Showing papers by "The Cyprus Institute published in 2000"
TL;DR: The data that are presented will facilitate the improvement of medical services such as carrier screening, genetic counseling, and prenatal diagnosis and a detailed knowledge of the molecular pathology of β-thalassemia will strongly improve the prenatal diagnosis services in Syria.
Abstract: This study concerns the determination of beta-thalassemia alleles and other hemoglobin variants in 82 patients from Syria. We have characterized 146 chromosomes and found 17 different beta-thalassemia mutations, and one beta-globin chain variant that gives rise to the abnormal Hb S. The eight most common beta-thalassemia mutations were the IVS-I-110 (G-->A), IVS-I-1 (G-->A), codon 5 (-CT), -30 (T-->A), codon 39 (C-->T), IVS-I-6 (T-->C), IVS-II-1 (G-->A), and codon 15 (TGG-->TAG). These mutations accounted for almost 75% of the total beta-thalassemia chromosomes. We identified 34 different genotypes with a high level of homozygosity. The various beta-thalassemia mutations were characterized using gene amplification with specific oligonucleotide primers, restriction enzyme analysis, denaturing gradient gel electrophoresis and direct sequencing. By combining these three approaches we were able to detect mutations in almost 90% of the chromosomes studied. Our findings provide a sound foundation on which to base a preventive program for thalassemia and we believe that the data that we present will facilitate the improvement of medical services such as carrier screening, genetic counseling, and prenatal diagnosis. Furthermore a detailed knowledge of the molecular pathology of beta-thalassemia will strongly improve the prenatal diagnosis services in Syria.
44 citations
29 May 2000
TL;DR: In this article, the authors investigated whether bispectral analysis (BS) may be used for analyzing the surface electromyographic signal (SEMG) and the bicoherence index was used for characterizing the Gaussianity of the signal.
Abstract: The objective of this ongoing study is to investigate whether or not bispectral analysis (BS), a particular form of higher order spectra (HOS), may be utilized for analyzing the surface electromyographic signal (SEMG). The bicoherence index was used for characterizing the Gaussianity of the signal. Results indicate that SEMG signal distribution is highly nonGaussian at low and high levels of force whereas the distribution has its maximum Gaussianity at the mid level of maximum voluntary contraction (MVC), i.e. at 50%. A measure of the linearity of the signal, based on deciding whether or not the estimated bicoherence is constant, follows the reverse pattern with the measure of Gaussianity. The power spectrum's (PS) median frequency, decreases from 105 to 93 Hz with increase of force, whereas the number of turns and the number of zero crosses increase with force. Further work is currently in progress in order to evaluate the usefulness of HOS in normal subjects and subjects suffering from neuromuscular disorders.
39 citations
TL;DR: In this article, the wear behavior of a zinc and three zinc-iron electrodeposited coatings, with different iron content, was studied using a pin-on-disc wear apparatus, and the most important wear mechanism of the above coatings was noted to be extensive plastic deformation and shearing of the coating, due to the ploughing action of much harder steel spheres.
Abstract: Using a pin-on-disc wear apparatus, the wear behaviour of a zinc and three zinc–iron electrodeposited coatings, with different iron content, was studied. The friction coefficient of the coatings against hardened steel spheres was observed to decrease with increasing iron content in the coatings. The most important wear mechanism of the above coatings was noted to be extensive plastic deformation and shearing of the coating, due to the ploughing action of the much harder steel spheres. The wear volume of the zinc coating was much higher than the wear volumes of the zinc–iron coatings, which had higher hardness values and were thus more resistant to plastic deformation.
27 citations
TL;DR: A new 3-thal mutation caused by a single base deletion in exon 2 of the P-globin gene is reported, which is associated with a distinct phenotype in an Iranian male displaying a typical hematological profile of P-thal trait.
Abstract: (3-Thalassemia (thal) is a common hereditary anemia caused by mutations in the 0globin gene encoding the P-globin chain of Hb A (a2(32). More than 190 different mutations involving single base substitutions, small deletions and insertions within the P-globin gene or its immediate flanking sequences, have been characterized to date (1). In contrast to most recessive disorders. the carrier state for P-thal is associated with a distinct phenotype; mild anemia, erythrocyte hypochromia and microcytosis, and elevated levels ofHb A, (a262). This makes i t possible to use routine hematological tests [complete blood count, hemoglobin (Hb) electrophoresis) to identify the carriers. Molecular testing can then be conducted to identify the mutation. Here we report a new (3-thal mutation caused by a single base deletion in exon 2 of the P-globin gene. The patient under study is an Iranian male displaying a typical hematological profile of P-thal trait with a Hb level of 12.1 g/dL, MCV 63.6 fL, MCH 19.9 pg, Hb A2 3.8%, and Hb F