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1.
Internist (Berl) ; 61(2): 213-216, 2020 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-31915842

RESUMO

A female patient presented with exertional dyspnea, myalgia, a petechial rash of the lower extremities and pronounced gingivitis. The biochemical test results showed the presence of anemia. The patient had a known eating disorder and on questioning about eating habits admitted that she did not eat any fruit or vegetables. This led to the suspicion of a vitamin C deficiency, which was confirmed by high-pressure liquid chromatography. The patient was subsequently treated with 1000 mg ascorbic acid daily for 1 month whereby the clinical symptoms and anemia improved within a few weeks.


Assuntos
Deficiência de Ácido Ascórbico/diagnóstico , Gengivite , Púrpura , Ácido Ascórbico/uso terapêutico , Deficiência de Ácido Ascórbico/complicações , Deficiência de Ácido Ascórbico/tratamento farmacológico , Dispneia/etiologia , Feminino , Gengivite/etiologia , Humanos , Extremidade Inferior , Pessoa de Meia-Idade , Mialgia/etiologia , Púrpura/etiologia
2.
Exp Clin Endocrinol Diabetes ; 121(7): 436-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23775136

RESUMO

AIMS/INTRODUCTION: Glyoxalase 1 catalyses the detoxification of methylglyoxal, a major precursor of advanced glycation end products associated with aging, neurodegenerative diseases, and microvascular complications of diabetes. Here, we examine a possible association of a single nucleotide polymorphism of glyoxalase 1 gene (Glo1 A332C, rs4746 or rs2736654) with the prevalence of microvascular diabetic complications in patients with type 1 and type 2 diabetes. MATERIALS AND METHODS: Genotyping was performed in 209 patients with type 1 and 524 patients with type 2 diabetes using polymerase chain reaction and subsequent cleavage by restriction endonuclease Bsa I. RESULTS: Frequencies of the glyoxalase 1 genotypes were different with respect to diabetes type with a significantly higher prevalence of A332A-genotype in type 1 diabetes (35.9% vs. 27.3%; p=0.03). In type 1 diabetes, there was no correlation of any genotype with diabetic retinopathy, nephropathy or neuropathy. In contrast, type 2 diabetic patients homozygous for the C332C allele showed a significantly increased prevalence of diabetic neuropathy (p=0.03; OR=1.49 [95%-CI: 1.04; 2.11]), while no association with diabetic nephropathy or retinopathy was found. However, the significance of this association was lost after correction for multiple testing. CONCLUSIONS: Our data suggest a possible association of C332C-genotype of the glyoxalase 1 gene with diabetic neuropathy in type 2 diabetes, supporting the hypothesis that methylglyoxal might be an important mediator of diabetic neuropathy in type 2 diabetes.


Assuntos
Complicações do Diabetes/genética , Diabetes Mellitus Tipo 2/genética , Genótipo , Lactoilglutationa Liase/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos Transversais , Complicações do Diabetes/enzimologia , Diabetes Mellitus Tipo 1/enzimologia , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/enzimologia , Feminino , Humanos , Lactoilglutationa Liase/metabolismo , Masculino , Pessoa de Meia-Idade
3.
Ophthalmologe ; 110(2): 154-9, 2013 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-22903147

RESUMO

Ocular fundus photography allows detection of both ocular and systemic diseases. This study investigated the efficacy of a broad screening in a department of internal medicine using nonmydriatic digital fundus photography. For 8 weeks a medical technician was trained in using the camera as well as interpreting the photographs. The medical technician and an ophthalmologist evaluated the fundus photographs separately by using a self-developed questionnaire. The fundus camera was user-friendly and after several weeks of adjustment and practical application the medical technician was able to detect the majority of pathological fundus photographs. Out of 218 patients examined 148 (68%) were identified as pathological by the medical technician and 163 (75%) by the ophthalmologist (p = 0.0003). The medical technician missed 15 (7%) patients. Furthermore the diagnoses made by the medical technician were faulty. In summary an ophthalmological screening by a medical technician is feasible but the diagnosis still remains the responsibility of ophthalmologists. Such a compromise could facilitate the examination of a large number of patients and disclose previously unrecognized diseases.


Assuntos
Angiofluoresceinografia/estatística & dados numéricos , Assistentes de Oftalmologia/estatística & dados numéricos , Médicos/estatística & dados numéricos , Competência Profissional , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Feminino , Alemanha/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Prevalência , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
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