RESUMO
Since 1975, more than 19,000 persons have been tested for hemoglobin abnormalities in Liège. Nine unrelated carriers of Hb D-Los Angeles were discovered. They were of Belgian origin. The family of the ninth index case was studied thoroughly. In six generations, 372 descendants of a couple married in 1818 were recorded. Of the 93 tested, 31 were carriers of the Hb D variant. The complete pedigree indicates that Hb D-Los Angeles was already present in Liege province in the 18th century. A connection with India is unlikely.
Assuntos
Hemoglobinas Anormais/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Bélgica , Humanos , Focalização Isoelétrica , Pessoa de Meia-Idade , Mapeamento de PeptídeosRESUMO
The treatment comprising a special diet (without glycine, serine, and with a reduced amount of threonine), strychnine nitrate and ursodesoxycholic acid (UDCA) led to normoglycinaemia in this form of severe non-ketotic glycine encephalopathy. Diet and treatment were well tolerated but without significant effect upon psychomotor development. This treatment should be more effective if administered before irreversible brain damage occurs, particularly in moderate and chronic forms of NKH.
Assuntos
Acidose , Erros Inatos do Metabolismo dos Aminoácidos/terapia , Ácido Desoxicólico/análogos & derivados , Glicina/sangue , Cetose , Estricnina/uso terapêutico , Ácido Ursodesoxicólico/uso terapêutico , Erros Inatos do Metabolismo dos Aminoácidos/genética , Pré-Escolar , Terapia Combinada , Feminino , Alimentos Formulados , HumanosAssuntos
Coleta de Amostras Sanguíneas , Deficiência de Glucosefosfato Desidrogenase/sangue , Hemoglobinas/análise , Heparina , Eletroforese em Acetato de Celulose/métodos , Eritrócitos/enzimologia , Feminino , Glucosefosfato Desidrogenase/sangue , Humanos , Iodoacetatos , Ácido Iodoacético , Talassemia/diagnósticoRESUMO
Hemoglobin A1c (HbA1c) is a minor component of human hemoglobin resulting from a non enzymatic linkage of glucose with the NH2-terminal amino acid of the beta chain of hemoglobin. Under normal conditions, HbA1c represent about 5% of total hemoglobin. The HbA1c blood concentration increases in direct proportion of the duration and degree of hyperglycemia. Available procedures for measuring HbA1c include column chromatography, high pressure liquid chromatography, a colorimetric procedure based on the formation of 5-hydroxymethylfurfural and isoelectrofocusing. In a group of 138 patients, we have confirmed that HbA1c provides a useful means of evaluating the degree of diabetic control: the highest values have been recorded in cases of poor control, the lowest in cases of excellent control. In the latter case, the HbA1c values recorded were not statistically different from those obtained in a control group of 92 non-diabetic subjects. The interest of evaluating this parameter in diabetes is briefly analyzed.
Assuntos
Diabetes Mellitus/sangue , Hemoglobinas/metabolismo , Adulto , Cromatografia Líquida de Alta Pressão , Colorimetria , Diabetes Mellitus/terapia , Feminino , Glicosídeos/sangue , Humanos , Focalização Isoelétrica , Masculino , Pessoa de Meia-IdadeRESUMO
A new Hb A1c routine dosage method is proposed, using thin-layer isoelectrofocusing. The mean level in normal adults is 4.66% (sigma = 1.05). In diabetic (treated) patients, the distribution of Hb A1c levels is a non-Gaussian one, with extreme values of 3 to 13% and a maximum frequency peak at 5.5%.
Assuntos
Hemoglobina A/análise , Hemoglobinas/análise , Adulto , Diabetes Mellitus/sangue , Eletroforese em Gel de Poliacrilamida , Humanos , Focalização Isoelétrica , MétodosAssuntos
Hemoglobinopatias/diagnóstico , Hemoglobinas Anormais/análise , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Hemoglobinopatias/genética , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , GravidezAssuntos
Gangliosidoses/diagnóstico , Feminino , Gangliosidoses/patologia , Humanos , Lactente , LinhagemRESUMO
An improved technique is proposed for detecting G6PD deficiency on dried blood. A simple and rapid ascending chromatography of NADPH makes it possible to differentiate the false positives, too frequently found with Beutler's spot test (1968).
