Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ...ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confirmed by measurement of HEXA activity in plasma, peripheral leucocytes and fibroblasts. Sequencing the HEXA gene resulted in the identification of two previously described mutations: the nonsense mutation c.78G>A (p.Trp26X) and the silent mutation c.1305C>T (p.=). The silent mutation was reported once before in a juvenile TSD patient of West Indian origin with an unusually mild phenotype. The presence of this mutation in another juvenile TSD patient provides further evidence that it is a disease-causing mutation. Successful preimplantation genetic diagnosis (PGD) and prenatal follow-up were provided to the couple.
•First patient with Tay-Sachs disease (TSD) in the Cypriot population•Silent mutation is a disease causing mutation.•Successful preimplantation genetic diagnosis
We developed a method for the detection of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers. The method is based on the quantitative analysis of the products of standard ...multiplex polymerase chain reaction (PCR) from 18 different exons of the dystrophin gene, and is designated "QM-PCR." We detected deletions of one or more exons by standard multiplex PCR in DMD/BMD patients in 14 of 18 families examined (77.7%). The same deletions were readily demonstrated by QM-PCR in nine of 14 mothers (64.3%) and in another six of 22 possible carriers in these families. In five families where deletions were detectable in DMD/BMD patients, the mothers did not exhibit any deletions in their peripheral blood (35.7%). We obtained evidence for germinal mosaicism in at least two of these families and confirmed carrier identification by haplotype analysis using CA repeat polymorphisms at the 5' and 3' ends of the dystrophin gene. Furthermore, analysis of 17 coded DNA samples from normal females and obligatory carriers by QM-PCR showed that this technique could directly identify carriers of deletions in any of 18 different exons of the dystrophin gene. Its application in combination with existing techniques is expected to significantly improve the accuracy of carrier diagnosis in many families, and it may also be applicable to families in which pedigree and polymorphism information is insufficient for carrier diagnosis.
The State-Trait Anxiety Inventory form Y is a brief self-rating scale for the assessment of state and trait anxiety. The aim of the current preliminary study was to assess the psychometric properties ...of its Greek translation.
121 healthy volunteers 27.22 +/- 10.61 years old, and 22 depressed patients 29.48 +/- 9.28 years old entered the study. In 20 of them the instrument was re-applied 1-2 days later. Translation and Back Translation was made. The clinical diagnosis was reached with the SCAN v.2.0 and the IPDE. The Symptoms Rating Scale for Depression and Anxiety (SRSDA) and the EPQ were applied for cross-validation purposes. The Statistical Analysis included the Pearson Correlation Coefficient and the calculation of Cronbach's alpha.
The State score for healthy subjects was 34.30 +/- 10.79 and the Trait score was 36.07 +/- 10.47. The respected scores for the depressed patients were 56.22 +/- 8.86 and 53.83 +/- 10.87. Both State and Trait scores followed the normal distribution in control subjects. Cronbach's alpha was 0.93 for the State and 0.92 for the Trait subscale. The Pearson Correlation Coefficient between State and Trait subscales was 0.79. Both subscales correlated fairly with the anxiety subscale of the SRSDA. Test-retest reliability was excellent, with Pearson coefficient being between 0.75 and 0.98 for individual items and equal to 0.96 for State and 0.98 for Trait.
The current study provided preliminary evidence concerning the reliability and the validity of the Greek translation of the STAI-form Y. Its properties are generally similar to those reported in the international literature, but further research is necessary.
The cytotoxin colicin E3 targets the 30S subunit of bacterial ribosomes and specifically cleaves 16S rRNA at the decoding centre, thereby inhibiting translation. Although the cleavage site is well ...known, it is not clear which step of translation is inhibited. We studied the effects of colicin E3 cleavage on ribosome functions by analysing individual steps of protein synthesis. We find that the cleavage affects predominantly the elongation step. The inhibitory effect of colicin E3 cleavage originates from the accumulation of sequential impaired decoding events, each of which results in low occupancy of the A site and, consequently, decreasing yield of elongating peptide. The accumulation leads to an almost complete halt of translation after reading of a few codons. The cleavage of 16S rRNA does not impair monitoring of codon-anticodon complexes or GTPase activation during elongation-factor Tu-dependent binding of aminoacyl-tRNA, but decreases the stability of the codon-recognition complex and slows down aminoacyl-tRNA accommodation in the A site. The tRNA-mRNA translocation is faster on colicin E3-cleaved than on intact ribosomes and is less sensitive to inhibition by the antibiotic viomycin.
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