DETRESSE RESPIRATOIRE PROGRESSIVE CHEZ UN NOURRISSON PRESENTANT UN SYNDROME DU CIMETERRE

Nous décrivons une patiente, née prématurément à 31 SA, adressée à 1 mois de vie au centre de référence des maladies respiratoires rares (RespiRare) pour exploration d'une hypoplasie pulmonaire droite associée à une dextroposition cardiaque (Figure 1, image A)

3D-Printing to Plan Complex Transcatheter Paravalvular Leaks Closure

International audienceBackground: Percutaneous closure of paravalvular leak (PVL) has emerged as an alternative to surgical management in selected cases. Achieving complete PVL occlusion, while respecting prosthesis function remains challenging. A multimodal imaging analysis of PVL morphology before and during the procedure is mandatory to select an appropriate device. We aim to explore the additional value of 3D printing in predicting device related adverse events including mechanical valve leaflet blockade, risk of device embolization and residual shunting.Methods: From the FFPP registries (NCT05089136 and NCT05117359), we included 11 transcatheter PVL closure procedures from three centers for which 3D printed models were produced. Cardiac CT was used for segmentation for 3D printed models (3D-heartmodeling, Caissargues, France). Technology used a laser to fuse very fine powders (TPU Thermoplastic polyurethane) into a final part-laser sintering technology (SLS) with an adapted elasticity. A simulation on 3D printed model was performed using a set of occluders.Results: PVLs were located around aortic prostheses in six cases, mitral prostheses in four cases and tricuspid ring in one case. The device chosen during the simulation on the 3D printed model matched the one implanted in eight cases. In the three other cases, a similar device type was chosen during the procedures but with a different size. A risk of prosthesis leaflet blockade was identified on 3D printed models in four cases. During the procedure, the occluder was removed before release in one case. In another case the device was successfully repositioned and released. In two patients, leaflet impingement was observed post-operatively and surgical device removal had to be performed.Conclusion: In a case-series of complex transcatheter PVL closure procedures, hands-on simulation testing on 3D printed models proved its usefulness to plan and facilitate these challenging procedures

Est-il possible d'estimer précisément la richesse spécifique de grands quadrats? Cas d'étude sur des données de calibration entre observateurs

International audienceThe number of species (species richness) is certainly the most widely used descriptor of plant diversity. However, estimating richness is a difficult task because plant censuses are prone to overlooking and identification errors that may lead to spurious interpretations. We used calibration data from the French ICP-level II plots (RENECOFOR) to assess the magnitude of the two kinds of errors in large forest plots. Eleven teams of professional botanists recorded all plants on the same eight 100-m2 plots in 2004 (four plots, eights teams) and 2005 (four plots, nine teams including six from 2004), first independently and then consensually. On average, 15.5% of the shrubs and trees above 2 m were overlooked and 2.3% not identified at the species level or misidentified. On average, 19.2% of the plant species below 2 m in height were overlooked and 5.3% were misidentified and 1.3% were misidentified at the genus level (especially bryophytes). The overlooking rate also varied with plant species, morphological type, plot and team. It was higher when only one botanist made the census. It rapidly decreased with species cover and increased with plot species richness, the recording time of the census in the tree layer and the number of the censuses carried out during the day in the ground layer. Familiarity of the team with the local flora reduced the risk of overlooking and identification errors, whereas training had little impact. Differences in species richness (over space or time) in large plots should be cautiously interpreted, especially when several botanists participate in the survey. In particular, the quality of the data needs to be evaluated using calibration training and, if necessary, may be improved by involving more experienced botanists working in teams and by fixing a minimum recording time

Independent component analysis uncovers the landscape of the bladder tumor transcriptome and reveals insights into luminal and basal subtypes

Extracting relevant information from large-scale data offers unprecedented opportunities in cancerology. We applied independent component analysis (ICA) to bladder cancer transcriptome data sets and interpreted the components using gene enrichment analysis and tumor-associated molecular, clinicopathological, and processing information. We identified components associated with biological processes of tumor cells or the tumor microenvironment, and other components revealed technical biases. Applying ICA to nine cancer types identified cancer-shared and bladder-cancer-specific components. We characterized the luminal and basal-like subtypes of muscle-invasive bladder cancers according to the components identified. The study of the urothelial differentiation component, specific to the luminal subtypes, showed that a molecular urothelial differentiation program was maintained even in those luminal tumors that had lost morphological differentiation. Study of the genomic alterations associated with this component coupled with functional studies revealed a protumorigenic role for PPARG in luminal tumors. Our results support the inclusion of ICA in the exploitation of multiscale data sets.This work is part of the “Cartes d’Identité des Tumeurs” (CIT) program funded and developed by the “Ligue Nationale contre le Cancer” (LNCC) (http://cit.ligue-cancer.net). We thank E. Voirin, N. Servant, G. Lucotte, and P. Hupé for their help with bioinformatics data management and analysis. We thank members of the bladder cancer CIT consortium (P. Maillé and D. Vordos, Henri Mondor Hospital; M. Sibony, Cochin Hospital; A. Laplanche, IGR, INSERM; Y. Denoux and V. Molinié, Foch Hospital; E. Letouzé, LNCC) for their constant support. This work was supported by the LNCC (to “Oncologie Moléculaire” and “Computational Systems Biology of Cancer” accredited teams), the Institut Curie (to F.R., E.B., A.Z.), the “Centre National de la Recherche Scientifique” (CNRS) (to F.R.), the “Institut National de la Santé et de la Recherche Médicale” (INSERM) (to E.B., A.Z., S.B., and Y.A.), the INCa (INCa_2960 and 4382 to F.R. and Y.A.), ITMO cancer, systems biology program (to A.Z., E.B., and F.R.), the Labex (no. ANR-10-LBX-0038) part of the IDEX PSL (no. ANR-10-IDEX-0001-02 PSL) (to F.R.), and York Against Cancer (to J.S.). A.B. was supported by a grant from the INCa, from the LNCC, and by NIH grant 5U24 CA143799-04 as part of TCGA project, Y.L. by a grant from the “Fondation Franco-Chinoise pour la Science et ses Applications” (FFCSA), Y.N. by a grant from the “Fondation ARC pour la recherche sur le cancer,” and A.K. by a grant from the LNC

Can we reliably estimate species richness with large plots ? an assessment through calibration training.

The number of species (species richness) is certainly the most widely used descriptor of plant diversity. However, estimating richness is a difficult task because plant censuses are prone to overlooking and identification errors that may lead to spurious interpretations. We used calibration data from the French ICP-level II plots (RENECOFOR) to assess the magnitude of the two kinds of errors in large forest plots. Eleven teams of professional botanists recorded all plants on the same eight 100-m2 plots in 2004 (four plots, eights teams) and 2005 (four plots, nine teams including six from 2004), first independently and then consensually. On average, 15.5% of the shrubs and trees above 2 m were overlooked and 2.3% not identified at the species level or misidentified. On average, 19.2% of the plant species below 2 m in height were overlooked and 5.3% were misidentified and 1.3% were misidentified at the genus level (especially bryophytes). The overlooking rate also varied with plant species, morphological type, plot and team. It was higher when only one botanist made the census. It rapidly decreased with species cover and increased with plot species richness, the recording time of the census in the tree layer and the number of the censuses carried out during the day in the ground layer. Familiarity of the team with the local flora reduced the risk of overlooking and identification errors, whereas training had little impact. Differences in species richness (over space or time) in large plots should be cautiously interpreted, especially when several botanists participate in the survey. In particular, the quality of the data needs to be evaluated using calibration training and, if necessary, may be improved by involving more experienced botanists working in teams and by fixing a minimum recording time

Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia

Moyamoya is a cerebrovascular condition characterized by a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and the compensatory development of abnormal "moyamoya" vessels. The pathophysiological mechanisms of this condition, which leads to ischemic and hemorrhagic stroke, remain unknown. It can occur as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes). Here, we describe an autosomal-recessive disease leading to severe moyamoya and early-onset achalasia in three unrelated families. This syndrome is associated in all three families with homozygous mutations in GUCY1A3, which encodes the alpha 1 subunit of soluble guanylate cyclase (sGC), the major receptor for nitric oxide (NO). Platelet analysis showed a complete loss of the soluble alpha 1 beta 1 guanylate cyclase and showed an unexpected stimulatory role of sGC within platelets. The NO-sGC-cGMP pathway is a major pathway controlling vascular smooth-muscle relaxation, vascular tone, and vascular remodeling. Our data suggest that alterations of this pathway might lead to an abnormal vascular-remodeling process in sensitive vascular areas such as ICA bifurcations. These data provide treatment options for affected individuals and strongly suggest that investigation of GUCY1A3 and other members of the NO-sGC-cGMP pathway is warranted in both isolated early-onset achalasia and non-syndromic moyamoya