RESUMEN
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.
Asunto(s)
Artritis Reumatoide , Inmunidad Innata , Isocitrato Deshidrogenasa , Mutación , Humanos , Artritis Reumatoide/inmunología , Artritis Reumatoide/genética , Isocitrato Deshidrogenasa/genética , Masculino , Femenino , Persona de Mediana Edad , AncianoRESUMEN
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.
Asunto(s)
Autoanticuerpos/sangre , Helicasa Inducida por Interferón IFIH1/genética , Enfermedades Pulmonares Intersticiales/inmunología , Diagnóstico Diferencial , Femenino , Humanos , Helicasa Inducida por Interferón IFIH1/inmunología , Pulmón/diagnóstico por imagen , Enfermedades Pulmonares Intersticiales/complicaciones , Enfermedades Pulmonares Intersticiales/genética , Persona de Mediana Edad , Pronóstico , Insuficiencia Respiratoria/etiología , Tomografía Computarizada por Rayos XAsunto(s)
Enfermedades Autoinmunes , Metotrexato , Humanos , Metotrexato/uso terapéutico , Metotrexato/efectos adversos , Femenino , Masculino , Enfermedades Autoinmunes/tratamiento farmacológico , Enfermedades Autoinmunes/inducido químicamente , Persona de Mediana Edad , Anciano , Enfermedades Reumáticas/tratamiento farmacológico , Adulto , Antirreumáticos/uso terapéutico , Antirreumáticos/efectos adversosRESUMEN
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.