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Introducción: El Síndrome de Sjögren (SS) es una enfermedad autoinmune de carácter sistémico, que afecta principalmente al sistema glandular exocrino, generando un funcionamiento anormal de las glándulas lacrimales y salivales. Objetivo: proporcionar una actualización sobre la identificación de nuevos biomarcadores y mecanismos moleculares implicados en la fisiopatogénesis del SS. Método: Revisión narrativa de la literatura en diferentes bases de datos, mediante la búsqueda de términos descritos incluidos en los tesauros MESH y DeCs, para artículos publicados a partir del año 2018. Resultados: presentamos evidencia que destaca la identificación de nuevos biomarcadores y mecanismos implicados en la fisiopatogénesis del SS, describiendo las vías de: linfocitos B, catepsina S, cistatina C, quimioquina C-X3-C modificada de ligando 1, quimiocina regulada por activación del timo, células T, proteína morfogenética ósea 6, estimulación del receptor de oxitocina, receptor de zinc, calponina-3. Conclusión: los avances en la tecnología facilita el análisis detallado de la genética y fisiopatogénesis del SS, impulsando el desarrollo de terapias específicas. La búsqueda de biomarcadores no invasivos responde a las limitaciones de los métodos existentes y la invasividad de las biopsias salivales, prometiendo mejoras diagnósticas y terapéuticas.
Introduction: Sjögren's Syndrome (SS) is a systemic autoimmune disease that primarily affects the exocrine glandular system, leading to abnormal lacrimal and salivary gland function. Objective: To provide an update on identifying new biomarkers and molecular mechanisms involved in the pathogenesis of SS. Method: Narrative review of the literature in various databases, searching for terms included in the MESH and DeCs thesauri, for articles published since 2018. Results: We present evidence highlighting the identification of new biomarkers and mechanisms involved in the pathogenesis of SS, describing pathways of B lymphocytes, cathepsin S, cystatin C, modified C-X3-C chemokine ligand 1, thymus activation-regulated chemokine, T cells, bone morphogenetic protein 6, oxytocin receptor stimulation, zinc receptor, and calponin-3. Conclusion: Advances in technology facilitate detailed analysis of the genetics and pathogenesis of SS, driving the development of specific therapies. The search for non-invasive biomarkers is driven by the limitations of existing methods and the invasiveness of salivary gland biopsies, promising diagnostic and therapeutic improvements.
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En esta revisión abordamos la autoinmunidad, destacando los mecanismos defectuosos en la tolerancia inmunológica y su relación con enfermedades autoinmunes. Nos centramos en la proteína POMP y el sistema ubiquitina-proteosoma, explicando su función en la degradación proteínica y su papel en la formación del inmunoproteosoma. Se detalla la estructura del proteosoma, la ubiquitinización, y se destaca la influencia de POMP en la respuesta inflamatoria, especialmente en la formación del inmunoproteosoma bajo la estimulación del interferón. Además, se explora la implicación de POMP en procesos autoinflamatorios, como los síndromes asociados al proteosoma, y se menciona su relación con enfermedades autoinmunes, incluyendo el lupus eritematoso sistémico. Se describen casos clínicos que resaltan la importancia de POMP en la autoinmunidad.
This publication addresses autoimmunity, and defective mechanisms in immunological tolerance as well as their connection to autoimmune diseases. It focuses on the POMP protein and the ubiquitin-proteasome system, explaining its role in protein degradation and its involvement in the formation of the immunoproteasome. The structure of the proteasome, ubiquitination, and the influence of POMP on the inflammatory response are detailed, highlighting the formation of the immunoproteasome under interferon stimulation. Additionally, the text explores the implication of POMP in autoinflammatory processes, such as proteasome-associated syndromes, and mentions its association with autoimmune diseases, including systemic lupus erythematosus. Clinical cases are described to underscore the significance of POMP in autoimmunity.
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Introducción: El lupus eritematoso sistémico (LES) es una enfermedad autoinmune que causa inflamación sistémica y alteraciones en la tolerancia inmunológica. La activación de los genes inducibles por interferón (IFN), contribuye en más del 50% de su patogenia. Objetivo: relacionar el papel del IFN-λ en la patogenia del LES. Materiales y Métodos: Búsqueda sistémica en base de datos; a través de las palabras claves del MeSH and DeCS. Fue incluido adicionalmente la palabra "Interferón Lambda". Resultados: Se encontró que la producción aberrante de interferón tipo I contribuye a la desregulación de IFN-λ, producido principalmente por células dendríticas plasmocitoides. Este proceso conduce a la estimulación inmunológica por autoanticuerpos y a un aumento de IFNλR-1 en células B, potenciando la generación de anticuerpos. IFN-λ3 se asocia particularmente con nefritis lúpica, y el IFN-λ en general aumenta la expresión de MHC-I, intensificando la respuesta de células T CD8+ y posiblemente afectando la tolerancia central y la regulación en el timo. Conclusión: Se destaca que el IFN-λ favorece la activación inmune, formación de inmunocomplejos, inflamación crónica y producción de autoanticuerpos, vinculándose niveles altos de IFN-λ3 con mayor actividad de la enfermedad.
Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that causes systemic inflammation and alterations in immunological tolerance. The activation of interferon (IFN)-inducible genes contributes to more than 50% of its pathogenesis. Objective: to review the role of IFN-λ in the pathogenesis of SLE. Materials and Methods: Systemic search in database; through the MeSH and DeCS keywords. The word "Lambda Interferon" was additionally included. Results: Aberrant production of type I interferon was found to contribute to the deregulation of IFN-λ, produced mainly by plasmacytoid dendritic cells. This process leads to immunological stimulation by autoantibodies and an increase in IFNλR-1 in B cells, enhancing the generation of antibodies. IFN-λ3 is particularly associated with lupus nephritis, and IFN-λ generally increases MHC-I expression, enhancing the CD8+ T cell response and possibly affecting central tolerance and regulation in the thymus. Conclusion: It is highlighted that IFN-λ favors immune activation, formation of immune complexes, chronic inflammation and production of autoantibodies, linking high levels of IFN-λ3 with greater disease activity.
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Innate immune system activation is crucial in the inflammatory response, but uncontrolled activation can lead to autoimmune diseases. Cellular exhaustion and senescence are two processes that contribute to innate immune tolerance breakdown. Exhausted immune cells are unable to respond adequately to specific antigens or stimuli, while senescent cells have impaired DNA replication and metabolic changes. These processes can impair immune system function and disrupt homeostasis, leading to the emergence of autoimmunity. However, the influence of innate immune exhaustion and senescence on autoimmune disorders is not well understood. This review aims to describe the current findings on the role of innate immune exhaustion and senescence in autoimmunity, focusing on the cellular and molecular changes involved in each process. Specifically, the article explores the markers and pathways associated with immune exhaustion, such as PD-1 and TIM-3, and senescence, including Β-galactosidase (β-GAL), lamin B1, and p16ink4a, and their impact on autoimmune diseases, namely type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus, and immune-mediated myopathies. Understanding the mechanisms underlying innate immune exhaustion and senescence in autoimmunity may provide insights for the development of novel therapeutic strategies.
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Abstract Background: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. Objective: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. Methods: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. Results: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). Study limitations: The assessed population comes from a tertiary care service that is not a reference for the entire state. Conclusions: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.
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Vitiligo is an acquired depigmented disease, and neurological factors may play an important role in its pathogenesis. Neurogenic inflammatory factors released by sensory nerves that control the skin can directly or indirectly regulate functions of keratinocytes, melanocytes, Langerhans cells, dermal dendritic cells, mast cells, dermal microvascular endothelial cells and immune cells. This review summarizes roles of several relevant neurogenic inflammatory factors in the occurrence and development of vitiligo, including neuropeptide Y, calcitonin gene-related peptide, catecholamines and nerve growth factor, with a view to providing new ideas for clinical treatment of vitiligo.
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Objective:To analyze the differences in clinical and endoscopic ultrasonography (EUS) findings between diffuse and focal IgG4-related autoimmune pancreatitis (IgG4-AIP).Methods:Data of patients diagnosed as having IgG4-AIP who underwent EUS at Chinese PLA General Hospital from September 2011 to April 2022 were retrospectively collected. General clinical data, EUS features, and postoperative pathology were analyzed for characteristic differences.Results:A total of 40 patients were included in the study, 60.03±10.87 years old, a higher proportion of males (85.0%, 34/40). All patients underwent EUS, and 28 underwent EUS-guided fine-needle aspiration. Among the 40 patients, 29 (72.5%) had diffuse type and 11 (27.5%) had focal type. Abdominal pain [65.5% (19/29) VS 18.2% (2/11), χ2=5.393, P=0.020] and thickening of the bile duct wall [51.7% (15/29) VS 9.1% (1/11), χ2=4.394, P=0.036] were more common in the diffuse type, while main pancreatic duct dilation [45.5% (5/11) VS 10.3% (3/29), χ2=4.146, P=0.042] was more common in the focal type, with the lesion most commonly located in the pancreatic head (90.9%, 10/11). There was no significant difference in the presence of chronic pancreatitis parenchymal changes between the two groups [34.5% (10/29) VS 27.3% (3/11), χ2=0.003, P=0.955]. Conclusion:There are certain differences in abdominal pain and biliary and pancreatic duct lesions between diffuse and focal AIP. The high expression of chronic pancreatitis characteristics is not observed in either group, which provides clues for the classification of AIP in clinical practice.
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El síndrome de Vogt-Koyanagi-Harada (VKH) es una rara enfermedad granulomatosa multisistémica caracterizada por aparición de panuveítis grave bilateral y desprendimiento seroso de retina; puede acompañarse de un amplio espectro de síntomas extraoculares como los auditivos, y la afección más frecuente es la hipoacusia neurosensorial. Su etiología se reconoce como respuesta autoinmune mediada por células T contra antígenos de melanocitos presentes en coroides, meninges, cóclea y piel. Asimismo, factores genéticos del huésped se han identificado como predisponentes para su aparición, y es la presencia del alelo HLA-DR4, en particular el subtipo HLA-DRB1 0405, el más estudiado hasta la fecha. El tratamiento se basa en administración de corticosteroides sistémicos en dosis altas, sin embargo, es escasa la evidencia que evalúa específicamente la eficacia de estos medicamentos sobre sus manifestaciones audiovestibulares. Este artículo expone un caso de síndrome de VKH con compromiso auditivo concomitante y realiza una breve revisión narrativa de la literatura.
Vogt-Koyanagi-Harada syndrome (VKHS) is a rare multisystemic granulomatous disease, characterized by severe bilateral panuveitis and serous retinal detachment; it can be associated with a wide spectrum of extraocular symptoms, such as auditory symptoms, and the most common condition is sensorineural hearing loss. Its etio-logy is recognized as a T-cell-mediated autoimmune response against melanocyte antigens present in the choroid, meninges, cochlea, and skin. Likewise, host genetic factors have been identified as predisposing for its development, specifically the pre-sence of the HLA-DR4 allele, the HLA-DRB1 0405 subtype is the most studied up to date. Treatment is based on the administration of high doses of systemic corticos-teroids, however, there is not much evidence that specifically evaluates the efficacy of these medications on their audiovestibular manifestations. This article presents a clinical case of VKH syndrome with concomitant hearing impairment and carries out a short narrative review of the literature.
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Humans , Male , FemaleABSTRACT
Abstract Background Vitiligo is the most common pigmentary disorder and is considered a chronic, cumulative, multifactorial disease. The crucial role of cytotoxic CD8+ T lymphocytes and the IFNγ/CXCL10 axis has been demonstrated in its pathogenesis. Objective To evaluate the clinical profile and immuno-inflammatory markers in patients with vitiligo in a reference medical center. Methods Cross-sectional study in which all patients with vitiligo seen at the medical center the from 2019 to 2022 were evaluated, to outline the clinical profile. Moreover, cardiovascular risk biomarkers (neutrophil/lymphocyte ratio and C-reactive protein levels) were measured, as well as cytokines and chemokines (TNFα, IFNγ, IL10, IL15 and CXCL10) in the serum of a subgroup of 30 patients. Results There was a predominance of females, with a mean age of 43 years. Most were phototypes IV or V (71.3%), without comorbidities (77.55%), and without a family history of vitiligo (70.41%). Higher levels of neutrophil/lymphocyte ratio, C-reactive protein, and inflammatory cytokines/chemokines were documented in vitiligo patients when compared to the control group (non-significant). As relevant data, the highest values of CXCL10 were detected in patients with vitiligo versus controls, as well as in patients with disease of shorter duration (p < 0.05). Study limitations The number of assessed patients was small due to recruitment difficulties caused by the COVID-19 pandemic. Conclusion The present data contribute to confirming the relevant role of the IFNγ/CXCL10 axis in the pathogenesis of vitiligo, highlighting CXCL10 as a possible activity marker.
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ABSTRACT Sympathetic ophthalmia is a rare and potentially devastating bilateral diffuse granulomatous panuveitis. It is caused by surgical or non-surgical eye injuries and is an uncommon and serious complication of trauma. It is diagnosed clinically and supported by imaging examinations such as ocular ultrasonography and optical coherence tomography. Its treatment consists of immunosuppressive therapy with steroids and sometimes steroid-sparing drugs, such as cyclosporine, azathioprine, cyclophosphamide, and mycophenolate mofetil. Fast and effective management with systemic immunosuppressive agents allows for disease control and achievement of good visual acuity in the sympathizing eye. By contrast, enucleation should be considered only in situations where the injured eye has no light perception or in the presence of severe trauma. In addition to a bibliographic review of this topic, we report six cases involving different immunosuppressive and surgical treatment modalities.
RESUMO A oftalmia simpática consiste em uma panuveíte granulomatosa bilateral rara e potencialmente devastadora, ocorrendo geralmente após trauma ocular cirúrgico ou não cirúrgico. O diagnóstico é baseado em aspectos clínicos e apoiado por exames de imagem, como ultrassonografia ocular e tomografia de coerência óptica. O tratamento consiste em terapia imunossupressora com esteróides e, eventualmente, drogas poupadoras de esteróides, como ciclosporina, azatioprina, ciclofosfamida e micofonato de mofetila. O manejo rápido e eficaz com agentes imunossupressores sistêmicos permite o controle da doença e a obtenção de boa acuidade visual no olho simpatizante. A enucleação, por outro lado, poderia ser considerada apenas em situações em que o olho lesado não tem percepção luminosa ou há trauma grave. Além de uma revisão bibliográfica sobre o tema, foi relatada uma série de 6 casos com diferentes modalidades de tratamento imunossupressor e cirúrgico.
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SUMMARY OBJECTIVE: Various studies have reported that certain long non-coding RNA levels are unusually low in the intestines of celiac disease patients, suggesting that this may be associated with the inflammation observed in celiac disease. Despite these studies, the research aimed at uncovering the potential role of long non-coding RNAs in the pathogenesis of autoimmune diseases like celiac disease remains insufficient. Therefore, in this study, we plan to assess long non-coding RNA polymorphisms associated with autoimmunity in children diagnosed with celiac disease according to the European Society for Paediatric Gastroenterology Hepatology and Nutrition criteria. METHODS: DNA was isolated from paraffin tissue samples of 88 pediatric celiac disease patients and 74 healthy pediatric individuals. Single-nucleotide polymorphism genotyping of five long non-coding RNA polymorphisms associated with autoimmunity (LINC01934-rs1018326, IL18RAP-rs917997, AP002954.4-rs10892258, UQCRC2P1-rs6441961, and HCG14 rs3135316) was conducted using the TaqMan single-nucleotide polymorphism genotyping assays with the LightCycler 480. RESULTS: In our study, the genotypic and allelic frequency distribution of LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms was found to be statistically significant in the comparison between the two groups (p<0.05). According to the multiple genetic model analyses, the LINC01934-rs1018326 polymorphism was observed to confer a 1.14-fold risk in the recessive model and a 1.2-fold risk in the additive model for pediatric celiac disease. Similarly, the AP002954.4-rs10892258 polymorphism was found to pose a 1.40-fold risk in the dominant model and a 1.7-fold risk in the additive model. CONCLUSION: Our study results draw attention to the LINC01934-rs1018326 and AP002954.4-rs10892258 polymorphisms in celiac disease and suggest that these polymorphisms may be associated with inflammation in autoimmune diseases like celiac disease.
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SUMMARY OBJECTIVE: Cellular and humoral immunity plays a role in the pathogenesis of vitiligo. T lymphocytes and natural killer cells involved in cellular immunity carry out their cytotoxic activities through perforin/granzyme-dependent granule exocytosis, in which granulysin and cathepsin-L are also involved. The aim of this study was to investigate the possible role of serum granulysin and cathepsin-L in the etiopathogenesis of vitiligo and their association with disease activity and severity. METHODS: This randomized, prospective case-control study was conducted with 46 vitiligo patients admitted to the hospital for vitiligo between January and November 2021 and 46 healthy volunteers of similar age and gender. Serum levels of granulysin and cathepsin-L were measured by the enzyme-linked immunosorbent assay method. RESULTS: The mean serum levels of granulysin and cathepsin-L were statistically significantly higher in vitiligo patients compared with the control group (p=0.048 and p=0.024, respectively). There was no statistically significant correlation between serum granulysin and serum cathepsin-L levels and disease severity in the patient group (r=0.30, p=0.062 and r=0.268, p=0.071, respectively). Disease activity also showed no significant association with serum granulysin and cathepsin-L levels (p=0.986 and p=0.962, respectively). CONCLUSION: Although granulysin and cathepsin-L are molecules involved in the pathogenesis of vitiligo, the use of these molecules may not be helpful in assessing disease activity and severity. It may be helpful to conduct comprehensive and prospective studies to find new molecules to fill the gap in this area.
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A urticária é uma doença com comprometimento universal, e debilitante para a maioria dos pacientes. Caracteriza-se pela ocorrência de episódios de urticas, angioedema ou ambos, determinados pela ativação de mastócitos e outras células inflamatórias com a liberação de vários mediadores. Apresenta etiologia complexa com fenótipos e terapias bem específicas. A urticária crônica possui evolução recorrente e imprevisível, podendo estender-se por anos. Caracteristicamente possui maior prevalência no sexo feminino, com pico de ocorrência entre 20 e 40 anos. A doença pode ser diferenciada pela gravidade, impacto na qualidade de vida do paciente e resposta terapêutica. Biomarcador é uma característica clínica ou laboratorial mensurável de algum estado ou condição biológica, o qual pode influenciar ou prever a incidência de desfecho ou doença. O objetivo deste artigo é realizar uma revisão dos principais biomarcadores promissores e com melhor evidência relacionados à duração, atividade da doença e resposta terapêutica.
Urticaria is a disease of global importance that can be debilitating for most patients. It is characterized by episodes of wheals, angioedema, or both, determined by the activation of mast cells and other inflammatory cells with the release of several mediators. The etiology is complex, involving specific phenotypes and therapies. Chronic urticaria has a recurrent and unpredictable course that can last for years. The prevalence is typically higher in females, with a peak incidence between 20 and 40 years of age. The disease can be classified by severity, impact on quality of life, and therapeutic response. A biomarker is a measurable clinical or laboratory characteristic of a biological state or condition that can influence or predict the incidence of outcome or disease. This study provides a review of the main biomarkers considered promising and with the best evidence related to duration, disease activity, and therapeutic response.
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Humans , Cyclosporine , PubMed , Omalizumab , LILACS , Histamine AntagonistsABSTRACT
Los trastornos autoinmunes representan una familia de al menos 80 condiciones diferentes que surgen de una respuesta aberrante del sistema inmunológico resultando finalmente en la destrucción de tejidos y órganos específicos del cuerpo. Es importante destacar que durante las últimas tres décadas los estudios epidemiológicos han proporcionado evidencia de un aumento constante en la incidencia y prevalencia de trastornos autoinmunes. En los últimos años, varios estudios han demostrado que la vitamina D y los ácidos grasos poliinsaturados (AGPs) omega-3 ejercen propiedades inmunomoduladoras y antiinflamatorias sinérgicas que pueden aprovecharse positivamente para la prevención y el tratamiento de trastornos autoinmunes. En este sentido, el reciente ensayo clínico denominado VITAL (ensayo de vitamina D y omega 3); un estudio a gran escala, aleatorizado, doble ciego, controlado con placebo encontró que la suplementación conjunta de vitamina D y AGPs omega-3 (VIDOM) puede reducir la incidencia de enfermedades autoinmunes. En esta revisión de la literatura, resumimos los mecanismos moleculares detrás de las propiedades inmunomoduladoras y antiinflamatorias de la vitamina D y los AGPs omega-3, así como la posible interacción bidireccional entre el metabolismo de la vitamina D y el metabolismo de los AGPs omega-3 que justifica la co- suplementación VIDOM en trastornos autoinmunes(AU)
Autoimmune disorders represent a family of at least 80 different conditions that arise from an aberrant immune system response, which ultimately results in the destruction of specific body tissues and organs. It is important to highlight that during the last three decades epidemiological studies have provided evidence of a steady increase in the incidence and prevalence of autoimmune disorders. In recent years, several studies have shown that vitamin D and omega-3 polyunsaturated fatty acids (PUFAs) exert synergistic immunomodulatory and anti-inflammatory properties that can be positively harnessed for the prevention and treatment of autoimmune disorders. In this sense, the recent clinical trial called VITAL (Vitamin D and Omega 3 trial) - a large, randomized, double-blind, placebo- controlled study - found that co-supplementation of vitamin D and omega-3 PUFAs (VIDOM) can reduce the incidence of autoimmune diseases. In this literature review, we summarize the molecular mechanisms behind the immunomodulatory and anti-inflammatory properties of vitamin D and omega-3 PUFAs, as well as the possible bidirectional interaction between vitamin D metabolism and omega-3 PUFA metabolism that justifies VIDOM co- supplementation in autoimmune disorders(AU)
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Autoimmune Diseases , Vitamin D , Fatty Acids, Omega-3 , Epidemiology , ImmunomodulationABSTRACT
En la Diabetes tipo 1 (DM1) la pérdida de células ß pancreáticas es consecuencia de un proceso de autoinmunidad que cursa con la presencia de autoanticuerpos anti-islotes pancreáticos (AAPs). Estos AAPs son marcadores útiles para la clasificación de la enfermedad. En un centro pediátrico de tercer nivel se analizó la frecuencia de presentación de GADA, IA-2A, ZnT8A e IAA en un grupo con reciente debut entre enero 2018 y agosto 2021 (n= 90). Además, se investigó la frecuencia de presentación y relación de los AAPs con la edad, sexo y tiempo de evolución en pacientes en seguimiento (n= 240). En el grupo de debut se obtuvo positividad de GADA, IA-2A, ZnT8A y IAA en 77,8; 60; 62 y 47,8% de los pacientes respectivamente, un 4% no presentó AAPs. El 95,6% de los pacientes presentaron al menos un AAPs positivo. La frecuencia de IAA en el grupo en debut fue mayor en menores de 5 años. En el grupo en seguimiento el 75,2% resultaron GADA positivo (85,7% en mujeres y 62,8% en varones) p<0,05. IA-2A y ZnT8A fueron positivos en 45 y 51.7% respectivamente. El 91% presentaron al menos un AAP positivo. En este grupo se evidenció una menor positividad en función del tiempo de evolución. Se pudo determinar la frecuencia de presentación de los AAPs en un grupo en debut y la relación con la edad, sexo y tiempo de evolución en pacientes en seguimiento. La determinación de APPs facilita la correcta clasificación y elección de la terapia adecuada (AU)
In type 1 diabetes (DM1) the loss of pancreatic ß-cells is a consequence of an autoimmune process that results in the presence of pancreatic anti-islet autoantibodies (PAAs). PAAs are useful markers for the classification of the disease. The frequency of presentation of GADA, IA-2A, ZnT8A, and IAA in a group with recent debut seen between January 2018 and August 2021 (n= 90) was analyzed in a tertiary pediatric center. In addition, we investigated the frequency of presentation and association of PAAs with age, sex, and time of evolution in patients in follow-up (n= 240). In the debut group, GADA, IA2A, ZnT8A, and IAA positivity was found in 77.8, 60, 62, and 47.8% of patients, respectively; no PAAs were observed in 4% of the patients. Overall, 95.6% presented at least one positive PAA. The frequency of IAA in the debut group was higher in children younger than 5 years. In the follow-up group, 75.2% were GADA positive (85.7% of females and 62.8% of males) p<0.05. IA-2A and ZnT8A were positive in 45 and 51.7% respectively. Ninety-one percent presented with at least one positive PAA. In this group, a lower positivity was evidenced as a function of the time of evolution. The frequency of presentation of PAAs in a debut group and the relationship with age, sex, and time of evolution in patients in follow-up was demonstrated. The assessment of PAAs facilitates the correct classification and choice of adequate therapy (AU)
Subject(s)
Humans , Infant , Child, Preschool , Child , Adolescent , Autoantibodies , Diabetes Mellitus, Type 1/classification , Diabetes Mellitus, Type 1/diagnosis , Diabetes Mellitus, Type 1/blood , Insulin-Secreting Cells , Autoimmune Diseases , Cross-Sectional Studies , Retrospective Studies , Glutamate DecarboxylaseABSTRACT
Las pruebas de función tiroidea (PFT) son esenciales para el diagnóstico preciso y el seguimiento eficaz de la disfunción tiroidea. Existe un incremento progresivo y estable de los pedidos de PFT, incluso se han incorporado las mismas a los exámenes de salud anuales en niños sanos. Representan más del 60% de las pruebas realizadas en el laboratorio de endocrinología, tanto en adultos como en los laboratorios especializados en pediatría. Para hacer un uso eficiente de las PFT, antes de solicitarlas debemos preguntarnos ¿Para quién? ¿Cuándo solicitarlas? ¿Qué pruebas solicitar? ¿Cómo solicitarlas? y ¿Cómo interpretar correctamente los resultados? Un resultado anormal en las PFT no siempre implica patología tiroidea asociada. Las PFT tienen importante variabilidad intra e interindividual lo que hace más compleja su correcta interpretación. La pesquisa de enfermedad tiroidea neonatal es un importante aporte a la prevención de la deficiencia mental en la infancia, su aplicación obligatoria posibilita un diagnóstico temprano, para asegurar su éxito debe considerarse en el marco de un programa integral de detección con estrategias de confirmación, tratamiento temprano y seguimiento a corto, mediano y largo plazo. No debe hacerse un uso indiscriminado de la prueba de estímulo con TRH en el diagnóstico de la patología tiroidea. En pediatría la estrategia de tamiz de enfermedad tiroidea es conveniente realizarla mediante la medición de por lo menos TSH y T4 libre e incluir la determinación de ATPO en grupos de riesgo, a diferencia de la determinación aislada de TSH como es recomendado en adultos. (AU)
Thyroid function tests (TFTs) are essential for accurate diagnosis and effective monitoring of thyroid dysfunction. There is a progressive and steady increase in requests for TFTs, and they have even been incorporated into annual health examinations in healthy children. They represent more than 60% of the tests performed in the endocrinology laboratory, both in adults and in specialized pediatric laboratories. To efficiently use TFTs, before requesting them we should ask ourselves... For whom? When to request them? Which tests to request? How to request them? and How to correctly interpret the results? An abnormal TFT result does not always imply thyroid disease. TFTs have significant intra- and inter-individual variability, which makes their correct interpretation more complex. Screening for newborn thyroid disease is an important contribution to the prevention of intellectual disability in childhood and its mandatory use enables early diagnosis; however, to ensure the test to be successful, it should be considered within the framework of a comprehensive screening program with strategies for confirmation, early treatment, and short-, medium-, and long-term follow-up. The TRH stimulation test in the diagnosis of thyroid disease should not be used indiscriminately. In children, the screening strategy for thyroid disease should be performed by measuring at least TSH and free T4 and include the measurement of TPO-ab in risk groups, as opposed to the isolated measurement of TSH as recommended in adults. (AU)
Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Autoimmune Diseases/diagnosis , Thyroid Function Tests/trends , Thyroid Function Tests/statistics & numerical data , Thyrotropin/blood , Diagnostic Techniques, Endocrine/trends , Hyperthyroidism/diagnosis , Hypothyroidism/diagnosis , Unnecessary ProceduresABSTRACT
En la actualidad existe un gran número personas diagnoticadas con SARS-CoV-2, llamando la atención la aparición de algunas enfermedades de origen autoinmunes post exposición a esta infección. Se cree que su asociación está dada por mecanismos que incluyen el mimetismo molecular, los autoanticuerpos y la estimulación de la señalización inflamatoria. Objetivo. Identificar la relación entre COVID-19 con el desarrollo de enfermedades autoinmunes. Metodología. Se realizó una revisión sistemática de la literatura, donde, se utilizó buscadores científicos en la siguiente base de datos: Pubmed, Cocharne, Scielo y Science Direct. La búsqueda de información estuvo comprendida entre 2020 al 2022, se utilizaron palabras claves y algoritmo de búsqueda con la combinación de términos: "COVID-19", "enfermedades autoinmunes", "autoinmunidad", además de esto se utilizaron operadores booleanos "And", "Or" y "Not" con la finalidad de obtener mejores resultados en la brusquedad. Conclusión. Los principales mecanismos involucrados en el desarrollo de autoinmunidad posterior a la infección por SARS-CoV-2 incluye el mimetismo molecular, la presencia de autoanticuerpos y la tormenta de citoquinas propias de la infección por COVID-19. Las enfermedades de carácter autoinmune con las que se estableció relación directa: Síndrome de Guillan-Barré, Encefalitis autoinmune, Enfermedad de Graves, Tiroiditis de Hashimoto, Purpura trombocitopenica autoinmune y Vasculitis, además también se consideró la Enfermedad similar a Kawasaki - like, Lupus Eritematoso Sistémico, mismas que aún necesitan de más estudios para establecer con exactitud su mecanismo de acciones con relación a la infección de SARS-CoV-2.
Currently there are a large number of people diagnosed with SARS-CoV-2, drawing attention to the appearance of some diseases of autoimmune origin after exposure to this infection. It is believed that their association is given by mechanisms that include molecular mimicry, autoantibodies and stimulation of inflammatory signaling. Objective. To identify the relationship between COVID-19 and the development of autoimmune diseases. Methodology. A systematic review of the literature was carried out, using scientific search engines in the following database: Pubmed, Cocharne, Scielo and Science Direct. The information search was carried out from 2020 to 2022, using keywords and search algorithm with the combination of terms: "COVID-19", "autoimmune diseases", "autoimmunity", in addition to this, Boolean operators "And", "Or" and "Not" were used in order to obtain better results in the abruptness. Conclusion. The main mechanisms involved in the development of autoimmunity following SARS-CoV-2 infection include molecular mimicry, the presence of autoantibodies and the cytokine storm characteristic of COVID-19 infection. The autoimmune diseases with which a direct relationship was established are: Guillan-Barre syndrome, autoimmune encephalitis, Graves' disease, Hashimoto's thyroiditis, autoimmune thrombocytopenic purpura and vasculitis, in addition to Kawasaki-like disease, systemic lupus erythematosus, which still need further studies to establish their exact mechanism of action in relation to SARS-CoV-2 infection.
Atualmente, há um grande número de pessoas diagnosticadas com SARS-CoV-2, o que chama a atenção para o surgimento de algumas doenças autoimunes após a exposição a essa infecção. Acredita-se que sua associação se deva a mecanismos que incluem mimetismo molecular, autoanticorpos e estimulação da sinalização inflamatória. Objetivo. Identificar a relação entre a COVID-19 e o desenvolvimento de doenças autoimunes. Metodologia. Foi realizada uma revisão sistemática da literatura, usando mecanismos de busca científica no seguinte banco de dados: Pubmed, Cocharne, Scielo e Science Direct. A busca de informações foi realizada entre 2020 e 2022, foram utilizadas palavras-chave e algoritmo de busca com a combinação dos termos: "COVID-19", "autoimmune diseases", "autoimmunity", e também foram utilizados os operadores booleanos "And", "Or" e "Not" para obter melhores resultados na rapidez. Conclusão. Os principais mecanismos envolvidos no desenvolvimento da autoimunidade após a infecção por SARS-CoV-2 incluem mimetismo molecular, a presença de autoanticorpos e a tempestade de citocinas da infecção por COVID-19. As doenças autoimunes com as quais foi estabelecida uma relação direta são: síndrome de Guillan-Barré, encefalite autoimune, doença de Graves, tireoidite de Hashimoto, púrpura trombocitopênica autoimune e vasculite, bem como doença semelhante à Kawasaki, lúpus eritematoso sistêmico, que ainda precisam de mais estudos para estabelecer seu mecanismo exato de ação em relação à infecção por SARS-CoV-2.
ABSTRACT
Case description: A 42-year-old woman with severe pulmonary and mediastinal inflammatory involvement, secondary to infiltration of a silicone-related allogenic material with systemic migration. Clinical findings: The patient developed esophageal and bronchial stenosis, recurrent infections, malnutrition, and respiratory deterioration, making surgical removal of the allogenic material impossible. Treatment and outcome: Clinical and radiological improvement was achieved after treatment with multiple intravenous and oral immunomodulators. Clinical relevance: Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a heterogeneous disease resulting from exposure to allogenic substances in a susceptible subject. These substances cause autoimmune or autoinflammatory phenomena. Since ASIA was described ten years ago, its diagnostic criteria are still under discussion, with an uncertain prognosis. The ideal therapy is based on eliminating the causative substance, but this is not always possible. Therefore, it is necessary to start an immunomodulatory treatment, using it in this patient, a scheme that had not been previously reported in the literature.
Descripción del caso: Mujer de 42 años con compromiso inflamatorio pulmonar y mediastinal severo, secundario a infiltración de un material alogénico relacionado con la silicona con migración sistémica. Hallazgos clínicos: La paciente desarrolló estenosis esofágica y bronquial, infecciones recurrentes, desnutrición y deterioro respiratorio, imposibilitando la extracción quirúrgica del material alogénico. Tratamiento y resultado: Mejoría clínica y radiológica lograda tras un tratamiento con múltiples inmunomoduladores intravenosos y orales. Relevancia clínica: El síndrome autoinmune / inflamatorio inducido por adyuvantes (ASIA) es una enfermedad heterogénea que resulta de la exposición a sustancias alógenas en un sujeto con susceptibilidad genética. Estas sustancias inducen fenómenos autoinmunitarios o autoinflamatorios. Desde que ASIA fue descrito hace 10 años, sus criterios diagnósticos continúan en discusión, con un pronóstico incierto. El tratamiento idóneo se basa en eliminar la sustancia causante, pero no siempre es posible, por lo cual se hace necesario iniciar un tratamiento inmunomodulador, empleándose en esta paciente un esquema que no había sido reportado previamente en la literatura.
ABSTRACT
As complicações associadas à COVID-19 incluem insuficiência renal, miocardite, eventos trombóticos e retinite. No entanto, outras manifestações, como a artrite reativa, também parecem estar atreladas a este vírus e precisam ser mais bem investigadas. O caso relatado se refere a uma paciente de 32 anos, do sexo feminino, na cidade do Rio de Janeiro (RJ), que desenvolveu um quadro de artrite reativa após 5 dias da manifestação de sintomas gripais. Foram realizados exames laboratoriais, GeneXpert para COVID-19 e punção do líquido sinovial. Observou-se GeneXpert positivo para COVID-19, aumento nos marcadores inflamatórios, marcadores sorológicos de autoimunidade não reagentes e cultura negativa no líquido sinovial. Esses resultados descartam artrite séptica, bem como artrite reumatoide, passando a ser considerado o quadro de artrite pós-infecciosa decorrente do SARS-CoV-2.
Complications associated with COVID-19 include renal failure, myocarditis, thrombotic events, and retinitis. However, other manifestations, such as reactive arthritis, also seem to be associated with infection and require further investigation. We report the case of a 32-year-old woman in Rio de Janeiro, RJ who developed reactive arthritis 5 days after the onset of flulike symptoms. Laboratory tests, GeneXpert for COVID-19, and synovial fluid puncture were performed. Positive GeneXpert results for COVID-19, increased inflammatory markers, non-reactive serological markers of autoimmunity, and negative culture in synovial fluid were observed. These results ruled out both septic arthritis and rheumatoid arthritis, leading to a diagnosis of postinfectious arthritis resulting from SARS-CoV-2.
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Humans , Female , AdultABSTRACT
La esclerosis múltiple (EM) es una enfermedad desmielinizante que afecta el sistema nervioso central. A pesar de los avances en materia de diagnóstico y tratamiento, se desconocen aún muchos aspectos de su etiopatogenia y fisiopatología. La EM es una de las principales causas de discapacidad neurológica y, por los elevados costos de los tratamientos inmunomoduladores e inmunosupresores, tiene un gran impacto económico en la salud pública. Por ello, se intentaron diversos tratamientos preventivos, como la utilización de la vitamina D. Debido a la acción de la vitamina D sobre el sistema inmune, ha sido prescripta en sujetos de riesgo. Sin embargo, hasta el momento actual, los estudios sobre sus efectos no resultaron concluyentes y persisten las dudas acerca de sus posibles beneficios en materia de prevención. El objetivo de la presente revisión bibliográfica es realizar una puesta al día y destacar los aspectos controversiales en relación al uso de la vitamina D como tratamiento preventivo de la esclerosis múltiple. (AU)
Multiple sclerosis (MS) is a demyelinating disease that affects the central nervous system. Despite advances in diagnosis and treatment, many aspects of its etiopathogenesis and pathophysiology remain unknown. MS is one of the main causes of neurological disability and, due to the high costs of modern immunomodulatory and immunosuppressive treatments, it has a great economic impact on public health. Therefore, numerous efforts have been made in the search for preventive treatments. For this reason, various preventive treatments were tried, such as the use of vitamin D. Due to its action on the immune system, it has been used in subjects at ME risk. However, these studies have been inconclusive to date, and its possible benefits in terms of prevention are still being questioned. The objective of this bibliographic review is to update and highlight the controversial aspects in relation to the use of vitamin D as a preventive treatment of multiple sclerosis. (AU)