Browsing by Author "Roque, R"
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- Impact of brain biopsy on management of nonneoplastic brain diseasePublication . Santos, M; Roque, R; Rainha Campos, A; Albuquerque, L; Pimentel, JIntroduction: Diagnostic yield of brain biopsy in neoplastic brain disease is high and its clinical impact is well established. In nonneoplastic brain disease with negative conventional investigation, decision to undergo invasive procedures is difficult due to its inherent risk and known lower diagnostic yield. Research question: What is the clinical impact of brain biopsy results on management of nonneoplastic brain disease ? Material and methods: A multidisciplinary team retrospectively reviewed and included all nonneoplastic brain disease cases submitted to biopsy between 2009 and 2019, in a tertiary hospital in Lisbon. Baseline characteristics were registered, including immunosuppression status, diagnostic workup, and treatment prior to biopsy. Diagnostic yield, clinical impact and in-hospital complication rates were assessed. Results: Sixty-four patients were included, 20 (31.3%) of them immunosuppressed (15 HIV + patients). Thirty-five (67.7%) were previously treated with steroids or antiinfectious agents, with higher percentage (93.3%) in the immunosuppressed group. Biopsy results were diagnostic in 46 (71.9%) cases. More frequent diagnosis was infectious in 20 (31.2%), neoplastic in 12 (18.8%) and inflammatory diseases in 8 (12.5%). Brain biopsy resulted on impact on patient's clinical management in 56 (87.5%), of which 37(57.8%) were submitted to treatment change. In-hospital complications were registered in 4 (6.6%) patients. Discussion and conclusion: Brain biopsy had clinical impact, including a change in treatment, in most patients studied, and may be considered a useful diagnostic option in nonneoplastic brain disease. However, associated complication rate is not negligible, and previous thorough workup, patient selection and risk-benefit assessment are important.
- Ptosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatmentPublication . Santos Silva, C; Nunes Vicente, B; Martins, B; Fonseca, AC; Coelho, P; Roque, R; Cota de Medeiros, F; Oliveira Santos, M; de Carvalho, MObjective: To present cases of ptosis in HIV-1 patients on long-term antiretroviral therapy (ART) and review the existing literature. Methods: Five HIV-1-positive patients with slowly progressive bilateral ptosis underwent a comprehensive diagnostic evaluation, including imaging studies, neurophysiological testing, muscle biopsy, and genetic analysis. A literature review was conducted. Results: On clinical examination, all patients presented with bilateral symmetrical non-fatigable ptosis, three exhibited facial lipoatrophy and two also had mild multidirectional ophthalmoparesis and all had ocular abnormalities in Hess screen test. Additionally, one patient displayed proptosis, three had floppy lower eyelids, and four presented with exotropia. Anti-acetylcholine receptor antibodies were negative in all patients. Brain magnetic resonance imaging (MRI), motor unit potential analysis, and single-fiber electromyography were unremarkable. Orbital MRI revealed introrbital fat expansion in one patient, and limb muscle biopsies were inconclusive in two cases. Blood genetic testing for chronic progressive external ophthalmoplegia was negative in all patients. A total of 30 similar cases have been documented in the literature, with some studies reporting key findings such as muscle histology indicative of mitochondrial myopathy, MRI revealing patchy extraocular muscle hyperintensity, and muscle genetic testing identifying mitochondrial deoxyribonucleic acid (DNA) deletions. Ptosis surgical repair appears to be the most effective treatment. Conclusion: HIV patients on long-term ART may develop ocular muscle involvement due to mitochondrial dysfunction, with bilateral ptosis being the primary manifestation. Diagnosis is challenging and requires the exclusion of other conditions. Ptosis surgery can significantly improve quality of life.