6 research outputs found
Ăvaluation du pronostic materno-fĆtal chez des femmes avec un antĂ©cĂ©dent de chirurgie bariatrique comparativement Ă celui de femmes obĂšses non opĂ©rĂ©es
Introduction : le nombre de chirurgies bariatriques, notamment chez la femme en Ăąge de procrĂ©er est en constante augmentation. La grossesse aprĂšs chirurgie bariatrique maternelle est donc une situation clinique Ă laquelle les praticiens sont de plus en plus confrontĂ©s. La littĂ©rature actuelle est inconstante sur les risques qui peuvent y ĂȘtre associĂ©s et sâest peu intĂ©ressĂ©e Ă lâimplication du statut nutritionnel de ces patientes dans la survenue de complications maternelles ou fĆtales. Objectifs : Ă©valuer le pronostic materno-fĆtal des grossesses aprĂšs chirurgie bariatrique comparativement Ă celui de grossesses chez des femmes obĂšses non-opĂ©rĂ©es. Ătablir un Ă©tat des lieux du statut nutritionnel et du suivi pendant la grossesse de ces patientes aux antĂ©cĂ©dents de chirurgie bariatrique. MatĂ©riels et mĂ©thodes : nous avons conduit une Ă©tude observationnelle rĂ©trospective basĂ©e sur les donnĂ©es de grossesse obtenues Ă partir du dossier mĂ©dical informatisĂ© de femmes ayant accouchĂ© entre DĂ©cembre 2017 et Juillet 2019 au CHU de La Conception. RĂ©sultats : 19 femmes avec un antĂ©cĂ©dent de chirurgie bariatrique et 254 femmes obĂšses non-opĂ©rĂ©es Ă©taient incluses dans cette Ă©tude. La chirurgie bariatrique comparativement Ă lâobĂ©sitĂ© sans chirurgie prĂ©alable Ă©tait associĂ©e de façon significative Ă un poids de naissance plus faible (3068,6 ± 504,2 g vs 3386,1 ± 660,9 g ; p=0,006) et Ă cinq fois plus de malformations congĂ©nitales chez les nouveaux nĂ©s (21,1% vs 4,1% ; p=0,013). Il existait dans les grossesses aprĂšs chirurgie bariatrique une tendance Ă la diminution du taux de complications cardio-mĂ©taboliques (diabĂšte gestationnel et hypertension gravidique) ainsi que du taux de macrosomie et de nouveaux nĂ©s ayant un gros poids pour lâĂąge gestationnel (LGA). Le statut nutritionnel pendant la grossesse des femmes opĂ©rĂ©es Ă©tait marquĂ© par de nombreuses carences et une insuffisance dâapports en macro et micronutriments. Le suivi nutritionnel de ces patientes Ă©tait largement perfectible. Conclusion : la chirurgie de lâobĂ©sitĂ© entraine des carences nutritionnelles pouvant ĂȘtre responsables dâun sur risque de complications pĂ©rinatales telles que des malformations congĂ©nitales ou une diminution du poids de naissance pouvant conduire Ă un petit poids pour lâĂąge gestationnel (SGA). Une prise en charge pluridisciplinaire, guidĂ©e par de nouvelles recommandations de bonne pratique permettrait de limiter ce risque
Considering the measurement noise for a nonlinear system identification with evolutionary algorithms.
International audienceThis paper deals with the identi cation of a nonlinear system modelled by a nonlinear output error (NOE) model when the system output is disturbed by an additive zero-mean white Gaussian noise. In that case, standard on-line or off-line least squares methods may lead to poor results. Here, our approach is based on evolutionary algorithms. Although their computational cost can be higher than the above methods, these algorithms present some advantages, which often lead to an effortless optimisation. Indeed, they do not need an elaborate formalisation of the problem. When their parameters are correctly tuned, they avoid to get stuck at a local optimum. To take into account the in uence of the additive noise, we investigate different approaches and we suggest a whole protocol including the selection of a tness function and a stop rule. Without loss of generality, simulations are provided for two nonlinear systems and various signal-to-noise ratios
New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions
TMEM165 is a Golgi protein playing a crucial role in Mn2+ transport, and whose mutations in patients are known to cause Congenital Disorders of Glycosylation. Some of those mutations affect the highly-conserved consensus motifs E-Ï-G-D-[KR]-[TS] characterizing the CaCA2/UPF0016 family, presumably important for the transport of Mn2+ which is essential for the function of many Golgi glycosylation enzymes. Others, like the G>R304 mutation, are far away from these motifs in the sequence. Until recently, the classical membrane protein topology prediction methods were unable to provide a clear picture of the organization of TMEM165 inside the cell membrane, or to explain in a convincing manner the impact of patient and experimentally-generated mutations on the transporter function of TMEM165. In this study, AlphaFold 2 was used to build a TMEM165 model that was then refined by molecular dynamics simulation with membrane lipids and water. This model provides a realistic picture of the 3D protein scaffold formed from a two-fold repeat of three transmembrane helices/domains where the consensus motifs face each other to form a putative acidic cation-binding site at the cytosolic side of the protein. It sheds new light on the impact of mutations on the transporter function of TMEM165, found in patients and studied experimentally in vitro, formerly and within this study. More particularly and very interestingly, this model explains the impact of the G>R304 mutation on TMEM165âs function. These findings provide great confidence in the predicted TMEM165 model whose structural features are discussed in the study and compared to other structural and functional TMEM165 homologs from the CaCA2/UPF0016 family and the LysE superfamily
Incertitude médicale, prise de décision et accompagnement en fin de vie
Ce numĂ©ro thĂ©matique sur lâincertitude mĂ©dicale, la prise de dĂ©cision et lâaccompagnement en fin de vie relĂšve quelques-uns des enjeux que comportent les dĂ©cisions complexes et plurielles autour de la mort. La technologie et la biotechnologie rĂ©duisant les morts spontanĂ©es en milieu hospitalier, les professionnels du soin, les personnes malades et leurs proches doivent dĂ©sormais composer avec des situations jadis exceptionnelles. Les articles rĂ©unis dans ce numĂ©ro sâappuient sur des corpus diversifiĂ©s, recueillis dans diffĂ©rents contextes nationaux (France, Italie, Suisse, QuĂ©bec), ancrĂ©s dans un Ă©ventail de perspectives (les maladies gĂ©nĂ©tiques, le cancer, la nĂ©onatalogie ou les soins intensifs), dans diffĂ©rents lieux (lâhĂŽpital, les maisons et les unitĂ©s de soins palliatifs ou encore le domicile) et Ă diffĂ©rents moments de la fin de vie (la palliation, la phase terminale, la sĂ©dation). In this special issue about medical uncertainty, decision-making and end-of-life accompaniment, the authors identify some of the various stakes of complex and plural decisions related to death. Technology and biotechnology reduce spontaneous deaths in hospitals. Thus, healthcare professionals, sick individuals and their relatives must now deal with situations once exceptional. The articles presented in this issue draw on corpuses of data that were collected in several national contexts (France, Italy, Switzerland, and Quebec) and diverse locations (hospital, palliative care unit, home). They broach end of life from manifold perspectives (genetic disorders, cancer, neonatal care, intensive care) and at various moments of it (palliation, terminal moments, and sedation)
Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant
International audienc
Early Cardiac Toxicity Associated With Post-Transplant Cyclophosphamide in Allogeneic Stem Cell Transplantation
International audienceBackgroundPost-transplant cyclophosphamide (PT-Cy) has become a standard of care in haploidentical hematopoietic stem cell transplantation (HSCT) to reduce the risk of graft-versus-host disease. However, data on cardiac events associated with PT-Cy are scarce.ObjectivesThis study sought to assess the incidence and clinical features of cardiac events associated with PT-Cy.MethodsThe study compared clinical outcomes between patients who received PT-Cy (n = 136) and patients who did not (n = 195), with a focus on early cardiac events (ECE) occurring within the first 100 days after HSCT. All patients had the same systematic cardiac monitoring.ResultsThe cumulative incidence of ECE was 19% in the PT-Cy group and 6% in the noâPT-Cy group (p < 0.001). The main ECE occurring after PT-Cy were left ventricular systolic dysfunction (13%), acute pulmonary edema (7%), pericarditis (4%), arrhythmia (3%), and acute coronary syndrome (2%). Cardiovascular risk factors were not associated with ECE. In multivariable analysis, the use of PT-Cy was associated with ECE (hazard ratio: 2.7; 95% confidence interval: 1.4 to 4.9; p = 0.002]. Older age, sequential conditioning regimen, and Cy exposure before HSCT were also associated with a higher incidence of ECE. Finally, a history of cardiac events before HSCT and ECE had a detrimental impact on overall survival.ConclusionsPT-Cy is associated with a higher incidence of ECE occurring within the first 100 days after HSCT. Patients who have a cardiac event after HSCT have lower overall survival. These results may help to improve the selection of patients who are eligible to undergo HSCT with PT-Cy, especially older adult patients and patients with previous exposure to Cy