Browsing by Author "Rocha, AP"
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- H Factor Deficiency: A Case with an Atypical PresentationPublication . Rocha, AP; Borges, M; Neves, C; Neves, JFWe report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal. CFH gene molecular test confirmed the H factor deficiency diagnosis. This child had none of the typical manifestations of this disorder, namely Neisseria meningitidis infection or renal disease (glomerulonephritis and atypical haemolytic uremic syndrome). Autoimmune family history and correct interpretation of blood tests' results were crucial for this diagnosis.
- Immunological Reconstitution Inflammatory Syndrome and Thrombotic Microangiopathy: Severe Complications in a Child With Acquired Immunodeficiency SyndromePublication . Rocha, AP; Milheiro Silva, T; Francisco, T; Neves, C; Brites, V; Candeias, FSome patients with human immunodeficiency virus (HIV) infection deteriorate shortly after starting highly active antiretroviral therapy (HAART), the so-called immunological reconstitution inflammatory syndrome (IRIS).1 Although having a spontaneous resolution in many instances, it can be fatal.1 Worse prognosis is seen in younger children, severe immunosuppression and central nervous system IRIS, or infections with specific agents, namely, Criptococcus.2 Hemophagocytic lymphohistiocytosis (HLH) has also been described in children with HIV infection, in the context of an immunological system dysregulation.3 Thrombotic microangiopathy (TMA) became rare with the introduction of HAART, being mostly associated with advanced disease.4 HIV-associated TMA has specific clinical aspects as well as a worse prognosis than idiopathic or congenital TMA.4-9 The authors present the case of a 10-month-old boy with advanced HIV infection who developed IRIS complicated with HLH and TMA during the course of his treatment.
- Tuberculose em Idade Pediátrica: Experiência de 12 Anos num Centro Terciário de Referência em PortugalPublication . Borges, M; Rocha, AP; Veiga de Macedo, C; Milheiro Silva, T; Gouveia, C; Candeias, F; Brito, MJIntroduction: The diagnosis of tuberculosis in children is a challenge namely because extrapulmonary tuberculosis and severe disease are more frequent in this age group. The aim of this study was to evaluate and reflect about severe tuberculosis in pediatric age, in a metropolitan area of Lisbon. Material and methods: Descriptive study about patients under 18 years of age admitted with tuberculosis disease in a tertiary pediatric hospital, from 2008 to 2019 (12 years). Results: We report 145 patients, average of 12 cases/year, with an increase in the last three years. Median age of 12.9 years, 42.8% born in Portuguese-speaking African countries and 20% had a chronic disease. The diagnosis was pulmonary tuberculosis in 52.4% (n = 76) and extrapulmonary tuberculosis in 47.6%: lymphatic (n = 26), skeletal (n = 15), miliary (n = 8), meningeal (n = 7), peritoneal/ intestinal (n = 6), pleural (n = 4), renal (n = 1), cutaneous (n = 1), thoracic wall (n = 1) and salivary glands (n = 1). The tuberculin test was positive in 78/99 (78.8%) and Interferon Gamma Release Assay in 61/90 (67.8%). In 20.7% (n = 30) acid-fast bacilli were identified in gastric aspirate/sputum and the agent was identified in 59.3% (n = 86). Tuberculosis was resistant in 11% (n = 16). Patients with extrapulmonary tuberculosis were younger (p = 0.006) and had more prolonged therapy (p < 0.001). Therapy-related complications occurred in 11% (n = 16). One patient died (with terminal cancer). Conclusion: This study highlights the need for screening of tuberculosis in children from endemic countries, patients with immunosuppression and chronic disease.