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1.
Int J Mol Sci ; 22(16)2021 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-34445668

RESUMO

Multiple sclerosis (MS) and Devic's disease (NMO; neuromyelitis optica) are autoimmune, inflammatory diseases of the central nervous system (CNS), the etiology of which remains unclear. It is a serious limitation in the treatment of these diseases. The resemblance of the clinical pictures of these two conditions generates a partial possibility of introducing similar treatment, but on the other hand, a high risk of misdiagnosis. Therefore, a better understanding and comparative characterization of the immunopathogenic mechanisms of each of these diseases are essential to improve their discriminatory diagnosis and more effective treatment. In this review, special attention is given to Th17 cells and Th17-related cytokines in the context of their potential usefulness as discriminatory markers for MS and NMO. The discussed results emphasize the role of Th17 immune response in both MS and NMO pathogenesis, which, however, cannot be considered without taking into account the broader perspective of immune response mechanisms.


Assuntos
Esclerose Múltipla/imunologia , Neuromielite Óptica/imunologia , Células Th17/imunologia , Imunidade Adaptativa/imunologia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Biomarcadores , Citocinas/imunologia , Citocinas/metabolismo , Diagnóstico Diferencial , Humanos , Esclerose Múltipla/diagnóstico , Neuromielite Óptica/diagnóstico , Células Th17/fisiologia
2.
Dtsch Arztebl Int ; 118(24): 413-420, 2021 06 18.
Artigo em Inglês | MEDLINE | ID: mdl-34369370

RESUMO

BACKGROUND: Bullous autoimmune dermatoses are a clinically and immunopatho - logically heterogeneous group of diseases, characterized clinically by blisters or erosions of the skin and/or mucous membranes. In Germany, their prevalence is approximately 40 000 cases nationwide, and their incidence approximately 20 new cases per million people per year. METHODS: This review is based on publications that were retrieved by a selective search of the literature focusing on the current German and European guidelines. RESULTS: Recent years have seen the publication of guidelines, controlled prospective clinical trials, and multicenter diagnostic studies improving both diagnosis and therapy. Specific monovalent and multivariate serological test systems and pattern analysis of tissue-bound autoantibodies allow identification of the target antigens in 80-90% of patients. This enables the precise classification of disease entities, with implications for treatment selection and disease outcome. In 2019, the anti-CD20 antibody rituximab was approved by the European Medicines Agency for the treatment of moderate and severe pemphigus vulgaris, with an ensuing marked improvement in the care of the affected patients. To treat mild and moderate bullous pemphigoid, topical clobetasol proprionate is recommended, in severe disease, combined with systemic treatment, i.e. usually (a) prednisolone p.o. at an initial dose of 0.5mg/kg/d , (b) an immunomodulant, e.g. dapsone or doxycycline, or (c) prednisolone plus an immunomodulant. CONCLUSION: The early recognition and precise diagnostic evaluation of bullous autoimmune dermatoses now enables improved, often interdisciplinary treatment, in accordance with the available guidelines. Current research projects are focused on new treatment approaches, an improved understanding of the underlying pathophysiology, and further refinements of diagnostic techniques.


Assuntos
Doenças Autoimunes , Penfigoide Bolhoso , Pênfigo , Dermatopatias Vesiculobolhosas , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/epidemiologia , Humanos , Estudos Multicêntricos como Assunto , Estudos Prospectivos , Dermatopatias Vesiculobolhosas/diagnóstico , Dermatopatias Vesiculobolhosas/tratamento farmacológico , Dermatopatias Vesiculobolhosas/epidemiologia
3.
Ned Tijdschr Geneeskd ; 1652021 06 24.
Artigo em Holandês | MEDLINE | ID: mdl-34346619

RESUMO

Systemic autoimmune diseases are characterized by their heterogenic clinical presentations and often poorly understood pathogenesis. As such, the diagnosis process may be complex and the final diagnosis is made by an expert, after considering a differential diagnosis. Classification criteria are developed for research purposes to select homogenous populations of already diagnosed patients. In clinical practice, these classification criteria are sometimes misused as diagnostic criteria. We describe three patient histories. Two patients met the classification criteria of several separate diseases, emphasizing the amount of overlap between different sets of criteria and the necessity of making a diagnosis before using classification criteria. A third patient was diagnosed with systemic sclerosis and later developed rheumatoid arthritis; a diagnosis that could have been overlooked if classification criteria were used diagnostically. We describe the correct use of classification criteria in systemic autoimmune diseases and discuss what the diagnostic process is supposed to entail.


Assuntos
Artrite Reumatoide , Doenças Autoimunes , Artrite Reumatoide/diagnóstico , Doenças Autoimunes/diagnóstico , Diagnóstico Diferencial , Humanos
4.
Int J Mol Sci ; 22(12)2021 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-34204207

RESUMO

ANCA-associated vasculitis (AAV) comprises granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA). While systemic vasculitis is a hallmark of all AAV, GPA is characterized by extravascular granulomatous inflammation, preferentially affecting the respiratory tract. The mechanisms underlying the emergence of neutrophilic microabscesses; the appearance of multinucleated giant cells; and subsequent granuloma formation, finally leading to scarred or destroyed tissue in GPA, are still incompletely understood. This review summarizes findings describing the presence and function of molecules and cells contributing to granulomatous inflammation in the respiratory tract and to renal inflammation observed in GPA. In addition, factors affecting or promoting the development of granulomatous inflammation such as microbial infections, the nasal microbiome, and the release of damage-associated molecular patterns (DAMP) are discussed. Further, on the basis of numerous results, we argue that, in situ, various ways of exposure linked with a high number of infiltrating proteinase 3 (PR3)- and myeloperoxidase (MPO)-expressing leukocytes lower the threshold for the presentation of an altered PR3 and possibly also of MPO, provoking the local development of ANCA autoimmune responses, aided by the formation of ectopic lymphoid structures. Although extravascular granulomatous inflammation is unique to GPA, similar molecular and cellular patterns can be found in both the respiratory tract and kidney tissue of GPA and MPA patients; for example, the antimicrobial peptide LL37, CD163+ macrophages, or regulatory T cells. Therefore, we postulate that granulomatous inflammation in GPA or PR3-AAV is intertwined with autoimmune and destructive mechanisms also seen at other sites.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/etiologia , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Suscetibilidade a Doenças , Granulomatose com Poliangiite/etiologia , Animais , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/diagnóstico , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/metabolismo , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/terapia , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Doenças Autoimunes/metabolismo , Autoimunidade , Biomarcadores , Movimento Celular/imunologia , Gerenciamento Clínico , Granulomatose com Poliangiite/diagnóstico , Granulomatose com Poliangiite/metabolismo , Granulomatose com Poliangiite/terapia , Humanos , Imunidade Inata , Imuno-Histoquímica/métodos , Especificidade de Órgãos/imunologia
5.
Eur J Med Genet ; 64(9): 104286, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34245909

RESUMO

Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by biallelic mutations in the ACP5 gene that encodes tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is extremely pleiotropic and is characterized by neurological impairment and immune dysfunction. This phenotype can mimic systemic lupus erythematosus. Herein, we report a child presented with systemic lupus erythematosus-like symptoms, including multisystem inflammation, autoimmunity, and immunodeficiency, but was subsequently diagnosed as SPENCD.


Assuntos
Doenças Autoimunes/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Lúpus Eritematoso Sistêmico/diagnóstico , Osteocondrodisplasias/diagnóstico , Fosfatase Ácida Resistente a Tartarato/genética , Doenças Autoimunes/genética , Pré-Escolar , Diagnóstico Diferencial , Feminino , Testes Genéticos , Humanos , Síndromes de Imunodeficiência/genética , Lúpus Eritematoso Sistêmico/genética , Osteocondrodisplasias/genética
6.
Int J Mol Sci ; 22(12)2021 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-34204387

RESUMO

In a healthy body, homeostatic actions of osteoclasts and osteoblasts maintain the integrity of the skeletal system. When cellular activities of osteoclasts and osteoblasts become abnormal, pathological bone conditions, such as osteoporosis, can occur. Traditional imaging modalities, such as radiographs, are insensitive to the early cellular changes that precede gross pathological findings, often leading to delayed disease diagnoses and suboptimal therapeutic strategies. 18F-sodium fluoride (18F-NaF)-positron emission tomography (PET) is an emerging imaging modality with the potential for early diagnosis and monitoring of bone diseases through the detection of subtle metabolic changes. Specifically, the dissociated 18F- is incorporated into hydroxyapatite, and its uptake reflects osteoblastic activity and bone perfusion, allowing for the quantification of bone turnover. While 18F-NaF-PET has traditionally been used to detect metastatic bone disease, recent literature corroborates the use of 18F-NaF-PET in benign osseous conditions as well. In this review, we discuss the cellular mechanisms of 18F-NaF-PET and examine recent findings on its clinical application in diverse metabolic, autoimmune, and osteogenic bone disorders.


Assuntos
Doenças Ósseas/diagnóstico , Doenças Ósseas/etiologia , Radioisótopos de Flúor , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Fluoreto de Sódio , Animais , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/etiologia , Doenças Autoimunes/metabolismo , Biomarcadores , Doenças Ósseas/metabolismo , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/etiologia , Doenças Ósseas Metabólicas/metabolismo , Diagnóstico Diferencial , Diagnóstico por Imagem/métodos , Gerenciamento Clínico , Suscetibilidade a Doenças , Humanos , Tomografia por Emissão de Pósitrons/métodos
7.
Arthritis Res Ther ; 23(1): 188, 2021 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-34256812

RESUMO

BACKGROUND: The risk of severe COVID-19 and its determinants remain largely unknown in patients with autoimmune and inflammatory rheumatic diseases. The objective of this study was to assess the prevalence of COVID-19 infection in patients followed for rare autoimmune diseases as well as the predictors of COVID-19 and disease flare-ups. METHODS: Cross-sectional phone survey from April 9, 2020, to July 2, 2020, during which patients with autoimmune diseases followed at the National Reference Center for Rare Autoimmune diseases of Strasbourg were systematically contacted by phone and sent a prescription for a SARS-CoV-2 serology. RESULTS: One thousand two hundred thirty-two patients were contacted. One thousand fifty-five patients with a confirmed diagnosis of systemic autoimmune disease were included (4 unreachable, 4 moves abroad, 5 deaths before pandemic, 50 without consent, and 114 without autoimmune disease). Among them, 469 (44.5%) patients were tested for SARS-CoV-2 serology. Thirty-nine patients (7.9%) had SARS-CoV-2 infection (either through chest CT-scan [n = 5], RT-PCR on nasopharyngeal swab [n = 14], or serology [n = 31]) among the 496 who underwent at least one of those 3 diagnosis modalities. Of the 39 proven cases, 33 had clinical manifestations (6 asymptomatic patients were diagnosed through systematic serology testing), 31 were managed by home care, 3 were hospitalized due to a need for oxygenation, two required admission to an intensive care unit, and one died. Among patients with confirmed SARS-CoV-2 infection, reported flares were more frequent than in uninfected patients (26.3% [10/38] vs. 7.0% [32/457], p < 0.0001). Preventive sick leave had no significant impact on the prevalence of SARS-CoV-2 infection (5.8% [3/53]) compared to work continuation (7.6% [30/397], p = 0.64). Overall, the seroprevalence of SARS-CoV-2 was 6.6% (31/469) which was numerically lower to the Grand-Est general population estimated to be 9.0%. CONCLUSIONS: This systematic survey of more than 1000 patients with rare systemic autoimmune diseases reports a low prevalence of proven SARS-CoV-2 infection and very rare severe infections, probably related to good compliance with prophylactic measures in these patients.


Assuntos
Doenças Autoimunes , COVID-19 , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/epidemiologia , Estudos Transversais , França/epidemiologia , Humanos , Incidência , SARS-CoV-2 , Estudos Soroepidemiológicos
8.
Acta Med Port ; 34(5): 347-354, 2021 May 02.
Artigo em Português | MEDLINE | ID: mdl-34253282

RESUMO

INTRODUCTION: Screening for autoantibodies in HEp-2 cells by indirect immunofluorescence is currently accepted as the gold-standard test for the diagnosis of systemic autoimmune diseases. The main objective of the International Consensus on ANA Patterns is to achieve a consensus on the nomenclature and description of antinuclear antibody morphological patterns. This work aims to build on the International Consensus on ANA Patterns project to establish a nomenclature consensus in Portugal, thus contributing to harmonization in autoimmune diagnosis and promoting diagnostic quality in autoimmune systemic rheumatic diseases. MATERIAL AND METHODS: Participating laboratories identified all the nuclear and cytoplasmic pattern designations in the International Consensus on ANA Patterns (including the anti-cell pattern code), and matched them with the corresponding Portuguese nomenclature in use. The results were aggregated and used as a foundation for nomenclature harmonization work. Consensus meetings followed an iterative process, until a final consensual proposal was drafted. RESULTS: Prior agreement between laboratories was over 75% for 23 of the total 29 anti-cell patterns. The degree to which each laboratory is aligned with the International Consensus on ANA Patterns international reference ranges from 22.1% to 100%. It was possible to write a consensual version of the International Consensus on ANA Patterns nomenclature for Portugal. DISCUSSION: There was a good consensus basis for the nomenclature in the International Consensus on ANA Patterns, despite relevant differences with some translations. The study highlights the need for collaboration among laboratories towards an unambiguous description of laboratory results. CONCLUSION: This study shows that there is good potential for collaboration between laboratories in order to produce the consensus needed to improve diagnosis and patient follow-up.


Assuntos
Anticorpos Antinucleares , Doenças Autoimunes/diagnóstico , Técnica Indireta de Fluorescência para Anticorpo/métodos , Autoanticorpos , Consenso , Humanos , Programas de Rastreamento , Portugal
10.
J Med Case Rep ; 15(1): 340, 2021 Jul 09.
Artigo em Inglês | MEDLINE | ID: mdl-34238362

RESUMO

BACKGROUND: Pulmonary alveolar proteinosis is a rare interstitial lung disease characterized by accumulating surfactant materials in the alveoli. The autoimmune form is by far the most common in adults, while in the pediatric age group, the vast majority of cases are congenital. We report a case of an adolescent patient diagnosed with autoimmune pulmonary alveolar proteinosis, which is unusual in this age group. CASE PRESENTATION: A-15 year-old Saudi male presented to the emergency department with a history of shortness of breath and low oxygen saturation. High-resolution computed tomography of his chest showed a global crazy-paving pattern. Autoantibodies against granulocyte-macrophage colony-stimulating factor were detected in his serum. A diagnosis of the autoimmune form of pulmonary alveolar proteinosis was confirmed after excluding other possible causes. The patient improved after he underwent whole lung lavage under general anesthesia, and he was independent of oxygen therapy after 6 months of follow-up. CONCLUSION: The autoimmune form of pulmonary alveolar proteinosis is rare in the pediatric age group and should be considered when no apparent cause of this disease was found. Whole lung lavage should be the first treatment modality offered in this setting with close follow-up and monitoring.


Assuntos
Doenças Autoimunes , Proteinose Alveolar Pulmonar , Adolescente , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/terapia , Lavagem Broncoalveolar , Criança , Fator Estimulador de Colônias de Granulócitos e Macrófagos , Humanos , Pulmão , Masculino , Proteinose Alveolar Pulmonar/diagnóstico por imagem , Proteinose Alveolar Pulmonar/terapia
11.
Clin Exp Rheumatol ; 39(4): 727-735, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34238402

RESUMO

OBJECTIVSE: To explore the clinical characteristics and treatment efficacy of IgG4-related disease (IgG4-RD) patients with different levels of serum IgG4. METHODS: A total of 299 patients newly diagnosed with IgG4-RD were enrolled in this study. Patients were classified into four groups according to baseline serum IgG4 levels: Group A: normal concentration; Group B: > normal but <2× the upper reference limit (URL); Group C: between 2× and 5× the URL; Group D: >5× the URL. All patients were followed up for 12 months. The patients' clinical characteristics, laboratory parameters, plasmablasts/plasma cells and treatment efficacy were analysed. RESULTS: IgG4-RD patients with higher serum IgG4 levels had higher percentages of dacryoadenitis, sialadenitis, and autoimmune pancreatitis and a higher prevalence of allergy history, whereas patients with retroperitoneum and mediastinum lesions usually had lower serum IgG4 levels. In addition, the serum IgG4 re-elevation rate in Group D (19.4%) was higher than those in Group B (4.9%) and Group C (7.7%) (p=0.003 and p=0.020, respectively). Patients suffered fewer clinical relapses with a serum IgG4 reduction ≥50% of baseline serum IgG4 in Group B and ≥40% of baseline serum IgG4 in Group D (p=0.019 and p=0.043, respectively). In addition, the rate of clinical relapse in patients who received combination therapy with glucocorticoids and mycophenolate mofetil was 18.75% in Group D, which was higher than the rates in Groups B and C (0) (p=0.027). CONCLUSIONS: IgG4-RD patients with different levels of serum IgG4 exhibit different clinical characteristics and treatment responses.


Assuntos
Doenças Autoimunes , Doença Relacionada a Imunoglobulina G4 , Sialadenite , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Humanos , Imunoglobulina G , Doença Relacionada a Imunoglobulina G4/diagnóstico , Doença Relacionada a Imunoglobulina G4/tratamento farmacológico , Plasmócitos , Resultado do Tratamento
12.
World J Gastroenterol ; 27(25): 3825-3836, 2021 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-34321847

RESUMO

Ordinary chronic pancreatitis is a well-known risk factor for pancreatic cancer, whereas such an association with autoimmune pancreatitis (AIP) is widely debated. Due to the rarity of the latter disorder, there are few specific clinical and epidemiological studies investigating the relation between AIP and pancreatic cancer, which do not seem to support it. However, these studies are affected by several limitations and, therefore, a link between AIP (and, specifically, type 1 AIP) and pancreatic cancer cannot be ruled out definitively on this basis. Moreover, several immunopathological aspects of type 1 AIP and, in general, immunoglobulin G4-related disease can create an immunological context that may impair the tumoral immunosurveillance and promote the pancreatic carcinogenesis and its progression. In detail, Th2 immunological dominance, type 2 macrophage polarization and basophil infiltration observed in type 1 AIP, may play a permissive role in creating a favorable immunological environment for pancreatic carcinogenesis, in addition to the immunosuppressive therapies that can be used in these patients.


Assuntos
Doenças Autoimunes , Pancreatite Autoimune , Neoplasias Pancreáticas , Pancreatite Crônica , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/epidemiologia , Diagnóstico Diferencial , Humanos , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/epidemiologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/epidemiologia
13.
Braz J Med Biol Res ; 54(10): e11355, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34287582

RESUMO

The etiology of subacute combined degeneration (SCD) of the spinal cord is closely associated with vitamin B12 (VitB12) deficiency. The clinical manifestations of SCD are complex and vary substantially. Due to some SCD patients with atypical manifestations and concomitant autoimmune disorders, the probability of misdiagnosis and missed diagnosis is still relatively high in the early stage. We report the cases of two patients who were missed or misdiagnosed at another hospital because of the normal initial VitB12 level and partial overlap of clinical manifestations, finally diagnosed as SCD with atypical manifestations and concomitant autoimmune disorders, pharyngeal-cervical-brachial Guillain-Barre syndrome in Case 1 and SCD with autoimmune thyroiditis in Case 2. After undergoing corresponding treatment, death was reported in Case 1 and improvement in Case 2. Analysis of the clinical manifestations and investigation of the underlying pathogenesis in such patients could help improve the rate of early diagnosis and allow timely treatment of SCD, thereby preventing disease progression and poor clinical outcomes.


Assuntos
Doenças Autoimunes , Degeneração Combinada Subaguda , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Medula Espinal , Degeneração Combinada Subaguda/complicações , Degeneração Combinada Subaguda/diagnóstico , Degeneração Combinada Subaguda/patologia , Vitamina B 12
14.
Vnitr Lek ; 67(2): 76-83, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34074105

RESUMO

IgG4-related disease is a recently defined clinical entity that can manifest itself in any organ. The most common gastrointestinal manifestations are diseases of the pancreas (autoimmune pancreatitis type 1) and biliary tree (IgG4-associated cholangitis); involvement of liver parenchyma is uncommon and the affection of tubular organs is very rare. IgG4-related pancreatitis and cholangitis can mimic malignancies in their clinical presentation. Diagnosis is often difficult and requires careful evaluation of the combination of symptoms, serology and imaging findings, while adhering to the established diagnostic criteria. The first line of treatment is the administration of corticoids and the remission is achieved in the vast majority of patients. In case of contraindication, intolerance or failure of corticotherapy, patients should receive B cell depletion therapy (rituximab). Based on the available knowledge, monotherapy with other immunosuppressants is not considered to be sufficiently effective. Some patients may benefit from maintenance treatment to prevent relapse, which is otherwise common in both IgG4-related pancreatitis and cholangitis. Recognized IgG4-related disease has a good prognosis, but some patients develop irreversible fibrotic changes in the affected organ with consequent dysfunction; the possible association of the disease with a higher risk of malignancy has not yet been reliably elucidated.


Assuntos
Doenças Autoimunes , Colangite Esclerosante , Colangite , Gastroenterologia , Doença Relacionada a Imunoglobulina G4 , Pancreatite , Doenças Autoimunes/diagnóstico , Humanos , Doença Relacionada a Imunoglobulina G4/diagnóstico , Pancreatite/diagnóstico
15.
Methods Mol Biol ; 2344: 99-106, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34115354

RESUMO

Autoantibodies are humoral antibodies against self-proteins and play vital roles in maintaining the homeostasis. Autoantibodies can also target posttranslational modifications (PTMs) of proteins and the identification of new PTM autoantibodies is important to identify biomarkers for the early diagnosis of cancer and autoimmune diseases. In this chapter, we describe a method to detect PTM autoantibodies using citrullinated peptide microarray as an example. This method can be used to screen serum autoantibodies for different human diseases.


Assuntos
Autoanticorpos/análise , Doenças Autoimunes/diagnóstico , Análise Serial de Proteínas , Autoanticorpos/imunologia , Doenças Autoimunes/imunologia , Biomarcadores/análise , Humanos , Processamento de Proteína Pós-Traducional
16.
Autoimmun Rev ; 20(8): 102864, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34118454

RESUMO

The past decade has seen tremendous development in digital health, including in innovative new technologies such as Electronic Health Records, telemedicine, virtual visits, wearable technology and sophisticated analytical tools such as artificial intelligence (AI) and machine learning for the deep-integration of big data. In the field of rare connective tissue diseases (rCTDs), these opportunities include increased access to scarce and remote expertise, improved patient monitoring, increased participation and therapeutic adherence, better patient outcomes and patient empowerment. In this review, we discuss opportunities and key-barriers to improve application of digital health technologies in the field of autoimmune diseases. We also describe what could be the fully digital pathway of rCTD patients. Smart technologies can be used to provide real-world evidence about the natural history of rCTDs, to determine real-life drug utilization, advanced efficacy and safety data for rare diseases and highlight significant unmet needs. Yet, digitalization remains one of the most challenging issues faced by rCTD patients, their physicians and healthcare systems. Digital health technologies offer enormous potential to improve autoimmune rCTD care but this potential has so far been largely unrealized due to those significant obstacles. The need for robust assessments of the efficacy, affordability and scalability of AI in the context of digital health is crucial to improve the care of patients with rare autoimmune diseases.


Assuntos
Doenças Autoimunes , Telemedicina , Inteligência Artificial , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/terapia , Big Data , Humanos , Aprendizado de Máquina
17.
Korean J Intern Med ; 36(4): 992-1000, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-34126665

RESUMO

BACKGROUND/AIMS: The risk of herpes zoster (HZ) is increased in patients with autoimmune diseases (AID), probably due to immunosuppressive therapy. METHODS: This prospective cross-sectional study investigated varicella zoster virus (VZV)-specific immunity in relation to subclinical VZV reactivation in 48 AID patients and 48 healthy controls (HCs). We assessed humoral immunity (serum VZV immunoglobulin g [IgG], IgA, and IgM) and cell-mediated immunity (interferon-γ [IFNγ]-releasing assay) to VZV as well as salivary VZV DNA status. Subclinical VZV reactivation was confirmed by detecting VZV DNA in saliva or VZV IgM in serum in the absence of typical HZ symptoms. RESULTS: Median IgA levels were higher in the AID group than in the HC group, while VZV IgG and IgM levels were comparable between the groups. AID patients showed fewer IFNγ spot-forming cells (SFCs) upon VZV stimulation than HCs (58.2 vs. 122.0 SFCs/106 peripheral blood mononuclear cells [PBMCs], p < 0.0001). Subclinical VZV reactivation was more frequent in AID patients than in HCs (12.5% vs. 0%, p = 0.01). AID patients with VZV reactivation received prednisolone more frequently and at a higher dose than AID patients without reactivation. VZV-specific IFNγ SFCs were significantly lower in patients with VZV reactivation among AID patients (26.3 vs. 62.6 SFCs/106 PBMCs, p < 0.0001). CONCLUSION: Results suggest that poor cellular response against VZV might cause clinical and subclinical reactivation of VZV in AID patients.


Assuntos
Doenças Autoimunes , Herpesvirus Humano 3 , Doenças Autoimunes/diagnóstico , Estudos Transversais , Humanos , Leucócitos Mononucleares , Estudos Prospectivos
18.
Clin Drug Investig ; 41(7): 615-627, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34110613

RESUMO

BACKGROUND AND OBJECTIVE: Immune checkpoint inhibitors (ICIs) such as programmed cell death protein 1 (PD-1) and cytotoxic T-lymphocyte antigen 4 (CTLA-4) inhibitors have greatly improved cancer treatment. However, they are associated with immune-related adverse events, including autoimmune diseases (ADs) owing to their immune enhancement effect. As there are few comprehensive studies of ADs by ICIs, it is necessary to analyze the period information of drug-induced ADs. We also assumed that the temporal information may be useful to estimate the similarity of the pathogenic mechanism between spontaneous and ICI-induced ADs. METHODS: A period analysis including the Weibull analysis was performed on ICI-induced ADs using the Japanese Adverse Drug Event Report (JADER) database. For evaluating the similarity of spontaneous and ICI-induced ADs, a hierarchical cluster analysis was conducted to compare the different onset-time ranges. RESULTS: Type 1 diabetes mellitus, autoimmune colitis, and pemphigoid occurred earlier with CTLA-4 inhibitors (median: 46, 29.5 and 28 days, respectively) than with PD-1 inhibitors (> 130 days). Myasthenia gravis had a median time to onset of approximately 1 month, and the risk of onset would increase over time in ipilimumab combination therapy. This result reveals ADs that require attention. Using cluster analysis, we estimated six clusters with different patterns of onset times. Based on these results and a detailed previous research survey, the possible pathogenesis of drug-induced ADs was also discussed. CONCLUSIONS: This paper describes risk profiles with temporal information of ICI-induced ADs and proposes certain indicators for deciphering the mechanism of AD onset.


Assuntos
Doenças Autoimunes/diagnóstico , Inibidores de Checkpoint Imunológico/efeitos adversos , Doenças Autoimunes/induzido quimicamente , Antígeno CTLA-4/antagonistas & inibidores , Antígeno CTLA-4/metabolismo , Análise por Conglomerados , Bases de Dados Factuais , Diabetes Mellitus Tipo 1/tratamento farmacológico , Humanos , Inibidores de Checkpoint Imunológico/uso terapêutico , Ipilimumab/efeitos adversos , Ipilimumab/uso terapêutico , Japão , Miastenia Gravis/tratamento farmacológico , Razão de Chances , Receptor de Morte Celular Programada 1/antagonistas & inibidores , Receptor de Morte Celular Programada 1/metabolismo
19.
BMJ Case Rep ; 14(5)2021 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-33975845

RESUMO

Immune-mediated necrotising myopathy is a rare autoimmune myopathy characterised by severe progressive muscle weakness, elevated levels of creatine kinase (CK), and necrosis with minimal inflammatory cell infiltration on muscle biopsy. We report a case of a previously healthy 42-year-old woman who presented with progressive muscle weakness 2 weeks after immunisation for yellow fever, tetanus/diphtheria and hepatitis B. Her symptoms started from the lower limbs and progressed to the upper limbs and cervical region associated with dysphagia, making her wheelchair bound. Electromyography showed a myopathic pattern, with a CK level of 12.177 U/L (reference value: 26-190 U/L), and biceps brachial muscle biopsy confirmed necrosis and regeneration fibres. The immunoblot test was positive for antisignal recognition particle. She was successfully treated with prednisone (1 mg/kg/day). Although considered safe, vaccines may cause allergic reactions or trigger autoimmune disorders. Currently, a causal relationship between them cannot be established.


Assuntos
Doenças Autoimunes , Doenças Musculares , Miosite , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Creatina Quinase , Feminino , Humanos , Doenças Musculares/induzido quimicamente , Miosite/diagnóstico , Miosite/etiologia , Vacinação
20.
BMJ Case Rep ; 14(5)2021 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-33975851

RESUMO

A 62-year-old woman was referred to our department for further investigation of anaemia. Blood test showed macrocytic anaemia. Oesophagogastroduodenoscopy (OGD) revealed proximal-predominant gastric atrophy and flat elevated lesion in the gastric body. Several days after OGD, she complained of gait disturbance and was diagnosed with subacute combined degeneration of the spinal cord. Furthermore, laboratory tests showed positive for both anti-parietal cell and anti-intrinsic factor antibodies, as well as increased serum gastrin level and decreased pepsinogen I level, which confirmed the diagnosis of autoimmune gastritis (AIG). Anaemia and neurological symptoms were improved after vitamin B12 supplementation. Subsequently, the patient underwent gastric endoscopic submucosal dissection; histopathological examination revealed gastric adenoma. AIG can cause gastric neoplasms and vitamin B12 deficiency, with the latter resulting in pernicious anaemia and neurological disorders. These diseases are treatable but potentially life-threatening. This case highlights the importance of early diagnosis of AIG and proper management of its comorbidities.


Assuntos
Adenoma , Doenças Autoimunes , Gastrite , Neoplasias Gástricas , Degeneração Combinada Subaguda , Deficiência de Vitamina B 12 , Adenoma/patologia , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/patologia , Feminino , Gastrite/complicações , Gastrite/diagnóstico , Gastrite/patologia , Humanos , Pessoa de Meia-Idade , Medula Espinal/patologia , Neoplasias Gástricas/complicações , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/cirurgia , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Deficiência de Vitamina B 12/tratamento farmacológico
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