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1.
Arch. Soc. Esp. Oftalmol ; 98(6): 360-364, jun. 2023. ilus
Artigo em Espanhol | IBECS | ID: ibc-221229

RESUMO

El síndrome periódico asociado a la criopirina es una enfermedad rara y probablemente infradiagnosticada. Se presenta con manifestaciones sistémicas, entre ellas oftalmológicas, muy diversas, por lo que su diagnóstico supone un reto para el clínico. Presentamos el caso de una niña de 4 años en la que la identificación de papiledema en el examen oftalmológico constituyó el signo guía para el diagnóstico de síndrome periódico asociado a la criopirina. Pretendemos así concienciar sobre esta enfermedad de graves implicaciones y cuyo diagnóstico precoz resulta esencial para los afectados, para que sea tenido en cuenta con mayor frecuencia como diagnóstico diferencial (AU)


Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis (AU)


Assuntos
Humanos , Feminino , Pré-Escolar , Síndromes Periódicas Associadas à Criopirina/complicações , Síndromes Periódicas Associadas à Criopirina/diagnóstico , Papiledema/diagnóstico por imagem , Papiledema/etiologia , Diagnóstico Diferencial
2.
Arch Soc Esp Oftalmol (Engl Ed) ; 98(6): 360-364, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37121396

RESUMO

Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis.


Assuntos
Síndromes Periódicas Associadas à Criopirina , Papiledema , Feminino , Humanos , Pré-Escolar , Síndromes Periódicas Associadas à Criopirina/complicações , Síndromes Periódicas Associadas à Criopirina/diagnóstico , Papiledema/etiologia , Papiledema/complicações , Diagnóstico Diferencial
3.
Eur J Clin Nutr ; 58(3): 449-55, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-14985682

RESUMO

OBJECTIVE: Biochemical and haematological parameters of nutritional interest were determined in the serum of opiate addicts in order to compare them with those obtained in healthy subjects. Linear discriminant analysis was applied for the differentiation of the opiate addicts. SUBJECTS: Sera of 106 opiate addicts in detoxification treatment (n=19) or in Methadone Maintenance Treatment Program (MMTP) (n=87) were studied. DESIGN: : The determination of classical biochemical and haematological parameters in blood samples was carried out using standardized methods. Determination of retinol and alpha-tocopherol was carried out by high-performance liquid chromatography with diode-array detector. Folic acid and vitamin B(12) were determined using competitive binding techniques. Minerals were determined by flame emission spectrometry (Na and K) and atomic absorption spectrometry with air-acetylene flame (Ca, Mg, Fe, Cu and Zn) or with hydride generation (Se). Phosphorous was determined using a colorimetric method with ammonium molibdate. All statistical analyses were performed by means of the SPSS version 10.0 software for Windows. RESULTS: Stepwise linear discriminant analysis simplified the system to the following variables: Na, K, Mg, number of leucocytes, triglycerides, GPT, glucose, albumin, retinol and folic acid; and 90.1% (86.4% after crossvalidation) of correct classification was obtained. Representing the first and second discriminant functions, the control groups were well separated from opiate addicts. CONCLUSIONS: Applying linear discriminant analysis on several biochemical and haematological parameters, the opiate addicts could clearly be differentiated from the control individuals, and a tendency to differentiate the opiate addicts in MMTP and in detoxification treatment was observed.


Assuntos
Testes Hematológicos , Minerais/sangue , Transtornos Relacionados ao Uso de Opioides/sangue , Vitaminas/sangue , Adulto , Ácido Ascórbico/análise , Ácido Ascórbico/sangue , Estudos de Casos e Controles , Análise Discriminante , Feminino , Nível de Saúde , Humanos , Masculino , Metadona/uso terapêutico , Pessoa de Meia-Idade , Minerais/análise , Vitamina A/sangue , Vitamina B 12/análise , Vitamina B 12/sangue , Vitaminas/análise , alfa-Tocoferol/análise , alfa-Tocoferol/sangue
4.
J Pharm Biomed Anal ; 28(5): 991-7, 2002 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-12039642

RESUMO

A fast, selective and economical method for the determination of retinol and alpha-tocopherol is presented. Both vitamins are separated by high-performance liquid chromatography (HPLC) in less than 4 min using an isocratic elution with methanol. The robustness of the method was checked in real samples, obtaining relative standard deviation lower than 3%. The described method was satisfactorily applied to serum samples proceeding of patients enrolled in a METHADONE maintenance treatment program. The retinol concentrations in the serum of these patients fell into the normal interval of concentrations; however, the serum alpha-tocopherol contents were higher than the normal values.


Assuntos
Vitamina A/sangue , Vitamina E/sangue , Cromatografia Líquida de Alta Pressão , Dependência de Heroína/sangue , Dependência de Heroína/reabilitação , Humanos , Indicadores e Reagentes , Metadona/uso terapêutico , Entorpecentes/uso terapêutico , Padrões de Referência , Valores de Referência
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