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ABSTRACT Unvaccinated identical twins developed bilateral anterior uveitis soon after the onset of coronavirus disease 2019 symptoms. During follow-up, both patients developed choroiditis, and one twine developed posterior scleritis and serous retinal detachment. Prompt treatment with oral prednisone ameliorated the lesions, and no recurrence was observed at the 18-month follow-up. Choroiditis may rarely be associated with severe acute respiratory syndrome coronavirus 2 infection, and it responds well to corticosteroid therapy. Although the exact mechanism is unknown, we hypothesize that the virus may act as an immunological trigger for choroiditis.

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Unvaccinated identical twins developed bilateral anterior uveitis soon after the onset of coronavirus disease 2019 symptoms. During follow-up, both patients developed choroiditis, and one twine developed posterior scleritis and serous retinal detachment. Prompt treatment with oral prednisone ameliorated the lesions, and no recurrence was observed at the 18-month follow-up. Choroiditis may rarely be associated with severe acute respiratory syndrome coronavirus 2 infection, and it responds well to corticosteroid therapy. Although the exact mechanism is unknown, we hypothesize that the virus may act as an immunological trigger for choroiditis.

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PURPOSE: To present paradoxical reaction (PR) in three cases with ocular tuberculosis (OTB) treated with antitubercular therapy (ATT), highlighting diagnostic challenges and treatment strategies. METHODS: We retrospectively reviewed clinical records of three OTB patients presenting with paradoxical worsening after ATT initiation at two Brazilian university hospitals. RESULTS: The patients (2 males, 1 female) experienced worsening clinical presentation (increased inflammation, vision loss) within two to three weeks after initiating ATT. One patient who was HIV-positive with unilateral multifocal choroiditis developed PR soon after starting antiretroviral therapy. The second patient presented with a choroidal tuberculoma in both eyes. The third patient also had multifocal choroiditis and developed a localized choroidal elevation with a double-layer sign as a manifestation of PR. All patients were maintained on ATT therapy in association with corticosteroids and experienced improvement of inflammatory signs. CONCLUSION: This case series highlights the potential for PR in OTB patients. Close monitoring and prompt therapeutic adjustments are crucial for management success.

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In this case report, a patient with Tourette syndrome was admitted to the emergency department with nonrhythmic, continuous, generalized hyperkinetic movements associated with muscle contractions in the trunk, neck, and upper and lower limbs caused by depletion of the deep brain stimulation battery.

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AIMS: To investigate the changes in quality-of-life (QoL) metrics at a 24-month interval in non-acute VKHD patients and their association with inflammation, treatment, and visual function. METHODS: SF-36 and VFQ-25 questionnaires were administered at two 24-month-apart moments to 22 non-acute VKHD patients followed for ≥12 months since acute disease onset. "Improvement," "unchanged," or "worsening" in questionnaires scores (difference >5-point) between M1 and M2 and their associations were sought. RESULTS: Absence of systemic treatment or optic disc hyperfluorescence was associated with improved general health (SF-36). Improvement in binocular contrast sensitivity resulted in better ocular pain score; absence of anterior uveitis relapse, stable fundus findings, no use of cyclosporine or no intravitreal injections resulted in unchanged/better dependency score; no intravitreal injections resulted in unchanged/better mental health score (VFQ-25). CONCLUSION: Stability/improvement in QoL scores was associated with controlled inflammation, better visual function, and no need for treatment. Subclinical inflammatory signs did not impact QoL scores.

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BACKGROUND: the diagnosis of Parkinson's disease (PD) can be challenging, especially in the early stages, albeit its updated and validated clinical criteria. Recent developments on neuroimaging in PD, altogether with its consolidated role of excluding secondary and other neurodegenerative causes of parkinsonism, provide more confidence in the diagnosis across the different stages of the disease. This review highlights current knowledge and major recent advances in magnetic resonance and dopamine transporter imaging in aiding PD diagnosis. OBJECTIVE: This study aims to review current knowledge about the role of magnetic resonance imaging and neuroimaging of the dopamine transporter in diagnosing Parkinson's disease. METHODS: We performed a non-systematic literature review through the PubMed database, using the keywords "Parkinson", "magnetic resonance imaging", "diffusion tensor", "diffusion-weighted", "neuromelanin", "nigrosome-1", "single-photon emission computed tomography", "dopamine transporter imaging". The search was restricted to articles written in English, published between January 2010 and February 2022. RESULTS: The diagnosis of Parkinson's disease remains a clinical diagnosis. However, new neuroimaging biomarkers hold promise for increased diagnostic accuracy, especially in earlier stages of the disease. CONCLUSION: Future validation of new imaging biomarkers bring the expectation of an increased neuroimaging role in the diagnosis of PD in the following years.

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The deficiency or absence of the lysosomal hydrolase α-Galactosidase A results in Fabry disease (FD), a rare and underdiagnosed X-linked disorder. The symptoms caused by FD have a direct relation with the variant present in the gene coding α-Galactosidase A (GLA) and enzyme residual activity, and it can vary drastically between men and women of the same family. Here, we present four novel variants found in patients with suspicion of FD. The patients were screened for FD by enzymatic activity and/or DNA sequencing, which showed four novel GLA missense variants. To confirm the potential pathogenicity of these variants, we employed site-directed mutagenesis. GLA wild-type and mutant plasmids were transfected into mammalian cells; RNA and proteins were extracted for expression and enzymatic activity analysis. The patients presented the variants p.Ile133Asn, p.Lys140Thr, p.Lys168Gln and p.Pro323Thr in the GLA. In vitro analysis showed pathogenic potential of three variants and one tolerated variant. The variants p.Ile133Asn and p.Lys168Gln showed no residual activity and, therefore, leading to classical phenotype, and the variant p.Lys140Thr, which presented 22% of residual activity, was considered a mild variant leading to non-classical phenotype. The variant p.Pro323Thr presented 66.7% of residual activity and alone, it is not enough to cause FD.

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ABSTRACT Background: the diagnosis of Parkinson's disease (PD) can be challenging, especially in the early stages, albeit its updated and validated clinical criteria. Recent developments on neuroimaging in PD, altogether with its consolidated role of excluding secondary and other neurodegenerative causes of parkinsonism, provide more confidence in the diagnosis across the different stages of the disease. This review highlights current knowledge and major recent advances in magnetic resonance and dopamine transporter imaging in aiding PD diagnosis. Objective: This study aims to review current knowledge about the role of magnetic resonance imaging and neuroimaging of the dopamine transporter in diagnosing Parkinson's disease. Methods: We performed a non-systematic literature review through the PubMed database, using the keywords "Parkinson", "magnetic resonance imaging", "diffusion tensor", "diffusion-weighted", "neuromelanin", "nigrosome-1", "single-photon emission computed tomography", "dopamine transporter imaging". The search was restricted to articles written in English, published between January 2010 and February 2022. Results: The diagnosis of Parkinson's disease remains a clinical diagnosis. However, new neuroimaging biomarkers hold promise for increased diagnostic accuracy, especially in earlier stages of the disease. Conclusion: Future validation of new imaging biomarkers bring the expectation of an increased neuroimaging role in the diagnosis of PD in the following years.

RESUMO Antecedentes: O diagnóstico da doença de Parkinson (DP) pode ser desafiador, principalmente nas fases iniciais da doença, embora tenha critérios clínicos atualizados e validados. Os avanços recentes em neuroimagem na DP, além do seu papel já consolidado de excluir causas secundárias e outras causas neurodegenerativas de parkinsonismo, tem contribuído para uma maior confiabilidade no diagnóstico em diferentes estágios da doença. Nesta revisão, nós destacamos os principais avanços de ressonância magnética e imagem do transportador de dopamina em auxiliar o diagnóstico de DP. Objetivo: realizar uma revisão acerca do conhecimento atual sobre o papel da ressonância magnética e imagem do transportador de dopamina no diagnóstico de doença de Parkinson. Método: Realizamos uma revisão não sistemática da literatura através da base de dados PubMed, utilizando as palavras-chave "Parkinson", "magnetic resonance imaging", "diffusion tensor", "diffusion-weighted", "neuromelanin", "nigrosome-1", "single-photon emission computed tomography", "dopamine transporter imaging". A busca foi restrita a artigos escritos em inglês, publicados entre janeiro de 2010 e fevereiro de 2022. Resultados: O diagnóstico de doença de Parkinson continua sendo um diagnóstico clínico, contudo, novos biomarcadores de neuroimagem são promissores para o aumento da acurácia diagnóstica, especialmente em fases mais precoces da doença. Conclusão: A validação futura de novos biomarcadores de imagem traz a expectativa de um maior papel da neuroimagem no diagnóstico de doença de Parkinson nos próximos anos.