The evolution of pediatric tele-echocardiography: 15-year experience of over 10,000 transmissions.

BACKGROUND: Telemedicine transmission of echocardiograms, either in real-time or using store-and-forward technology, is used to evaluate infants with suspected heart disease. The impact of Internet protocol (IP) technology on telecardiology utilization is unknown. This study evaluated the impact of IP expansion on telecardiology utilization and mode of scanning. MATERIALS AND METHODS: The telemedicine database from 1998 to 2012 at our institution was reviewed. Tele-echocardiography transmissions between 1998 to 2012 were identified. IP technology was introduced in 2006. The database was reviewed to compare telecardiology utilization and mode of scanning of transmission (live, store-and-forward, or both). As a secondary aim, indications for telemedicine echocardiograms, outcomes of studies, effectiveness, and efficiency were recorded. RESULTS: Between 1998 and 2012, 11,890 telemedicine transmissions were performed. After IP expansion, telecardiology utilization increased significantly with no adverse effect on efficiency or diagnostic accuracy. IP expansion paralleled a change from live transmissions to store-and-forward transmissions. Abnormalities were detected in over 40% of studies. The average from time of request to completion of teleconsultation was under 30 min. Over 90% of echocardiograms were performed during the videoconference in the first 2 years. This fell to under 60% during the 2 most recent years of the program without impact on accuracy. CONCLUSIONS: Use of IP technology at a single center corresponded to a dramatic increase in volume of telemedicine echocardiograms, with no significant differences in efficiency.

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.

There is a great deal of interest in a fine-scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely to have a significant part in the next generation of studies designed to search for rare variants. A powerful way of detecting such structure is to control and document carefully the provenance of the samples involved. In this study, we describe the collection of a cohort of rural UK samples (The People of the British Isles), aimed at providing a well-characterised UK-control population that can be used as a resource by the research community, as well as providing a fine-scale genetic information on the British population. So far, some 4000 samples have been collected, the majority of which fit the criteria of coming from a rural area and having all four grandparents from approximately the same area. Analysis of the first 3865 samples that have been geocoded indicates that 75% have a mean distance between grandparental places of birth of 37.3 km, and that about 70% of grandparental places of birth can be classed as rural. Preliminary genotyping of 1057 samples demonstrates the value of these samples for investigating a fine-scale population structure within the UK, and shows how this can be enhanced by the use of surnames.

Population genetic data for 17 Y STR markers from Benghazi (East Libya).

The seventeen Y-STR loci included in the AmpFℓSTR(®) Yfiler™ PCR Amplification kit (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS437, DYS448, DYS458, DYS456, DYS635, and Y-GATA-H4) were used to type a sample population of 238 males from eastern Libya (Benghazi region). Of 238 observed haplotypes, 214 were unique (90%) and 24 (10%) were found more than once. The 17 loci gave a discriminating power of 0.999. DYS458 showed the highest diversity as a single-locus marker (0.73). Allelic frequencies and gene diversities for each Y-STR locus were determined. The high haplotype diversity and discrimination capacity (0.996) demonstrate the utility of these loci for human identification in forensic applications. Comparative analysis with Y-STR datasets of relevant populations and submission of the haplotypes to the Y-STR Haplotype Reference Database (YHRD) was undertaken.

Frequencies of HFE gene mutations associated with haemochromatosis in the population of Libya living in Benghazi.

THE STUDIES OF THE HFE MUTATIONS: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 200 chromosomes (100 Libyan people live in Benghazi) for the presence of the two HFE mutations by PCR-RFLP analysis by using PCR conditions used to amplify both Autosomal and Y chromosomal STRs. We have found that the allele frequencies are, respectively, 17% for the H63D and 0% for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y.