RaDiCo, the French national research program on rare disease cohorts.

Background: Rare diseases (RDs) affect nearly 3 million people in France and at least 26-30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin, often chronic, progressive, degenerative, life threatening and disabling, accounting for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national/international levels, based on high quality, interoperable and sharable data.

Recommendations for Improving the Quality of Rare Disease Registries.

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry.

Data Quality in Rare Diseases Registries.

In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases registries is considered to be one of the most important element in the establishment and maintenance of a registry. Data quality can be defined as the totality of features and characteristics of data set that bear on its ability to satisfy the needs that result from the intended use of the data.

Measuring handoff quality in labor and delivery: development, validation, and application of the Coordination of Handoff Effectiveness Questionnaire (CHEQ).

Background: A prospective, nonblinded intervention study was conducted (1) to evaluate the psychometric properties of a new questionnaire, the CHEQ (Coordination of Handoff Effectiveness Questionnaire) for measuring the quality of handoff interactions in labor and delivery (L&D) and (2) to demonstrate the utility of the CHEQ in evaluating the effectiveness of a previously described intervention, the tangible handoff, for standardizing handoffs in L&D.

Methods: The CHEQ incorporates three existing handoff-related scales: teamwork climate, job satisfaction, and burnout. Two new scales--information quality and process quality--were developed, refined, and evaluated.

Partial amniotic carbon dioxide insufflation during minimally invasive fetoscopic interventions seems safe for the fetal brain in sheep.

Background: Partial amniotic carbon dioxide insufflation (PACI) during fetoscopic interventions greatly improves visualization of intraamniotic contents. The purpose of this study was to assess any histologically discernable effects from this approach on the fetal brain after long-term survival in sheep.

Methods: Six pregnant ewes between 63 and 92 days of gestation underwent PACI after fetoscopic intraamniotic access.