The dynamical balance on the Amazon shelf and its implication on the properties of the Amazon River plume is not fully understood and poorly represented in global‐ and basin‐scale ocean models. In this study, the sensitivity of the Amazon shelf dynamics to tidal forcing is explored with a set of high‐resolution numerical simulations (1/36°) with and without the tide. A comparison of the simulations with sea surface salinity in situ measurements at 5°N (a location where the plume seasonally detaches from the coast and retroflects toward the east) revealed that the explicit resolution of the tide significantly improves the representation of the offshore spread of the river plume. This study further highlights the finding that tidal currents affect the properties of the whole Amazon plume. This sensitivity is explained by a near total collapse of the northwestward alongshore mean flow located near the river mouth, once the tidal forcing is included. This weakening of the ambient flow reduces (i) the dilution ratio between the ambient salty shelf waters and the riverine freshwaters and (ii) the constraint on the cross‐shore extension of the low‐salinity bulge. With tides, the plume is fresher near the river mouth (by up to 5 units), more extended in the cross‐shore direction, and more easily exported offshore by the North Brazil Current at the shelf break.

Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here we aimed to create specific growth charts for individuals with KS1, identify parameters used for size prognosis and investigate the impact of growth hormone therapy on adult height. Growth parameters and parental size were obtained for 95 KS1 individuals (41 females). Growth charts for height, weight, body mass index (BMI) and occipitofrontal circumference were generated in standard deviation values for the first time in KS1. Statural growth of KS1 individuals was compared to parental target size. According to the charts, height, weight, BMI, and occipitofrontal circumference were lower for KS1 individuals than the normative French population. For males and females, the mean growth of KS1 individuals was −2 and −1.8 SD of their parental target size, respectively. Growth hormone therapy did not increase size beyond the predicted size. This study, from the largest cohort available, proposes growth charts for widespread use in the management of KS1, especially for size prognosis and screening of other diseases responsible for growth impairment beyond a calculated specific target size.

Objective. Osteoarthritis (OA) is the most common joint disease worldwide. The etiology of OA is varied, ranging from multifactorial to environmental to monogenic. In a condition called early-onset OA, OA occurs at an earlier age than is typical in the general population. To our knowledge, there have been no large-scale genetic studies of individuals with early-onset OA. The present study was undertaken to investigate causes of monogenic OA in individuals with nonsyndromic early-onset OA. Methods. The study probands were 45 patients with nonsyndromic early-onset OA who were referred to our skeletal disease center by skeletal dysplasia experts between 2013 and 2019. Criteria for early-onset OA included radiographic evidence, body mass index ≤30 kg/m 2 , age at onset ≤50 years, and involvement of ≥1 joint site. Molecular analysis was performed with a next-generation sequencing panel. Results. We identified a genetic variant in 13 probands (29%); the affected gene was COL2A1 in 11, ACAN in 1, and SLC26A2 in 1. After familial segregation analysis, 20 additional individuals were identified. The mean ± SD age at onset of joint pain was 19.5 ± 3.9 years (95% confidence interval 3-47). Eighteen of 33 subjects (55%) with nonsyndromic early-onset OA and a genetic variant had had at least 1 joint replacement (mean ± SD age at first joint replacement 41 ± 4.2 years; mean number of joint replacements 2.6 per individual), and 21 (45%) of the joint replacement surgeries were performed when the patient was <45 years old. Of the 20 patients age >40 years, 17 (85%) had had at least 1 joint replacement. Conclusion. We confirmed that COL2A1 is the main monogenic cause of nonsyndromic early-onset OA. However, on the basis of genetic heterogeneity of early-onset OA, we recommend next-generation sequencing for all individuals who undergo joint replacement prior to the age of 45 years. Lifestyle recommendations for prevention should be implemented. ClinicalTrials.gov identifier: NCT04267510.

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We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers. These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers’ data are close to physicians’ data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age and age at first words. Each of the two datasets provide complementary knowledge. We confirmed that symptoms are similar to those in the literature and provide more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder was most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention-deficit/hyperactivity disorder, anxiety and sleep disorders need to be treated. In addition, we demonstrate preliminary evidence of a mild genome-wide DNA methylation profile in patients carrying mutations in DDX3X.

BackgroundPrecision medicine requires accurate phenotyping and data sharing, particularly for rare diseases. However, sharing medical letters across language barriers is challenging, as inconsistent and incomplete Human Phenotype Ontology (HPO) terms provided by physicians can lead to a loss of clinical information.MethodsTo assess the feasibility and the risk of using deep learning methods to translate, de-identify and summarize medical letters, we developed an open-source deep learning multi-language software in line with health data privacy. We conducted a non-inferiority clinical trial using deep learning methods versus a physician to de-identify protected health information (PHI) targeting a minimum sensitivity of 90% and specificity of 75%, and summarize non-English medical letters in HPO format, aiming a sensitivity of 75% and specificity of 90%.ResultsFrom March to April 2023, we evaluated 50 non-English medical letters from 8 physicians coming from 12 different indications of which neurodevelopmental disorders, congenital disorders, fetal pathology and oncology. Letter contains in median 15 PHI and 7 HPO terms. Deep learning method achieved a sensitivity of 99% and a specificity of 87% in de-identification, and a specificity of 92% in summarizing medical letters, reporting a median number of 6,6 HPO terms per letter, which is equivalent to the number of HPO terms provided usually by physicians in databases (6,8 in PhenoDB).ConclusionsDe-identification and summarization of non-English medical letters using deep learning methods, compared with the current manual physician’s method reports non-inferior performance, providing insights on AI usage to facilitate precision medicine.

Dans le cadre du projet pédagogique "les élèves hydrographes et roboticiens de l'ENSTA Bretagne explorent le lac de Guerlédan", un modèle hydro-sédimentaire haute résolution du lac de Guerlédan et de la retenue de Saint Aignan (centre Bretagne) a été développé à l'aide de TELEMAC. L'objectif de cette modélisation est de connaître la concentration maximale de sédiments sortant dans la rivière du Blavet en cas de crue extrême. Le modèle sera confronté aux observations collectées pendant les deux semaines de terrain prévues dans le projet afin de le valider. Le modèle final pourra être exploité en mettant en place un outil pour les exploitants du lac qui permettrait, en fonction des conditions de crue, des conditions météorologiques…, de visualiser le flux sédimentaire et ainsi d'avoir un outil de gestion du barrage de Saint Aignan.

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