Objectives: Artifactually altered glycated hemoglobin (HbA(1c)) concentrations are frequently linked to hemoglobin (Hb) variants. Their expression and detection require in-depth analysis.Methods:... Show moreObjectives: Artifactually altered glycated hemoglobin (HbA(1c)) concentrations are frequently linked to hemoglobin (Hb) variants. Their expression and detection require in-depth analysis.Methods: Cation exchange high performance liquid chromatography (HPLC) (Bio-Rad Variant (TM) II; Trinity Biotech Premier Hb9210 Resolution), capillary electrophoresis (CE) (Sebia Capillarys 2 Flex Piercing) and mass spectrometry (MS) (Waters) were used for variant detection; Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) were used for DNA analysis; HbA(1c) was measured with cation exchange HPLC (Bio-Rad Variant (TM) II; Arkray Adams HA-8180V; Tosoh HLC-723 G7), CE (Sebia Capillarys 2 Flex Piercing), boronate affinity HPLC (Trinity Biotech Hb9210 Premier), immunoassay (Cobas c501 Tina-quant HbA(1c) Gen. 3; Nihon Kohden CHM-4100 Celltac chemi HbA(1c) HA-411V) and enzymatic assay (Abbott Architect c 8000 HbA(1c)).Results: Hb Yamagata [beta 132(H10)Lys -> Asn; (HBB: c.399A>T)] was identified in the proband by MS after the observation of an abnormal peak in HPLC and CE. A mosaic expression of this variant was detected by NGS (mutant: 8%; wild type: 92%), after negative results in Sanger sequencing. Hb Yamagata interfered with HbA(1c) measurements by cation exchange HPLC and CE whereas immuno and enzymatic assay values showed good agreement with boronate affinity HPLC measurement.Conclusions: A mosaicism of Hb Yamagata was found in a patient with altered HbA(1c) values. This rare gene variant was detected only by advanced technologies as MS and NGS. The variant interfered with common HbA(1c) determination methods. Show less
In this thesis we have discussed several parameters that affect the electrochemical conversion of enviromentaly harmful molecules such as nitrates and carbon dioxide to more valuable and less... Show moreIn this thesis we have discussed several parameters that affect the electrochemical conversion of enviromentaly harmful molecules such as nitrates and carbon dioxide to more valuable and less deleterious compounds, in order to cast light onto the mechanism of the reaction to achieve an efficient and selective system.The thesis is divided in two main parts, the reduction of nitrates(chapter 2) and the mechanistic study of CO2 conversion to different products such as ethanol(chapter 3), ethylene(chapters 4 and 5) and propylene carbonate (chapter 6). Show less
Oonk, S.; Spitali, P.; Hiller, M.; Switzar, L.; Dalebout, H.; Calissano, M.; ... ; Burgt, Y.E.M. van der 2016
Cannabinoids are a group of terpenophenolic compounds and are naturally found in the cannabis plant (Cannabis sativa L). _9-Tetrahydrocannabinol (_9-THC) is the psychoactive cannabinoid. The high... Show moreCannabinoids are a group of terpenophenolic compounds and are naturally found in the cannabis plant (Cannabis sativa L). _9-Tetrahydrocannabinol (_9-THC) is the psychoactive cannabinoid. The high lipophilicity of _9-THC is a hindering factor in the further development of this compound into a large scale pharmaceutical product. In an effort to generate highly polar derivatives of _9-THC, we screened 206 alkane degrading bacterial strains. In total, eight derivatives were produced on milligram. All of these biotransformation products harbored modified alkyl chains, with hydroxy, carboxy and ester functionalities. We also investigated the potential of cell suspension culture of Catharanthus Roseus to transform _9-THC. Unlike bacterial strains, Catharanthus Roseus cells transformed _9-THC to its glycosylated and additionally hydroxylated derivatives. The behavioral effects of __9-THC are mediated by the centra l CB1 receptor in rats. CB1 receptors show high degree of sequence conservation in vertebrates. We used zebrafish embryos as a model to study the behavioral effects of cannabinoids. We conclude that cannabinoids have behavioural effects in zebrafish that are comparable to some of those reported in the literature for mammals. In particular, the acute exposure response resembles behavioural effects reported for adult. This suggests that some similarity in cannabinoid response pathways between zebrafish and mammals exists. We also performed the metabolomic profiling of zebrafish embryos treated with the concentrations of CB1 agonist and antagonist used in behavioural assays. The results of behavioural assays were successfully correlated with the metabolomic data of zebrafish embryos. Show less
![Hemoglobin Yamagata [beta 132(H10)Lys -> Asn; (HBB: c.399A > T)]: a mosaic to be put together](/sites/all/modules/custom/islandora_solr_search/images/defaultimg.png?solr_nav%5Bid%5D=012bb81d60f97764f654&solr_nav%5Bpage%5D=0&solr_nav%5Boffset%5D=0)
