La disponibilité à l’accident

Barbara Métais-Chastanier. Il y a des mots qui reviennent très souvent dans ce que tu dis : les mots de « fragilité », de « mise à l’épreuve par les faits », et « prise de risque »… J’ai l’impression que le mot qui revient derrière tout ça sans pour autant qu’il ait été prononcé c’est celui d’imprévu ou mieux d’accident.Tu opposais tout à l’heure la pratique cinématographique du story-board, minutage méticuleux et précis, à ta pratique qui part justement de l’imprévu dans la rencontre d’une i..

Attributes of children and adolescents with avoidant/restrictive food intake disorder.

BackgroundAvoidant/Restrictive Food Intake Disorder (ARFID) is a comparatively new DSM-5 diagnosis. In an effort to better understand this heterogeneous patient group, this study aimed to describe the physical and psychological attributes of children and adolescents with ARFID, and to compare them to patients with full-threshold or atypical anorexia nervosa (AN).MethodsChildren and adolescents aged 7-to-19 years (N = 193) were examined upon presenting at a pediatric eating disorder center between July 2015 and December 2017. Data included diagnosis assessed via the semi-structured Eating Disorder Examination interview along with measures of anthropometrics, depression, anxiety, self-esteem, perfectionism and clinical impairment.ResultsCompared to AN and atypical AN (n = 87), patients with ARFID (n = 106) were significantly younger (12.4 vs. 15.1 years, p < .0001), male (41% vs. 15%, p < .0002), and were more likely to be diagnosed with at least one co-morbid DSM-5 diagnosis (75% vs. 61%, p = .04). Patients with ARFID were less likely to be bradycardic (4.7% vs. 24.1%, p < .0001), amenorrheic (11.1 and 34.7%, p = .001), admitted to the hospital (14.2% vs. 27.6%, p = .02), and have a diagnosis of depression (18.9% vs. 48.3%, p < .0001). Patients with ARFID were significantly less likely to experience acute weight loss vs. chronic weight loss as compared with those with AN or atypical AN (p = .0001). On self-report measures, patients with ARFID reported significantly fewer symptoms of depression, anxiety, perfectionism, clinical impairment, concerns about weight and shape, and higher self-esteem than patients with AN or atypical AN (all ps < .0001). No differences were observed by race, anxiety disorder, orthostatic instability, suicidal ideation, and history of eating disorder treatment.ConclusionsStudy results highlight the clinical significance of ARFID as a distinct DSM-5 diagnosis and the physical and psychological differences between ARFID and AN/atypical AN. The novel finding that ARFID patients are more likely than those diagnosed with AN to experience chronic, rather than acute, weight loss suggests important related treatment considerations

Newborn screening for Pompe disease in Illinois: Experience with 684,290 infants

Statewide newborn screening for Pompe disease began in Illinois in 2015. As of 30 September 2019, a total of 684,290 infants had been screened and 395 infants (0.06%) were screen positive. A total of 29 cases of Pompe disease were identified (3 infantile, 26 late-onset). While many of the remainder were found to have normal alpha-glucosidase activity on the follow-up testing (234 of 395), other findings included 62 carriers, 39 infants with pseudodeficiency, and eight infants who could not be given a definitive diagnosis due to inconclusive follow-up testing

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. To date, six patients with either missense mutations affecting the UBE3B HECT domain or truncating mutations have been described. Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing. Our results expand the clinical and mutational spectrum of the UBE3B-related disorder in several ways. First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello-Carey syndrome as well as the patient reported to have a "new” syndrome by Buntinx and Majewski in 1990. Second, we describe the adult phenotype and clinical variability of the syndrome. Third, we report on the first instance of homozygous missense alterations outside the HECT domain of UBE3B, observed in a patient with mildly dysmorphic facial features. We conclude that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. We review the UBE3B-associated phenotypes, including forms that can mimick Toriello-Carey syndrome, and suggest the single designation "Kaufman oculocerebrofacial syndrome”

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

PURPOSE: Biallelic variants in TARS2, encoding the mitochondrial threonyl-tRNA-synthetase, have been reported in a small group of individuals displaying a neurodevelopmental phenotype, but with limited neuroradiological data and insufficient evidence for causality of the variants. METHODS: Exome or genome sequencing was carried out in 15 families. Clinical and neuroradiological evaluation was performed for all affected individuals, including review of 10 previously reported individuals. The pathogenicity of TARS2 variants was evaluated using in vitro assays, and a zebrafish model. RESULTS: We report 18 new individuals harboring biallelic TARS2 variants. Phenotypically, these individuals show developmental delay/intellectual disability, regression, cerebellar and cerebral atrophy, basal ganglia signal alterations, hypotonia, cerebellar signs and increased blood lactate. In vitro studies showed that variants within the TARS2301-381 region had decreased binding to Rag GTPases, likely impairing mTORC1 activity. The zebrafish model recapitulated key features of the human phenotype and unraveled dysregulation of downstream targets of mTORC1 signaling. Functional testing of the variants confirmed the pathogenicity in a zebrafish model. CONCLUSION: We define the clinico-radiological spectrum of TARS2-related mitochondrial disease, unveil the likely involvement of the mTORC1 signaling pathway as a distinct molecular mechanism, and establish a TARS2 zebrafish model as an important tool to study variant pathogenicity

DMTs and Covid-19 severity in MS: a pooled analysis from Italy and France

We evaluated the effect of DMTs on Covid-19 severity in patients with MS, with a pooled-analysis of two large cohorts from Italy and France. The association of baseline characteristics and DMTs with Covid-19 severity was assessed by multivariate ordinal-logistic models and pooled by a fixed-effect meta-analysis. 1066 patients with MS from Italy and 721 from France were included. In the multivariate model, anti-CD20 therapies were significantly associated (OR = 2.05, 95%CI = 1.39–3.02, p < 0.001) with Covid-19 severity, whereas interferon indicated a decreased risk (OR = 0.42, 95%CI = 0.18–0.99, p = 0.047). This pooled-analysis confirms an increased risk of severe Covid-19 in patients on anti-CD20 therapies and supports the protective role of interferon

Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre study

Purpose: Delirium is a neuropsychiatric disorder delineated by an acute change in cognition, attention, and consciousness. It is common, particularly in older adults, but poorly recognised. Frailty is the accumulation of deficits conferring an increased risk of adverse outcomes. We set out to determine how severity of frailty, as measured using the CFS, affected delirium rates, and recognition in hospitalised older people in the United Kingdom. Methods: Adults over 65 years were included in an observational multi-centre audit across UK hospitals, two prospective rounds, and one retrospective note review. Clinical Frailty Scale (CFS), delirium status, and 30-day outcomes were recorded. Results: The overall prevalence of delirium was 16.3% (483). Patients with delirium were more frail than patients without delirium (median CFS 6 vs 4). The risk of delirium was greater with increasing frailty [OR 2.9 (1.8–4.6) in CFS 4 vs 1–3; OR 12.4 (6.2–24.5) in CFS 8 vs 1–3]. Higher CFS was associated with reduced recognition of delirium (OR of 0.7 (0.3–1.9) in CFS 4 compared to 0.2 (0.1–0.7) in CFS 8). These risks were both independent of age and dementia. Conclusion: We have demonstrated an incremental increase in risk of delirium with increasing frailty. This has important clinical implications, suggesting that frailty may provide a more nuanced measure of vulnerability to delirium and poor outcomes. However, the most frail patients are least likely to have their delirium diagnosed and there is a significant lack of research into the underlying pathophysiology of both of these common geriatric syndromes

Temporal dynamic of microboring community successions and associated biogenic dissolution rates in coral reefs. What are the impacts of biotic and abiotic factors?

La dissolution biogénique réalisée par les microperforants constitue une des principales forces de destruction des récifs coralliens. Ce processus, stimulé par certains facteurs du changement global comme l'acidification, est encore peu connu et donc mal intégré dans les modèles de prédiction du devenir des récifs. Pour mieux comprendre ce processus et sa dynamique temporelle, des blocs de squelette corallien ont été exposés, sur un récif en Nouvelle-Calédonie, aux microperforants entre 1 et 12 mois et au cours de six séries temporelles; trois commençant en été et trois en hiver. Ainsi, les taux de dissolution biogénique ainsi que la diversité et l'abondance des microperforants ont été déterminés. En parallèle, un suivi de paramètres externes, abiotiques et biotiques, a été réalisé. Cette étude a mis en avant i/ trois étapes dans le processus de dissolution biogénique, décrites par un modèle logistique de croissance, contrôlées par les espèces microperforantes et par l'intensité du broutage ; ii/ les interactions entre les paramètres externes et la dynamique des successions de communautés microperforantes décrites dans un modèle conceptuel ; iii/ l'influence de paramètres externes sur la dynamique temporelle de la dissolution biogénique. Ainsi, Ostreobium quekettii, l'agent le plus actif dans la dissolution biogénique, est recruté plus rapidement et la dissolution biogénique augmente lorsque les squelettes sont exposés à des températures plus élevées ou soumis à une augmentation des nutriments. Ces résultats suggéreraient, dans le contexte du changement global, une accélération de la dissolution biogénique fragilisant d'autant plus les récifs coralliens.Biogenic dissolution of carbonates due to microborers is one of the main destructive forces in coral reefs. Unfortunately this biogeochemical process received low attention and thus is considered as negligible by prediction models of coral reefs future while this process seems to be stimulated by global change factors such as acidification. In this context, dead coral skeletons were exposed, on a reef in New Caledonia, to microborers for six temporal series from 1 to 12 months of exposure (three started in summer and three in winter). Study of coral blocks allowed to determine together biogenic dissolution rates, the diversity and the abundance of microborers. In parallel, external biotic and abiotic parameters were recorded monthly and/or continuously. This experiment highlighted for the first time; I/ three steps in the temporal dynamics of the biogenic dissolution, described by a growth logistic models, driven by microborer communities and grazing intensity; II/ The interactions between microboring community successions and external parameters described by a conceptual model; III/ the influence of external parameters on the dynamic of biogenic dissolution. Thus, results showed an early installation of Ostreobium quekettii, the main agent of the biogenic dissolution and an increase of this process due to higher seawater temperature or nutrients. This suggests, in the context of global change, an acceleration of the biogenic dissolution weakening even more coral reef ecosystems

La dynamique temporelle des successions de communautés microperforantes et des taux de dissolution associés en milieu récifal. Quelle influence des paramètres biotiques/abiotiques ?

Biogenic dissolution of carbonates due to microborers is one of the main destructive forces in coral reefs. Unfortunately this biogeochemical process received low attention and thus is considered as negligible by prediction models of coral reefs future while this process seems to be stimulated by global change factors such as acidification. In this context, dead coral skeletons were exposed, on a reef in New Caledonia, to microborers for six temporal series from 1 to 12 months of exposure (three started in summer and three in winter). Study of coral blocks allowed to determine together biogenic dissolution rates, the diversity and the abundance of microborers. In parallel, external biotic and abiotic parameters were recorded monthly and/or continuously. This experiment highlighted for the first time; I/ three steps in the temporal dynamics of the biogenic dissolution, described by a growth logistic models, driven by microborer communities and grazing intensity; II/ The interactions between microboring community successions and external parameters described by a conceptual model; III/ the influence of external parameters on the dynamic of biogenic dissolution. Thus, results showed an early installation of Ostreobium quekettii, the main agent of the biogenic dissolution and an increase of this process due to higher seawater temperature or nutrients. This suggests, in the context of global change, an acceleration of the biogenic dissolution weakening even more coral reef ecosystems.La dissolution biogénique des carbonates réalisée par les microperforants constitue une des principales forces de destruction des récifs coralliens. Ce processus, stimulé par certains facteurs du changement global comme l’acidification, est encore peu connu et donc mal intégré dans les modèles de prédiction du devenir des récifs. Pour mieux comprendre ce processus et sa dynamique temporelle, des blocs de squelette corallien ont été exposés, sur un récif en Nouvelle-Calédonie, aux microperforants entre 1 et 12 mois et au cours de six séries temporelles ; trois commençant en été et trois en hiver. Ainsi, les taux de dissolution biogénique ainsi que la diversité et l’abondance des microperforants ont été déterminés. En parallèle, un suivi de paramètres externes, abiotiques et biotiques, a été réalisé. Cette étude a mis en avant i/ trois étapes dans le processus de dissolution biogénique, décrites par un modèle logistique de croissance, contrôlées par les espèces microperforantes et par l’intensité du broutage ; ii/ les interactions entre les paramètres externes et la dynamique des successions de communautés microperforantes décrites dans un modèle conceptuel ; iii/ l’influence de paramètres externes sur la dynamique temporelle de la dissolution biogénique. Ainsi, Ostreobium quekettii, l’agent le plus actif dans la dissolution biogénique, est recruté plus rapidement et la dissolution biogénique augmente lorsque les squelettes sont exposés à des températures plus élevées ou soumis à une augmentation des nutriments. Ces résultats suggéreraient, dans le contexte du changement global, une accélération de la dissolution biogénique fragilisant d’autant plus les récifs coralliens

Successions of Microbioeroding Communities over a Year Period with a Monthly Resolution : Impact on Biogenic Dissolution in Dead Corals (New Caledonia) - Poster

AGU-Ocean Science Meeting. Feb. 2014. Hawaii