Effectiveness of a multidisciplinary clinical pathway for women with systemic lupus erythematosus and/or antiphospholipid syndrome

Objectives SLE and/or antiphospholipid syndrome (SLE/APS) are complex and rare systemic autoimmune diseases that predominantly affect women of childbearing age. Women with SLE/APS are at high risk of developing complications during pregnancy. Therefore, clinical practice guidelines recommend that patients with SLE/APS should receive multidisciplinary counselling before getting pregnant. We investigated the clinical effectiveness of implementing a multidisciplinary clinical pathway including prepregnancy counselling of patients with SLE/APS. Methods A clinical pathway with specific evaluation and prepregnancy counselling for patients with SLE/APS was developed and implemented in a tertiary, academic hospital setting. Patients were prospectively managed within the clinical pathway from 2014 onwards and compared with a retrospective cohort of patients that was not managed in a clinical pathway. Primary outcome was a combined outcome of disease flares for SLE and thromboembolic events for APS. Secondary outcomes were maternal and fetal pregnancy complications. Results Seventy-eight patients with 112 pregnancies were included in this study. The primary combined outcome was significantly lower in the pathway cohort (adjusted OR (aOR) 0.20 (95% CI 0.06 to 0.75)) which was predominantly determined by a fivefold risk reduction of SLE flares (aOR 0.22 (95% CI 0.04 to 1.09)). Maternal and fetal pregnancy complications were not different between the cohorts (respectively, aOR 0.91 (95% CI 0.38 to 2.17) and aOR 1.26 (95% CI 0.55 to 2.88)). Conclusions The outcomes of this study suggest that patients with SLE/APS with a pregnancy wish benefit from a multidisciplinary clinical pathway including prepregnancy counselling.Research into fetal development and medicin

Fine-Scale Mapping of the 4q24 Locus Identifies Two Independent Loci Associated with Breast Cancer Risk

Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P = 2.51 × 10−4; OR, 1.04; 95% confidence interval (CI), 1.02–1.07] and rs77928427 (P = 1.86 × 10−4; OR, 1.04; 95% CI, 1.02–1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2 ≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor–binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk

DIFFUSION QUASI ELASTIQUE SUR DES GROUPEMENTS DE NUCLEONS DANS LES NOYAUX 7Li et 12C à 156 MeV

On a étudié la diffusion quasi élastique (p, pt) sur 7Li ; la corrélation angulaire présente la forme caractéristique d'une distribution de quantité de mouvement L ≠ 0 (2P). On compare les probabilités de groupement de nucléons ("clustérisation") de 7Li → (t + α), 6Li → (d + α) et (t + 3He). La réaction 12C(p, pd)10B a également été étudiée ; les spectres en énergie du noyau résiduel semblent en accord avec les prévisions de Balashov et al. faites dans le cadre du modèle en couches en couplage intermédiaire.The quasi elastic scattering reaction (p, pt) on 7Li has been studied at 156 MeV ; the angular correlation has the shape typical of a L ≠ 0 (2P) momentum distribution. Probabilities of clustering corresponding to the parentages 7Li → t + α, 6Li → d + α and 6Li → t + 3He are compared. The reaction 12C(p, pd)10B has also been studied in the quasi-elastic domain ; the experimental residual nucleus energy spectra appear to be in agreement with the intermediate coupling shell-model calculations of Balashov et al

Momentum distribution and two-body short range correlations in 16O(e,e'p)

To be published in EIPC Proceedings 1989. Presented by G.P. Capitani at "Topical Workshop . ."SIGLEITItal