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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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COVID-19 , Corioidite , Gêmeos Monozigóticos , Humanos , COVID-19/complicações , Corioidite/tratamento farmacológico , Corioidite/virologia , Masculino , SARS-CoV-2 , Feminino , Doenças em Gêmeos , Adulto , Tomografia de Coerência ÓpticaRESUMO
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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PURPOSE: To evaluate the parafoveal macular microvasculature and the macular function in patients with retinal vasculitis associated with Behçet's uveitis. METHODS: In 14 patients with inactive Behçet's uveitis and 26 control individuals (13 with nonocular Behçet's syndrome and 13 healthy subjects), we analyzed the retinal nerve fiber layer, ganglion cell layer, full retinal thickness, foveal avascular zone area and sectorial parafoveal vascular density in the superficial vascular plexus, intermediate capillary plexus, and deep capillary plexus using SPECTRALIS optical coherence tomography (OCT) 2 and OCT angiography. Macular sensitivity was analyzed using an MP-3 microperimeter. RESULTS: Eighteen eyes (78%) had a best-corrected visual acuity ≥ 20/25. Significant differences were found in Behçet's uveitis in comparison with the controls on the OCT and OCT angiography: 14.8%, 22.4%, and 14.9% ganglion cell layer thinning in the global, nasal, and inferior sectors, respectively; 6%, 13.2%, and 7.5% full retinal thickness thinning in the superior, nasal, and inferior sectors; and 16.8%, 14.9%, 23.6%, 15.8%, and 12.6% mean deep capillary plexus density reduction in the global, superior, nasal, inferior, and temporal sectors. Microperimetry data demonstrated significant mean reductions of 21% and 23.6% in central and average macular sensitivities and 28.8%, 40.4%, 27.7%, and 24.2% in the superior, nasal, inferior, and temporal sectors, respectively. Outer plexiform layer elevations were observed in Behçet's uveitis (69.6%). CONCLUSION: Behçet's uveitis presented structural and functional macular damage despite good best-corrected visual acuity, mainly affecting the nasal sector and the deep capillary plexus. On OCT and OCT angiography, quantitative and qualitative changes can be valuable biomarkers of ocular involvement in Behçet's syndrome.
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Síndrome de Behçet , Uveíte , Humanos , Síndrome de Behçet/diagnóstico , Tomografia de Coerência Óptica/métodos , Angiofluoresceinografia/métodos , Vasos Retinianos , Testes de Campo Visual , Retina , Uveíte/diagnóstico , Uveíte/etiologia , BiomarcadoresRESUMO
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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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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Estimulação Encefálica Profunda , Tiques , Síndrome de Tourette , Humanos , Síndrome de Tourette/complicações , Síndrome de Tourette/terapia , Tiques/etiologia , Tiques/terapia , Estimulação Encefálica Profunda/efeitos adversos , Resultado do Tratamento , Globo Pálido/fisiologiaRESUMO
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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Proteínas da Membrana Plasmática de Transporte de Dopamina , Doença de Parkinson , Biomarcadores , Humanos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética , Neuroimagem/métodos , Doença de Parkinson/diagnóstico por imagem , Doença de Parkinson/patologiaRESUMO
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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Doença de Fabry , Animais , Doença de Fabry/diagnóstico , Doença de Fabry/genética , Feminino , Humanos , Masculino , Mamíferos/metabolismo , Mutação , Mutação de Sentido Incorreto , Fenótipo , alfa-Galactosidase/genética , alfa-Galactosidase/metabolismoRESUMO
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.
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BACKGROUND: The tomographic finding, which has been called the "fingerprint sign" in en face reconstructions, seems to be the result of a variety of processes that cause distension of the outer plexiform layer (OPL) and the Henle fiber layer (HFL). The aim of this paper is to describe the appearance of concentric rings at the OPL/HFL interface visualized using en face reconstructions of cross-sectional optical coherence tomography images of patients with Vogt-Koyanagi-Harada disease. METHODS: Retrospective analysis of images of six eyes of three patients obtained by cross-sectional OCT imaging and en face reconstruction at the level of the OPL/HFL interface. RESULTS: All eyes presented with a dentate or saw-tooth pattern of the OPL/HFL interface on cross-sectional OCT with corresponding concentric rings on en face OCT reconstruction, consistent with the recently published "fingerprint sign". Initial OPL/HFL interface changes were observed between the first and fourth months after treatment and resolution of VKHD associated serous retinal detachments. These OPL/HFL interface changes have persisted for many years following the resolution of the active inflammation. CONCLUSIONS: Changes in the OPL/HFL interface can be identified following successful treatment of VKHD. These included both a dentate or saw-tooth pattern on cross-sectional imaging and concentric rings or the "fingerprint sign" on en face reconstructions. These changes persisted for many years despite disease quiescence.
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PURPOSE: To describe four cases of ocular adverse events resembling intraocular inflammatory and non-inflammatory conditions following yellow fever vaccination (YFV) during a recent yellow fever (YF) outbreak in Brazil. METHODS: Charts of patients diagnosed with ocular adverse events after YFV between January 2017 and January 2019 at two tertiary referral centers in Brazil. RESULTS: Four patients (two adults and two children) are reported. Case 1 presented with typical findings of central serous chorioretinopathy which resolved spontaneously; case 2 was diagnosed with acute Vogt-Koyanagi-Harada disease; cases 3 and 4 had bilateral diffuse retinal vasculitis. In the absence of infectious and noninfectious disorders, the temporal association between stand-alone YFV and onset of ocular symptoms within 15 days was interpreted as evidence of causation. CONCLUSIONS: Clinicians should be aware of the wide spectrum of possible ocular adverse reactions to stand-alone YFV.
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Coriorretinopatia Serosa Central , Febre Amarela , Adulto , Criança , Humanos , Febre Amarela/diagnóstico , Febre Amarela/epidemiologia , Febre Amarela/prevenção & controle , Brasil/epidemiologia , Vacinação/efeitos adversos , Surtos de Doenças , Coriorretinopatia Serosa Central/etiologiaRESUMO
OBJECTIVES: To test conjunctival swabs from patients with laboratory-confirmed severe forms of coronavirus disease 2019 (COVID-19) for the presence of SARS-CoV-2 on real-time reverse-transcription polymerase chain reaction (rRT-PCR). METHODS: Fifty conjunctival swabs were collected from 50 in-patients with laboratory-confirmed severe forms of COVID-19 at the largest teaching hospital and referral center in Brazil (HCFMUSP, São Paulo, SP). The samples were tested for SARS-CoV-2 on rRT-PCR with the primers and probes described in the CDC protocol which amplify the region of the nucleocapsid N gene (2019_nCoV_N1 and 2019_nCoV_N2) of SARS-CoV-2 RNA and compared with naso/oropharyngeal swabs collected within 24 hours of the conjunctival swabs. RESULTS: Five conjunctival samples (10%) tested positive (amplification of the N1 and N2 primer/probe sets) while two conjunctival samples (4%) yielded inconclusive results (amplification of the N1 primer/probe set only). The naso/oropharyngeal swabs were positive for SARS-CoV-2 on rRT-PCR in 34 patients (68%), negative in 14 (28%) and inconclusive in 2 (4%). The 5 patients with positive conjunctival swabs had positive (n=2), negative (n=2) or inconclusive (n=1) naso/oropharyngeal swabs on rRT-PCR. Patients with negative or inconclusive naso/oropharyngeal swabs had the diagnosis of COVID-19 confirmed by previous positive rRT-PCR results or by serology. CONCLUSION: This is the first study to present conjunctival swab rRT-PCR results for SARS-CoV-2 in a Brazilian population. In our sample of 50 patients with severe forms of COVID-19, 10% had positive conjunctival swabs, most of which were correlated with positive naso/oropharyngeal rRT-PCR results.
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COVID-19 , Brasil , Humanos , RNA Viral , Reação em Cadeia da Polimerase em Tempo Real , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transcrição Reversa , SARS-CoV-2RESUMO
BACKGROUND: Acute post-cataract endophthalmitis (APE) is a rare complication potentially causing irreversible visual loss. A 10-year study of APE was conducted to determine its incidence, microbiological spectra and antibiotic resistance profile of APE-related pathogens at a major tertiary referral center in Brazil. METHODS: APE cases reported between January 2010 and December 2019 were included. Phacoemulsification and extracapsular cataract techniques were eligible; combined procedures, traumatic and congenital cataract were excluded. Vitreous samples were cultured and antimicrobial resistance was compared for the periods of 2010-2014 and 2015-2019. The results were analyzed with Fisher's exact test. RESULTS: Our sample consisted of 40,491 cataract surgeries and 51 (0.126%) APE cases. Culture was positive in 35 cases (71.4%), of which 31 (88.6%) Gram-positive, 3 (8.6%) Gram-negative, and 1 (2.9%) fungal. The most frequently isolated organism was Staphylococcus epidermidis (n = 17/35, 48.6%), followed by Staphylococcus aureus (n = 4/35, 11.4%). From 2010-2014 to 2015-2019, antimicrobial resistance increased against moxifloxacin (11.1-54.5%, p = 0.07), ciprofloxacin (54.5-72.7%, p = 0.659) and oxacillin (66.7-93.3%, p = 0.13). CONCLUSIONS: The observed incidence and microbial spectra were compatible with previous studies. A trend towards growing moxifloxacin and ciprofloxacin resistance was observed. Surveillance remains crucial to prevent treatment failure from antimicrobial resistance.
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Purpose: To assess the effectiveness of intravitreal (IV) bevacizumab and the need for systemic immunosuppressive therapy (IMT) in choroidal neovascularization (CNV) in Vogt-Koyanagi-Harada disease (VKHD).Methods: CNV treatment consisted of three monthly IV bevacizumab injections as a loading dose; if intra/subretinal fluid (IRF) persisted, further injections were proceeded besides increment in systemic IMT. Outcome analyses at 3, 6, and 12 months were visual acuity, central foveal thickness, macular volume, IRF, and addition of IMT.Results: Seven eyes of six patients were included. Five patients (five eyes) completed a 12-month follow-up and received 12 IV bevacizumab injections. At the 12-month follow-up, visual acuity improved in four out of five eyes (p = .0568); all eyes had decreased macular volume (p = .0431) but they still had persistent IRF; and all cases needed IMT introduction/increment.Conclusion: Intravitreal bevacizumab in association with systemic IMT was effective for CNV in VKHD. Active CNV may indicate disease of inadequate clinical control.
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Inibidores da Angiogênese/uso terapêutico , Bevacizumab/uso terapêutico , Neovascularização de Coroide/tratamento farmacológico , Síndrome Uveomeningoencefálica/complicações , Adulto , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/fisiopatologia , Feminino , Angiofluoresceinografia , Seguimentos , Humanos , Injeções Intravítreas , Pessoa de Meia-Idade , Estudos Prospectivos , Líquido Sub-Retiniano , Tomografia de Coerência Óptica , Resultado do Tratamento , Síndrome Uveomeningoencefálica/fisiopatologia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologiaRESUMO
Aims: To evaluate associations between vision-related (VR-) and health-related (HR-) QoL metrics and inflammation and treatment in non-acute VKHD patients.Methods: Cross-sectional study in a tertiary center in Sao Paulo, Brazil with 22 patients with non-acute VKHD followed prospectively for ≥12 months since acute disease onset, with systematic evaluation and predefined treatment protocols. VR- and HR-QoL aspects were assessed by VFQ-25 and SF-36 questionnaires, respectively. Associations between the questionnaire's subscale item scores with inflammation and systemic medical therapies were assessed.Results: After generalized linear model analysis, worse VA, severe fundus changes, fluctuation of VA and fluctuation of anterior chamber cells impacted negatively on VR-QoL items. Higher cumulative total dose of corticosteroids and use of immunosuppressive therapy impacted negatively on both questionnaires.Conclusion: Worse VA, clinical inflammation and systemic treatment have a significant impact on VR- and HR-QoL questionnaires. Subclinical choroidal inflammation did not seem to impact QoL.
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Glucocorticoides/uso terapêutico , Imunossupressores/uso terapêutico , Inflamação/etiologia , Qualidade de Vida , Autorrelato , Síndrome Uveomeningoencefálica/tratamento farmacológico , Acuidade Visual , Adulto , Idoso , Brasil/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Humanos , Incidência , Inflamação/diagnóstico , Inflamação/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Inquéritos e Questionários , Síndrome Uveomeningoencefálica/complicações , Síndrome Uveomeningoencefálica/epidemiologia , Adulto JovemRESUMO
PURPOSE: To evaluate associations between functional and structural measurements in patients with non-acute VKHD. METHODS: In this cross-sectional study, 16 non-acute VKHD patients (32 eyes; 14 female) were evaluated with multifocal electroretinogram (mfERG), standardized automated perimetry (SAP) and optical coherence tomography (OCT)examinations. All included patients had a minimum 12 months of follow-up from acute onset and were participants of an ongoing prospective study since acute phase with systematic clinical imaging evaluations and electroretinogram examinations within a predefined treatment. Age- and gender-matched controls were included. Main outcomes were functional and structural abnormalities and their correlation; secondary outcome was correlation of these findings with clinical characteristics, including fundus abnormalities. RESULTS: SAP and mfERG parameters were significantly worse in patients than in controls. Fourteen eyes (43.7%) had disrupted ellipsoid zone (EZ); visual acuity (VA) was similar between eyes with intact or disrupted EZ. Eyes with intact and disrupted EZ differed significantly concerning N1 and P1 amplitudes and N1 peak time values on mfERG and mean sensitivity (MS), central sensitivity (CS), foveal threshold, visual field index, mean deviation (MD) and pattern standard deviation values on SAP. The area under the curve on receiver operating curves for P1 amplitude was 0.81 (cut-off value = 34.7 nV/deg2 ) and for MD value was 0.84 (cut-off value = -5.2 dB). Central retinal thickness (CRT) significantly correlated with N1 and P1 amplitudes and P1 peak time values on mfERG (r = 0.354, r = 0.442 and r = -0.405, respectively) and MD, MS, CS and fovea threshold (log values) on SAP (r = 0.372, r = 0.406, r = 0.431 and r = 0.414, respectively). Statistically significant associations were found with the presence of peripapillary atrophy and recurrent anterior uveitis with a worse MD value (p = 0.004 and p < 0.001, respectively). CONCLUSION: In non-acute VKHD, disrupted EZ and reduced CRT were correlated with impaired mfERG and SAP parameters, even in patients with good VA.