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Objectives: In this paper we describe the outline and results of a 7-year screening programme for thalassaemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency in 13- to 14-year-old students from the Sardinian population. Method: This programme had several steps: formal education on thalassaemia, request of informed consent by parents, blood testing and genetic counselling. Results:Out of 63,285 subjects tested, 6,521 (10.3%) were heterozygotes for β-thalassaemia, 16,175 (25.6%) for α-thalassaemia and 101 were carriers of a haemoglobin variant. One thousand four hundred and twenty (16.4%) males were hemizygotes for G6PD deficiency and 1,893 (20.6%) females were heterozygotes. Conclusion: The uptake of the programme was remarkably high and homogeneous across the island, indicating and confirming a great interest of the Sardinian population in any initiative directed at the prevention of homozygous β-thalassaemia. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

The scientific analysis of ceramics often has the aim of identifying groups of similar artefacts. Much published work focuses on analysis of data derived from geochemical or mineralogical techniques. The former is more likely to be subjected to quantitative statistical analysis. This paper examines some approaches to the statistical analysis of data arising from both kinds of techniques, including ‘mixed-mode’ methods where both types of data are incorporated into analysis. The approaches are illustrated using data derived from 88 Late Bronze Age transport jars from Kommos, Crete. Results suggest that the mixed-mode approach can provide additional insight into the data. [ABSTRACT FROM AUTHOR]

The purpose of our work was to study the evolution of the uterine scar following laparoscopic myomectomy, as imaged by ultrasonography and Doppler velocimetry of the uterine arteries. We prospectively studied 30 patients. In the first phase, 15 patients were submitted to two-dimensional (2D) endovaginal ultrasound on day -1, 1, 7, 30 and 60 (surgery = day 0). In the second phase an additional 15 patients were studied by both 2D ultrasound and by Doppler velocimetry. The resistance index (RI) was calculated from the flow velocity waveform of the uterine arteries, at the origin of their ascending branch. Only one ultrasonic pattern was found, which was a dense echogenic area having an ill-defined, heterogeneous texture. In one case a small anechoic area (1 cm) was detected in the scar, possibly due to a haematoma. The evolution of uterine healing showed a progressive reduction in the size of the scar. On day 1 its mean diameter was 37.04% less than the myoma diameter and on day 30 71.7% less. The difference was significant at P < 0.001. A further significant (P < 0.001) reduction was found at day 60 in the 15 patients studied in phase I. On both day 1 and day 30 following surgery, there was no correlation between the sizes of the myoma and the scar. There was a statistically significant increase (P < 0.01) in the RI value of the ipsilateral uterine artery from 0.64 on day -1 to 0.79 on day 1. On day 30, 12/15 (80%) cases had RI values ranging between 0.80 and 0.98, while in three cases there was absence of end diastolic flow. The RI values of the contralateral uterine artery were high (0.90) before surgery and did not change afterwards. There was no correlation between the size of the myoma and the increase in the uterine artery RI value following surgery. Considering the velocimetric findings, 30 days are a reference point for assessing the healing process. Ultrasound imaging and Doppler velocimetry can be used for studying the evolution of the uterine scar following myomectomy. [ABSTRACT FROM AUTHOR]

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, was studied in 19 patients with Xp21 disorders and in 25 individuals with non-Xp21 muscular dystrophy. Antibodies raised to seven different regions spanning most of the protein were used for immunocytochemistry. In all patients specific dystrophin staining anomalies were detected and correlated with clinical severity and also gene deletion. In patients with Becker muscular dystrophy (BMD) the anomalies detected ranged from inter- and intra-fibre variation in labelling intensity with the same antibody or several antibodies to general reduction in staining and discontinuous staining. In vitro evidence of abnormal dystrophin breakdown was observed reanalysing the muscle of patients, with BMD and not that of non-Xp21 dystrophies, after it has been stored for several months. A number of patients with DMD showed some staining but this did not represent a diagnostic problem. Based on the data presented, it was concluded that immunocytochemistry is a powerful technique in the prognostic diagnosis of Xp21 muscular dystrophies. [ABSTRACT FROM AUTHOR]

We have identified a novel T-insertion polymorphism located in the second intron of the dystrophin gene. This polymorphism should prove useful in linkage studies in Duchenne and Becker muscular dystrophy families in addition to the previously described markers. [ABSTRACT FROM AUTHOR]