No abstract

The great benefits that Electronic Health Records are able to provide in terms of improvement of the quality of care and reduction of costs have led many international organizations to implement enabling systems. However, the systems designed and realized are very often not able to interoperate each other, due to several reasons, varying from the existence of different local needs to the use of diverse health informatics standards. The lack of interoperability among these systems can result in decreased levels of quality of patient care and waste of financial resources. In Italy, the autonomy about healthcare delivered by the Italian Constitution to each region caused the spread of heterogeneous regional EHR systems, thus not able to interoperate each other. This paper presents the result of an effort made within a convention between the National Research Council of Italy and the Agency for Digital Italy, for the specification of the Italian architecture for the interoperability of regional EHR systems. Such an architecture has been defined according to the requirements provided by Italian Laws recently issued and approved by a National Technical Board.

The rebuilding of the N family, a large Italian kindred affected by early-onset autosomal dominant Alzheimer's disease (AD), provided an important contribution to the discovery of Presenilin 1 (PSEN1), the main gene responsible for familial AD. This pedigree was identified with the help of medical records from the archives of the Psychiatric Hospital of Girifalco, Italy. The clinical record of Angela R., an ancestor of the N family, dating back to 1904, showed a clinical picture of Angela R., consistent with a diagnosis of non-amnestic probable AD, matching the "dysexecutive" phenotype described in her descendants. The a posteriori diagnosis of AD is supported by the evidence of the causative genetic mutation PSEN1-Met146Leu as well as neuropathological AD features in her genealogically proven descendants. The clinical case of Angela R. was recorded at the same time of Alzheimer's description of Auguste D. Its discovery crucially contributed to the genealogical reconstruction of the N family, linking came from different branches, which until then were unrelated, to the same kindred. The archives of the Girifalco Hospital represented a valuable source of medical and historical information and were essential to the research on Italian-American AD families that finally led to the identification of new genes.

No abstract