Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the 45,X/46,XX mosaic karyotype (15-25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.

[Relevance of the theory of High Reliability Organizations in Assisted Reproductive Technology]. / Intérêt de la théorie des organisations à haute fiabilité en Assistance Médicale à la Procréation (AMP).

OBJECTIVES: The objective of this study was to assess the value of applying operating principles for High Reliability Organizations (HROs) to Assisted Reproductive Technology (ART) centres in order to optimise their operation and results. METHODS: Two exploratory qualitative case studies, in the form of ethnographic observations, were conducted in two public hospitals (Antoine-Béclère Hospital, Clamart and Nantes University Hospital). The studies analysed the structural and functional characteristics of these centres compared to HROs. Specific interviews, based on the HRO model from Roberts and Rousseau (1989), were also carried out. RESULTS: The in vitro fertilisation (IVF) procedure is comprised of a sequence of steps for which success depends on the cooperation of a range of medical staff across various specialties. Patients themselves must also play an active part in the protocol. From the different points analysed, the comparison between the characteristics of IVF activity at the ART units and those of HROs reveals structural and functional similarities, however there are also cultural differences. CONCLUSION: The study concluded that ART centres are complex healthcare organisations that face similar challenges to HROs and that they could improve their operational performance by adopting an HRO culture. To confirm the interest of this strategy, it would be useful to clarify these preliminary results by extending the exploratory study to include several public and private ART centres, and to explore the patient/couple dimension before initiating an interventional study.