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1.
Ital J Pediatr ; 44(1): 26, 2018 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-29454377

RESUMO

BACKGROUND: Chronic recurrent multifocal osteomyelitis (CRMO), also known as chronic nonbacterial osteomyelitis, is a rare, noninfectious inflammatory disorder that causes multifocal bone lesions with swelling and pain. Lytic and sclerotic bone lesions could be found on X-ray. Short tau inversion recovery magnetic resonance imaging (STIR MRI) shows bone marrow oedema, bone expansion, lytic areas and periosteal reaction. CRMO is characterized by periodic exacerbations and remissions of unclear/unknown pathogenesis. CASE PRESENTATION: A 10 years old girl, suffering from pain in her right shoulder since the age of 9 years presented to our Department. Thanks to clinical data, laboratoristic and radiological findings and bone biopsy CRMO was diagnosed. So patient started anti-inflammatory treatment and her conditions improved. CONCLUSIONS: In a child with bone pain should be considered also rare condition as CRMO to perform a correct diagnosis and start an adequate treatment avoiding complications such as bone damage. This condition should be suspected in a child with recurrent bone pain, modest increase of inflammatory indices, lytic or sclerotic bone lesion on X Ray. Typical CRMO localizations are metaphyses of long bones, pelvis, clavicle, vertebral column, sternum, ribs, jaw, but any bone can be involved. The most common CRMO differential diagnosis is represented by infections, malignant bone tumors, Langerhans Cells Histiocytosis (LCH).


Assuntos
Corticosteroides/administração & dosagem , Osteomielite/diagnóstico por imagem , Osteomielite/tratamento farmacológico , Dor de Ombro/diagnóstico , Análise Química do Sangue , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética/métodos , Osteomielite/fisiopatologia , Medição da Dor , Radiografia/métodos , Índice de Gravidade de Doença , Dor de Ombro/etiologia , Resultado do Tratamento
2.
Clin Rheumatol ; 34(7): 1171-80, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25833143

RESUMO

Ocular involvement is frequent in the monogenic autoinflammatory disorders and generally occurs as spontaneously recurring inflammatory events at different ocular sites caused by the aberrant release of proinflammatory cytokines, mainly IL-1ß. Over the past decade, we witnessed a significant growth of eye abnormalities associated with idiopathic granulomatous disorders, familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and cryopyrin-associated periodic syndrome. The pathogenetic mechanisms of these disorders have shown the evidence of disrupted cytokine signaling, but the explanation for the heterogeneous ocular involvement remains to be elucidated. We herein review the monogenic autoinflammatory disorders affecting the eye, describing their main clinical features with specific regard to the ocular involvement, which can lead to decreased visual acuity and even blindness, if the primary disorder is undetected or left untreated.


Assuntos
Oftalmopatias/imunologia , Inflamação/imunologia , Artrite/genética , Artrite/imunologia , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Síndromes Periódicas Associadas à Criopirina/genética , Síndromes Periódicas Associadas à Criopirina/imunologia , Citocinas/metabolismo , Febre Familiar do Mediterrâneo/genética , Febre Familiar do Mediterrâneo/imunologia , Feminino , Febre/genética , Febre/imunologia , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/imunologia , Humanos , Interleucina-1beta/metabolismo , Masculino , Deficiência de Mevalonato Quinase/genética , Deficiência de Mevalonato Quinase/imunologia , Mutação , Fosfotransferases (Aceptor do Grupo Álcool)/deficiência , Sarcoidose , Sinovite/genética , Sinovite/imunologia , Uveíte/genética , Uveíte/imunologia
3.
Ital J Pediatr ; 39: 64, 2013 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-24124913

RESUMO

Type 1 diabetes mellitus may be associated with many autoimmune diseases with the common autoimmune pathogenesis. We describe the case of a girl suffering from Type 1 diabetes mellitus and autoimmune Hashimoto's thyroiditis since the childhood and, due to the onset of Juvenile Idiopathic Arthritis during adolescence, for three years practiced therapy with an anti-TNF drug, etanercept . Currently her inflammatory markers are normal, arthritis is inactive and diabetes is well controlled. During the treatment with anti-TNF drug we observed a significative reduction of insulin dose, probably due to an increased tissue sensitivity secondary to the suppression of the activity of TNF-alpha. Several clinical trials that have evaluated the effect of immunomodulatory agents in diabetic patients, especially in those with recent onset of disease, were already performed but further studies of longer duration on a larger population are needed to assess the role of biologic drugs and immunotherapy in this group of patients.


Assuntos
Artrite Juvenil/tratamento farmacológico , Artrite Juvenil/imunologia , Diabetes Mellitus Tipo 1/imunologia , Doença de Hashimoto/imunologia , Imunoglobulina G/uso terapêutico , Receptores do Fator de Necrose Tumoral/uso terapêutico , Fator Reumatoide/sangue , Adolescente , Artrite Juvenil/complicações , Artrite Juvenil/diagnóstico , Doenças Autoimunes/complicações , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/diagnóstico , Relação Dose-Resposta a Droga , Esquema de Medicação , Etanercepte , Feminino , Seguimentos , Doença de Hashimoto/complicações , Doença de Hashimoto/diagnóstico , Humanos , Imunossupressores/uso terapêutico , Injeções Subcutâneas , Medição de Risco , Resultado do Tratamento
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