Performances et comportements dans des loges de mise bas avec truies en liberté adaptées à l’élevage biologique

Afin d'améliorer le bien-être animal, le logement en libre parcours est introduit dans de nombreux pays européens. L'objectif de cette étude, qui a débuté en juin 2019 et se poursuit, était d'évaluer les performances et le comportement des truies et des porcelets dans des enclos de libre parcours biologiques (WelCon bio, Schauer®) en Wallonie. La porcherie biologique, composée de huit cases de mise bas et de deux cases de libre parcours, compte une vingtaine de truies du croisement Duroc × Landrace. Les truies étaient élevées sur un sol solide et une litière de paille. Les performances de 113 truies au total (91 dans les cases de mise bas (C) et 22 dans les cases de stabulation libre (L)) ont été évaluées. Pour étudier le comportement, 15 truies L ont été filmées 24 heures sur 24, de la veille de la mise bas au 5e jour après la mise bas. Parmi les truies L, le comportement a été comparé entre les truies Lf (dans des cases où la température extérieure autour de la mise bas était inférieure à la moyenne (12,3 ± 5,3°C), n = 7) et les truies Lc (dans des cases où la température extérieure était supérieure à 12,3 ± 5,3°C, n = 8). Aucune différence significative n'a été constatée entre les traitements en termes de performances. En moyenne, il y avait 12,4 ± 3,2 et 12,6 ± 2,9 porcelets nés vivants par portée et 9,3 ± 2,1 et 10,1 ± 1,9 porcelets sevrés par portée pour les truies C et L, respectivement. Pendant la construction du nid, les truies Lc ont passé significativement (P < 0,05) plus de temps à l'extérieur. Après la mise bas, les truies Lf ont transporté plus de paille (P < 0,01) et ont passé moins de temps (P < 0,05) dans la zone extérieure. Les porcelets Lf ont passé plus de temps dans le nid (P < 0,001)

Évaluations par Cartes Conceptuelles à trous et apprentissage par les pairs

Cet article décrit un nouveau dispositif d’évaluation des acquis d’apprentissage basé sur des cartes conceptuelles « à trous » (CCàT) permettant également l’apprentissage par les pairs en grands auditoires durant les tests et une correction automatisée par des formulaires QCM.L’intérêt du dispositif est de garantir une évaluation qualitative (à haut niveau taxonomique) des apprentissages tout en facilitant la conception et la correction de ces évaluations par l’enseignant, même pour de grands groupes d’étudiants (&gt;500) et en favorisant la coopération entre étudiants en amont et pendant les évaluations

Automatized assessment of motor function in patients with NMD: MFM-Digital Study

International audienceGiven the progress of research and management in Spinal Muscular Atrophy (SMA), validated tools are needed to assess patients’ motor function. The Motor Function Measure assessment (MFM) is known as principal outcome measure of the motor function with an international recognition. It is a validated tool and sensitive to the change applicable in SMA.Clinicians from the Neuromuscular Diseases Department (Hospices Civils de Lyon, France) are developing the MFM-digital, an automated system to assess SMA patients’ motor function based on MFM. By using a Microsoft Kinect and a digital tablet, the objective is to improve reliability and acceptability of the MFM by lowering the measure’s subjectivity linked to heteroevaluation and by creating a hybrid serious-game.The feasibility study assesses the relevance of the system to capture postures and motions during a MFM test. Due to technological limits of capture by the Kinect sensor, 14 on 32 items may be recognized by the Kinect and 3 items by a tablet. In each case, the therapist scores items in live by referring to the MFM manual. Based on digital data coming from Kinect and tablet records, the principal investigator informs a blind score. The good correlation between items scoring by a therapist and items scoring on captured digital data show the possibility to use an algorithm to propose an automatic score.21 records of MFM were collected with Kinect and Tablet sensors. The first results are encouraging, showing a good concordance between the scores with tracks of improvements of the system in particular concerning the capture for weaker patients. The data supplied by the MFM-digital system bring additional data, in particular the duration of the items’ exercises and kinematic parameters.One interest of this work consists in creating an automatic measurement tool, based on the MFM-items, which has already shown its validity

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Nephronophthisis (NPH) is an autosomal-recessive ciliopathy representing one of the most frequent causes of kidney failure in childhood characterized by a broad clinical and genetic heterogeneity. Applied to one of the worldwide largest cohorts of patients with NPH, genetic analysis encompassing targeted and whole exome sequencing identified disease-causing variants in 600 patients from 496 families with a detection rate of 71%. Of 788 pathogenic variants, 40 known ciliopathy genes were identified. However, the majority of patients (53%) bore biallelic pathogenic variants in NPHP1. NPH-causing gene alterations affected all ciliary modules defined by structural and/or functional subdomains. Seventy six percent of these patients had progressed to kidney failure, of which 18% had an infantile form (under five years) and harbored variants affecting the Inversin compartment or intraflagellar transport complex A. Forty eight percent of patients showed a juvenile (5-15 years) and 34% a late-onset disease (over 15 years), the latter mostly carrying variants belonging to the Transition Zone module. Furthermore, while more than 85% of patients with an infantile form presented with extra-kidney manifestations, it only concerned half of juvenile and late onset cases. Eye involvement represented a predominant feature, followed by cerebellar hypoplasia and other brain abnormalities, liver and skeletal defects. The phenotypic variability was in a large part associated with mutation types, genes and corresponding ciliary modules with hypomorphic variants in ciliary genes playing a role in early steps of ciliogenesis associated with juvenile-to-late onset NPH forms. Thus, our data confirm a considerable proportion of late-onset NPH suggesting an underdiagnosis in adult chronic kidney disease

Correction to: Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen.

peer reviewe

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

peer reviewedNemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course and prognosis depends on the gene and mutation type. To date, 14 causative genes have been identified, and ACTA1 accounts for more than half of the severe NM cases. ACTA1 encodes α-actin, one of the principal components of the contractile units in skeletal muscle. We established a homogenous cohort of ten unreported families with severe NM, and we provide clinical, genetic, histological, and ultrastructural data. The patients manifested antenatal or neonatal muscle weakness requiring permanent respiratory assistance, and most deceased within the first months of life. DNA sequencing identified known or novel ACTA1 mutations in all. Morphological analyses of the muscle biopsy specimens showed characteristic features of NM histopathology including cytoplasmic and intranuclear rods, cytoplasmic bodies, and major myofibrillar disorganization. We also detected structural anomalies of the perinuclear space, emphasizing a physiological contribution of skeletal muscle α-actin to nuclear shape. In-depth investigations of the nuclei confirmed an abnormal localization of lamin A/C, Nesprin-1, and Nesprin-2, forming the main constituents of the nuclear lamina and the LINC complex and ensuring nuclear envelope integrity. To validate the relevance of our findings, we examined muscle samples from three previously reported ACTA1 cases, and we identified the same set of structural aberrations. Moreover, we measured an increased expression of cardiac α-actin in the muscle samples from the patients with longer lifespan, indicating a potential compensatory effect. Overall, this study expands the genetic and morphological spectrum of severe ACTA1-related nemaline myopathy, improves molecular diagnosis, highlights the enlargement of the perinuclear space as an ultrastructural hallmark, and indicates a potential genotype/phenotype correlation

Height and body-mass index trajectories of school-aged children and adolescents from 1985 to 2019 in 200 countries and territories: a pooled analysis of 2181 population-based studies with 65 million participants

Summary Background Comparable global data on health and nutrition of school-aged children and adolescents are scarce. We aimed to estimate age trajectories and time trends in mean height and mean body-mass index (BMI), which measures weight gain beyond what is expected from height gain, for school-aged children and adolescents. Methods For this pooled analysis, we used a database of cardiometabolic risk factors collated by the Non-Communicable Disease Risk Factor Collaboration. We applied a Bayesian hierarchical model to estimate trends from 1985 to 2019 in mean height and mean BMI in 1-year age groups for ages 5–19 years. The model allowed for non-linear changes over time in mean height and mean BMI and for non-linear changes with age of children and adolescents, including periods of rapid growth during adolescence. Findings We pooled data from 2181 population-based studies, with measurements of height and weight in 65 million participants in 200 countries and territories. In 2019, we estimated a difference of 20 cm or higher in mean height of 19-year-old adolescents between countries with the tallest populations (the Netherlands, Montenegro, Estonia, and Bosnia and Herzegovina for boys; and the Netherlands, Montenegro, Denmark, and Iceland for girls) and those with the shortest populations (Timor-Leste, Laos, Solomon Islands, and Papua New Guinea for boys; and Guatemala, Bangladesh, Nepal, and Timor-Leste for girls). In the same year, the difference between the highest mean BMI (in Pacific island countries, Kuwait, Bahrain, The Bahamas, Chile, the USA, and New Zealand for both boys and girls and in South Africa for girls) and lowest mean BMI (in India, Bangladesh, Timor-Leste, Ethiopia, and Chad for boys and girls; and in Japan and Romania for girls) was approximately 9–10 kg/m2. In some countries, children aged 5 years started with healthier height or BMI than the global median and, in some cases, as healthy as the best performing countries, but they became progressively less healthy compared with their comparators as they grew older by not growing as tall (eg, boys in Austria and Barbados, and girls in Belgium and Puerto Rico) or gaining too much weight for their height (eg, girls and boys in Kuwait, Bahrain, Fiji, Jamaica, and Mexico; and girls in South Africa and New Zealand). In other countries, growing children overtook the height of their comparators (eg, Latvia, Czech Republic, Morocco, and Iran) or curbed their weight gain (eg, Italy, France, and Croatia) in late childhood and adolescence. When changes in both height and BMI were considered, girls in South Korea, Vietnam, Saudi Arabia, Turkey, and some central Asian countries (eg, Armenia and Azerbaijan), and boys in central and western Europe (eg, Portugal, Denmark, Poland, and Montenegro) had the healthiest changes in anthropometric status over the past 3·5 decades because, compared with children and adolescents in other countries, they had a much larger gain in height than they did in BMI. The unhealthiest changes—gaining too little height, too much weight for their height compared with children in other countries, or both—occurred in many countries in sub-Saharan Africa, New Zealand, and the USA for boys and girls; in Malaysia and some Pacific island nations for boys; and in Mexico for girls. Interpretation The height and BMI trajectories over age and time of school-aged children and adolescents are highly variable across countries, which indicates heterogeneous nutritional quality and lifelong health advantages and risks