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1.
Am J Case Rep ; 22: e932683, 2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34855717

RESUMO

BACKGROUND Gout is a chronic disease characterized by deposition of monosodium urate crystals, typically manifesting as arthritis. Clinical presentation of gout usually results from activation of local inflammatory response. Despite being one of the oldest diseases in the world, gout pathophysiology is incompletely understood and clinical features are still surprising. Recent reports describe unusual manifestations including atypical joints involvement, tenosynovitis, panniculitis, and multinodular inguinal swelling. Another atypical feature is the acute polyarticular gout with severe systemic inflammatory response. CASE REPORT We report the case of a 55-year-old man presenting with fever, tachycardia, cauda equina syndrome, left-knee arthritis, and systemic inflammatory manifestations. Lumbar spine magnetic resonance imaging showed a 4.0×1.3×2.2 cm calcified mass inside the vertebral canal at the L4-L5 level, causing stenosis of the dural space and intervertebral foramen. Clinical diagnoses were septic knee arthritis and lumbar spine meningioma. Despite antibiotic therapy and left-knee surgical drainage, fever and increased C-reactive protein persisted, and arthritis developed in the elbows and right knee. As cultures were negatives, we then diagnosed gout flare in the affected joints accompanied by a severe systemic inflammatory reaction. A few days after starting colchicine and anti-inflammatory drugs, symptoms and inflammatory markers subsided. It was such a severe attack that we called it a "gout storm". CONCLUSIONS The report highlights the difficulty in diagnosing acute polyarticular gout affecting atypical joints, particularly when faced with a severe systemic inflammatory reaction.


Assuntos
Gota , Colchicina/uso terapêutico , Gota/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Exacerbação dos Sintomas , Ácido Úrico
2.
Sci Rep ; 9(1): 17673, 2019 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-31776429

RESUMO

This study proposed to determine global microRNA (miRNA) expression and miRNA-regulated pathways in Intestinal Neuronal Dysplasia type B (IND-B). Fifty patients (0-15 years old) with IND-B were included in the study. Peripheral blood samples were collected from all 50 patients and from 10 healthy asymptomatic children (controls). Rectal biopsies were collected from 29/50 patients; biopsy tissues were needle microdissected to isolate the different intestinal layers, for molecular analysis. Global miRNA expression was determined using TaqMan arrays. Correlation analysis between miRNA expression in plasma and biopsy samples as well as among tissues derived from the distinct intestinal layers was performed. Computational approaches were used for miRNA target prediction/identification of miRNA-regulated genes and enriched pathways biologically relevant to IND-B pathogenesis. miRNAs were statistically significantly deregulated (FC ≥ 2 and p ≤ 0.05) in submucosal and muscular layers: over-expressed (miR-146a and miR-146b) and under-expressed (miR-99a, miR-100, miR-130a, miR-133b, miR-145, miR-365, miR-374-5p, miR-451). Notably, let-7a-5p was highly over-expressed in patient plasma compared to healthy controls (FC = 17.4). In addition, miR-451 was significantly under-expressed in both plasma and all biopsy tissues from the same patients. Enriched pathways (p < 0.01) were axon guidance, nerve growth factor signalling, NCAM signalling for neurite out-growth, neuronal system and apoptosis. miRNA expression is deregulated in the submucosa and muscular layers of the rectum and detected in plasma from patients with IND-B. Biologically enriched pathways regulated by the identified miRNAs may play a role in IND-B disease pathogenesis, due to the activity related to the neurons of the enteric nervous system.


Assuntos
Biologia Computacional/métodos , Enteropatias/genética , Enteropatias/patologia , MicroRNAs/genética , Doenças do Sistema Nervoso/genética , Doenças do Sistema Nervoso/patologia , Transcriptoma , Adolescente , Apoptose , Orientação de Axônios , Biópsia , Criança , Pré-Escolar , Feminino , Perfilação da Expressão Gênica , Humanos , Lactente , Recém-Nascido , Enteropatias/sangue , Masculino , Fatores de Crescimento Neural/metabolismo , Doenças do Sistema Nervoso/sangue , Moléculas de Adesão de Célula Nervosa/metabolismo , Reto/patologia
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