Espondiloencondrodisplasia con desregulación inmune relacionada a ACP5. Reporte de cuatro casos / Spondyloenchondrodysplasia with immune dysregulation related to ACP5. A report of 4 cases

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.

Elevated serum IL-6 levels predict treatment interruption in patients with moderate to severe psoriasis: a 6-year real-world cohort study

Abstract Background: Real-world, primary data on the treatment of psoriasis are scarce, especially concerning the role of soluble biomarkers as outcome predictors. Objective: The authors evaluated the utility of Th1/Th17 serum cytokines along with clinical characteristics as predictors of drug survival in the treatment of psoriasis. Methods: The authors consecutively included participants with moderate to severe psoriasis who were followed up for 6 years. Baseline interferon-α, tumor necrosis factor-α, and inter-leukin (IL)-2, IL-4, IL-6, IL-10, and IL-17A were measured using a cytometric bead array; clinical data were assessed. The authors calculated hazard ratios (HRs) for drug survival using a Cox proportional hazards model. Results: The authors included 262 patients, most of whom used systemic immunosuppressants or biologics. In the multivariate model, poor quality of life measured by the Dermatology Life Quality Index (HR = 1.04; 95% CI 1.01-1.07; p = 0.012) and elevated baseline IL-6 (HR = 1.99; 95% CI 1.29-3.08; p = 0.002) were associated with treatment interruption. Study limitations: The main limitation of any cohort study is the presence of confounders that could not be detected in clinical evaluation. Conclusions: Poor quality of life and elevated baseline serum IL-6 level predicted treatment interruption in patients with moderate to severe psoriasis. Although IL-6 is not the most important mediator of the inflammatory pathway in the skin environment, it is an interesting biomarker candidate for predicting psoriasis treatment response.

Role and mechanism of action of Yinchenhao Decoction in inhibiting ferroptosis of hepatocytes in mice with autoimmune hepatitis / 临床肝胆病杂志

ObjectiveTo investigate the role and mechanism of action of Yinchenhao Decoction in inhibiting ferroptosis of hepatocytes in mice with autoimmune hepatitis. MethodsA total of 18 specific pathogen-free female C57BL/6 mice were selected and divided into normal group， model group， and treatment group using a random number table， with 6 mice in each group. The mice in the model group and the treatment group were injected with concanavalin A （Con A） via the caudal vein to establish a mouse model of autoimmune hepatitis， and those in the normal group were injected with normal saline. The mice in the treatment group were given prophylactic treatment with Yinchenhao Decoction （4.68 g crude drug/kg） by gavage at 14 days before modeling， and Con A was injected after the last gavage. The levels of alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， interferon gamma （IFN-γ）， tumor necrosis factor-α （TNF-α）， iron ion， glutathione （GSH）， reactive oxygen species （ROS）， adenosine triphosphate （ATP）， and malondialdehyde （MDA） were measured； liver index and spleen index were calculated； the expression levels of GPX4 and SLC7A11 were measured； liver histopathological changes were compared between groups. A one-way analysis of variance was used for comparison of normally distributed continuous data between three groups， and the least significant difference t-test was used for further comparison between two groups. ResultsCompared with the normal group， the model group had significant increases in liver index， spleen index， ALT， AST， IFN-γ， TNF-α， iron ion， ROS and MDA （all P<0.05） and significant reductions in the content of GSH and ATP and the protein expression levels of GPX4 and SLC7A11 （all P<0.05）. Compared with the model group， the treatment group had significant reductions in liver index， spleen index， ALT， AST， IFN-γ， TNF-α， iron ion， ROS and MDA （all P<0.05） and significant increases in the content of GSH and ATP and the protein expression levels of GPX4 and SLC7A11 （all P<0.05）. HE staining showed that compared with the normal group， the model group showed massive hepatocyte degeneration and necrosis and inflammatory cell aggregation at the portal area， and compared with the model group， the treatment group had alleviation of liver necrosis and inflammatory infiltration. ConclusionLiver injury induced by Con A may be associated with ferroptosis. Yinchenhao Decoction can increase the protein expression levels of SLC7A11 and GPX4 protein and thus inhibit ferroptosis of hepatocytes induced by Con A.

TREM-2 Drives Development of Multiple Sclerosis by Promoting Pathogenic Th17 Polarization / 神经科学通报·英文版

Multiple sclerosis (MS) is a neuroinflammatory demyelinating disease, mediated by pathogenic T helper 17 (Th17) cells. However, the therapeutic effect is accompanied by the fluctuation of the proportion and function of Th17 cells, which prompted us to find the key regulator of Th17 differentiation in MS. Here, we demonstrated that the triggering receptor expressed on myeloid cells 2 (TREM-2), a modulator of pattern recognition receptors on innate immune cells, was highly expressed on pathogenic CD4-positive T lymphocyte (CD4+ T) cells in both patients with MS and experimental autoimmune encephalomyelitis (EAE) mouse models. Conditional knockout of Trem-2 in CD4+ T cells significantly alleviated the disease activity and reduced Th17 cell infiltration, activation, differentiation, and inflammatory cytokine production and secretion in EAE mice. Furthermore, with Trem-2 knockout in vivo experiments and in vitro inhibitor assays, the TREM-2/zeta-chain associated protein kinase 70 (ZAP70)/signal transducer and activator of transcription 3 (STAT3) signal axis was essential for Th17 activation and differentiation in EAE progression. In conclusion, TREM-2 is a key regulator of pathogenic Th17 in EAE mice, and this sheds new light on the potential of this therapeutic target for MS.

Association of intestinal microecology with the development and progression of autoimmune hepatitis / 临床肝胆病杂志

Autoimmune hepatitis （AIH） is an autoimmune disease characterized by chronic liver inflammation， with a gradually increasing incidence rate， and its social and medical burdens cannot be neglected. Intestinal microecology is becoming a research hotspot in the field of autoimmune disease. In recent years， it has been believed that changes in intestinal microecology can cause changes in autoimmune state， microbial metabolites， and intestinal barrier， which is one of the driving factors for the onset of AIH. Early diagnosis and correct treatment can help to improve the prognosis of AIH patients. This article introduces the characteristics of gut microbiota in AIH patients， elaborates on the impact of intestinal microflora imbalance on the pathogenesis of AIH， and briefly describes related treatment regimens from the perspective of intestinal microecology， so as to comprehensively understand and explain the role of intestinal microecology in AIH and the impact of intestinal microecology balance on the pathogenesis， diagnosis， and treatment of AIH.

Effect of Buzhong Yiqitang on Th17/Treg Immune Imbalance and Notch1 Signaling Pathway in AIT Mice / 中国实验方剂学杂志

ObjectiveTo explore the effect of Buzhong Yiqitang on the immune imbalance of helper T cell 17 （Th17）/regulatory T cell （Treg） and Notch1 signaling pathway in mice with autoimmune thyroiditis （AIT）. MethodA total of 60 8-week-old NOD.H-2h4 mice were randomly divided into the normal group， model group， western medicine group （selenium yeast tablet， 32.5 mg·kg-1）， and low-dose （4.78 g·kg-1·d-1）， middle-dose （9.56 g·kg-1·d-1）， and high-dose （19 g·kg-1·d-1） Buzhong Yiqitang groups， with 10 mice in each group. The normal group was fed with distilled water， and the other groups were fed with water containing 0.05% sodium iodide for eight weeks. After the animal model of AIT was formed spontaneously， the mice were killed under anesthesia after intragastric administration for eight weeks. Serum anti-thyroglobulin antibodies （TGAb）， thyroid-stimulating hormone （TSH）， free triiodothyronine （FT3）， and free thyroid hormone （FT4） were detected by enzyme-linked immunosorbent assay （ELISA）， and thyroid tissue changes were observed by hematoxylin-eosin （HE） staining. The mRNA and protein expressions of retinoid-related orphan receptor-γt （RORγt）， interleukin （IL）-17， forkhead box P3 （FoxP3）， IL-10， Notch1， and hair division-related enhancer 1 （Hes1） in thyroid tissue were detected by Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） and Western blot， respectively. ResultCompared with the normal group， the thyroid structure of the model group was severely damaged， and lymphocytes were infiltrated obviously. The levels of serum TGAb， FT3， and FT4 contents were significantly increased， and TSH content was significantly decreased （P<0.01）. The mRNA and protein expression levels of RORγt， IL-17， Notch1， and Hes1 were significantly increased， while those of FoxP3 and IL10 were significantly decreased in the model group （P<0.01）. Compared with the model group， thyroid structural damage and lymphocyte infiltration were improved in the treatment groups， and serum TGAb， FT3， and FT4 contents were significantly decreased. TSH content was increased， and mRNA and protein expression levels of RORγt， IL-17， Notch1， and Hes1 were decreased. mRNA and protein expression levels of FoxP3 and IL-10 were increased to different degrees （P<0.05， P<0.01）， and the middle-dose Buzhong Yiqitang group had the most significant intervention effect. ConclusionBuzhong Yiqitang can alleviate the thyroid structural damage in AIT mice， and its mechanism may be related to improving the abnormal differentiation of Th17/Treg immune cells and inhibiting the activation of the Notch1 signaling pathway.

Could a reduced hemoglobin, albumin, lymphocyte, and platelet (HALP) score predict autoimmune hepatitis and degree of liver fibrosis?

SUMMARY OBJECTIVE: Autoimmune hepatitis is a rare inflammatory disease of the liver that is characterized by elevated liver enzymes. The hemoglobin, albumin, lymphocyte, and platelet score, which is derived from hemoglobin, serum albumin, circulating lymphocyte count, and platelet count, is also associated with inflammatory conditions. The aim was to examine the hemoglobin, albumin, lymphocyte, and platelet score of patients with autoimmune hepatitis and to compare it to that of healthy individuals in this retrospective analysis. METHODS: Subjects diagnosed with autoimmune hepatitis were enrolled in the study, and healthy individuals were enrolled as controls. Moreover, autoimmune hepatitis subjects were grouped into mild or moderate/advanced fibrosis. Furthermore, aspartate to platelet ratio index, Fibrosis-4, and hemoglobin, albumin, lymphocyte, and platelet scores of the autoimmune hepatitis patients and controls were compared. In addition, the hemoglobin, albumin, lymphocyte, and platelet score of the autoimmune hepatitis patients with mild fibrosis is compared to that of those with moderate/advanced fibrosis. RESULTS: The mean hemoglobin, albumin, lymphocyte, and platelet score of the autoimmune hepatitis patients was 44.2±14.5 while this value was 76.8±15.5 in control subjects. The hemoglobin, albumin, lymphocyte, and platelet score was significantly reduced in autoimmune hepatitis patients than healthy controls (p<0.001). The hemoglobin, albumin, lymphocyte, and platelet score was significantly and negatively correlated with C-reactive protein, aspartate, alanine transaminase, gamma glutamyl transferase, aspartate to platelet ratio index, and Fibrosis-4 values. A hemoglobin, albumin, lymphocyte, and platelet score that was lower than 52.3 had 83% sensitivity and 73% specificity in predicting autoimmune hepatitis. The sensitivity and specificity of the hemoglobin, albumin, lymphocyte, and platelet score were higher than the Fibrosis-4 score in predicting moderate/advanced fibrosis in autoimmune hepatitis. CONCLUSION: We suggest that the hemoglobin, albumin, lymphocyte, and platelet score be used as an additional noninvasive diagnostic tool for autoimmune hepatitis and to predict moderate/advanced liver fibrosis in patients with autoimmune hepatitis.

Relationship between hyperuricemia, HSP70 and NLRP3 inflammasome in arterial hypertension / La relación hiperuricemia-HSP70-NLRP3 inflamosoma en la hipertensión arterial

Abstract Arterial hypertension is the most important cardiovascular risk factor in chronic non-communicable diseases and is estimated to be responsible for 10.4 million deaths annually. The global prevalence of hypertension is 30% and the majority of people with hypertension do not have a clear identifiable cause and are considered to have primary hypertension. Experimental and clinical investigations from several research groups, including ours, have established that inflammation and autoimmune reactivity play a role in the sodium retention and hemodynamic responses that drive primary hypertension. Hyperuricemia and heat stress proteins (HSP), particularly HSP70, are both associated with the activation of innate immunity that plays a role in the development of inflammatory reactivity in the hypertensive patient. Clinical studies have shown an association between the expression of HSP70 and anti-HSP70 antibodies and primary hypertension. This brief review aims to examine the interrelation between hyperuricemia and extracellular overexpression of HSP70 in the activation of the inflammasome that may have a central role in the pathophysiology of primary hypertension.

Resumen La hipertensión arterial es el factor de riesgo cardiovascular más importante de las enfermedades crónicas no transmisibles y se estima que es responsable de 10.4 millones de muertes al año. La prevalencia mundial de la hipertensión es del 30%; la mayoría de las personas con hipertensión no tienen una causa claramente identificable y se considera que tienen hipertensión primaria. Las investigaciones experimentales y clínicas de varios grupos de investigación, incluido el nuestro, han establecido que la inflamación y la reactividad autoinmune desempeñan un papel en la retención de sodio y las respuestas hemodinámicas que provocan la hipertensión primaria. La hiperuricemia y las proteínas del estrés por calor (HSP), particularmente HSP70, están asociadas con la activación de la inmunidad innata que juega un papel en el desarrollo de la reactividad inflamatoria en pacientes hipertensos. Estudios clínicos han demostrado asociación entre la expresión de HSP70 y anticuerpos anti-HSP70 y la hipertensión arterial primaria Esta breve revisión tiene como objetivo examinar la interrelación entre la hiperuricemia y la sobreexpresión extracelular de HSP70 en la activación del inflamasoma, así como su probable papel central en la fisiopatología de la hipertensión primaria.

Sjogren's syndrome: a neurological perspective / Síndrome de Sjogren: uma perspectiva neurológica

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.

Reshaping neuroimmunology: diagnosis and treatment in the era of precision medicine / Remodelando a neuroimunologia: diagnóstico e tratamento na era da medicina de precisão

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.

Qual o impacto da capsulectomia nos sintomas sistêmicos atribuídos às próteses mamárias de silicone? Revisão sistemática da literatura / What is the impact of capsulectomy on systemic symptoms attributed to silicone breast implants? Systematic literature review

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.

Magnetic resonance imaging findings in autoimmune hepatitis: how frequent and reproducible are they? / Achados de imagem por ressonância magnética na hepatite autoimune: quão frequentes e reprodutíveis são eles?

Abstract Objective: To determine the frequency and interobserver reproducibility of the magnetic resonance imaging (MRI) features considered diagnostic for autoimmune hepatitis. Materials and Methods: Two abdominal radiologists, blinded to pathology data, reviewed the MRI examinations of 20 patients with autoimmune hepatitis, looking for liver enhancement, lymphadenopathy, portal hypertension, and chronic liver disease. The pattern of liver fibrosis was categorized as reticular, confluent, or mixed. Interobserver agreement was assessed by calculating intraclass correlation coefficients and kappa statistics. Results: The most common abnormal finding on MRI was surface nodularity (in 85%), followed by liver fibrosis with a reticular pattern (in 80%)—categorized as mild (in 25.0%), moderate (in 43.8%), or severe (in 31.2%)—; heterogeneous liver enhancement (in 65%); splenomegaly (in 60%); caudate lobe enlargement (in 50%); and lymphadenopathy (in 40%). The interobserver agreement was almost perfect for surface nodularity (0.83), ascites (0.89), and liver volume (0.95), whereas it was just slight and fair for the degree of fibrosis and for heterogeneous liver enhancement (0.12 and 0.25, respectively). It was also slight and fair for expanded gallbladder fossa and enlarged preportal space (0.14 and 0.36, respectively), both of which are indicative of chronic liver disease. Conclusion: The interobserver agreement was satisfactory for surface nodularity (the most prevalent abnormal MRI finding), ascites, liver volume, and splenomegaly. Conversely, it was only slight or fair for common but less objective criteria.

Resumo Objetivo: Determinar a frequência e reprodutibilidade interobservador das características de imagem por ressonância magnética na hepatite autoimune. Materiais e Métodos: Dois radiologistas abdominais, cegos para dados patológicos, revisaram ressonâncias magnéticas de 20 pacientes com hepatite autoimune quanto ao realce hepático, linfadenopatia, hipertensão portal e doença hepática crônica. A fibrose foi classificada como reticular, confluente ou ambas. A concordância interobservador foi avaliada por coeficientes de correlação intraclasse e estatística kappa. Resultados: O achado anormal mais comum foi nodularidade superficial (85%), seguido de fibrose reticular hepática (80%) — leve (25%), moderada (43,8%), grave (31,2%) —, realce heterogêneo (65%), esplenomegalia (60%), aumento do lobo caudado (50%) e linfadenopatia (40%). A concordância interobservador foi quase perfeita para nodularidade superficial (0,83), ascite (0,89) e volume hepático (0,95); entretanto, foi apenas leve (0,12) e razoável (0,25) para grau de fibrose e realce heterogêneo, respectivamente. Também foi leve (0,14) ou regular (0,36) para achados de doença hepática crônica, como fossa da vesícula biliar expandida e espaço pré-portal alargado, respectivamente. Conclusão: A concordância geral foi satisfatória para nodularidade superficial (achado anormal mais prevalente), ascite, volume hepático e esplenomegalia. Critérios frequentes, porém menos objetivos, tiveram apenas concordância leve a razoável.

Immunoglobulin G4-Related Disease, A Diagnosis to Take into Account: About a Case

Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated and multisystemic condition associated with developing fibroinflammatory lesions in any organ. The diagnosis is made based on the sum of clinical, serological, radiological, and histopathological criteria; however, this is often difficult due to its similarity to neoplasms, infections, or other immune-mediated diseases. Treatment is based on corticosteroids, in a possible combination with immunomodulators. The present case concerns a 59-year-old man with a history of jaundice syndrome and weight loss, admitted for suspected malignant neoplasia of the bile duct. Imaging revealed stricture with dilation of the intrahepatic bile ducts, prominent pancreas, pancreatic duct stricture, and nodular renal lesions. Due to the history of left submandibulectomy two years before the current disease and histology compatible with Küttner's tumor, plus the high IgG4 serum values, the diagnosis of IgG4-RD was established. He started treatment with corticosteroids and was asymptomatic during follow-up.

La enfermedad relacionada con inmunoglobulina G4 (ER-IgG4) es una condición inmunomediada y multisistémica asociada al desarrollo de lesiones fibroinflamatorias en cualquier órgano. El diagnóstico se realiza bajo la suma de criterios clínicos, serológicos, radiológicos e histopatológicos; sin embargo, este suele ser difícil debido a su similitud con neoplasias, infecciones u otras enfermedades inmunomediadas. El tratamiento se basa en corticosteroides, en una posible combinación con inmunomoduladores. El presente caso trata de un varón de 59 años con historia de síndrome ictérico y baja de peso, admitido por sospecha de neoplasia maligna de la vía biliar. Las imágenes revelaron estenosis con dilatación de las vías biliares intrahepáticas, páncreas prominente, estenosis del conducto pancreático y lesiones nodulares renales. Debido al antecedente de submandibulectomía izquierda 2 años antes de la enfermedad actual e histología compatible con tumor de Küttner, más los valores elevados de IgG4 sérico, se estableció el diagnóstico de ER-IgG4. Inició tratamiento con corticosteroides y cursó asintomático durante el seguimiento.

vitíligo, estrés psicológico y bioquímica del cerebro: Una revisión sistemática desde la neurociencia

Objetivo: El propósito de este estudio es establecer los mecanismos de la actividad Bioquímica a través del Estrés Psicológico que influyen en la enfermedad del vitiligo desde una perspectiva neurocientifica, mediante una revisión sistemática de la literatura de los últimos 5 años. Método: La búsqueda sistemática se llevó a cabo en las bases de datos Scopus, PubMed y Web of Science para identificar los estudios que describan la enfermedad de Vitiligo, el estrés psicológico y la bioquímica del cerebro, se establecieron criterios de inclusión y exclusión para la selección de los artículos, así mismo, se evaluó su calidad y pertinencia. Resultados: La revisión sistemática arrojó 15.503 artículos, 70 fueron preseleccionados de acuerdo a lo informado en el resumen y validados para lectura completa. Para la síntesis narrativa se utilizaron 23 artículos científicos. Conclusión: La enfermedad de vitiligo guarda una estrecha relación con el estrés psicológico y está acompañado de un desequilibrio bioquímico que conduce a un proceso inflamatorio y destructivo de los melanocitos de la piel.

Objective: The purpose of this study is to establish the mechanisms of biochemical activity through psychological stress that influence vitiligo disease from a neuroscientific perspective, through a systematic review of the literature of the last 5 years. Method: Systematic search was carried out in the Scopus, PubMed and Web of Science databases to identify studies describing Vitiligo disease, psychological stress and brain biochemistry, inclusion and exclusion criteria were established for the selection of articles, their quality and relevance were evaluated. Results: The systematic review yielded 15,503 articles, of which 70 were pre-selected as reported in the summary and validated for full reading. For the narrative synthesis 23 scientific articles were used. Conclusion: Vitiligo disease is closely related to psychological stress and is accompanied by a biochemical imbalance that leads to an inflammatory and destructive process of skin melanocytes.

Encefalitis autoinmune seronegativa asociada a síndrome de Sjögren primario / Autoimmune seronegative encephalitis associated to primary Sjögren's disease

La encefalitis autoinmune es un trastorno inmunomediado que compromete distintos territorios del parénquima cerebral, involucrando frecuentemente la materia gris profunda o la corteza, con o sin compromiso de la materia blanca, meninges o médula espinal. Se asocia frecuentemente con enfermedades autoinmunes o paraneoplásicas, y constituye un reto diagnóstico. Reportamos el caso de una mujer de 55 años con antecedente de síndrome de Sjögren que consultó a Emergencias por cefalea y confusión. El líquido cefalorraquídeo (LCR) presentaba leucocitosis con neutrofilia. En la resonancia magnética nuclear (RMN) cerebral se evidenciaron múltiples imágenes de comportamiento restrictivo, de señal hiperintensa en T2 y FLAIR, a predominio córtico-subcortical a nivel occipital bilateral, hemisferio cerebeloso derecho y parietal derecho. Se descartaron infecciones y neoplasias. El panel de anticuerpos para encefalitis autoinmune aquaporina-4 y anti-MOG en LCR fue negativo. Recibió metilprednisolona endovenosa con mejoría progresiva de los síntomas.

Autoimmune encephalitis is an immune-mediated disorder that affects different areas of the brain parenchyma, often involving deep gray matter or the cortex, with or without involvement of white matter, meninges, or spinal cord. It is frequently associated with autoimmune or paraneoplastic diseases and is a diagnostic challenge. We report the case of a 55-year-old woman with history of Sjögren's syndrome who presented to the emergency department with headache and episodes of confusion. Cerebrospinal fluid (CSF) analysis showed leukocytosis with neutrophilia. Brain MRI revealed multiple restricted diffusion lesions with hyperintense signal on T2 and FLAIR sequences, predominantly in the bilateral occipital region, right cerebellar hemisphere, and right parietal region. Infections and neoplasms were ruled out. The panel of antibodies for autoimmune encephalitis, including Aquaporin-4 and anti-MOG in CSF, was negative. She received intravenous methylprednisolone, leading to symptom improvement.

Estudio de factores clínicos y epidemiológicos en pacientes con diagnóstico de artritis reumatoidea

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.

Actividad y discapacidad en pacientes cubanos con artritis reumatoide como factores que influyen en la sexualidad

Introducción: La artritis reumatoide es una enfermedad autoinmune de carácter inflamatorio y crónico. La afectación en la esfera sexual es frecuente, compromete a ambos sexos y se relaciona con factores como el dolor, la discapacidad y el consumo de medicamentos. Esta afectación no ha sido suficientemente abordada en la literatura a pesar de su prevalencia, y en Cuba no se han reportado hasta el momento estudios relacionados sobre este tema de investigación. Objetivo: Determinar el impacto de la artritis reumatoide en la sexualidad y su relación en la actividad y la discapacidad. Métodos: Se realizó un estudio monocéntrico, transversal, descriptivo. Se incluyeron los pacientes con un diagnóstico de artritis reumatoide en el período comprendido de septiembre de 2019 a junio de 2021. Se utilizó el cuestionario Qualisex para evaluar el impacto de la artritis reumatoide en la sexualidad. Resultados: En el estudio doscientos veintiséis pacientes fueron incluidos, la media de edad fue de 53,38 años (DE ± 12,22) el 82,7 % fueron mujeres. Al responder el autocuestionario Qualisex el 73,9 % de los sujetos presentaron afectación en la sexualidad. No se estableció una relación significativa entre la afectación en la esfera sexual y el tiempo de evolución. A diferencia de los niveles altos de actividad y discapacidad. Conclusiones: En la población estudiada se presentó afectación en la sexualidad, no obstante, esta no se relacionó con el tiempo de evolución de la artritis reumatoide. Se encontró asociación entre la actividad de la enfermedad y la capacidad funcional con la afectación en la esfera sexual.

Introduction: Rheumatoid arthritis is a chronic, inflammatory autoimmune disease. Disorders in the sexual sphere is frequent, it affects both sexes and it is related to factors such as pain, disability and medication consumption. This condition has not been sufficiently addressed in the literature despite its prevalence and in Cuba no studies related to the topic under study have been reported to date. Objective: To determine the impact of rheumatoid arthritis on sexuality and its relationship with activity and disability. Methods: A monocentric, cross-sectional and descriptive study was carried out on patients with a diagnosis of rheumatoid arthritis, from September 2019 to June 2021. The Qualisex questionnaire was used to evaluate the impact of rheumatoid arthritis on sexuality. Results: Two hundred twenty-six patients were included, the mean age was 53.38 years (SD ± 12.22) and 82.7% were women. When answering the Qualisex self-questionnaire, 73.9% of the subjects had effects in their sexuality. No significant relationship was established between the involvement in the sexual sphere and the time of evolution. Conclusions: The impact on sexuality in the studied population was not related to the duration of rheumatoid arthritis. On the other hand, an association was found between disease activity and functional capacity with effects in the sexual sphere.

Encefalitis autoinmune posherpética. Caso clínico pediátrico / Autoimmune post-herpes simplex encephalitis. A pediatric clinical case report

La encefalitis por virus herpes simple (VHS) es una causa frecuente de encefalitis grave y potencialmente fatal. La encefalitis autoinmune posherpética (EAPH) afecta a un porcentaje de los pacientes que han presentado encefalitis herpética (EH) y se caracteriza por la aparición de nuevos síntomas neurológico/psiquiátricos, y/o por el empeoramiento de los déficits adquiridos durante la infección viral dentro de un lapso temporal predecible. Se produce por un mecanismo no relacionado con el VHS, sino por fenómenos autoinmunes, y es susceptible de tratamiento con inmunomoduladores. Se presenta el caso de un varón de 5 años de edad con EAPH que requirió tratamiento inmunomodulador, de primera y segunda línea, con buena evolución y remisión de los síntomas.

Herpes simplex virus (HSV) encephalitis is a common cause of severe and potentially fatal encephalitis. Autoimmune post-herpes simplex encephalitis (AIPHSE) affects a percentage of patients who developed herpes simplex encephalitis (HSE) and is characterized by the onset of new neurological/psychiatric symptoms and/or worsening of deficits acquired during the herpes infection within a predictable time frame. It is caused by a mechanism not related to HSV, but by autoimmune conditions, and is susceptible to treatment with immunomodulators. Here we describe the case of a 5-year-old boy with AIPHSE who required first- and second-line immunomodulatory treatment, with an adequate course and remission of symptoms.

Papel inmunomodulador de la vitamina D y los ácidos grasos poliinsaturados omega-3 en trastornos autoinmunes: Revisión de la Literatura / Immunomodulatory role of vitamin D and omega-3 polyunsaturated fatty acids in autoinmune disorders: Literature Review

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)

Síndrome de Sjögren y endodoncia, consideraciones a propósito de un caso / Sjögren's syndrome and endodontics, clinical case and considerations

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.