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2.
BMJ Case Rep ; 20132013 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-23417933

RESUMO

A middle-aged asymptomatic patient was referred to the eye clinic by her optician because of unusual optic nerve heads. She was found to have optic disc pits with bilateral serous retinal detachments which were non-progressive. She did not need any treatment and was safely followed up in the community. This uncommon condition is discussed along with possible pathophysiology and treatment.


Assuntos
Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Descolamento Retiniano/etiologia , Diagnóstico Diferencial , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Pessoa de Meia-Idade , Doenças do Nervo Óptico/complicações , Doenças do Nervo Óptico/diagnóstico , Descolamento Retiniano/diagnóstico , Acuidade Visual
3.
Int Heart J ; 50(4): 407-19, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19609046

RESUMO

Microvascular angina is a condition characterized by angina-like chest pain and normal coronary angiography. Endothelial dysfunction and systemic inflammation with elevated serum high-sensitive C-reactive protein (hsCRP) levels play a role in its pathogenesis. This study aimed to explore the possible relation between CRP, brachial flow-mediated dilatation (FMD), and microvascular angina.We included 21 patients with attacks of chest pain diagnosed as microvascular angina (study group) and 10 normal asymptomatic subjects (control group). Patients and controls were thoroughly examined clinically and by echocardiography, electrocardiography, and brachial FMD (using external brachial ultrasonography). Serum hsCRP and uric acid levels were assessed in all subjects.A significantly higher mean hsCRP level was found in the study group compared to controls (11.5+/-3.8 versus 3.34+/-1.5 mg/L; P<0.001). FMD of the brachial artery showed significant impairment in patients with microvascular angina compared to controls (0.16+/-0.06 versus 0.76+/-0.09 mm; P<0.001). There were significantly higher total cholesterol (196.1+/-44.4 versus 159.8+/-14.5 mg/dL; P=0.018) and triglyceride levels (185.0+/-103.2 versus 113.0+/-17.6 mg/dL; P=0.038) in the patients compared to controls; but there was a statistically insignificant difference in mean serum uric acid levels between these two groups. There were no significant correlations between the brachial FMD and any of the clinical variables studied (apart from ankle/brachial index). Microvascular angina may have an inflammatory element (reflected as a higher serum hsCRP level), together with a contribution by endothelial dysfunction (reflected as impaired brachial artery FMD); while serum uric acid is possibly not associated with microvascular angina.


Assuntos
Proteína C-Reativa/metabolismo , Endotélio Vascular/fisiopatologia , Angina Microvascular/sangue , Angina Microvascular/fisiopatologia , Ácido Úrico/sangue , Vasodilatação/fisiologia , Adulto , Artéria Braquial/fisiologia , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Humanos , Lipídeos/sangue , Masculino , Angina Microvascular/diagnóstico por imagem , Pessoa de Meia-Idade , Fluxo Sanguíneo Regional/fisiologia , Ultrassonografia
5.
Eye (Lond) ; 8 ( Pt 3): 284-7, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-7958031

RESUMO

The case of a 45-year-old woman with gyrate atrophy of the choroid and retina is documented. Additional features in this case, to the authors' knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes. Gyrate atrophy is a rare autosomal recessive degenerative disease of the choroid and retina and is accompanied by defective ornithine metabolism. Simell and Takki demonstrated the association with hyperornithinaemia in 1973. The main metabolic features are those of hyperornithinaemia and ornithuria caused by a deficiency of the mitochondrial matrix enzyme, ornithine aminotransferase (OAT). The responsible human gene has been localised to chromosome 10. Despite the generalised deficiency of OAT, the literature indicates significant pathological involvement of the eye only. Ophthalmological features of the disease are myopia (up to 10-20 dioptres), night blindness, constricted visual fields and complicated cataracts. The clinical picture has been detailed previously by various authors. The case of a 45-year-old woman with gyrate atrophy and hyperornithinaemia is documented here. She has been followed up for 12 years and fully investigated. Additional features in this case, to our knowledge not previously described in gyrate atrophy, are massive cystinuria, massive lysinuria, axial hypermetropia and diabetes.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/complicações , Cistinúria/complicações , Atrofia Girata/urina , Lisina/urina , Ornitina/sangue , Adulto , Diabetes Mellitus Tipo 1/complicações , Feminino , Angiofluoresceinografia , Humanos , Hiperopia/complicações , Ornitina-Oxo-Ácido Transaminase/deficiência
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