Mycoplasma pneumoniae associated opsoclonus-myoclonus syndrome in three cases

Opsoclonus-myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants. Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae and opsoclonus-myoclonus-ataxia syndrome is not well established so far. We present three cases with opsoclonus-myoclonus-ataxia syndrome in adolescents following an infection with M. pneumoniae. Monophasic disease course and full recovery correspond to the favorable prognosis known from parainfectious cases in young adults. This should affect therapeutic consideration. OMS should be added to the spectrum of M. pneumoniae-associated neurologic complications. Nevertheless, neuroblastoma has to be ruled out in all cases of OM

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence. In contrast to previously reported disease-causing missense variants in HNRNPA2B1, these frameshift variants do not increase the propensity of hnRNPA2 protein to fibrillize. Rather, the frameshift variants have reduced affinity for the nuclear import receptor karyopherin β2, resulting in cytoplasmic accumulation of hnRNPA2 protein in cells and in animal models that recapitulate the human pathology. Thus, we expand the phenotypes associated with HNRNPA2B1 to include an early-onset form of OPMD caused by frameshift variants that alter its nucleocytoplasmic transport dynamics

Pattern analysis in old printed books for the detection of conterfeights

International audienc

Fonctionnalisation de surface par laser ultrarapide et mise en œuvre pour les applications industrielles : planification de trajectoire basée sur la vision par ordinateur

International audienceThe unique laser-matter interaction pathway in the ultrafast regime opens up many key potential applications in biology, electronics, optics, and beyond. However, upscaling local laser texturing on large and freeform surfaces remains a challenge for the deployment of the technology at an industrial level. In this concern, path planning appears as a crucial preliminary step to succeed in an accurate and fast process. In the present work, we develop a methodology delivering an optimal scan path from a 3D point cloud on the surface to be laser treated. It can be implemented for any laser scanner embedded in a mobile head. The scan path is here defined by the sequence of target points centered in a 3D mesh adapted to the surface curvature, and calculated with surface normal, to obtain the positioning of the laser head in space for laser texturing the mesh cells, successively.L’interaction laser-matière en régime ultrarapide ouvre des perspectives clés dans de nombreuses applications en biologie, en électronique, en optique et au-delà. Cependant, la mise à l’échelle de la texturation laser locale sur de grandes surfaces de forme libre reste un défi pour le déploiement de la technologie au niveau industriel. Dans cette perspective, la planification du parcours de la tête laser apparaît comme une étape préliminaire cruciale pour réussir une texturation précise et rapide. Dans ces travaux, nous développons une méthodologie fournissant un chemin de balayage optimal à partir d'un nuage de points 3D de la surface à traiter au laser. Il peut être mis en œuvre pour tout scanner laser embarqué dans une tête mobile. Le chemin de balayage est ici défini par la séquence de points cibles centrés dans un maillage 3D adapté à la courbure de la surface, et calculé avec la normale à la surface. Il donne ainsi les positions de la tête laser dans l'espace et les cellules de maillage à texturer, séquentiellement

Participation after childhood stroke: Is there a relationship with lesion size, motor function and manual ability?

BACKGROUND Childhood arterial ischemic stroke (AIS) is associated with significant morbidity with up to 50% of affected children developing hemiparesis. Hemiparesis is assumed to influence participation within the peer group, but it is unclear to what extent its severity affects participation in different areas of social life. METHODS Thirteen children (mean age 9y6m) with AIS (6 without hemiparesis, 7 with hemiparesis) and 21 controls (mean age 9y8m) participated. We scored hemiparesis severity with hand strength asymmetry (pinch and grip strength), measured with a dynamometer. We assessed manual ability (ABILHAND-Kids), socioeconomic status (Family Affluence Scale) and participation (Participation and Environment Measure - Children and Youth). From structural MRI, we measured lesion size. We investigated differences in participation and its relationship with hemiparesis severity using non-parametric partial correlations (controlling for lesion size, manual ability, and socioeconomic status), interpreted as absent (r  0.75). Analyses were performed in jamovi 1.6.3. RESULTS Children with AIS (with or without hemiparesis) showed reduced participation frequency at school (p < 0.001), whilst participation at home and in the community resembled that of their peers. Severity of hemiparesis was moderately related to frequency and involvement at home and to involvement and desire for change in the community, although unrelated to school participation. CONCLUSION Reduced participation in school life requires close attention in the follow-up of children with AIS - regardless of the severity of hemiparesis. Participation at home and in the community is related to hemiparesis severity and may be improved with participation-focused motor intervention strategies

Mycoplasma pneumoniae associated opsoclonus-myoclonus syndrome in three cases

Opsoclonus-myoclonus syndrome (OMS) is a rare acquired movement disorder occurring in all age groups, predominantly in infants. Although the exact pathogenesis is still undefined, there is strong evidence for a paraneoplastic or parainfectious immune process resulting in central nervous system dysfunction. Mycoplasma pneumoniae has been implicated in a number of immune-mediated neurologic diseases [28]. However, the association of M. pneumoniae and opsoclonus-myoclonus-ataxia syndrome is not well established so far. We present three cases with opsoclonus-myoclonus-ataxia syndrome in adolescents following an infection with M. pneumoniae. Monophasic disease course and full recovery correspond to the favorable prognosis known from parainfectious cases in young adults. This should affect therapeutic consideration. OMS should be added to the spectrum of M. pneumoniae-associated neurologic complications. Nevertheless, neuroblastoma has to be ruled out in all cases of OMS

Variation in acid tolerance of certain freshwater crustaceans in different natural waters.

On the island of Rhum (Inner Hebrides: Western Scotland) several taxonomically diverse species of small crustaceans live in water that is more acidic and of lower ionic content than that in which they have ever been found in Yorkshire (England). Physiological difficulties appear to be experienced by these species in Yorkshire in waters that would evidently be suitable in Rhum. This may be due to the presence of heavy metals and other substances derived from atmospheric pollution, of which Rhum is largely free, that act synergistically with other stressful factors. Evidence from other areas is in agreement with this suggestion. The few species that are specialised for life in highly acidic water can frequent more acidic conditions in Yorkshire than any encountered on Rhum. Nevertheless certain species that are common in the Northern Pennines have not been found in the Southern Pennines where pollution has been most intense. One species that is common in the Northern, but has not been found in the Southern Pennines, formerly occurred there as shown by abundant remains in the peat

Neural correlates of mirror movements in children with arterial ischemic stroke

Background: Mirror movements (MM) in pediatric stroke patients are related to abnormal ipsilateral Corticospinal Tract (CST). Whilst children with contralateral CST wiring may also present with MM, the role of interhemispheric interactions remains unknown. Here, we investigated the role of interhemispheric inhibition, facilitation and functional connectivity on MM in children with contralateral CST after arterial ischemic stroke. Patients and Methods: 16 patients with pediatric stroke and contralateral CST wiring were included. Participants underwent multimodal examination including dual-pulse transcranial magnetic stimulation to measure interhemispheric inhibition (10 milliseconds interstimulus interval, measured on the flexor digitorum superficialis) and resting-state functional MRI to assess motor network functional connectivity between primary motor cortices. MM were measured with the Woods and Teuber scale in each hand (hand opening and closing, finger opposition and sequential finger movement). We conducted non-parametric correlation analysis and interpreted r-values as absent (0.75). Results: Higher MM-scores in the affected hand were related to (1) lower interhemispheric functional connectivity between the primary motor cortices (r = −0.48, p = 0.06), (2) higher inhibition from the non-lesioned to the lesioned hemisphere (r = 0.65, p = 0.01) and (3) slightly higher facilitation from the lesioned to the non-lesioned hemisphere (r = 0.36, p = 0.27). MM-scores in the non-affected hand were higher with facilitation from the lesioned to the non-lesioned hemisphere (r = 0.76, p = 0.006). Conclusion: In children with arterial ischemic stroke and contralateral CST wiring, the active motor cortex may facilitate the contralateral motor cortex and increase the occurrence of MM, highlighting the importance of interhemispheric interactions for this phenomenon