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The increasing di usion of data acquisition systems paves the way to traceability based process management and de nition. In the clinical context, IHE formalizes the reference guidelines, periodically enhanced to re ect processes evolution. In this work we describe how we have modeled the phlebotomy process following the IHE references and best-practices to obtain a fully traceable work ow. The work has resulted in two new transactions for the IHE LBL pro le, describing samples containers production and samples collection. The complete work ow has been im- plemented and successfully tested in real clinical environ- ments. The traceability data acquired have then been stud- ied using Process Mining techniques to compare the pro- duction model with idealized work ow and guide further developments.

Background The use of point-of-care ultrasonography (POC US) in paediatrics is increasing. This study investigated the diagnostic accuracy of POC US in children accessing the emergency department (ED) when performed by paediatricians under the remote guidance of radiologists (TELE POC). Methods Children aged 0 to 18 years accessing the ED of a third level research hospital with eight possible clinical scenarios and without emergency/severity signs at the triage underwent three subsequent US tests: by a paediatrician guided remotely by a radiologist (TELE POC); by the same radiologist (UNBLIND RAD); by an independent blinded radiologist (BLIND RAD). Tele-radiology was implemented using low cost “commercial off-the-shelf” (COTS) equipment and open-source software. Data were prospectively collected on predefined templates. Results Fifty-two children were enrolled, for a total of 170 ultrasound findings. Sensitivity, specificity, positive and negative predictive values of TELE POC were: 93.8, 99.7, 96.8, 99.4 when compared to UNBLIND RAD and 88.2, 99.7, 96.8, 98.7 when compared to BLIND RAD. The inter-observers agreement between the paediatricians and either the unblind or blind radiologist was excellent (k = 0.93). The mean duration of TELE POC was 6.3 minutes (95% CI 4.1 to 8.5). Technical difficulties occurred in two (3.8%) cases. Quality of the transmission was rated as fair, good, very good and excellent in 7.7%, 15.4%, 42.3% and 34.6% of cases respectively, while in no case was it rated as poor. Conclusions POC US performed by paediatricians in ED guided via tele-radiology by an expert radiologist (TELE POC) produced reliable and timely diagnoses. Findings of this study, especially for the rarer conditions under evaluation, need further confirmation. Future research should investigate the overall benefits and the cost savings of using tele-ultrasound to perform US “at children’s bedsides”, under remote guidance of expert radiologists.

Objective: Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find variants conferring susceptibility to this disease. Methods: Standard association tests were employed, followed by newer multilocus association methods (genotype patterns). Results: Individually, no variant produced a significant result. However, the best two variants (rs1360382 on chromosome 9 and rs1303 on chromosome 14) showed significantly different genotype pattern distributions between patients and control individuals. The risk genotype pattern AA-TT is highly predictive of schizophrenia, with estimated sensitivity and specificity of 1 and 0.96, respectively. Conclusions: These findings support the hypothesis that schizophrenia is partly due to multiple genetic variants, each with a relatively small effect.

We report a sampling strategy based on Mendelian Breeding Units (MBUs), representing an interbreeding group of individuals sharing a common gene pool. The identification of MBUs is crucial for case-control experimental design in association studies. The aim of this work was to evaluate the possible existence of bias in terms of genetic variability and haplogroup frequencies in the MBU sample, due to severe sample selection. In order to reach this goal, the MBU sampling strategy was compared to a standard selection of individuals according to their surname and place of birth. We analysed mitochondrial DNA variation (first hypervariable segment and coding region) in unrelated healthy subjects from two different areas of Sardinia: the area around the town of Cabras and the western Campidano area. No statistically significant differences were observed when the two sampling methods were compared, indicating that the stringent sample selection needed to establish a MBU does not alter original genetic variability and haplogroup distribution. Therefore, the MBU sampling strategy can be considered a useful tool in association studies of complex traits.

To demonstrate a simple low-cost system for tele-echocardiology, focused on paediatric cardiology applications. The system was realized using open-source software and COTS technologies. It is based on the transmission of two simultaneous video streams, obtained by direct digitization of the output of an ultrasound machine and by a netcam showing the examination that is taking place. These streams are then embedded into a web page so they are accessible, together with basic video controls, via a standard web browser. The system can also record video streams on a server for further use. The system was tested on a small group of neonatal cases with suspected cardiopathies for a preliminary assessment of its features and diagnostic capabilities. Both the clinical and technological results were encouraging and are leading the way for further experimentation. The presented system can transfer clinical images and videos in an efficient way and in real time. It can be used in the same hospital to support internal consultancy requests, in remote areas using Internet connections and for didactic purposes using low cost COTS appliances and simple interfaces for end users. The solution proposed can be extended to control different medical appliances in those remote hospitals.