Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all pediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated ...patients who presented this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools. Knockdown of EPHB4 in zebrafish embryos leads to specific anomalies of dorsal cranial vessels including the dorsal longitudinal vein, wich is the orthologue of the median prosencephalic vein and the embryonic precursor of the vein of Galen. This model allowed us to investigate EPHB4 loss-of-function mutations in this disease by the ability to rescue the brain vascular defect in knockdown zebrafish co-injected with wild type but not truncated EPHB4, mimicking the p.His191Alafs mutation. Our data showed that in both species, loss of function mutations of EPHB4result in specific and similar brain vascular development anomalies. Recently, EPHB4 germline mutations have been reported in non-immune hydrops fetalis and in cutaneous capillary malformation–arteriovenous malformation. Here, we show that EPHB4 mutations are also responsible for vein of Galen aneurysmal malformation indicating that heterozygous germline mutations of EPHB4 result in a large clinical spectrum. The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. Endovascular embolization indeed greatly improved the prognosis of patients.
Patient education is the process by which health professionals impart information to patients and their caregivers that will alter their health behaviors; improve their health status to better manage ...their lives with a chronic disease. Patient education implies a profound paradigm shift in the conception of care among health professionals, and should result in structural care changes. Patient education has been promoted by the French Health system for 30years, including in the 2009 HPST law and Cancer Plan 2014-2019. A patient education program was designed in our hospital for breast cancer patients.
A multidisciplinary and transversal team of health professionals and resource patients was trained before grant application for funding of the program by the regional health care agency. Management of the project required that a functional unit be built for recording of all patient education related activities. A customized patient education program process was built under the leadership of a coordinator and several patient education project managers during bimonthly meetings, using an accurate timeline and a communication strategy to ensure full institutional support and team engagement.
The grant was prepared in four months and the program started within the next four months with the aim to include 120 patients during year 1. The program includes a diagnosis of patient abilities and well-being resources, followed by collective and individual workshops undertaken in 4months for each patient.
Patient education is positively evaluated by all participants and may contribute to better health care management in the long term but the financial and human resources allocated to such programs currently underestimate the needs. Sustainability of patient education programs requires that specific tools and more commitment be developed to support health care professionals and to promote patient coping and empowerment in the long term.
OBJECTIVE: To investigate prevalence of iron deficiency and examine the relationship between iron status and Health-related Quality of Life among female students. DESIGN: Cross-sectional study. ...Subjects and Setting: Data were collected from 543 female students, aged 17 to 38 years, attending University or secondary schools in Clermont-Ferrand (France) and its metropolitan area. Three groups were defined, according to the rate of serum ferritin: iron deficient (serum ferritin <15μg/L), iron depletion borderline (serum ferritin 15-20 μg/L), and iron replete (serum ferritin > 20 μg/L). Those 3 groups of menstruating female students were compared in terms of health-related quality of life using univariate analysis. Measures of Outcome: Health-related Quality of Life based on SF-36 questionnaire, and iron status measured by serum ferritin. RESULTS: The prevalence of iron deficiency was 19.3 %, the prevalence of borderline iron status was 11.4 %. Regarding the SF-36 questionnaire, the only significant difference between iron deficient and iron replete female students concerned the dimension reflecting 'general health', which was significantly lower in iron deficient group (p = 0.015). CONCLUSION: Iron deficiency seems to impair the perceived general health in female students. Further research should be conducted on this little known subject.
