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Dans les débats sur la situation des religions en Europe, la pensée de Jürgen Habermas reste incontournable. Depuis le choc de 11 septembre 2001, celle-ci a largement évolué pour accorder une place plus grande aux demandes de reconnaissance des religions dans l’espace public. Pour autant, l’éthique de la discussion doit aujourd’hui être interrogée à nouveaux frais face aux recrudescences des fondamentalismes religieux et laïcistes.

Purpose Suspended sediment transport, which represents the majority of the sediment load, has been studied across very different scales and in a wide variety of regions and climates. Despite numerous studies, data for European watersheds are generally limited and correspond to large rivers systems. Especially, in Belgium, little data is available outside the Belgian loess belt. Moreover, the high heterogeneity of soil erosion and sediment transport makes it difficult to measure or model at watershed scale. The purpose of this research is to estimate the median sediment yields in different geographical regions and to detect their explanatory variables. Materials and methods Gathering data from 1994 to 2016, more than 2000 measurements of suspended sediment concentration at 72 river stations mainly located in South-Belgium were sampled according to a flood-event-based manual methodology. This allowed fast acquisition of data in watersheds ranging from 7 to 3600 km2 in different geographical regions. Median area-specific sediment yields (SSY) were calculated at watershed scale while looking for regional differences. Results and discussion Median area-specific sediment yields computed for the period 1996–2018 show regional differences: 19.2 t km−2 year−1 on sandy substrate (Lorraine), 24.9 t km−2 year−1 on schisto-sandstone substratum (Ardenne), and up to 119 t km−2 year−1 in the loamy Brabant plateau, with a link to the agricultural land cover and, to a lesser extent, to the watershed slope. The high temporal and spatial variability of rainfall has great effects on the SSY, necessitating the gathering of more than 20 years of data to smooth the high variability of SSY. A multiple correlation of land cover variables and the average slope of the watershed with SSY managed to explain 48% of the variance within the SSY observations. Conclusions The agricultural land cover has an important effect on median SSY values. While the regionalization of Belgium is largely based on lithology, soils, and altitude, the land use resulting from these physical and climatic characteristics explains the differences in SSY. Field values of clogged dams and waterways confirm the matching of the SSY computation from discrete samples, despite the high temporal variability of sediment transport.

Individualized treatment rules (ITRs) are deterministic decision rules that recommend treatments to individuals based on their characteristics. Though ubiquitous in medicine, ITRs are hardly ever evaluated in randomized controlled trials. To evaluate ITRs from observational data, we introduce a new probabilistic model and distinguish two situations: i) the situation of a newly developed ITR, where data are from a population where no patient implements the ITR, and ii) the situation of a partially implemented ITR, where data are from a population where the ITR is implemented in some unidentified patients. In the former situation, we propose a procedure to explore the impact of an ITR under various implementation schemes. In the latter situation, on top of the fundamental problem of causal inference, we need to handle an additional latent variable denoting implementation. To evaluate ITRs in this situation, we propose an estimation procedure that relies on an expectation-maximization algorithm. In Monte Carlo simulations our estimators appear unbiased and consistent while confidence intervals achieve nominal coverage. We illustrate our approach on the MIMIC-III database, focusing on ITRs for initiation of renal replacement therapy in patients with acute kidney injury.

Significant hydrological and morphological changes occur with the construction of hydropower plants. The main modifications are related to changes in the hydrological regime and disturbances of the sediment continuity.This study is based on the Warche River in the northern Ardennes (Belgium), on a 7 km stretch downstream of the Bütgenbach dam built in 1932. During the winter months, the hydroelectric power plants release a flow of 10m³/s almost every day, which corresponds to the morphogenic flow (0.6 bankfull discharge).A study carried out in the 1990s (Assani and Petit, 1997) showed that, following the construction of the Bütgenbach dam, a general incision of the entire 7 km stretch took place in about 30 years, followed by a doubling of the channel width. Other changes such as a reduction in the number of riffles and pools, an increase in the number of gravel banks and islands and an increase in rock outcrops in the channel have also taken place.In our study, the question is to quantify the rate of propagation of this incision. For this purpose, RFID tags implanted in pebbles were used. As the morphogenic discharge is reached almost daily, surveys were conducted directly in the days following the deployment of the PIT tags. In a second step, more spaced surveys were also carried out according to the hydrological events.A second part of our study consists of analysing the morphological evolution since the 1990s by comparing past surveys with the topographic data of 2022. Thanks to these data, we can observe whether a new morphological equilibrium has been reached or whether the canal continues to widen.

This research has two objectives: (I) to improve the methodology of using small-sized iron slag (microslag) as a stratigraphic marker to reconstruct the centennial-scale floodplain evolution and (II) to study the geomorphic evolution of the Ardennian rivers using the evaluation of the concentration of microslag in alluvia. In addition, 14C dating, topographic surveys and sedimentological analysis were carried out. Using these data, floodplain processes have been quantified in several Belgian rivers (Ardennes massif): fine floodplain sedimentation, lateral mobility rates and channel incision phases. A major hillslope erosion episode occurred during the Bronze Age. Archaeological data and historical sources indicate Roman and High Middle Age occupations in the area but no evidence of erosion or increased floodplain sedimentation have been observed. Several peat layers have been dated in the Chavanne floodplain to approximately 1000 BP and probably indicate very low anthropogenic activity and a high level of groundwater. Before 1000 CE, the fluvial style of the Ardennian rivers was probably different, characterized by a low-level forested floodplain, which explains the presence of frequent peat layers within the alluvial sequences and abandoned channels. From the eleventh century onwards, a generalized increase in sedimentation rates occurred, coinciding with a higher concentration of charcoal in the alluvium and also the formation of colluvial deposits. Analyses of slag concentrations allowed us to reconstruct the evolution of the floodplain topography. In Ardennian rivers, the mean floodplain aggradation over the last several centuries is between 3 and 20 cm/century, depending on the study site. Such differences in floodplain sedimentation rates can be explained by several factors such as the distance to past cultivation areas, the degree of woodland clearance, flow velocities during floods and the incision of the riverbed during last centuries, which reduces the frequency of inundation and, therefore, sedimentation on floodplains.

Permanent aesthetic augmentation of the gluteal region can be achieved with fat graft and/or implants. Implant-based augmentations have been proposed since the late 1960s. Buttock implants can be placed in four different planes according to distinct surgical techniques: subcutaneous, subfascial, intramuscular, and submuscular.In this retrospective analysis, a 100 case series of patients seeking volume and shape amelioration of the gluteal region were studied. All of them had primary gluteoplasty performed with a submuscular implant placement by first author (F.P.) with a new technique, as described in the article.Data on surgery time, implant volume selection, and postoperative complications were collected. The most frequent complications were delayed healing of the incision and implant flipping.Submuscular implant positioning is a safe and reliable technique for buttock augmentation with implants. Whatever the implant volume, submuscular gluteal augmentation carries the benefit of perfectly covering, protecting, and hiding the implant, making it almost impalpable and invisible.Therapeutic, IV.

Metabolic myopathies are muscle disorders caused by a biochemical defect of the skeletal muscle energy system resulting in exercise intolerance. The primary aim of this research was to evaluate the oxygen cost (∆V’O2/∆Work-Rate) during incremental exercise in patients with metabolic myopathies as compared with patients with non-metabolic myalgia and healthy subjects. The study groups consisted of eight patients with muscle glycogenoses (one Tarui and seven McArdle diseases), seven patients with a complete and twenty-two patients with a partial myoadenylate deaminase (MAD) deficiency in muscle biopsy, five patients with a respiratory chain deficiency, seventy-three patients with exercise intolerance and normal muscle biopsy (non-metabolic myalgia), and twenty-eight healthy controls. The subjects underwent a cardiopulmonary exercise test (CPX Medgraphics) performed on a bicycle ergometer. Pulmonary V’O2 was measured breath-by-breath throughout the incremental test. The ∆V’O2/∆Work-Rate slope for exercise was determined by linear regression analysis. Lower oxygen consumption (peak percent of predicted, mean ± SD; p 2/∆Work-Rate slope (mLO2.min−1.W−1) was increased in patients with MAD absent (12.6 ± 1.5), MAD decreased (11.3 ± 1.1), glycogenoses (14.0 ± 2.5), respiratory chain defects (13.1 ± 1.2), and patients with non-metabolic myalgia (11.3 ± 1.3) compared with control subjects (10.2 ± 0.7; p 2 consumption during daily life-submaximal exercises.

Cet article analyse la pratique de la recherche-intervention (RI) en Gestion. Notre terrain repose sur l’étude de deux RI basées sur la mise en oeuvre, selon l’ISO 26000, de démarches de Responsabilité Sociétale de l’Entreprise. Nous proposons une grille d’analyse des mécanismes interactifs (vecteurs) et cognitifs (produits) de la fertilisation en RI, à destination des chercheurs et des gestionnaires. Celle-ci nous permet de proposer une typologie des prototypes de fertilisation de la RI, afin d’aider au pilotage de projets futurs, en favorisant la fertilisation croisée, identifiée comme critère de succès d’une RI., This article analyzes the practice of intervention-research (IR) in Management. Our field is about the study of two IR based on the implementation of Corporate Social Responsibility approaches, according to ISO 26000. We propose an analysis grid of the interactive (vectors) and cognitive (outputs) mechanisms of fertilization in IR, for researchers and managers. This allows us to propose a fertilization prototypes typology of IR, in order to help the driving of future projects, by supporting cross-fertilization, identified as a criterion of success of IR., Este artículo analiza la práctica de la Investigación-Intervención (I-I) en la gestión. Nuestro campo se basa en el estudio de dos casos I-I basados en la implantación, según la norma ISO 26000, de enfoques de Responsabilidad Social Corporativa. Proponemos una tabla de análisis de los mecanismos interactivos (vectores) y cognitivos (productos) de la fertilización en II, para investigadores y gestores. Esto nos permite proponer una tipología de los prototipos de fertilización de un I-I, con el fin de ayudar al pilotaje de futuros proyectos, apoyando la fertilización cruzada, identificada como criterio de éxito de un I-I.

Le 28 février 2021, l’archevêque de Paris, Mgr Michel Aupetit, décidait soudainement de mettre fin au Centre pastoral St Merry (CPSM), plus connu sous le nom de Centre Pastoral Les Halles-Beaubourg. Créé en 1975 en plein cœur de Paris par un évêque courageux, Mgr Marty, il avait été confié à un prêtre audacieux, Xavier de Chalendar, qui sut d’entrée de jeu s’entourer de laïcs compétents et formés théologiquement (Warnier, 1991).

Metabolic myopathies comprise a diverse group of inborn errors of intermediary metabolism affecting skeletal muscle, and often present clinically as an inability to perform normal exercise. Our aim was to use the maximal mechanical performances achieved during two functional tests, isometric handgrip test and cycloergometer, to identify metabolic myopathies among patients consulting for exercise-induced myalgia. Eighty-three patients with exercise-induced myalgia and intolerance were evaluated, with twenty-three of them having a metabolic myopathy (McArdle, n = 9; complete myoadenylate deaminase deficiency, n = 10; respiratory chain deficiency, n = 4) and sixty patients with non-metabolic myalgia. In all patients, maximal power (MP) was determined during a progressive exercise test on a cycloergometer and maximal voluntary contraction force (MVC) was assessed using a handgrip dynamometer. The ratio between percent-predicted values for MVC and MP was calculated for each subject (MVC%pred:MP%pred ratio). In patients with metabolic myopathy, the MVC%pred:MP%pred ratio was significantly higher compared to non-metabolic myalgia (1.54 ± 0.62 vs. 0.92 ± 0.25; p

espanolEl filosofo y especialista en estudios latinoamericanos Alfredo Gomez Muller desarrollo, entre Francia y Colombia, una obra singular para abordar el encuentro entre dos mundos. A traves de diversos reajustes teoricos y practicos, su “universalismo de la coexistencia dialogica” implica, sobre todo, la preocupacion por una justicia cultural que se perfecciona constantemente. Inspirada en Aristoteles, Sartre y Marx, aquella impide cualquier forma de aislamiento bajo un, supuestamente inevitable, “choque de civilizaciones”. EnglishThe philosopher and Latin American studies specialist Alfredo Gomez-Muller developed, between France and Colombia, a singular work with which to think the encounter between two worlds. Above all else, his “universalism of dialogic coexistence” entails, through diverse theoretic and practical reworkings, a concern for a cultural justice that is under continuous refinement. Inspired in Aristotle, Sartre, and Marx, such a justice precludes any type of seclusion under a supposedly inevitable “clash of civilizations”. francaisPhilosophe et specialiste de l’Amerique Latine, Alfredo Gomez-Muller a developpe entre France et Colombie une œuvre singuliere pour penser la rencontre entre deux mondes. Son « universalisme de la coexistence dialogique » porte singulierement, a travers divers remaniements theoriques et pratiques, le souci d’une justice culturelle sans cesse affinee. Inspiree par Aristote, Sartre et Marx, elle dejoue tout enfermement dans un suppose inevitable « choc des civilisations ».

IF 2.004 (2018); International audience; 15q24 microdeletion and microduplication syndromes are genetic disorders caused by non-allelic homologous recombination between low-copy repeats (LCRs) in the 15q24 chromosome region. Individuals with 15q24 microdeletion and microduplication syndromes share a common 1.2 Mb critical interval, spanning from LCR15q24B to LCR15q24C. Patients with 15q24 microdeletion syndrome exhibit distinct dysmorphic features, microcephaly, variable developmental delay, multiples congenital anomalies while individuals with reciprocal 15q24 microduplication syndrome show mild developmental delay, facial dysmorphism associated with skeletal and genital abnormalities. We report the first case of a 10 year-old girl presenting mild developmental delay, psychomotor retardation, epilepsy, ventricular arrhythmia, overweight and idiopathic central precocious puberty. 180K array-CGH analysis identified a 1.38 Mb heterozygous interstitial 15q24.1 BP4-BP1 microdeletion including HCN4 combined with a concomitant 2.6 Mb heterozygous distal 15q24.2q24.3 microduplication. FISH analysis showed that both deletion and duplication occurred de novo in the proband. Of note, both copy number imbalances did not involve the 1.2 Mb minimal deletion/duplication critical interval of the 15q24.1q24.2 chromosome region (74.3-75.5 Mb). Sequencing of candidate genes for epilepsy and obesity showed that the proband was hemizygous for paternal A-at risk allele of BBS4 rs7178130 and NPTN rs7171755 predisposing to obesity, epilepsy and intellectual deficits. Our study highlights the complex interaction of functional polymorphisms and/or genetic variants leading to variable clinical manifestations in patients with submicroscopic chromosomal aberrations.

Proximal 19p13.12 microdeletion has been rarely reported. Only five postnatal cases with intellectual disability, facial dysmorphism, branchial arch defects and overlapping deletions involving proximal 19p13.12 have been documented. Two critical intervals were previously defined: a 700 kb for branchial arch defects and a 350 kb for hypertrichosis-synophrys-protruding front teeth. We describe the first prenatal case, a fetal death in utero at 39 weeks of gestation. Agilent 180K array-CGH analysis identified a heterozygous interstitial 745 kb deletion at 19p13.12 chromosome region, encompassing both previously reported critical intervals, including at least 6 functionally relevant genes: NOTCH3, SYDE1, AKAP8, AKAP8L, WIZ and BRD4. Quantitative PCR showed that the deletion occurred de novo with a median size of 753 kb. NOTCH3 and SYDE1 were candidate genes for placental pathology whilst AKAP8, AKAP8L, WIZ and BRD4 were highly expressed in the branchial arches. Molecular characterization and sequencing of candidate genes for placental pathology and branchial arch defects were carried out in order to correlate the genotype-phenotype relationship and unravel the underlying mechanism of proximal 19p13.12 microdeletion syndrome. This case also contributes to define the novel critical interval and expand the clinical phenotype spectrum of proximal 19p13.12 microdeletion syndrome.

As exercise intolerance and exercise-induced myalgia are commonly encountered in metabolic myopathies, functional screening tests are commonly used during the diagnostic work-up. Our objective was to evaluate the accuracy of isometric handgrip test (IHT) and progressive cycle ergometer test (PCET) to identify McArdle disease and myoadenylate deaminase (MAD) deficiency and to propose diagnostic algorithms using exercise-induced lactate and ammonia variations.A prospective sample of 46 patients underwent an IHT and a PCET as part of their exercise-induced myalgia and intolerance evaluation. The two diagnostics tests were compared against the results of muscle biopsy and/or the presence of mutations in PYGM. A total of 6 patients had McArdle disease, 5 a complete MAD deficiency (MAD absent), 12 a partial MAD deficiency, and 23 patients had normal muscle biopsy and acylcarnitine profile (disease control).The two functional tests could diagnose all McArdle patients with statistical significance, combining a low lactate variation (IHT:1 mmol/L, AUC = 0.963, P .0001; PCET:1 mmol/L, AUC = 0.990, P .0001) and a large ammonia variation (IHT:100 μmol/L, AUC = 0.944, P = .0005; PCET:20 μmol/L, AUC = 1). PCET was superior to IHT for MAD absent diagnosis, combining very low ammonia variation (10 μmol/L, AUC = 0.910, P .0001) and moderate lactate variation (1 mmol/L).PCET-based decision tree was more accurate than IHT, with respective generalized squared correlations of 0.796 vs 0.668. IHT and PCET are both interesting diagnostic tools to identify McArdle disease, whereas cycle ergometer exercise is more efficient to diagnose complete MAD deficiency.

Introduction In this study we evaluated the role of an electrodiagnostic provocative test (long exercise test) in McArdle disease. Methods Twenty-five McArdle patients and 2 control groups underwent an electrodiagnostic protocol with long exercise test (LET), consisting of recording the compound muscle action potential (CMAP) before and after 5 minutes of isometric contraction. Results The LET disclosed a postexercise decrease in CMAP amplitude in 23 of 25 McArdle patients. The immediate and long-lasting decrease differentiated McArdle patients from controls. Patients with a normal LET demonstrated milder symptoms and/or residual myophosphorylase activity. Discussion The LET is a sensitive, safe, and noninvasive provocative test that may guide clinicians toward molecular analysis of the myophosphorylase gene. The abnormalities observed on LET point toward complex biochemical mechanisms determined by the absence of myophosphorylase, beyond simple glycolytic blockade (ionic pump dysfunction, sarcolemmal inexcitability). The normal LET in patients with milder symptoms indicates a relationship of the LET with clinical severity, thus identifying it as a potential outcome measure. Muscle Nerve, 2018.

Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by mutations in the AGL gene coding for the glycogen debranching enzyme. Current therapy is based on dietary adaptations but new preclinical therapies are emerging. The identification of outcome measures which are sensitive to disease progression becomes critical to assess the efficacy of new treatments in upcoming clinical trials. In order to prepare future longitudinal studies or therapeutic trials with large cohorts, information about disease progression is required. In this study we present preliminary longitudinal data of Motor Function Measure (MFM), timed tests, Purdue pegboard test, and handgrip strength collected over 5 to 9years of follow-up in 13 patients with GSDIII aged between 13 and 56years old. Follow-up for nine of the 13 patients was up to 9years. Similarly to our previous cross-sectional retrospective study, handgrip strength significantly decreased with age in patients older than 37years. MFM scores started to decline after the age of 35. The Purdue pegboard score also significantly reduced with increasing age (from 13years of age) but with large inter-visit variations. The time to stand up from a chair or to climb 4 stairs increased dramatically in some but not all patients older than 30years old. In conclusion, this preliminary longitudinal study suggests that MFM and handgrip strength are the most sensitive muscle function outcome measures in GSDIII patients from the end of their third decade. Sensitive muscle outcome measures remain to be identified in younger GSDIII patients but is challenging as muscle symptoms remain discrete and often present as accumulated fatigue.

Restoring in-stream spawning habitats in degraded rivers has received increasing attention as a tool for mitigating local wild fish population declines, notably in response to the European Water Framework Directive (WFD). However, spawning gravel placements are far too often designed without accurate knowledge of the morphodynamic river processes, resulting in a limited efficacy and longevity of the artificial spawning ground. To address the combined effects of bedload transport and fine sediment clogging processes on the sustainability of artificial spawning gravel habitats, we examined the effects of such rehabilitation actions on six degraded river reaches in Wallonia, Belgium. The monitoring scheme was based on the evolution of the thickness and clogging of the spawning gravel (using wooden stakes driven into the gravel layer to measure the depth of the anoxia) and on the PIT-tagged tracking of gravel dispersion over a period of 3.6–8.5 yrs. On the one hand, the results highlighted that several artificial spawning grounds were quickly clogged because of improper sizing of the spawning material. Gravel that was too coarse to be mobilized by the river and that had a narrow grain size range favoured fine sediment accumulation within the interstices of the gravel layer. On the other hand, one spawning gravel placement was rapidly scoured (after 2.2 yrs) because of an undersizing of the gravel with respect to flow competence. In the end, one gravel placement presented adequate gravel sizing, allowing periodic gravel transport over short distances (the mean annual travel distance was ~3 m). The longevity of a gravel placement and the ability of the displaced gravel to form new spawning grounds downstream were strongly dependent on the distance that the placed gravel was likely to travel, which in turn depended on several hydromorphological parameters, such as unit stream power, channel morphology and bed texture. The key parameters highlighted in this study need to be acknowledged when designing spawning gravel placement projects.

Notre recherche vise a montrer que la RSE, abordee comme un projet, permettrait de « regenerer » le management strategique. Pour ce faire, nous analysons une demarche de deploiement de la RSE, selon l’ISO 26000, au prisme de la Project Based View. Par ce biais, nous montrons que cette demarche constitue un projet qui fait evoluer les structures de l’organisation en elargissant leur objet a des enjeux societaux. Cette evolution est concomitante d’une strategie qui reprend alors sa pleine dimension en depassant, progressivement, l’horizon court-termiste impose par les marches. Ce travail d’operationnalisation de la RSE pour regenerer le management strategique s’appuie sur deux etudes de cas longitudinales. Elles sont issues de deux recherches-intervention menees pendant trois ans au sein d’un ETI de l’agro-alimentaire et d’un GIE issu de l’economie sociale.

La revolution de 1917 ne fait que renforcer l’interet de Berdiaev pour les questions liees a la constitution d’une philosophie consciente de la conflictualite, entre la personne et l’histoire. L’historique a ses yeux n’est pas qu’un simple phenomene offert a l’observation positiviste, il revele l’essence spirituelle de l’homme et du monde. Portee par l’utopie de realiser une grande œuvre dans l’histoire, la revolution russe en est venue a negliger ou carrement a ignorer le monde vivant. Un esprit de revolution se serait installe sans revolution de l’esprit.

This work traces the geomorphological and tectonic evolution of the southern coast of the Strait of Gibraltar at the MIS 5e during the last interglacial. Stratigraphic analysis of three marine terraces was achieved. The three studied sections show two transgression‑regression cycles. It appears that the lithology and structure of the geological substrate has played a fundamental role in coastal geomorphological evolution during the isotope sub‑stage 5e. This sub‑stage is characterized by two transgressive pulses of eustatic origin. The U/Th dating of a sample of coral shows that the second pulse has an age of at least 119.6 ± 2.3 ka. The maximum average uplift rate is estimated of 0.085 m m /year over the last 117 kyr for the referenced outcrop. The MIS 5e has been raised to a height of 13 to 16 m MSL. Cette étude concerne l'évolution géomorphologique et tectonique de la rive sud du détroit de Gibraltar au MIS 5e au cours du dernier interglaciaire. L'analyse stratigraphique de trois terrasses marines a été réalisée. On retrouve sur les trois coupes étudiées deux cycles de transgression‑régression. Il ressort que la lithologie et la structure du substratum géologique ont joué un rôle primordial dans l'évolution géomorphologique côtière au cours du sous‑stade isotopique 5e. Ce dernier est caractérisé par deux pulsations transgressives eustatiques. La datation U/Th d’un fragment de corail montre que la deuxième pulsation est âgée d'au moins 119,6 ± 2.3 ka. Le taux de soulèvement maximum moyen est estimé à 0,085 mm/an au cours des 117 ka pour les affleurements de référence. Les dépôts du MIS 5e ont ainsi été soulevés de 7 à 10 m et portés à une altitude de 13 à 16 m MSL.

International audience; Next-generation sequencing (NGS) gene-panel-based analyses constitute diagnosis strategies which are adapted to the genetic heterogeneity within the field of myopathies, including more than 200 implicated genes to date. Nonetheless, important inter-laboratory diversity of gene panels exists at national and international levels, complicating the exchange of data and the visibility of the diagnostic offers available for referring neurologists. To address this issue, we here describe the initiative of the genetic diagnosis section of the French National Network for Rare Neuromuscular Diseases (Filière Nationale des Maladies Rares Neuromusculaires, FILNEMUS), which led to set up a consensual nationwide diagnostic strategy among the nine French genetic diagnosis laboratories using NGS for myopathies. The strategy is based on the determination of 13 clinical and/or histological entry-diagnosis groups, and consists for each group either in a successive NGS analysis of a "core gene list" followed in case of a negative result by the analysis of an "exhaustive gene list", or in the NGS analysis of a "unique exhaustive gene list".

INTRODUCTION The main objective of this study was to describe muscle involvement on whole-body magnetic resonance imaging scans in adults at different stages of glycogen-storage disease type III (GSDIII). METHODS Fifteen patients, 16-59 years of age, were examined on a 3-T system. The examinations consisted of coronal and axial T1-weighted images or fat images with a Dixon technique, and were scored for 47 muscles using Mercuri's classification. Muscle changes consisted of internal bright signals of fatty replacement. RESULTS Distribution across muscles showed predominant signal alteration in the lower limbs and postural muscles. This finding is consistent with the overall clinical presentation of GSDIII and the results of heatmap scores. Review of the MRI scans provided new information regarding recurrent muscle changes, particularly in the soleus, gastrocnemius medial head, and thoracic extensor muscles. DISCUSSION Whole-body muscle imaging provides clinically relevant information regarding muscle involvement in GSDIII. A severity score may contribute to improved patient management. Muscle Nerve, 2019.

According to isotopic labeling experiments, most of the carbon used by truffle (Tuber sp.) fruiting bodies to develop underground is provided by host trees, suggesting that trees and truffles are physically connected. However, such physical link between trees and truffle fruiting bodies has never been observed. We discovered fruiting bodies of Tuber aestivum adhering to the walls of a belowground quarry and we took advantage of this unique situation to analyze the physical structure that supported these fruiting bodies in the open air. Observation of transversal sections of the attachment structure indicated that it was organized in ducts made of gleba-like tissue and connected to a network of hyphae traveling across soil particles. Only one mating type was detected by PCR in the gleba and in the attachment structure, suggesting that these two organs are from maternal origin, leaving open the question of the location of the opposite paternal mating type.

Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or liver GDE analysis, followed by AGL gene sequencing. The GSDIII mouse model recapitulate the clinical phenotype in humans, and a nearly full rescue of muscle function was observed in mice treated with the dual AAV vector expressing the GDE transgene. In order to characterize GSDIII muscle morphological spectrum and identify novel disease markers and pathways, we performed a large international multicentric morphological study on 30 muscle biopsies from GSDIII patients. Autophagy flux studies were performed in human muscle biopsies and muscles from GSDIII mice. The human muscle biopsies revealed a typical and constant vacuolar myopathy, characterized by multiple and variably sized vacuoles filled with PAS-positive material. Using electron microscopy, we confirmed the presence of large non-membrane bound sarcoplasmic deposits of normally structured glycogen as well as smaller rounded sac structures lined by a continuous double membrane containing only glycogen, corresponding to autophagosomes. A consistent SQSTM1/p62 decrease and beclin-1 increase in human muscle biopsies suggested an enhanced autophagy. Consistent with this, an increase in the lipidated form of LC3, LC3II was found in patients compared to controls. A decrease in SQSTM1/p62 was also found in the GSDIII mouse model. In conclusion, we characterized the morphological phenotype in GSDIII muscle and demonstrated dysfunctional autophagy in GSDIII human samples. These findings suggest that autophagic modulation combined with gene therapy might be considered as a novel treatment for GSDIII.