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1.
Arq. bras. oftalmol ; 70(6): 971-974, nov.-dez. 2007. tab
Article in Portuguese | LILACS | ID: lil-474104

ABSTRACT

PURPOSE: The association of retinal vein occlusion and hereditary thrombophilia abnormalities is not established, with controversial results in the literature. This study investigates the association between retinal vein occlusion and three thrombophilic mutations: factor V 1691A (factor V Leiden), prothrombin 20210A (PT 20210A) and homozygous methylenetetrahydrofolate reductase 677T (MTHFR 677TT). METHODS: 55 consecutive retinal vein occlusion patients and 55 controls matched by age, gender and race, were tested for the presence of the following mutations: factor V Leiden, PT 20210A and MTHFR 677TT. The frequencies of the three mutations in cases and controls were compared. RESULTS: Factor V Leiden was found in 3.6 percent of patients and in 0 percent of controls; PT 20210A was found in 1.8 percent of patients and 3.6 percent of controls, (matched-pair odds ratio, 0.5; 95 percent confidence interval, 0.04 to 5.51); MTHFR 677TT was found in 9 percent of patients and 9 percent of controls (matched-pair odds ratio, 1; 95 percent confidence interval, 0.92 to 3.45). Arterial hypertension was more frequent in patients than controls (matched-pair odds ratio, 3.4; 95 percent confidence interval, 1.25 to 9.21). CONCLUSIONS: This study suggests that thrombophilic mutations are not risk factors for RVO. Routine investigation of hereditary thrombophilia in these patients is not justified.


OBJETIVOS: A associação entre oclusão venosa retiniana e trombofilias hereditárias não está estabelecida, com resultados controversos na literatura. O presente estudo investiga a associação entre a oclusão venosa retiniana e três mutações trombofílicas: fator V 1691A (fator V Leiden), protrombina 20210A (PT 20210A) e mutação C677T do gene da metileno-tetra-hidro-folato redutase (MTHFR 677TT). MÉTODOS: Cinquenta e cinco pacientes portadores de oclusão venosa retiniana e 55 controles pareados por idade, sexo e raça foram testados para a presença das seguintes mutações: fator V Leiden, PT 20210A e MTHFR 677TT. As freqüências das três mutações em casos e controles foram comparadas. RESULTADOS: Fator V Leiden foi encontrado em 3,6 por cento dos pacientes e em 0 por cento dos controles; PT 20210A foi encontrada em 1.8 por cento dos pacientes e em 3,6 por cento dos controles, (odds ratio, 0,5; 95 por cento IC, 0,04 to 5,51); MTHFR 677TT foi encontrada em 9 por cento dos pacientes e em 9 por cento dos controles (odds ratio, 1; 95 por cento IC, 0,92 to 3,45). Hipertensão arterial foi encontrada mais freqüentemente em pacientes do que em controles (odds ratio, 3,4; 95 por cento IC, 1,25 to 9,21). CONCLUSÕES: O presente estudo sugere que mutações trombofílicas não são fatores de risco para oclusão venosa retiniana. A investigação rotineira para trombofilias hereditárias neste grupo de pacientes não é indicada.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Factor V/genetics , Mutation , /genetics , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Thrombophilia/genetics , Case-Control Studies , Genetic Predisposition to Disease , Genotype , Odds Ratio , Phenotype , Polymerase Chain Reaction , Risk Factors
2.
Arq Bras Oftalmol ; 70(6): 971-4, 2007.
Article in English | MEDLINE | ID: mdl-18235909

ABSTRACT

PURPOSE: The association of retinal vein occlusion and hereditary thrombophilia abnormalities is not established, with controversial results in the literature. This study investigates the association between retinal vein occlusion and three thrombophilic mutations: factor V 1691A (factor V Leiden), prothrombin 20210A (PT 20210A) and homozygous methylenetetrahydrofolate reductase 677T (MTHFR 677TT). METHODS: 55 consecutive retinal vein occlusion patients and 55 controls matched by age, gender and race, were tested for the presence of the following mutations: factor V Leiden, PT 20210A and MTHFR 677TT. The frequencies of the three mutations in cases and controls were compared. RESULTS: Factor V Leiden was found in 3.6% of patients and in 0% of controls; PT 20210A was found in 1.8% of patients and 3.6% of controls, (matched-pair odds ratio, 0.5; 95% confidence interval, 0.04 to 5.51); MTHFR 677TT was found in 9% of patients and 9% of controls (matched-pair odds ratio, 1; 95% confidence interval, 0.92 to 3.45). Arterial hypertension was more frequent in patients than controls (matched-pair odds ratio, 3.4; 95% confidence interval, 1.25 to 9.21). CONCLUSIONS: This study suggests that thrombophilic mutations are not risk factors for RVO. Routine investigation of hereditary thrombophilia in these patients is not justified.


Subject(s)
Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Mutation , Prothrombin/genetics , Retinal Vein Occlusion/genetics , Thrombophilia/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Odds Ratio , Phenotype , Polymerase Chain Reaction , Risk Factors
3.
J Neuroophthalmol ; 25(1): 25-8, 2005 Mar.
Article in English | MEDLINE | ID: mdl-15756129

ABSTRACT

A 32-year-old patient with recurrent sinusitis had severe visual loss from optic neuropathy. Imaging revealed severe bone destruction and soft tissue densities of the paranasal sinuses and enhancement of the dura of the frontal sinuses, optic canals, and superior orbital fissures bilaterally. Endoscopic sinusectomy with biopsy showed granulomatous vasculitis compatible with Wegener granulomatosis (WG). The patient was treated with intravenous and oral corticosteroids and oral cyclophosphamide that led to rapid and dramatic visual recovery. This case draws attention to the fact that optic neuritis may be an early inflammatory manifestation of WG and that rapid diagnosis and aggressive anti-inflammatory treatment is critical before inflammation of arteries leads to infarction and irreversible visual loss.


Subject(s)
Granulomatosis with Polyangiitis/complications , Optic Neuritis/etiology , Sinusitis/etiology , Vision Disorders/etiology , Adult , Cyclophosphamide/therapeutic use , Drug Therapy, Combination , Glucocorticoids/therapeutic use , Humans , Magnetic Resonance Imaging , Male , Optic Neuritis/complications , Prednisone/therapeutic use , Recurrence , Sinusitis/diagnosis , Treatment Outcome , Vision Disorders/physiopathology , Visual Acuity , Visual Fields
4.
Arq. neuropsiquiatr ; 56(4): 734-43, dez. 1998. graf, tab
Article in Portuguese | LILACS | ID: lil-226012

ABSTRACT

Funcionários de uma empresa (n=993) foram entrevistados quanto à ocorrência de cefaléias durante um período retrospectivo de 30 dias. A prevalência foi 49,8 por cento, com frequência de 4,3+7,0 episódios e duraçao de 12,2+21,4 horas. Os diagnósticos baseados na classificaçao da Sociedade Internacional de Cefaléias, foram enxaqueca (5,5 por cento), cefaléia do tipo tensao (CTT) episódica (26,4 por cento), CTT crônica (1,7 por cento) e outras cefaléias (16,2 por cento). As mulheres foram mais acometidas e tiveram proporcionalmente mais enxaquecas que os homens. Cerca de 10 por cento dos pacientes relataram dor suficientemente intensa a ponto de prejudicar seu desempenho no trabalho, o que representou 538,75 horas nao trabalhadas. O custo indireto proporcionado pela interferência no trabalho foi estimado para cada cefaléia. O potencial prejuízo projetado à empresa devido às cefaléias é R$ 145,64 por funcionário, ou R$ 144 682,39 por ano. Como a enxaqueca é a cefaléia de maior custo, seu controle é particularmente importante no ambiente de trabalho. Há meios eficazes para reduzir sua frequência, com reflexos positivos no bem-estar e na produtividade do indivíduo. A relaçao custo-benefício favorece claramente a instituiçao de programas de prevençao e tratamento contra cefaléias crônicas.


Subject(s)
Female , Humans , Adolescent , Aged , Middle Aged , Adult , Headache/economics , Headache/epidemiology , Occupational Diseases/economics , Occupational Diseases/epidemiology , Brazil/epidemiology , Cost-Benefit Analysis , Headache/prevention & control , Prevalence , Work/economics
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