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1.
Arch. argent. pediatr ; 122(1): e202303031, feb. 2024. ilus, tab
Article in English, Spanish | BINACIS, LILACS | ID: biblio-1525821

ABSTRACT

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.


Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.


Subject(s)
Humans , Female , Child, Preschool , Child , Autoimmune Diseases , Immunologic Deficiency Syndromes/complications , Tartrate-Resistant Acid Phosphatase/genetics
2.
Arq. neuropsiquiatr ; 81(12): 1077-1083, Dec. 2023. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1527904

ABSTRACT

Abstract Sjogren's syndrome (SS) is a complex autoimmune disease characterized by lymphocytic infiltration of salivary and lacrimal glands, resulting in sicca symptoms. Additionally, SS presents with neurological manifestations that significantly impact the nervous system. This review aims to provide a comprehensive overview of the neurological aspects of SSj, covering both the peripheral and central nervous system involvement, while emphasizing diagnosis, treatment, and prognosis.


Resumo A síndrome de Sjogren (SS) é uma doença autoimune complexa caracterizada pela infiltração linfocítica das glândulas salivares e lacrimais, resultando em sintomas sicca. Além disso, a SS apresenta manifestações neurológicas que afetam significativamente o sistema nervoso. Esta revisão tem como objetivo fornecer uma visão abrangente dos aspectos neurológicos da SSj, abordando tanto o envolvimento do sistema nervoso periférico quanto do central, com ênfase no diagnóstico, tratamento e prognóstico.

3.
Arq. neuropsiquiatr ; 81(12): 1125-1133, Dec. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1527907

ABSTRACT

Abstract Precision medicine has revolutionized the field of neuroimmunology, with innovative approaches that characterize diseases based on their biology, deeper understanding of the factors leading to heterogeneity within the same disease, development of targeted therapies, and strategies to tailor therapies to each patient. This review explores the impact of precision medicine on various neuroimmunological conditions, including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), optic neuritis, autoimmune encephalitis, and immune-mediated neuropathies. We discuss advances in disease subtyping, recognition of novel entities, promising biomarkers, and the development of more selective monoclonal antibodies and cutting-edge synthetic cell-based immunotherapies in neuroimmunological disorders. In addition, we analyze the challenges related to affordability and equity in the implementation of these emerging technologies, especially in situations with limited resources.


Resumo A medicina de precisão está revolucionando o campo da neuroimunologia, com uma abordagem inovadora caracterizada pela classificação de doenças com base em sua biologia, compreensão mais profunda dos fatores que levam à heterogeneidade dentro da mesma doença, desenvolvimento de terapias com alvos específicos e estratégias para adaptar as terapias a cada paciente. Esta revisão explora o impacto da medicina de precisão em várias condições neuroimunológicas, incluindo esclerose múltipla (EM), distúrbio do espectro da neuromielite óptica (NMOSD), doença associada ao anticorpo anti-glicoproteína da mielina do oligodendrócito (MOGAD), neurites ópticas, encefalites autoimunes e neuropatias imunomediadas. Discutimos avanços na subclassificação de doenças, reconhecimento de novas entidades, biomarcadores promissores e desenvolvimento de anticorpos monoclonais mais seletivos e imunoterapias de ponta baseadas em células sintéticas para as condições acima. Além disso, analisamos os desafios relacionados com acessibilidade e equidade na implementação dessas tecnologias emergentes, especialmente em ambientes com recursos limitados.

4.
Rev. Finlay ; 13(4)dic. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1550656

ABSTRACT

Fundamento: la artritis reumatoidea es una enfermedad autoinmunitaria crónica que produce daño articular crónico e irreversible que conlleva al deterioro de la calidad de vida y discapacidad permanente con prevalencia mundial de entre 1,0 y 1,5 %. Objetivo: identificar las principales características clínico-epidemiológicas de pacientes con artritis reumatoidea en el Policlínico Docente Área Este de Camagüey. Métodos: se realizó un estudio descriptivo, de serie de casos, realizado en el Policlínico Docente Área Este de Camagüey. Del universo de 108 pacientes fue seleccionada una muestra de 102, una vez aplicados los criterios de elección. Se estudiaron las variables: grupo etáreo, sexo, color de la piel, años de diagnóstico, signos y síntomas clínicos, factores de riesgo; así como complicaciones presentadas. Para el procesamiento de los datos se empleó SPSS y se expresaron en valores absolutos y porcentajes. Resultados: predominó el grupo etáreo de 60 años y más (45,0 %), las mujeres (75,5 %), pacientes de color de piel blanca (66,7 %), con artritis reumatoidea de 16-20 años de evolución (22,5 %), vasculitis (25,5 %) y dolor (94,1 %) dentro de los principales signos y síntomas, mientras el consumo de café (69,6 %) y el sexo femenino se encontraron dentro los factores de riesgo modificables y no modificables. La osteoporosis fue la más notable de las complicaciones presentadas (69,6 %). Conclusiones: en la serie estudiada sobresalió el sexo femenino, la edad avanzada, el dolor como síntoma principal, así como la osteoporosis dentro de las complicaciones presentadas.


Foundation: rheumatoid arthritis is a chronic autoimmune disease that produces chronic and irreversible joint damage that leads to deterioration in quality of life and permanent disability with a worldwide prevalence of between 1.0 and 1.5 %. Objective: to identify the main clinical-epidemiological characteristics of patients with rheumatoid arthritis in the Eastern Area Teaching Polyclinic of Camagüey. Methods: a descriptive case series study was carried out at the Eastern Area Teaching Polyclinic of Camagüey. From the universe of 108 patients, a sample of 102 was selected, once the selection criteria were applied. The variables were studied: age group, sex, skin color, years of diagnosis, clinical signs and symptoms, risk factors; as well as complications presented. SPSS was used to process the data and they were expressed in absolute values ​​and percentages. Results: the age group of 60 years and older predominated (45.0 %), women (75.5 %), patients of white skin color (66.7 %), with rheumatoid arthritis of 16-20 years of evolution (22.5 %), vasculitis (25.5 %) and pain (94.1 %) among the main signs and symptoms, while coffee consumption (69.6 %) and female sex were found among the risk factors. modifiable and non-modifiable risk. Osteoporosis was the most notable of the complications presented (69.6 %). Conclusions: in the series studied, female sex, advanced age, pain as the main symptom, as well as osteoporosis stood out among the complications presented.

5.
Rev. bras. cir. plást ; 38(4): 1-8, out.dez.2023. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1525493

ABSTRACT

Introdução: Diversos estudos têm analisado a possível relação entre a prótese mamária de silicone e sintomas sistêmicos. A remoção das próteses de mama com capsulectomia tem sido indicada na tentativa de melhorar esses sintomas. É necessário que o cirurgião tenha dados embasados na literatura para informar ao paciente se há relação entre retirada de prótese de mama com capsulectomia e melhora dos sintomas, qual a taxa de melhora e por quanto tempo se mantém. Método: Foi realizada pesquisa nos bancos de dados virtuais Cochrane Library e PubMed de janeiro de 1990 até abril de 2023. A busca foi realizada pela combinação de termos livres ("breast implant illness", "breast capsulectomy" e "breast implant explantation") e pelo uso de operadores booleanos para descritores Mesh como [autoimmune diseases (MeSH Terms)] e [breast implant (MeSH Terms)]. Resultados: Foram obtidos 1.203 artigos, sendo 14 selecionados para o estudo, consistindo em 7 artigos de coorte retrospectivo, 3 de coorte prospectivo e 4 caso-controle. A taxa de melhora variou entre 50 e 100% dos casos e o tempo de acompanhamento variou entre 2 meses e 2,7 anos. Diversos tipos de capsulectomia foram realizados nos estudos, com taxas semelhantes de melhora. Conclusão: Há evidências de melhora dos sintomas sistêmicos em pacientes com prótese mamária de silicone submetidas a retirada de prótese de mama com capsulectomia. A melhora dos sintomas persistiu durante o período em que as pacientes foram acompanhadas nos estudos. Estudos mais recentes demonstraram que o tipo de capsulectomia não tem influência na melhora dos sintomas sistêmicos.


Introduction: Several studies have analyzed the possible relationship between silicone breast implants and systemic symptoms. Removal of breast implants with capsulectomy has been indicated in an attempt to improve these symptoms. The surgeon must have data based on the literature to inform the patient whether there is a relationship between the removal of a breast prosthesis with capsulectomy and improvement in symptoms, what is the rate of improvement, and how long it lasts. Method: A search was carried out in the Cochrane Library and PubMed virtual databases from January 1990 to April 2023. The search was carried out using a combination of free terms ("breast implant illness", "breast capsulectomy," and "breast implant explantation") and by using Boolean operators for Mesh descriptors such as [autoimmune diseases (MeSH Terms)] and [breast implant (MeSH Terms)]. Results: 1,203 articles were obtained, 14 of which were selected for the study, consisting of 7 retrospective cohort articles, 3 prospective cohort articles, and 4 case-control articles. The improvement rate varied between 50 and 100% of cases, and the follow-up time varied between 2 months and 2.7 years. Several types of capsulectomies were performed in the studies, with similar rates of improvement. Conclusion: There is evidence of improvement in systemic symptoms in patients with silicone breast implants who underwent breast implant removal with capsulectomy. The improvement in symptoms persisted during the period in which the patients were followed in the studies. More recent studies have demonstrated that the type of capsulectomy does not influence the improvement of systemic symptoms.

6.
Indian J Pathol Microbiol ; 2023 Sept; 66(3): 545-548
Article | IMSEAR | ID: sea-223474

ABSTRACT

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. HLA class II alleles are critical to immune response and are highly polymorphic. Various alleles in HLA-DR and -DQ regions were analyzed in SLE patients and healthy controls to see their role in susceptibility or protection to SLE. Materials and Methods: This was a prospective observational study, in which a total of 100 SLE patients and 100 controls were analyzed. HLA typing was done by polymerase chain reaction (PCR)-sequence-specific oligonucleotide (SSO) method (SSO probe). Results: DR?1*0301 was significantly increased in SLE patients when compared to controls and had the highest odds ratio. Other risk factor alleles found to be increased were DR?1*0701, DQ?1*0202, and DQ?1*0301, which had a significant positive association with SLE, suggesting their role in susceptibility to SLE. In contrast, DR?1*0401, DR?1*1401, DR?1*1404, DR?1*1501, DQ?1*0501, and DQ?1*0201 showed statistically significant reduction in SLE patients, while these were much more common in controls, suggesting their protective role. Conclusion: This study is only the second study in patients from North India and it determines the role of DR?1*0301, DR?1*0701, DQ?1*0202, and DQ?1*0301 alleles as risk factors in SLE patients.

7.
ARS med. (Santiago, En línea) ; 48(4): 49-53, dic. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1527568

ABSTRACT

El síndrome de Sjögren (SS) es una enfermedad autoinmune que afecta a las glándulas salivales y lagrimales. Se expone el caso clínico de una paciente de 67 años de género femenino que consulta por dolor en múltiples dientes; relata sensación de boca seca (xerostomía) y sequedad ocular (xeroftalmia). Al examen intraoral, se observan múltiples caries en superficies atípicas, mucosas secas, saliva espumosa y notoria depapilación lingual. Se sospecha de SS, derivando a medicina interna y confirmándose el diagnóstico. En paralelo, se inicia el tratamiento odontológico, realizando adaptaciones en los procedimientos para aliviar la sintomatología del SS, especialmente durante tratamientos endodónticos.


Sjögren's syndrome (SS) is an autoimmune disease that affects the salivary and lacrimal glands. The clinical case of a 67-year-old female patient who consulted for pain in multiple teeth is exposed. Additionally, she reports a sensation of dry mouth (xerostomia) and dry eyes (xerophthalmia). During the intraoral examination, the following findings are noticed: multiple cavities on atypical surfaces, dry mucous membranes, foamy saliva, and atrophic glossitis. SS is suspected, referring to internal medicine and confirming the diagnosis. In parallel, dental treatment is initiated, making adaptations in the procedures to alleviate the symptoms of SS, especially during endodontic treatments.

8.
An. bras. dermatol ; 98(3): 355-372, May-June 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439200

ABSTRACT

Abstract Cutaneous lupus erythematosus is an autoimmune disease of varied clinical expression, which may present as an exclusively cutaneous disease or be one of the multiple manifestations of systemic lupus erythematosus. Its classification includes acute, subacute, intermittent, chronic and bullous subtypes, which are usually identified based on clinical features and histopathological and laboratory findings. Other non-specific cutaneous manifestations may be associated with systemic lupus erythematosus and are usually related to disease activity. Environmental, genetic and immunological factors play a role in the pathogenesis of skin lesions in lupus erythematosus. Recently, considerable progress has been made in elucidating the mechanisms involved in their development, which allows for foreseeing future targets for more effective treatments. This review proposes to discuss the main etiopathogenic, clinical, diagnostic and therapeutic aspects of cutaneous lupus erythematosus, aiming to update internists and specialists from different areas.

9.
Rev. bras. cir. plást ; 38(2): 1-7, abr.jun.2023. ilus
Article in English, Portuguese | LILACS-Express | LILACS | ID: biblio-1443501

ABSTRACT

Adjuvant-induced autoimmune/inflammatory syndrome leads to capsular contracture and fibrosis from the oxidation that takes place in silicone. Anaplastic large cell lymphoma occurs through the development of a seroma, with the formation of a periprosthetic effusion, or through the infiltration of the condition itself. To analyze these conditions, a review of the literature was carried out on the symptoms and pathophysiology of the autoimmune/inflammatory syndrome induced by adjuvants and anaplastic large cell lymphoma, searched using the terms "ASIA breast silicone," "Lymphoma," "Adjuvants" "Immunologic" " Breast Implants" on the PubMed platform. Analyzing the data obtained, it was noted that the symptoms of the autoimmune/inflammatory syndrome induced by adjuvants are nonspecific, such as fatigue, myalgia, arthralgia, morning stiffness, and night sweats, and therefore need attention. Anaplastic large cell lymphoma presents with breast pain, periprosthetic effusion, and palpable mass, among other characteristics. Because of these aspects, it is concluded that a good investigation should be carried out when nonspecific symptoms appear, regardless of the time the surgery was performed since these complications can occur years later.


A síndrome autoimune/inflamatória induzida por adjuvantes leva à contratura capsular e fibrose pela oxidação que acontece no silicone. O linfoma anaplásico de grandes células ocorre através do desenvolvimento de um seroma, com a formação de derrame periprotético ou por uma infiltração da própria afecção. Para análise destes acometimentos, foi realizada uma revisão da literatura acerca da sintomatologia e fisiopatologia da síndrome autoimune/inflamatória induzida por adjuvantes e linfoma anaplásico de grandes células, pesquisada através dos termos "ASIA breast silicone" "Lymphoma" "Adjuvants" "Immunologic" "Breast Implants" na plataforma PubMed. Analisando os dados obtidos, notou-se que os sintomas da síndrome autoimune/inflamatória induzida por adjuvantes são inespecíficos, como fadiga, mialgia, artralgia, rigidez matinal e suores noturnos, e, portanto, necessitam de atenção. Já o linfoma anaplásico de grandes células se apresenta com dor mamária, derrame periprotético, massa palpável, dentre outras características. Em vista destes aspectos, conclui-se que uma boa investigação deve ser realizada ao surgirem sintomas inespecíficos, independentemente do tempo que a cirurgia foi realizada, uma vez que estas complicações podem ocorrer anos após a cirurgia.

10.
J. pediatr. (Rio J.) ; 99(supl.1): S22-S27, Mar.-Apr. 2023.
Article in English | LILACS-Express | LILACS | ID: biblio-1430721

ABSTRACT

Abstract Objectives: Since the beginning of its use for the prevention of tuberculosis (TB) in 1921, other uses of BCG (Bacillus Calmette-Guérin) have been proposed, particularly in the treatment of malignant solid tumors, multiple sclerosis, and other autoimmune diseases. Its beneficial impact on other infections, by nontuberculous mycobacteria, and by viruses, has been more often studied in recent years, especially after the introduction of the concept of trained immunity. The present study's objective was to review the possible indications of BCG and the immunological rationale for these indications. Data source: Non-systematic review carried out in the PubMed, SciELO and Google Scholar databases, using the following search terms: "BCG" and "history", "efficacy", "use", "cancer", "trained immunity", "other infections", "autoimmune diseases". Data synthesis: There is epidemiological evidence that BCG can reduce overall child morbidity/mortality beyond what would be expected from TB control. BCG is able to promote cross-immunity with nontuberculous mycobacteria and other bacteria. BCG promotes in vitro changes that increase innate immune response to other infections, mainly viral ones, through mechanisms known as trained immunity. Effects on cancer, except bladder cancer, and on autoimmune and allergic diseases are debatable. Conclusions: Despite evidence obtained from in vitro studies, and some epidemiological and clinical evidence, more robust evidence of in vivo efficacy is still needed to justify the use of BCG in clinical practice, in addition to what is recommended by the National Immunization Program for TB prevention and bladder cancer treatment.

11.
Vive (El Alto) ; 6(16): 142-153, abr. 2023.
Article in Spanish | LILACS | ID: biblio-1442264

ABSTRACT

La microbiota intestinal es la colección de microorganismos que habitan el sistema gastrointestinal de un ser humano. Estos microorganismos incluyen bacterias, virus, hongos y otros patógenos. La microbiota intestinal juega un papel importante en la salud general del cuerpo, ya que puede influir en el sistema inmune, la digestión y la absorción de nutrientes, y la producción de ciertas vitaminas. Objetivo. Determinar la relación entre la microbiota intestinal y enfermedades autoinmunes donde los microorganismos de la flora juegan un papel fundamental en la regulación de los diferentes mecanismos de defensa. Metodología. Se realizó una revisión sistemática, fue recopilada y clasificada la información usando el protocolo PRISMA, con la relación de la microbiota intestinal con enfermedades autoinmunes, cuyo algoritmo de búsqueda: (Relationship) and (intestinal) and (microbiota) and (autoimmune) and (diseases) entre los años 2017-2022. Finalmente, se encontraron 167 artículos. Conclusión. La microbiota intestinal puede tener una relación importante con el desarrollo y la progresión de algunas enfermedades autoinmunes, y el tratamiento con probióticos y prebióticos puede tener un efecto beneficioso en el curso de estas enfermedades, donde los microorganismos de la flora intestinal pueden desempeñar un papel crucial en la regulación del sistema inmune del cuerpo.


The intestinal microbiota is the collection of microorganisms that inhabit the gastrointestinal system of a human being. These microorganisms include bacteria, viruses, fungi and other pathogens. The gut microbiota plays an important role in the overall health of the body, as it can influence the immune system, digestion and absorption of nutrients, and the production of certain vitamins. Objective. To determine the relationship between the intestinal microbiota and autoimmune diseases where the microorganisms of the flora play a fundamental role in the regulation of the different defense mechanisms. Methodology. A systematic review was performed, information was collected and classified using the PRISMA protocol, with the relationship of intestinal microbiota with autoimmune diseases, whose search algorithm: (Relationship) and (intestinal) and (microbiota) and (autoimmune) and (diseases) between the years 2017-2022. Finally, 167 articles were found. Conclusion. Gut microbiota may have an important relationship with the development and progression of some autoimmune diseases, and treatment with probiotics and prebiotics may have a beneficial effect on the course of these diseases, where gut flora microorganisms may play a crucial role in regulating the body's immune system.


A microbiota intestinal é o conjunto de microrganismos que habitam o sistema gastrointestinal de um ser humano. Esses microrganismos incluem bactérias, vírus, fungos e outros agentes patogênicos. A microbiota intestinal desempenha um papel importante na saúde geral do corpo, pois pode influenciar o sistema imunológico, a digestão e a absorção de nutrientes e a produção de determinadas vitaminas. Objetivo. Determinar a relação entre a microbiota intestinal e as doenças autoimunes, nas quais os microrganismos da flora desempenham um papel fundamental na regulação dos diferentes mecanismos de defesa. Metodologia. Foi realizada uma revisão sistemática, as informações foram coletadas e classificadas utilizando o protocolo PRISMA, com a relação da microbiota intestinal com doenças autoimunes, cujo algoritmo de busca: (Relationship) and (intestinal) and (microbiota) and (autoimmune) and (diseases) entre os anos de 2017-2022. Ao final, foram encontrados 167 artigos. Conclusões. A microbiota intestinal pode ter uma relação importante com o desenvolvimento e a progressão de algumas doenças autoimunes, e o tratamento com probióticos e prebióticos pode ter um efeito benéfico no curso dessas doenças, em que os microrganismos da flora intestinal podem desempenhar um papel crucial na regulação do sistema imunológico do corpo.


Subject(s)
Systematic Review
12.
Medwave ; 23(3): e2663, 28-04-2023.
Article in English, Spanish | LILACS-Express | LILACS | ID: biblio-1436097

ABSTRACT

Introducción El síndrome de Guillain-Barré es una polirradiculoneuropatia de origen autoinmune, considerada la causa más frecuente de parálisis flácida aguda. Se han reportado diversas asociaciones del síndrome de Guillain-Barré con otras enfermedades autoinmunes no neurológicas, algunas de ellas extremadamente raras, como la que ocurre con la colangitis biliar primaria, una enfermedad crónica de etiología autoinmune cuyo diagnóstico se sustenta, además del cuadro clínico, en la alteración de las enzimas hepáticas y la presencia de anticuerpos anti-mitocondriales. Caso clínico Paciente varón de 38 años, sin antecedente de comorbilidades previas, quien luego de presentar enfermedad diarreica dos semanas antes, desarrolló debilidad ascendente de inicio subagudo asociado a parestesias en cuatro extremidades que progresó hasta generar cuadriplejia y dificultad respiratoria. Se le realizó examen citoquímico de líquido cefalorraquídeo que evidenció disociación albumino-citológica y electromiografía que mostró hallazgos compatibles con neuropatía axonal motora aguda. Recibió tratamiento con inmunoglobulina intravenosa a dosis de 0,4 gramos por kilogramo al día, logrando mejoría del cuadro neurológico. Desde su ingreso y durante la hospitalización, presentó alteración persistente de las enzimas hepáticas que seguía un patrón colestásico. Además, se agregó dolor abdominal de leve intensidad y prurito generalizado, por lo cual fue evaluado por gastroenterología, quienes solicitaron anticuerpos anti-mitocondriales que resultaron positivos. Con esta prueba, se comprobó el diagnóstico de colangitis biliar primaria. Conclusión El presente caso muestra una asociación extremadamente rara de dos enfermedades autoinmunes; síndrome de Guillain-Barré y colangitis biliar primaria, tanto así que representa el primer caso reportado, no vinculado a SARS-CoV-2.


Introduction Guillain-Barré syndrome is a polyradiculoneuropathy of autoimmune origin, considered the most frequent cause of acute flaccid paralysis. Various associations of Guillain-Barré syndrome with other non-neurological autoimmune diseases have been reported, some of them extremely rare, such as that which occurs with primary biliary cholangitis, a chronic disease of autoimmune etiology whose diagnosis is also supported by the clinical picture. , in the alteration of liver enzymes and the presence of anti-mitochondrial antibodies. Clinical case A 38-year-old male patient, with no history of previous comorbidities, who, after presenting with diarrheal disease two weeks prior, developed subacute onset ascending weakness associated with paresthesias in four extremities that progressed to quadriplegia and respiratory distress. Cerebrospinal fluid cytochemistry was performed, which showed albuminocytological dissociation and electromyography, which showed findings compatible with acute motor axonal neuropathy, for which he received treatment with intravenous immunoglobulin at 0.4g/kg/day, achieving improvement in the neurological condition. Since admission and during hospitalization, he presented persistent changes in liver enzymes which followed a cholestatic pattern, in addition to mild abdominal pain and generalized itching, for which he was evaluated by gastroenterology, who requested anti-mitochondrial antibodies that were positive. Concluding in the diagnosis of primary biliary cholangitis. Conclusion The present case shows an extremely rare association of two autoimmune diseases Guillain-Barré syndrome and primary biliary cholangitis, so much so that it represents the first case reported, not linked to SARS-CoV-2.

13.
Vive (El Alto) ; 6(16): 205-219, abr. 2023.
Article in Spanish | LILACS | ID: biblio-1442254

ABSTRACT

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.

14.
Arq. neuropsiquiatr ; 81(3): 296-307, Mar. 2023. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439437

ABSTRACT

Abstract Plasma exchange (PLEX) is a therapeutic apheresis modality in which the plasma is separated from inflammatory factors such as circulating autoreactive immunoglobulins, the complement system, and cytokines, and its therapeutic effect is based on the removal of these mediators of pathological processes. Plasma exchange is well established for various neurological disorders, and it is applied successfully in central nervous system inflammatory demyelinating diseases (CNS-IDD). It mainly modulates the humoral immune system; thus, it has a greater theoretical effect in diseases with prominent humoral mechanisms, such as neuromyelitis optica (NMO). However, it also has a proven therapeutic effect in multiple sclerosis (MS) attacks. Several studies have suggested that patients with severe attacks of CNS-IDD have poor response to steroid therapy but show clinical improvement after the PLEX treatment. Currently, PLEX is generally established only as a rescue therapy for steroid unresponsive relapses. However, there are still research gaps in the literature regarding plasma volume, number of sessions, and how early the apheresis treatment needs to started. Thus, in the present article, we summarize the clinical studies and meta-analyses, especially about MS and NMO, outlining clinical data regarding the experience with therapeutic PLEX in severe attacks of CNS-IDD, the clinical improvement rates, the prognostic factors of a favorable response, and highlighting the likely role of the early apheresis treatment. Further, we have gathered this evidence and suggested a protocol for the treatment of CNS-IDD with PLEX in the routine clinical practice.


Resumo Plasmaférese (PLEX) é um procedimento em que o plasma é separado de fatores inflamatórios como imunoglobulinas autorreativas circulantes, sistema complemento e citocinas, e seu efeito terapêutico se baseia na remoção desses mediadores de processos patológicos. A PLEX está bem estabelecida no tratamento de diversos distúrbios neurológicos, e é utilizada com sucesso em surtos de doenças desmielinizantes inflamatórias do sistema nervoso central (CNS-IDD). A PLEX modula principalmente o sistema imunológico humoral; assim, tem efeito teórico maior em doenças com mecanismos patológicos humorais proeminentes, como a neuromielite óptica (NMO). No entanto tem também efeito terapêutico comprovado em surtos de esclerose múltipla (EM). Estudos sugerem que a corticoterapia é pouco eficaz em pacientes com surtos graves de CNS-IDD, e que estes apresentam melhora clínica após o tratamento com PLEX. Atualmente, a PLEX está geralmente estabelecida apenas como terapia de resgate para surtos não responsivos a corticosteroides. No entanto, há lacunas na literatura sobre a quantidade de troca de volume plasmático, o número de sessões, e o tempo de início da aférese terapêutica. Dessa forma, resumimos neste artigo estudos clínicos e metanálises, especialmente sobre EM e NMO, e delineamos os dados clínicos sobre a experiência com o uso de PLEX em surtos graves de CNS-IDD, as taxas de melhora clínica, os fatores prognósticos para uma resposta favorável, e destacamos o provável papel do tratamento precoce nestes casos. Em um segundo momento, reunimos essas evidências em uma sugestão de protocolo de tratamento de CNS-IDD com PLEX na prática clínica rotineira.

15.
Arq. Asma, Alerg. Imunol ; 7(1): 123-126, 20230300. ilus
Article in English | LILACS | ID: biblio-1509647

ABSTRACT

Autoimmune diseases have been progressively recognized as a potential complication of primary immunodeficiency, especially for some genetic subtypes of common variable immunodeficiency. Although often associated with other autoimmune disorders, autoimmune myasthenia gravis is occasionally identified as a neuromuscular complication of primary immunodeficiency. We report the case of a Brazilian woman with common variable immunodeficiency-8 due to an LRBA variant, in which myasthenia gravis was identified in association with anti-acetylcholine receptor antibody. Marked clinical improvement occurred after intravenous immunoglobulin therapy.


Doenças autoimunes foram progressivamente reconhecidas como complicações potenciais das imunodeficiências primárias, especialmente para alguns subtipos genéticos das imunodeficiências comuns variáveis. Embora se associe comumente a outras doenças autoimunes, a Miastenia gravis autoimune adquirida foi raramente associada como complicação neuromuscular de imunodeficiências primárias. É descrito neste artigo o caso de paciente brasileira do sexo feminino com diagnóstico de Imunodeficiência Comum Variável tipo 8 por variante no gene LRBA, na qual foi identificada Miastenia gravis em associação a anticorpos antirreceptor de acetilcolina. Ela evoluiu com marcante melhora clínica após a introdução de terapêutica com imunoglobulina endovenosa.


Subject(s)
Humans , Female , Adult
16.
China Pharmacy ; (12): 2550-2555, 2023.
Article in Chinese | WPRIM | ID: wpr-997018

ABSTRACT

Autoimmune diseases(ADs) are diseases in which the body’s immune tolerance is impaired, causing damage to its tissues. The pro-inflammatory helper T cell 17 (Th17) and anti-inflammatory regulatory T cell (Treg) are functionally antagonistic to each other, and the immune imbalance between them and the imbalance of related inflammatory factors are closely related to the occurrence of a variety of ADs. Plenty of evidence has shown that gut microbiota can regulate Th17/Treg differentiation, rebuild immune tolerance and delay the ADs process through regulating cytokine production, transcription factor expression and energy metabolism. This paper reviews the intervention effects of traditional Chinese medicine(TCM) monomers on the common ADs by regulating Th17/Treg differentiation balance based on intestinal flora: ulcerative colitis,rheumatoid arthritis and diabetes mellitus type 1. It is found that its mechanism of action may be to restore the balance of pro-inflammatory factors and anti-inflammatory factors to alleviate intestinal mucosal barrier damage, reduce synovial angiogenesis and improve pancreatic β cell destruction, which provides some ideas for the prevention and treatment of ADs with integrated traditional Chinese and western medicine.

17.
Chinese Journal of Neurology ; (12): 1051-1054, 2023.
Article in Chinese | WPRIM | ID: wpr-994931

ABSTRACT

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a specific subtype of the stiff-person syndrome, which is rare and difficult to diagnose clinically. A case of PERM in a 66-year-old female with a fluctuating progressive course was reported in this article. She had increased facial muscle tone, pruritus and sensory hypersensitivity mainly in the head and neck, medullary involvement syndrome and bilateral lower limb rigidity as the main clinical manifestations, and a previous history of pulmonary malignancy, thymoma, typeⅠ diabetes and Hashimoto′s thyroiditis. The patient′s serum and cerebrospinal fluid were positive for anti-glutamic acid decarboxylase antibody. The electromyogram showed a large number of motor unit potentials in the trunk and proximal extremities in the quiet state, which were significantly enhanced during spastic episodes, consistent with the electromyographic manifestations of stiff-person syndrome. The final diagnosis was PERM, and immunotherapy including gamma globulin and hormone responded well. PERM is a rare neurological autoimmune disease with atypical early symptoms, which can be easily misdiagnosed, and it requires attention to avoid delaying the diagnosis.

18.
Chinese Journal of Neurology ; (12): 830-836, 2023.
Article in Chinese | WPRIM | ID: wpr-994902

ABSTRACT

Autoimmune diseases of the nervous system are a group of diseases caused by the body′s immune system attacking its own nervous system, resulting in structural damage and functional impairment of the corresponding tissues. Interventional clearance of pathogenic auto-antibodies has been shown to be effective in reducing immune damage, inhibiting disease progression and improving prognosis through extensive basic research and long-term clinical practice. The neonatal Fc receptor (FcRn)-mediated circulating protection mechanism of IgG contributes to the long half-life and high plasma levels of IgG. FcRn inhibitors are able to target and block the binding of FcRn to IgG, accelerating IgG clearance and reducing IgG levels. Therefore, the use of FcRn inhibitors in the treatment of autoimmune diseases of the nervous system could theoretically help to accelerate the clearance of pathogenic IgG, achieve good clinical efficacy and have promising applications. Research in this area has made considerable progress in recent years and this article will review this.

19.
Chinese Journal of Neurology ; (12): 714-720, 2023.
Article in Chinese | WPRIM | ID: wpr-994887

ABSTRACT

Dendritic cells are the most powerful antigen-presenting cells in the human body, which are involved in the occurrence and development of multiple sclerosis, neuromyelitis optica, myasthenia gravis and other neuroimmune conditions. Recently, tolerogenic dendritic cells (tolDCs) are gradually becoming the research focus and therapeutic target of neuroimmune conditions. They can reconstruct the balance of T cells by inducing effector T cell anergy/deletion, and producing antigen-specific regulatory T cells, ultimately achieving the goal of maintaining immune tolerance. In this review, the mechanisms that tolDCs reconstruct T cell balance in neuroimmune conditions are analyzed and the research progress related to tolDC therapy is summarized.

20.
Chinese Journal of Neurology ; (12): 278-285, 2023.
Article in Chinese | WPRIM | ID: wpr-994828

ABSTRACT

Objective:To describe the clinical features of a patient of anti-neurofascin 186 (NF186) antibody associated acute immune sensory polyradiculopathy (AISP), and enhance understanding of AISP/chronic immune sensory polyradiculopathy (CISP).Methods:The clinical characteristics, diagnosis and treatment of a domestic AISP patient with NF186 antibody positive admitted to the First Hospital of Shanxi Medical University in December 2021 were summarized, and the previously reported cases of AISP/CISP were systematically reviewed.Results:The patient was a 62-year-old male with acute onset. The clinical manifestations included severe sensory ataxia, increased protein in cerebrospinal fluid, no response to stimulation of the central segment of somatosensory evoked potentials (SEP), normal sensory and motor nerve conduction, and positive serum anti-NF186 antibody (1∶32). After glucocorticoid treatment, the clinical symptoms and SEP were significantly improved. The drug was stopped for 2 months, and there was no recurrence. There were 23 cases of AISP and CISP with complete data reported in the literature (including this patient). The age of onset was (54.7±17.7) years, and the ratio of male to female was 1.88. Three patients with acute onset were classified as AISP. A total of 95.7% (22/23) of patients showed sensory ataxia without limb weakness, 95.0% (19/20) of patients showed prolonged cortical potential latency or even no response, and 95.5% (21/22) of patients showed increased cerebrospinal fluid protein in varying degrees, and nerve root thickening or abnormal enhancement was not common. All 10 patients receiving immunotherapy responded to corticosteroids or intravenous immune globulin. Only 6 AISP/CISP articles reported screening for anti-ganglioside antibodies or Ranvier′s node-paranodal region-related antibodies, and no positive NF186 antibodies were reported. All the 3 patients with AISP had some characteristics of CISP/chronic inflammatory demyelinating polyradiculoneuropathy, and there was no significant difference between AISP and CISP patients in clinical features except the mode of onset.Conclusions:NF186 antibody could cause AISP, which presents as acute onset sensory ataxia. AISP is responsive to glucocorticoid therapy. Except for the mode of onset, AISP and CISP are difficult to distinguish from clinical, electrophysiological, pathological aspects and pathogenic antibodies, so they may be two different manifestations of the same disease.

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