The Experience of Pregnancy Discovery andAcceptance: A Descriptive Study Based on freeHierarchical Evocation by Associative Networks

Women’s childbearing experiences vary with pregnancy intentional nature and outcome. An Associative Network study targeted 129 women pregnant >1 year ago and their experiences at pregnancy start and post-pregnancy. Word-associations formed 15 themes and 5 metathemes. The main pregnancy discovery themes were “Affect” (39%), “Relationships with others” (11%), and “Logistics” (7%). The main post-pregnancy themes were “Affect” (18%), “Relationship with the child” (13%), and “Personal progress” (12%). The overall polarity index was higher in intended vs. unintended pregnancies. Whatever pregnancy outcome, women expressed impressions of constructive experience. Discovering pregnancy and deciding about it led anyway to personal and social progress

Responsiveness of the Motor Function Measure in Patients With Spinal Muscular Atrophy

Abstract Objective: To assess the ability of the Motor Function Measure (MFM) to detect changes in the progression of spinal muscular atrophy (SMA). Design: Observational, retrospective, multicenter cohort study. Setting: Seventeen departments of pediatric physical medicine. Participants: Volunteer patients with SMA (NZ112) aged 5.7 to 59 years with no treatment other than physical therapy and nutritional or respiratory assistance. Interventions: Not applicable. Main Outcome Measures: The distributions of the MFM scores (total score and 3 subscores) were analyzed per SMA subtype. The relationships between scores and age were studied. The slopes of score changes (reflecting MFM responsiveness) were estimated in patients with at least 6 months' follow-up and 2 MFMs. Hypothetical sample sizes for specific effect sizes in clinical trial scenarios are given. Results: In 12 patients with SMA type 2 and 19 with SMA type 3 (mean AE SD follow-up, 25.8AE19mo), there was a moderate inverse relationship between age and the MFM total score. Patients with less than 6 months' follow-up showed little score changes. Patients with longer follow-ups showed a slow deterioration (À0.9 points/y for type 2 and À0.6 points/y for type 3). Substantial responsiveness was obtained with the MFM Dimension 2 subscore (proximal and axial motricity) in patients with SMA type 2 (standardized response mean [SRM]Z1.29), and with the MFM Dimension 1 subscore (standing and transfers) in patients with SMA type 3 aged 10 to 15 years (SRMZ.94). Conclusions: If further confirmed by larger studies, these preliminary results on the relative responsiveness of the MFM in SMA will foster its use in monitoring disease progression in patients who participate in clinical trials

Flexible and structured survival model for a simultaneous estimation of non-linear and non-proportional effects and complex interactions between continuous variables: Performance of this multidimensional penalized spline approach in net survival trend analysis.

Cancer survival trend analyses are essential to describe accurately the way medical practices impact patients' survival according to the year of diagnosis. To this end, survival models should be able to account simultaneously for non-linear and non-proportional effects and for complex interactions between continuous variables. However, in the statistical literature, there is no consensus yet on how to build such models that should be flexible but still provide smooth estimates of survival. In this article, we tackle this challenge by smoothing the complex hypersurface (time since diagnosis, age at diagnosis, year of diagnosis, and mortality hazard) using a multidimensional penalized spline built from the tensor product of the marginal bases of time, age, and year. Considering this penalized survival model as a Poisson model, we assess the performance of this approach in estimating the net survival with a comprehensive simulation study that reflects simple and complex realistic survival trends. The bias was generally small and the root mean squared error was good and often similar to that of the true model that generated the data. This parametric approach offers many advantages and interesting prospects (such as forecasting) that make it an attractive and efficient tool for survival trend analyses

Comparison of Methods to Correct Survival Estimates and Survival Regression Analysis on a Large HIV African Cohort

The evaluation of HIV treatment programs is generally based on an estimation of survival among patients receiving antiretroviral treatment (ART). In large HIV programs, loss to follow-up (LFU) rates remain high despite active patient tracing, which is likely to bias survival estimates and survival regression analyses

My article has just been rejected!

Unfortunately, articles submitted to journals are rejected more frequently than is desirable. Journals themselves estimate that more than 60% of submitted articles are rejected without review (for top journals, the figure may even be 80%). Thus, whatever an article’s content or quality, an outright rejection should be expected right from the time of submission, and a reaction strategy defined beforehand. Each rejection should be carefully examined and fully understood before attempting any response. Here are some hints for beginners—or for edgy authors

My article has just been rejected!

Unfortunately, articles submitted to journals are rejected more frequently than is desirable. Journals themselves estimate that more than 60% of submitted articles are rejected without review (for top journals, the figure may even be 80%). Thus, whatever an article’s content or quality, an outright rejection should be expected right from the time of submission, and a reaction strategy defined beforehand. Each rejection should be carefully examined and fully understood before attempting any response. Here are some hints for beginners—or for edgy authors

What to tell and never tell a reviewer

The specialized literature abounds in recommendations about the most desirable technical ways of answering reviewers’ comments on a submitted manuscript. However, not all publications mention authors’ and/or reviewers’ feelings or reactions about what they may read or write in their respective reports, and even fewer publications tackle openly what may or may not be said in a set of answers to a reviewer’s comments. In answering reviewers’ comments, authors are often attentive to the technical or rational aspects of the task but might forget some of its relational aspects. In their answers, authors are expected to make every effort to abide by reviewers’ suggestions, including discussing major criticisms, editing the illustrations, or implementing minor corrections; abstain from questioning a reviewer’s competence or willingness to write a good re­view, including full and attentive reading and drafting useful comments; clearly separate their answers to each reviewer; avoid skipping, merging, or reordering reviewers’ comments; and, finally, specify the changes made. Authors are advised to call on facts, logic, and some diplomacy, but never on artifice, concealment, or flattery. Failing to do so erodes the trust between authors and reviewers, whereas integrity is expected and highly valued. The guiding principle should always be honesty

Hormonal Predictors of Abnormal Luteal Phases in Normally Cycling Women

Objective: Explore potential relationships between preovulatory, periovulatory, and luteal-phase characteristics in normally cycling women.Design: Observational study.Setting: Eight European natural family planning clinics.Patient(s): Ninety-nine women contributing 266 menstrual cycles.Intervention(s): The participants collected first morning urine samples that were analyzed for estrone-3 glucuronide (E1G), pregnanediol-3- alpha-glucuronide (PDG), follicle stimulating hormone (FSH), and luteinizing hormone (LH). The participants underwent serial ovarian ultrasound examinations.Main Outcome Measure(s): Four outcome measures were analyzed: short luteal phase, low mid-luteal phase PDG level (mPDG), normal then low luteal PDG level, low then normal luteal PDG level.Results: A long preovulatory phase was a predictor of short luteal phase, with or without adjustment for other variables. A high periovulatory PDG level was a predictor for short luteal phase as well as normal then low luteal PDG level. A low periovulatory PDG level predicted low mPDG and low then normal luteal PDG level, with or without adjustment for other variables. A small maximum follicle predicted normal then low luteal PDG level, with or without adjustment for other variables. The relationship between small maximum follicle size and short luteal phase or small maximum follicle size and low mPDG was no longer present when the regression was adjusted for certain characteristics. A younger age at menarche and a high body mass index were both predictors of low mPDG.Conclusion: Luteal phase abnormalities exist over a spectrum where some ovulation disorders may exist as deviations from the normal ovulatory process.This study confirms the negative impact of a small follicle size on the quality of the luteal phase. The occurrence of normal then low luteal PDG level is confirmed as a potential sign of luteal phase abnormality

Performance comparisons between clustering models for reconstructing NGS results from technical replicates

International audienceTo improve the performance of individual DNA sequencing results, researchers often use replicates from the same individual and various statistical clustering models to reconstruct a high-performance callset. Here, three technical replicates of genome NA12878 were considered and five model types were compared (consensus, latent class, Gaussian mixture, Kamila–adapted k-means, and random forest) regarding four performance indicators: sensitivity, precision, accuracy, and F1-score. In comparison with no use of a combination model, i) the consensus model improved precision by 0.1%; ii) the latent class model brought 1% precision improvement (97%–98%) without compromising sensitivity (= 98.9%); iii) the Gaussian mixture model and random forest provided callsets with higher precisions (both >99%) but lower sensitivities; iv) Kamila increased precision (>99%) and kept a high sensitivity (98.8%); it showed the best overall performance. According to precision and F1-score indicators, the compared non-supervised clustering models that combine multiple callsets are able to improve sequencing performance vs. previously used supervised models. Among the models compared, the Gaussian mixture model and Kamila offered non-negligible precision and F1-score improvements. These models may be thus recommended for callset reconstruction (from either biological or technical replicates) for diagnostic or precision medicine purposes

Adult-onset Still's disease

International audienceFirst described in 1971, adult-onset Still's disease (AOSD) is a rare multisystemic disorder considered as a complex (multigenic) autoinflammatory syndrome. A genetic background would confer susceptibility to the development of autoinflammatory reactions to environmental triggers. Macrophage and neutrophil activation is a hallmark of AOSD which can lead to a reactive hemophagocytic lymphohistiocytosis. As in the latter disease, the cytotoxic function of natural killer cells is decreased in patients with active AOSD. IL-18 and IL-1β, two proinflammatory cytokines processed through the inflammasome machinery, are key factors in the pathogenesis of AOSD; they cause IL-6 and Th1 cytokine secretion as well as NK cell dysregulation leading to macrophage activation. The clinico-biological picture of AOSD usually includes high spiking fever with joint symptoms, evanescent skin rash, sore throat, striking neutrophilic leukocytosis, hyperferritinemia with collapsed glycosylated ferritin (\textless20%), and abnormal liver function tests. According to the clinical presentation of the disease at diagnosis, two AOSD phenotypes may be distinguished: i) a highly symptomatic, systemic and feverish one, which would evolve into a systemic (mono- or polycyclic) pattern; ii) a more indolent one with arthritis in the foreground and poor systemic symptomatology, which would evolve into a chronic articular pattern. Steroid- and methotrexate-refractory AOSD cases benefit now from recent insights into autoinflammatory disorders: anakinra seems to be an efficient, well tolerated, steroid-sparing treatment in systemic patterns; tocilizumab seems efficient in AOSD with active arthritis and systemic symptoms while TNFα-blockers could be interesting in chronic polyarticular refractory AOSD