Effects of eight neuropsychiatric copy number variants on human brain structure

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions

Prévalence et qualité de prise en charge de la morbidité cardi-vasculaire des déments

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Le pyjadrap® (intérêt d'un système de couchage de sécurité innovant chez les patients déments avec troubles du comportement)

LILLE2-BU Santé-Recherche (593502101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

DECREASE OF THE “TOOL EFFECT” IN OLDER ADULTS: AN INSUFFICIENT UPDATING OF THE BODY-SCHEMA?

International audienc

The tool effect is lower in older adults with or without cognitive impairments than in young adults.

International audienceGrabbing a phone from a table or stepping over an obstacle on the ground are daily activities that require the brain to take account of both object and the body's parameters. Research has shown that a person's estimated maximum reach is temporarily overestimated after using a tool, even when the tool is no longer in hand. This tool effect reflects the high plasticity of the perceptual-motor system (e.g., body schema updating)-at least in young individuals. The objective of the present study was to determine whether the tool effect is smaller in older adults. Forty-four young adults, 37 older adults without cognitive impairment and 30 older adults with cognitive impairment took part in the experiment. The task consisted in visually estimating the ability to reach (using the index finger) a target positioned at different locations on a table, both before and after using a rake. We observed a strong after-effect of tool use in the young adults only. Conversely, a tool effect was similarly absent in the older adults without and with cognitive impairment. Moreover, even before the tool was used, the maximum reach was overestimated in each of the three groups, although the overestimation was greatest in the two groups of older adults. In summary, we showed that the tool effect, observed in young adults, was absent in older adults; this finding suggests that with advancing age, the perceptual-motor system is less able to adapt to novel sensorimotor contexts. This lack of adaptation might explain (at least in part) the overestimation of motor skills often reported in the elderly.Prendre un téléphone sur une table ou enjamber un obstacle au sol sont des activités quotidiennes qui nécessitent que le cerveau prenne en compte à la fois les paramètres de l'objet et du corps. Des recherches ont montré que la portée maximale estimée d'une personne est temporairement surestimée après avoir utilisé un outil, même lorsque l'outil n'est plus en main. Cet effet d'outil reflète la grande plasticité du système perceptivo-moteur (par exemple, mise à jour des schémas corporels) - du moins chez les jeunes individus. L'objectif de la présente étude était de déterminer si l'effet de l'outil est moindre chez les personnes âgées. Quarante-quatre jeunes adultes, 37 personnes âgées sans déficience cognitive et 30 personnes âgées avec déficience cognitive ont participé à l'expérience. La tâche consistait à estimer visuellement la capacité à atteindre (à l'aide de l'index) une cible positionnée à différents endroits sur une table, avant et après l'utilisation d'un râteau. Nous avons observé un effet important de l’utilisation précédente du râteau uniquement chez les jeunes adultes. À l’inverse, l’effet de l'outil était absent chez les personnes âgées sans et avec déficience cognitive. De plus, même avant l’utilisation de l’outil, la portée maximale était surestimée dans chacun des trois groupes, même si la surestimation était plus importante dans les deux groupes de personnes âgées. En résumé, nous avons montré que l’effet outil, observé chez les jeunes adultes, était absent chez les personnes âgées ; cette découverte suggère qu'avec l'âge, le système perceptivo-moteur est moins capable de s'adapter à de nouveaux contextes sensorimoteurs. Ce manque d'adaptation pourrait expliquer (au moins en partie) la surestimation des capacités motrices souvent rapportée chez les personnes âgées

Assessment of Lymph Nodes and Prostate Status Using Early Dynamic Curves with (18)F-Choline PET/CT in Prostate Cancer

International audienceIntroduction: Dynamic image acquisition with 18 F-Choline [fluorocholine (FCH)] PET/CT in prostate cancer is mostly used to overcome the bladder repletion, which could obstruct the loco-regional analysis. The aim of our study was to analyze early dynamic FCH acquisitions to define pelvic lymph node or prostate pathological status.Material and methods: Retrospective analysis was performed on 39 patients for initial staging (n = 18), or after initial treatment (n = 21). Patients underwent 10-min dynamic acquisitions centered on the pelvis, after injection of 3–4 MBq/kg of FCH. Whole-body images were acquired about 1 h after injection using a PET/CT GE Discovery LS (GELS) or Siemens Biograph mCT (mCT). Maximum and mean SUV according to time were measured on nodal and prostatic lesions. SUV mean was corrected for partial volume effect (PVEC) with suitable recovery coefficients. The status of each lesion was based on histological results or patient follow-up (>6 months). A Mann–Whitney test and ANOVA were used to compare mean and receiver operating characteristic (ROC) curve analysis.Results: The median PSA was 8.46 ng/mL and the median Gleason score was 3 + 4. Ninety-two lesions (43 lymph nodes and 49 prostate lesions) were analyzed, including 63 malignant lesions. In early dynamic acquisitions, the maximum and mean SUV were significantly higher, respectively, on mCT and GELS , in malignant versus benign lesions (p < 0.001, p < 0.001). Mean SUV without PVEC, allowed better discrimination of benign from malignant lesions, in comparison with maximum and mean SUV (with PVEC), for both early and late acquisitions. For patients acquired on mCT, area under the ROC curve showed a trend to better sensitivity and specificity for early acquisitions, compared with late acquisitions (SUVmax AUC 0.92 versus 0.85, respectively).Conclusion: Assessment of lymph nodes and prostate pathological status with early dynamic imaging using PET/CT FCH allowed prostate cancer detection in situations where proof of malignancy is difficult to obtain

Molecular evidence for a critical period in mural trophoblast development in bovine blastocysts

International audienceEmbryonic and extra-embryonic lineages are separated at the blastocyst stage in the mouse at the onset of implantation but well ahead of implantation in most mammals. To provide information on the development of the trophoblast lineage in late-implanting bovine embryos, we combined the use of molecular markers defining embryonic and extra-embryonic lineages in the mouse with a transcriptomic approach dedicated to the early steps of the elongation process, a characteristic feature of blastocyst development in ruminants. In this study, we present molecular evidence for differences between the cow and the mouse in the programming of trophoblast differentiation. This different programming encompasses: (i) the expression of epiblast specifying genes (Oct-4, Nanog) in bovine trophoblast cells at the onset of elongation, (ii) the transcription of proliferation markers in early elongating blastocysts, (iii) the early detection of trophoblast-specific transcripts related to extra-embryonic tissue's differentiation (Hand1, Ets2, IFN-tau) and (iv) the identification of a new transcript (c12) which displays a reciprocal pattern to that of Oct-4 and Nanog genes in the embryonic cells and for which no equivalent has thus far been found in the mouse. Altogether, these results tended to show that early elongation is a critical transition in bovine trophoblast development.

Exclusive ambulatory management of spontaneous pneumothorax with pigtail catheters, a prospective multicentric study

International audienceObjective: Spontaneous pneumothorax occurs most frequently in young active patients. Published guidelines do not all agree about its initial management; most patients are hospitalised and treated with chest tube. This prospective multicentric cohort study was designed to assess the potential of ambulatory management.Methods: We included all consecutive patients with large spontaneous primary (PSP) and secondary pneumothoraces (SSP) presenting at the Lorient, Vitré and Rennes hospitals between December 2013 and July 2016. They were treated with a small-bore pigtail catheter and one-way valve and managed as outpatients following a specific protocol. When this failed, patients were hospitalised on day 4 for suction and surgical pleurodesis was envisaged on day 6. Patients were followed-up for one-year to assess relapse.Results: Of the 148 patients included (129 PSP, 19 SSP), 122 (82⋅4%) were managed exclusively as outpatient with success in 84⋅5% of PSP and 68⋅4% of SSP patients. There were few complications: 13 vaso-vagal episodes and 3 minor bleedings. The one-year recurrence rates were 33⋅1% for PSP and 52⋅6% for SSP (p = 0⋅114 Hazard Ratio = 0⋅538; IC95% [0⋅249-1⋅161]).Conclusion: These results are consistent with our previous study and confirm that this exclusive ambulatory management of spontaneous pneumothoraces can be successfully implemented in new centres with a high success rate and few complications