The Tuscany Regional Network for rare diseases: from European Reference Networks' experience to registry based organisation and management model for rare diseases.

Background: In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the European Union. In 2004 Tuscany region (Italy) established a Regional Network of hospital units to ensure highly specialised medical care in the field of RDs.

A Questionnaire Integrated with the Digital Medical Record Improved the Coverage of a Control Program for Congenital Chagas Disease in Tuscany, Italy.

The leading route of Chagas disease transmission in nonendemic countries is congenital. However, policies concerning screening, prevention, and management of congenital Chagas disease are rare in these settings. Since 2012, serological screening for Chagas disease should be provided for pregnant women at risk in Tuscany, Italy according to a Regional resolution.

Screening for gestational diabetes in Tuscany, Italy. A population study.

Aims: According to current Italian guidelines, only women at higher risk of gestational diabetes (GDM) are eligible for receiving a glucose tolerance test (OGTT) during pregnancy. This study evaluates the compliance to national guidelines, additionally proposing an algorithm able to identify women with GDM.

Methods: The study included 23,270 pregnant women aged >15yr, resident in Tuscany, a region in central Italy, delivering in year 2015, identified by certificates of care at delivery.