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1.
Mol Genet Metab ; 103(1): 96-7, 2011 May.
Artigo em Inglês | MEDLINE | ID: mdl-21333574

RESUMO

Surgical procedures in patients with metabolic disorders require specific anesthetic measures based on the nature of the involved metabolic disorder. Illustrated by the history of two patients, the need for a specific perioperative regimen in patients with very long chain acyl-CoA dehydrogenase deficiency (VLCADD) is discussed. One patient deteriorated, the other patient did well without any specific measurements. Although perioperative metabolic decompensation can currently not be predicted, it is a severe complication which should be avoided. We therefore advise to consider certain perioperative precautions in all VLCADD patients: 1) age and weight adapted glucose infusion, 2) stress avoiding premedication, 3) avoidance of volatile anesthetics, 4) avoidance of long chain fatty acid containing anesthetics and 5) perioperative glucose and CK monitoring.


Assuntos
Erros Inatos do Metabolismo Lipídico , Doenças Mitocondriais , Doenças Musculares , Período Perioperatório , Acil-CoA Desidrogenase de Cadeia Longa/deficiência , Acil-CoA Desidrogenase de Cadeia Longa/genética , Síndrome Congênita de Insuficiência da Medula Óssea , Feminino , Fibroblastos/enzimologia , Homozigoto , Humanos , Lactente , Recém-Nascido , Linfócitos/enzimologia , Masculino , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/terapia , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Mitocondriais/terapia , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/terapia , Mutação/genética , Resultado do Tratamento
2.
Theor Appl Genet ; 92(8): 1085-90, 1996 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24166640

RESUMO

On the basis of gene frequency data of three flavone glycosylating genes, populations of the agricultural weed Silene latifolia (Caryophyllaceae) in Europe can be divided into two chemical races: an eastern and a western race. Morphological data also show a clear east-west division. When the two datasets are combined at least nine different geographical races can be distinguished using cluster analysis. Because these observations are hard to explain by selection, it has been proposed that these different races probably originated as a consequence of migration during the spread of agriculture over Europe in the past. To discriminate between selection and genetic drift many more selectively neutral easy-to-score characters are needed. In order to test whether random amplified polymorphic DNAs (RAPDs) might be suitable for this purpose, we performed a small-scale RAPD analysis on 16 geographical different populations. Using Jaccard's coefficient of similarity, we calculated genetic distances by pair-wise comparisons of both unique and shared amplification products, and a dendrogram was subsequently constructed using an unweighted pair-group method with arithmetical averages (UPGMA). On the basis of the dendrogram two clusters were discerned that clearly coincide with the aforementioned east-west division in populations. As there has been little or no artificial selection on this weed, its migration routes may be a good reflection of the different geographical routes agriculture has taken. We propose that a phylogenetic analysis of RAPD data of many more populations may provide additional information on the spread of agriculture over Europe.

3.
FEBS Lett ; 330(1): 36-40, 1993 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-8370455

RESUMO

An UDP-glucose:flavonoid, 7-O-glucosyltransferase, from Silene latifolia was isolated from petals and purified 450-fold using a combination of gel-filtration, affinity chromatography and anion-exchange chromatography. Affinity chromatography on a phenyl-Sepharose CL-4B column in combination with elution with the substrate, isovitexin (6-C-glucosylapigenin), was an especially effective purification step. A purification factor between 10 and 20 could be reached using this column. A possible mechanism for the specific interaction of the enzyme with the phenyl-Sepharose will be discussed. This method of purification may also be applicable to other enzymes which use aromatic compounds as substrates. On a SDS-PAGE gel a band of 54 kDa, which co-purified with enzyme activity, could be detected in the purest fraction.


Assuntos
Glucosiltransferases/isolamento & purificação , Plantas/enzimologia , Sefarose/análogos & derivados , Cromatografia de Afinidade , Cromatografia em Gel , Cromatografia por Troca Iônica , Eletroforese em Gel de Poliacrilamida , Glucosiltransferases/metabolismo , Sefarose/metabolismo
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