft Placement That was Successfully Treated With Supera Stent Reinforcement: A Case Report.Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions· 2026· PMID 41820254mais citado
- Ruptured Sinus of Valsalva Aneurysm in a Patient With Mixed Connective Tissue Disease: Case Report.
- Overlap Syndrome of Ankylosing Spondylitis and Mixed Connective Tissue Disease in a Male Patient.
- Synchronous Intra-ampullary Papillary-Tubular Neoplasm and Gallbladder Cancer.
- Romosozumab-Associated Recurrent Erythema Nodosum in Mixed Connective Tissue Disease.
- Clinical Associations of Anti-RNPC3 Autoantibodies in Mixed Connective Tissue Disease.
- Maternal and fetal outcomes in pregnancies affected by mixed connective tissue disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:809(Orphanet)
- MONDO:0005854(MONDO)
- GARD:7051(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q1622407(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
