A collaborative model to implement flexible, accessible and efficient oncogenetic services for hereditary breast and ovarian cancer : the C-MOnGene study

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants' understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics

Bone Marrow Transplant

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy

Association of the PHACTR1/EDN1 genetic locus with spontaneous coronary artery dissection

Background: Spontaneous coronary artery dissection (SCAD) is an increasingly recognized cause of acute coronary syndromes (ACS) afflicting predominantly younger to middle-aged women. Observational studies have reported a high prevalence of extracoronary vascular anomalies, especially fibromuscular dysplasia (FMD) and a low prevalence of coincidental cases of atherosclerosis. PHACTR1/EDN1 is a genetic risk locus for several vascular diseases, including FMD and coronary artery disease, with the putative causal noncoding variant at the rs9349379 locus acting as a potential enhancer for the endothelin-1 (EDN1) gene. Objectives: This study sought to test the association between the rs9349379 genotype and SCAD. Methods: Results from case control studies from France, United Kingdom, United States, and Australia were analyzed to test the association with SCAD risk, including age at first event, pregnancy-associated SCAD (P-SCAD), and recurrent SCAD. Results: The previously reported risk allele for FMD (rs9349379-A) was associated with a higher risk of SCAD in all studies. In a meta-analysis of 1,055 SCAD patients and 7,190 controls, the odds ratio (OR) was 1.67 (95% confidence interval [CI]: 1.50 to 1.86) per copy of rs9349379-A. In a subset of 491 SCAD patients, the OR estimate was found to be higher for the association with SCAD in patients without FMD (OR: 1.89; 95% CI: 1.53 to 2.33) than in SCAD cases with FMD (OR: 1.60; 95% CI: 1.28 to 1.99). There was no effect of genotype on age at first event, P-SCAD, or recurrence. Conclusions: The first genetic risk factor for SCAD was identified in the largest study conducted to date for this condition. This genetic link may contribute to the clinical overlap between SCAD and FMD

Les espaces verts publics à Marseille : bilan d'une politique pour un meilleur environnement urbain (Note)

Saint Martin Yann. Les espaces verts publics à Marseille : bilan d'une politique pour un meilleur environnement urbain (Note). In: Méditerranée, tome 89, 2-3-1998. La ville et ses territoires en Méditerranée septentrionale, sous la direction de Roland Courtot . pp. 87-90

Allaitement et VIH (stratégies en milieu rural cambodgien)

BREST-BU Médecine-Odontologie (290192102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Statine et infection : quel impact sur le pronostic? (étude exposé/non exposé prospective en soin tertiaire)

BREST-BU Médecine-Odontologie (290192102) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Statin use does not affect the outcome of acute infection: a prospective cohort study.

International audienceUNLABELLED: Statins are used to prevent atherosclerosis because of their hypolipemic effects. In vitro testing and murine models suggest that statins may affect outcome in sepsis. Our meta-analysis of epidemiological studies in humans confirms that previous statin use appears to have a protective effect on infection rates and outcomes. The studies considered, however, were very different and heterogeneity was high, especially for mortality criteria. OBJECTIVE: To compare outcome for current statin users and nonusers hospitalized with fever, under pragmatic circumstances. DESIGN: Prospective cohort study. SETTING: University Hospital of Brest (France). PARTICIPANTS: Febrile (>38 degrees C) patients older than 40 years, admitted to the hospital on an emergency basis in 2005. Patients' outcome was compared according to their exposure to statins (current user or nonuser). MAIN OUTCOME MEASURES: Mortality, length of hospitalization, admission to ICU and to convalescent homes RESULTS: Of 40 343 patients referred for admission by the emergency department in 2005, 964 patients older than 40 years had a fever higher than 38 degrees C and were included in the study. Statin-user status, however, was available for only 921. The ICU admission rate (relative risk: 4.69; 95% CI: 2.42-9.08) was significantly higher (p=0.009) among statin users (n=139) than nonusers (n=782). The groups had similar lengths of hospitalization and similar rates of mortality and of convalescent home admissions. CONCLUSION: Our study does not confirm that statin use affects infection outcome and suggests that previous findings may be associated instead with more cautious care or nonspecific cardiovascular prevention rather than with a specific infection-related effect. Thus, these data support the continuation of statin therapy during physiological aggression, including infection

Bandgap nanoengineering of graphene tunnel diodes and tunnel transistors to control the negative differential resistance

International audienc