Tibialis posterior transfer in central palsy of foot levators: A propos of 17 cases

Tibialis posterior transfer in central palsy of foot levators: a propos of 17cases.AimTo evaluate, in spastic patients with a lack of tibialis anterior spontaneous contraction, the efficiency of the tibialis posterior transfer and the occurrence of adverse effects on the static foot posture.Patients and methodsSeventeen patients were evaluated retrospectively, on average 69months after intervention (9–108). Mean age was 47years (26–61). Seven patients presented stroke, 4cranial trauma, 3medullar trauma, 3patients suffered respectively from cerebral palsy, cerebral tumor and cervical myelopathy. The tibialis posterior was transferred on the tibialis anterior in 9cases, on the peroneus brevis in 5cases, on the calcaneocuboid capsule once and on both tibialis anterior and calcaneocuboid capsule once. Three isolated talo-navicular arthrodesis and one triple arthrodesis were associated.ResultsWe found the need of orthosis decreased (P=0,021), 9patients no longer needed their orthosis. The walking distance was significantly increased (P=0,031) in 9patients. The average satisfaction score was 2.71/4 (0–4).On average, the maximum active dorsiflexion reached the neutral position (−20 to 20) with knee extended and 6° (−10–20) with knee flexed; the arc of movement averaged 9° (0–40) knee extended and 16,2° (0–40) knee flexed during analytic testing and 2,8° (0–10) when walking. Only half of the patients presented a tenodesis effect when walking. Dorsiflexion strength averaged 1,5 (0–5). Six patients had a normal plantar footprint, 8 a cavus foot and 2 a flatfoot, without any worsening compared to preoperative status. The Djian angle averaged 119,5° (105–138) and the hindfoot alignment angle was 7,7° valgus. There was no significant difference with the non-operated foot.DiscussionThe tibialis posterior transfer is effective in foot-drop in half of the patients, with a tenodesis effect that is not systematic in spastic patients. A flat valgus foot does not appear to be a long-term complication of this procedure

Subjective Postural Vertical and Adolescent Idiopathic Scoliosis (AIS)

ObjectiveThe origin of the AIS is unknown. Several studies in AIS have shown disturbances of orthostatic postural control and somatosensory modality. The orthostatic postural control is the ability to organize the upright position on the earth-vertical, by multisensory central integration, especially somatosensory information. Our hypothesis is that the somatosensory disturbances in the AIS involve change in the organization of orthostatic postural control, around an erroneous central representation of verticality. Our objective is to test, in the AIS, the existence of a disturbance of the somatosensory modality in orthostatic postural control by measuring the Subjective Postural Vertical (SPV).MethodsUncontrolled preliminary study on 8 adolescents with SIA (7 girls, 13.8±0.83 years, 38.8±10.4°angle). Test=SPV measurement, vision obscured, head-trunk-members strapped, sitting on a seat, fixed to a German vertical wheel athletic gymnastics (external diameter: 1.90 m), with electronic inclinometer that measures the rotational tilt of the seat, with reference to the gravitational vertical. From 45° inclination, the subject is tilted (1°/sec) and evaluates the alignment with the vertical gravitational.ResultsAIS SPV=7.48±4.86° with a tilt predominance to the right. It is impossible to realize statistical evaluation in this preliminary study. Our results are comparable with those reported in pusher patient.DiscussionThis preliminary study shows a disturbance in the assessment of SPV in the AIS. Disorders of the central integration of somatosensory modality could explain this result.The authors are grateful to the Harps Association's members, for their helpful comments

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Familias de genes; Trastornos del desarrollo neurológico; HnRNPsFamílies genètiques; Trastorns del desenvolupament neurològic; HnRNPsGene families; Neurodevelopmental disorders; HnRNPsBackground With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations. Methods We tested our hypothesis by considering gene families that have multiple members with an enrichment of de novo variants among NDDs, as determined by previous meta-analyses. One of these gene families is the heterogeneous nuclear ribonucleoproteins (hnRNPs), which has 33 members, five of which have been recently identified as NDD genes (HNRNPK, HNRNPU, HNRNPH1, HNRNPH2, and HNRNPR) and two of which have significant enrichment in our previous meta-analysis of probands with NDDs (HNRNPU and SYNCRIP). Utilizing protein homology, mutation analyses, gene expression analyses, and phenotypic characterization, we provide evidence for variation in 12 HNRNP genes as candidates for NDDs. Seven are potentially novel while the remaining genes in the family likely do not significantly contribute to NDD risk. Results We report 119 new NDD cases (64 de novo variants) through sequencing and international collaborations and combined with published clinical case reports. We consider 235 cases with gene-disruptive single-nucleotide variants or indels and 15 cases with small copy number variants. Three hnRNP-encoding genes reach nominal or exome-wide significance for de novo variant enrichment, while nine are candidates for pathogenic mutations. Comparison of HNRNP gene expression shows a pattern consistent with a role in cerebral cortical development with enriched expression among radial glial progenitors. Clinical assessment of probands (n = 188–221) expands the phenotypes associated with HNRNP rare variants, and phenotypes associated with variation in the HNRNP genes distinguishes them as a subgroup of NDDs. Conclusions Overall, our novel approach of exploiting gene families in NDDs identifies new HNRNP-related disorders, expands the phenotypes of known HNRNP-related disorders, strongly implicates disruption of the hnRNPs as a whole in NDDs, and supports that NDD subtypes likely have shared molecular pathogenesis. To date, this is the first study to identify novel genetic disorders based on the presence of disorders in related genes. We also perform the first phenotypic analyses focusing on related genes. Finally, we show that radial glial expression of these genes is likely critical during neurodevelopment. This is important for diagnostics, as well as developing strategies to best study these genes for the development of therapeutics.This work was supported, in part, by the U.S. National Institutes of Health (R01MH101221) to E.E.E. Research reported in this publication was supported, in part, by the National Institute of Neurological Disorders and Stroke (NINDS) under award number K08NS092898, Jordan’s Guardian Angels, and the Brotman Baty Institute (to G.M.M.). M.I., A.C., and A.S. were supported by the G.E.N.E. (Genomic analysis Evaluation Network) Research Project founded by Progetti di Innovazione in Ambito Sanitario e Socio Sanitario (Bando EX decreto n.2713 28.02.2018) Regione Lombardia. D. L was supported by the German Research Foundation (DFG; LE 4223/1). B.B.A.d.V. and L.E.L.M.V. were supported by grants from the Dutch Organization for Health Research and Development (ZON-MW grants 917–86–319 and 912–12–109). M.E., O.G., and C.R. received funding from the Italian Ministry of Health (Project RC n. 2757328). I.T. is supported by generous donors to the Children’s Mercy Research Institute and the Genomic Answers for Kids program. K.X. is supported by the National Natural Science Foundation of China (NSFC: 8173000779) and the Science and Technology Major Project of Hunan Provincial Science and Technology Department (2018SK1030). M.A.G. was supported by the U.S. National Institutes of Health (T32HG000035). E.E.E. is an investigator of the Howard Hughes Medical Institute

Evolutionary conserved NSL complex/BRD4 axis controls transcription activation via histone acetylation

Cells rely on a diverse repertoire of genes for maintaining homeostasis, but the transcriptional networks underlying their expression remain poorly understood. The MOF acetyltransferase-containing Non-Specific Lethal (NSL) complex is a broad transcription regulator. It is essential in Drosophila, and haploinsufficiency of the human KANSL1 subunit results in the Koolen-de Vries syndrome. Here, we perform a genome-wide RNAi screen and identify the BET protein BRD4 as an evolutionary conserved co-factor of the NSL complex. Using Drosophila and mouse embryonic stem cells, we characterise a recruitment hierarchy, where NSL-deposited histone acetylation enables BRD4 recruitment for transcription of constitutively active genes. Transcriptome analyses in Koolen-de Vries patient-derived fibroblasts reveals perturbations with a cellular homeostasis signature that are evoked by the NSL complex/BRD4 axis. We propose that BRD4 represents a conserved bridge between the NSL complex and transcription activation, and provide a new perspective in the understanding of their functions in healthy and diseased states

Tannin- caprolactam and Tannin- PEG formulations as outdoor wood preservatives: Weathering properties

International audienceAbstractKey messageThis article presents the leaching, fire and weathering resistance improvements of samples treated with tannin-based wood preservatives added of caprolactam. PEG-added formulations show limited applicability. The FT-IR and13C-NMR analyses of the caprolactam-added formulations show some evidences of copolymerization.ContextTannin-boron wood preservatives are known for their high resistance against leaching, biological attacks, fire as well as for the good mechanical properties that they impart to wood. These properties promoted these formulations for being a candidate for the protection of green buildings. However, the low elasticity of these polymers and their dark colour implied limited weathering resistances.AimsThe aim of the study is to find suitable additives for tannin-based formulations to overcome their limited weathering resistances, without compromising the other properties.MethodsTreatment, leaching and fire tests, dimensional stability as well as artificial and natural weathering of the timber treated with caprolactam-added and PEG-added formulations were performed. FT-IR and 13C-NMR of the formulations were presented.ResultsThe presence of caprolactam improved the properties of the formulation with particularly significant results in terms of resistance against leaching and dimensional stability. These enhancements were imparted also to the weathering resistance of the tannin-caprolactam formulations. Indeed, the colour changes during the artificial and natural exposures were stable for longer periods. FT-IR and 13C-NMR investigations of the advanced formulations were led, and covalent copolymerization of the caprolactam with the tannin-hexamine polymer was observed.ConclusionThe tannin formulations with caprolactam improved the durability of the wood specimens, while the PEG-tannin presented strong application drawbacks

Anatomy and histochemistry of leaves, stem and xylopodium of Gomphrena perennis L.

Gomphrena perennis L. es una hierba perenne nativa,distribuida en el norte y centro de Argentina,a la cual se le atribuyen propiedades emolientes,diuréticas, depurativas, estomacales, febrífugas, antirreumáticasy antidiarreicas. Nuestro objetivo fueestudiar la anatomía de hoja, tallo y xilopodio deG. perennis y realizar pruebas histoquímicas paradetectar sustancias ergásticas, para lo cual se recolectaronplantas en las cimas y laderas de Sierra deLos Padres y La Vigilancia, pcia. de Buenos Aires.Se diafanizaron hojas mediante la técnica de clarificación5-5-5, para caracterizar su epidermis. Serealizaron cortes transversales (C.T.) de materialfresco de los órganos y se tiñó con colorantes ortocromáticosy metacromáticos para observar la disposición de los tejidos. Además, se realizaron pruebashistoquímicas para determinar almidón, aceites,taninos y mucílagos. En la hoja, el diafanizadomostró una disposición estomática de tipo anomocítica,y el C.T. una anatomía tipo Kranz y drusasentre los haces vasculares. Además, se observarontricomas epidérmicos no glandulares. En el tallo seobservó colénquima angular subepidérmico, un crecimientosecundario anómalo, drusas, y se evidenciócontenido de almidón. Si bien los análisis histoquímicospreliminares no demostraron la presenciade aceites, mucílagos y taninos, se continuarácon los estudios para identificar posibles principiosactivos presentes en plantas que crecen en las sierrasde Buenos Aires.Fil: Acuña, A. L. A.. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Departamento de Biología; ArgentinaFil: Thevenon, Mario. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Departamento de Biología; ArgentinaFil: Martinez Tosto, Ana Cecilia. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Departamento de Biología; Argentina. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones en Sanidad Producción y Ambiente. - Comisión de Investigaciones Científicas de la Provincia de Buenos Aires. Instituto de Investigaciones en Sanidad Producción y Ambiente; ArgentinaFil: Fernández Honaine, Mariana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mar del Plata. Instituto de Investigaciones Marinas y Costeras. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones Marinas y Costeras; ArgentinaFil: Cardinali, Francisco José. Universidad Nacional de Mar del Plata. Facultad de Ciencias Exactas y Naturales. Instituto de Investigaciones en Sanidad Producción y Ambiente. - Comisión de Investigaciones Científicas de la Provincia de Buenos Aires. Instituto de Investigaciones en Sanidad Producción y Ambiente; ArgentinaXXXVIII Jornadas Argentinas de BotánicaEntre RíosArgentinaSociedad Argentina de Botánic

Heat treatment of poplar plywood: modifications in physical, mechanical and durability properties

Plywood made of poplar are limited to indoor usages since poplar exhibits a rather low natural durability. Recently, wood heat treatments have been applied to improve properties such as decay susceptibility and dimensional stability. This study examines the potential of exposing poplar plywood to heat treatment to extend the potential of applications of this engineered wood product to outdoor end uses, and new markets accordingly. Plywood panels were glued with two different adhesive formulations based on the same melamine-urea-formaldehyde (MUF) resin to compare their respective ability to resist to the heat treatment. These different plywoods were thermally modified in saturated steam conditions at 215 °C for 2 hours following the ThermoWood® process, up to reach 14% in mass loss. The durability improvement brought by the heat treatment was assessed in order to evaluate any possible outdoor uses for such plywood. After all the conducted analyses, the potential to use heat treated poplar plywoods in humid interior and protected exterior service conditions was confirmed.ANR-10-EQPX-16 XYLOFOREST laboratoire Mixte Public/privé qui associe les Arts et Métiers (campus de Cluny) et l’entreprise Brugèr

Human impact on the transport of terrigenous and anthropogenic elements to peri-alpine lakes (Switzerland) over the last decades

Terrigenous (Sc, Fe, K, Mg, Al, Ti) and anthropogenic (Pb and Cu) element fluxes were measured in a new sediment core from Lake Biel (Switzerland) and in previously well-documented cores from two upstream lakes (Lake Brienz and Lake Thun). These three large peri-alpine lakes are connected by the Aare River, which is the main tributary to the High Rhine River. Major and trace element analysis of the sediment cores by inductively coupled plasma mass spectrometry (ICP-MS) shows that the site of Lake Brienz receives three times more terrigenous elements than the two other studied sites, given by the role of Lake Brienz as the first major sediment sink located in the foothills of the Alps. Overall, the terrigenous fluxes reconstructed at the three studied sites suggest that the construction of sediment-trapping reservoirs during the twentieth century noticeably decreased the riverine suspended sediment load at a regional scale. In fact, the extensive river damming that occurred in the upstream watershed catchment (between ca. 1930 and 1950 and up to 2300 m a.s.l.) and that significantly modified seasonal suspended sediment loads and riverine water discharge patterns to downstream lakes noticeably diminished the long-range transport of (fine) terrigenous particles by the Aare River. Concerning the transport of anthropogenic pollutants, the lowest lead enrichment factors (EFs Pb) were measured in the upstream course of the Aare River at the site of Lake Brienz, whereas the metal pollution was highest in downstream Lake Biel, with the maximum values measured between 1940 and 1970 (EF Pb >3). The following recorded regional reduction in aquatic Pb pollution started about 15 years before the actual introduction of unleaded gasoline in 1985. Furthermore, the radiometric dating of the sediment core from Lake Biel identifies three events of hydrological transport of artificial radionuclides released by the nuclear reactor of Mühleberg located at more than 15 km upstream of Lake Biel for the time period 1970 to 200