Étude de la variabilité de l'échelle de Sunnybrook dans l'évaluation des paralysies faciales périphériques

L’évaluation clinique de la paralysie faciale périphérique (PFP) nécessite un outil objectif, fiable et reproductible afin d’évaluer la sévérité de la paralysie et de suivre son évolution dans le temps. Le grading de Sunnybrook est l’échelle la plus utilisée en littérature scientifique, cependant elle est évaluateur-dépendant et non objective. Elle est donc sujette à différents degrés de variabilité.Notre travail a eu pour finalité la rédaction d’un article original « Sunnybrook Facial Grading System: Intra-rater and inter-rater variabilities » soumis à une revue anglophone Otology & Neurotology.Les objectifs de notre étude étaient d’évaluer les variabilités intra et inter-évaluateurs du grading de Sunnybrook et d’identifier d’éventuels facteurs de variabilité.Les enregistrements vidéo de 20 patients présentant des degrés variables de PFP ont été anonymisés puis présentés au hasard à 31 évaluateurs indépendants lors de 2 sessions. Les évaluateurs étaient des professionnels seniors et juniors impliqués dans la prise en charge des patients atteints de PFP (ORL, kinésithérapeutes, orthophonistes). Le grading de Sunnybrook a été utilisé pour coter les paralysies. Les variabilités intra-évaluateur et inter-évaluateurs ont été mesurées par le coefficient de corrélation intra-classe (ICC) pour le score composite et les trois sous-scores de l’échelle.Selon nos résultats, le grading de Sunnybrook présente une reproductibilité importante à presque parfaite dans le temps. Il est aussi reproductible d’un évaluateur à l’autre, avec un accord presque parfait pour le score global et le mouvement volontaire, et modéré pour la symétrie au repos et les syncinésies. Malgré des différences observées entre les groupes d’évaluateurs, la reproductibilité reste bonne pour tous les évaluateurs. Ainsi, le grading de Sunnybrook peut être utilisé avec une bonne reproductibilité par les seniors et les juniors, et par les tous les professionnels impliqués dans la prise en charge des patients atteints de PFP

[In Process Citation].

International audienceOBJECTIVE: To study how differences in birth management can influence the frequency and types of perineal lesions. MATERIAL AND METHODS: We compared outcomes and obstetric practices during labour and birth in low-risk primiparous women in two maternity units: one Canadian (maternitA Sainte-Justine, Montreal, Quebec), one French (maternité Cochin-Port-Royal, Paris). We compared the occurrence of perineal lesions--episiotomy and severe perineal tear--in these two maternity units according to delivery method. Furthermore, we studied risk factors for perineal lesions using univariate and multivariate analyses. RESULTS: Among the 1044 births in Montreal and the 1154 births in Paris, the Caesarian-section rate, about 19%, was comparable in both maternity units. Among primiparous women who had a vaginal delivery, the rate of instrumental extraction was higher in the French unit than in the Canadian one (28.2% vs. 21.5%, P < 0.001). The rate of episiotomy was significantly higher in the French unit (65.9%) than in the Canadian one (23.2%), whether the vaginal delivery was spontaneous (OR adjusted = 5.8 [4.4-7.7]) or assisted (OR adjusted = 120.2 [61.0-23.1]). The rate of severe perineal tear was significantly higher in the Canadian maternity unit (11.1%) than in the French one (1.3%), whether the vaginal delivery was spontaneous (OR adjusted = 17.4 [2.4-128.7]) or assisted (OR adjusted = 45.7 [6.1-343.4]). CONCLUSION: The significant differences in episiotomy and severe perineal tear rates observed in low-risk primiparous women are in part due to the different methods used to manage delivery in these two maternity units, particularly with regard to the angle of incision during episiotomy: median in Canada and median-lateral in France

[Nifedipine or nicardipine in management of threatened preterm delivery: an observational population-based study].

International audienceOBJECTIVE: For the first line tocolysis, calcium channel blockers (CCB)--oral nifedipine (Adalate®) or intravenous nicardipine (Loxen®)--are frequently used in France. No study compared nifedipine and nicardipine in management of threatened preterm delivery. From data of a French observational study, we compared factors associated with the use of nifedipine and nicardipine. Efficacy and tolerance of the two treatments were also compared. METHODS: It was a secondary analysis of EVAPRIMA study, a practice survey describing management of threatened preterm delivery in 107 French maternity units. Only women who received calcium channel blockers in their first line tocolytic therapy were included. We studied obstetrical factors associated with the choice of nifedipine or nicardipine. We also analyzed factors associated with a delivery within seven days following admission using univariate and multivariate analysis. Adverse secondary effects were compared between women who received nifedipine or nicardipine. RESULTS: Three hundred and four women received calcium channel blockers for their first line tocolytic therapy, in 73 maternity units: 93 (30.6%) women received oral nifedipine and 211 (69.4%) intravenous nicardipine. The same CCB was always prescribed in 69 maternity units. Admission after in utero transfer was less frequent among women who received nifedipine (6.5% versus 17.1%, P=0.01). Premature rupture of the membranes was also less frequent among women who received nifedipine (4.3% versus 13.7%, P=0.02), in comparison with women who received nicardipine. Median duration between admission for threatened preterm labor and delivery was longer when nifedipine was used (44 days versus 36 days, P=0.04). After adjustment on obstetrical factors, the risk to have a delivery within 7 days following admission was not significantly different between nifedipine and nicardipine groups (adjusted OR=0.5 [0.2-1.2]). Among women who received nifedipine only two cases (2.1%) of adverse event were reported with only one case needing a switch of treatment. Thirteen (6.2%) cases of adverse event were reported among women who received nicardipine (P=0.16); in three cases it motivated a switch. However, due to bias and limits inherent in such studies, our results should be interpreted cautiously. CONCLUSION: Nicardipine is the first choice for French obstetricians in management of severe threatened preterm delivery. However, intravenous nicardipine does not increase gestational duration in comparison with oral nifedipine

Sunnybrook Facial Grading System: Intra-rater and Inter-rater Variabilities

International audienceObjectives: Evaluate intra-rater and inter-rater variabilities of the Sunnybrook Facial Grading System (SFGS) and explore potential factors of variability.Study design: Prospective test of hypothesis.Setting: University tertiary referral center.Participants/methods: Facial video recordings of 20 patients with variable degrees of peripheral facial palsy (PFP) were anonymized then presented to 31 independents raters in 2 trials. The raters were senior and junior professionals involved in the management of PFP: ENT specialists, physiotherapists, and speech therapists. The SFGS was used for grading paralysis.Main outcome measure: Intra-rater and inter-rater variabilities were estimated by intraclass correlation coefficient (ICC [95% confidence interval]) for the composite score and the three subscores of the SFGS. Factors of variability studied were: rater professions and rater experience (senior vs junior).Results: For the total population, the intra-rater ICC was 0.915[0.900-0.929] for the composite score considered to represent almost perfect repeatability. Repeatability was important for symmetry at rest (0.694[0.646-0.737]), almost perfect for voluntary movements (0.903[0.886-0.918]), and important to almost perfect for synkinesis (0.810[0.778-0.838]). The inter-rater ICC for the composite score was 0.847[0.755-0.923] indicating important to almost perfect agreement between all raters. Agreement between raters was important to almost perfect for voluntary movements (0.839[0.746-0.919]), but moderate to important for symmetry at rest (0.553[0.408-0.730]) and weak to important for synkinesis (0.476[0.333-0.666]). Some variability was found between raters groups; however, repeatability and agreement were good for all raters.Conclusions: The SFGS is a reproducible scale. It can be used with good reproducibility by both novices and experts, and by all professionals involved in the management of PFP

In situ 3D X-ray microtomography of laser-based powder-bed fusion (L-PBF) - A feasibility study

International audienceX-ray microtomography can be used to characterise objects undergoing fabrication by additive manufacturing. During the layer-by-layer building process, it can provide key information about geometry, roughness and it can even reveal typical defects such as lack-of-fusion porosity, gas pores or cracks. Usually, objects are built with varied processing parameters and then characterised post-mortem. In the present work, we describe our custom-designed additive manufacturing chamber allowing in situ 3D-non-destructive characterisation to be performed during layer-by-layer construction using synchrotron X-ray microtomography. Scans before (subsequently to powder deposition) and after local laser melting are acquired for every layer. A few examples of such a characterisation demonstrate the ability of the setup to reproduce conditions close to those used in conventional laser powder-bed fusion devices and to reveal key phenomena

Molecular Characterization of a Rare Case of Monozygotic Dichorionic Diamniotic Twin Pregnancy after Single Blastocyst Transfer in Preimplantation Genetic Testing (PGT)

International audiencePreimplantation genetic testing (PGT) is widely used to select unaffected embryos, increasing the odds of having a healthy baby. During the last few decades, it was accepted that monozygotic dichorionic diamniotic twin pregnancies occurred from the embryo splitting before Day 3 postfertilization according to Corner’s dogma. Hence, the occurrence of a dichorionic diamniotic twin pregnancy after a single blastocyst transfer was considered a dizygotic pregnancy resulting from blastocyst transfer and concurrent natural fertilization. In our study, we have provided for the first time molecular proof that a single blastocyst transfer can result in a monozygotic dichorionic diamniotic twin pregnancy, invalidating Corner’s dogma. In this case, we recommend systematically assessing the genetic status of dichorionic twins after single blastocyst transfer using prenatal diagnosis to exclude the risk from a potential concurrent spontaneous pregnancy and to ensure that both fetuses are unaffected. To achieve this goal, we have developed here an innovative noninvasive prenatal diagnosis by exclusion of paternal variants with droplet digital PCR, maximizing the reliability of genetic diagnosis. Further multicentric prospective studies using genetic testing are now required to establish the rate of blastocyst splitting leading to dichorionic pregnancy in PGT and to identify the risk factors

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

International audienceCongenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling. Four loss-of-function and 12 damaging missense variants, 14 being absent from GnomAD, were identified. Twelve of them were present in familial or simplex BKA-affected case subjects. Female BKA-affected fetuses also displayed uterus agenesis. We demonstrated a significant association between GREB1L variants and BKA. By in situ hybridization, we showed expression of Greb1l in the nephrogenic zone in developing mouse kidney. We generated a Greb1l knock-out mouse model by CRISPR-Cas9. Analysis at E13.5 revealed lack of kidneys and genital tract anomalies in male and female Greb1l-/- embryos and a slight decrease in ureteric bud branching in Greb1l+/- embryos. We showed that Greb1l invalidation in mIMCD3 cells affected tubulomorphogenesis in 3D-collagen culture, a phenotype rescued by expression of the wild-type human protein. This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans

<i>BRAT1</i>-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

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