Search results for "perch"
showing 10 items of 1084 documents
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
2001
Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one f…
Rapid screening of the LDL receptor point mutation FH-Genoa/Palermo
1999
The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb™-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sou…
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis
2001
Mutations underlying FH in Spain are largely unknown because only a few and limited surveys have been carried out on Spanish FH patients up to now. To gain information on this issue, we have analysed a group of 113 unrelated Spanish FH patients from an eastern area of Spain (Valencian Community). We have screened the LDLR gene by Southern blot and PCR-SSCP analysis to detect large rearrangements and small mutations, respectively. In addition, we have screened the Apo B gene for mutations known to cause FDB by PCR-SSCP analysis. We have identified a total of 47 different mutations in the LDLR gene (5 large rearrangements, and 42 small mutations, which were characterized by DNA sequencing), 1…
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.
2006
Patients homozygous or Compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels. more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygotes for mutations in either these genes or for missense mutations in PCSK9 gene. It is not known whether combined mutations in LDLR and PKCS9 are associated with such a severe phenotype. We sequenced Apo B and PCSK9 genes in two patients with the clinical diagnosis of homozygous FH who were heterozygous for LDLR gene mutations. Proband Z.P. (LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LD…
Lack of phenotypic additive effect of familial defective apolipoprotein B3531 in familial hypercholesterolaemia.
2020
Familial defective apolipoprotein (apo) B (FDB) and familial hypercholesterolaemia (FH) are the two common genetic conditions that cause hypercholesterolaemia. R3531C mutation of the APOB gene is a rare cause of FDB. Individuals with both FDB and FH are rare. A 51-year-old man with hypercholesterolaemia (11.4 mmol/L) and his family were studied. Low-density lipoprotein (LDL) receptor (LDLR) and APOB genes were analysed by direct sequencing. LDL of four subjects were studied in a fibroblast LDL receptor-binding displacement assay. We found a mutation of the LDLR gene (p.Y398X) in the proband and in four other family members: the p.R3531C APOB gene mutation was also found in the proband, his …
Intermittent and passivity based control strategies for a hyperchaotic system
2013
In this paper a four-dimensional hyperchaotic system with only one equilibrium is consid- ered and it is shown how the control and the synchronization of this system can be realized via two different control techniques. Firstly, we propose a periodically intermittent con- troller to stabilize the system states to the equilibrium and to achieve the projective syn- chronization of the system both in its periodic and hyperchaotic regime. Then, based on the stability properties of a passive system, we design a linear passive controller, which only requires the knowledge of the system output, to drive the system trajectories asymptoti- cally to the origin. Using the same passivity-based method, …
Bioaccumulation of dioxins, coplanar PCBs, PCDEs, HxCNs, R-PCNs, R-PCPHs and R-PCBBs in fish from a pulp-mill recipient watercourse
1993
Abstract Pike, perch and lake bream from the river Kymijoki were analyzed by gas chromatography/mass spectrometry (GC/MS) for toxic polychlorinated dibenzo-p-dioxins (PCDDs) and dibenzofurans (PCDFs), hexachlorinated naphthalenes (HxCNs), non-ortho substituted polychlorinated biphenyls (coplanar PCBs) and alkylchloroaromatics of pulp mill origin. In most fish, the only congener of PCDD/PCDFs found was 2,3,7,8-TeCDF (
Iodine determination in food samples using inductively coupled plasma isotope dilution mass spectrometry.
1998
Two different sample treatment methods are used in connection with inductively coupled plasma isotope dilution mass spectrometry for accurate and precise determinations of iodine traces in food samples. 129I-enriched iodate is applied as a spike compound for the isotope dilution step. Extraction of iodine by tetramethylammonium hydroxide (TMAH) solution at high temperatures in a closed vessel is one of the sample treatment methods. The other one is a complete decomposition of the sample with a mixture of perchloric acid and nitric acid using microwave assistance. By analyzing different certified reference materials (three milk powders with different iodine levels, BCR CRM 63, 150, and 151; …
Mechanism of four-electron reduction of dioxygen to water by ferrocene derivatives in the presence of perchloric acid in benzonitrile, catalyzed by c…
2004
The selective two-electron reduction of dioxygen occurs in the case of a monocobalt porphyrin [Co(OEP)], whereas the selective four-electron reduction of dioxygen occurs in the case of a cofacial dicobalt porphyrin [Co(2)(DPX)]. The other cofacial dicobalt porphyrins [Co(2)(DPA), Co(2)(DPB), and Co(2)(DPD)] also catalyze the two-electron reduction of dioxygen, but the four-electron reduction is not as efficient as in the case of Co(2)(DPX). The micro-superoxo species of cofacial dicobalt porphyrins were produced by the reactions of cofacial dicobalt(II) porphyrins with dioxygen in the presence of a bulky base and the subsequent one-electron oxidation of the resulting micro-peroxo species by…
A study of the mechanism of the oxidative cyclization of benzaldehyde semicarbazones induced by cupric perchlorate in acetonitrile
1995
Treatment of benzaldehyde semicarbazones 1a-i with cupric perchlorate in acetonitrile at 40 provided selectively the corresponding 1,2,4-triazolin-5-ones 2a-i. The relative rate constants for 2a-i formation were determined by the competitive method. The results obtained showed that electron-donating substituents (methyl and methoxy) increase the reaction rate, while the reverse was found for electron-withdrawing substituents (chloro and nitro group). The reactivity data are discussed on the grounds of two possible mechanisms.