RESUMO
ABSTRACT: High prevalence of IDH mutations in seronegative rheumatoid arthritis (RA) with myeloid neoplasm, elevated 2-hydroxyglutarate, dysregulated innate immunity, and proinflammatory microenvironment suggests causative association between IDH mutations and seronegative RA. Our findings merit investigation of IDH inhibitors as therapeutics for seronegative IDH-mutated RA.
Assuntos
Artrite Reumatoide , Imunidade Inata , Isocitrato Desidrogenase , Mutação , Humanos , Artrite Reumatoide/imunologia , Artrite Reumatoide/genética , Isocitrato Desidrogenase/genética , Masculino , Feminino , Pessoa de Meia-Idade , IdosoRESUMO
Melanoma differentiation-associated gene 5 (MDA5) antibody, also known as anti-CADM140 antibody is recognised to be associated with rapidly progressive interstitial lung disease, which can be fatal within 3 months. It is also known to be associated with amyopathic dermatomyositis. We report a case of MDA5 antibody-associated interstitial pneumonia with autoimmune features, without cutaneous features of dermatomyositis, in a Sudanese patient with dual positive antibodies to Ro52. The patient notably had several features associated with poor prognosis, including age, high serum ferritin level, anti-Ro52 antibodies and progressive lung infiltrates during treatment.
Assuntos
Autoanticorpos/sangue , Helicase IFIH1 Induzida por Interferon/genética , Doenças Pulmonares Intersticiais/imunologia , Diagnóstico Diferencial , Feminino , Humanos , Helicase IFIH1 Induzida por Interferon/imunologia , Pulmão/diagnóstico por imagem , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/genética , Pessoa de Meia-Idade , Prognóstico , Insuficiência Respiratória/etiologia , Tomografia Computadorizada por Raios XRESUMO
Uretero-inguinal hernia in patients with native kidneys is rare. We report a case of an 84-year-old man who was diagnosed with obstructive uropathy secondary to uretero-inguinal hernia, with no past history of herniorrhaphy or congenital genitourinary malformation. Uretero-inguinal hernias are predominantly indirect inguinal hernias and may be paraperitoneal or extraperitoneal. Computed tomography (CT) is a non-invasive diagnostic tool for uretero-inguinal hernia. Herniorrhaphy is indicated in all cases of uretero-inguinal hernia to prevent obstructive uropathy.
