Crossing boundaries: documentation of a teacher training course on design, robotics and coding

This article reports on the results of a teacher training course in which 41 teachers, working together with three university researchers, experienced a different way to engage in meaningful teaching and learning activities in design, coding and robotics. The course was run in an Italian school during the lock-down period of the Covid-19 pandemics. The training path had the objective to make the participants work differently, acting both as researchers and as teachers in training. The research reported in this article examined if and how an online teacher training course could act as a third space between school and academic cultures to achieve a negotiation of pedagogical practices. Findings from the study, collected through pre-post questionnaires and open-ended discussions, highlight an improvement in knowledge related to coding and robotics. Moreover, during the course, teachers experienced a new approach to space-time dimensions, first-hand experimentation and a collaborative approach, leading to greater perceived confidence in their skills and competences

ACT/ICAPS: Thermoplastic composite activities

McDonnell Aircraft Company (MCAIR) is teamed with Douglas Aircraft Company (DAC) under NASA's Advanced Composite Technology (ACT) initiative in a program entitled Innovative Composite Aircraft Primary Structures (ICAPS). Efforts at MCAIR have focused on the use of thermoplastic composite materials in the development of structural details associated with an advanced fighter fuselage section with applicability to transport design. Based on innovative design/manufacturing concepts for the fuselage section primary structure, elements were designed, fabricated, and structurally tested. These elements focused on key issues such as thick composite lugs and low cost forming of fastenerless, stiffener/moldline concepts. Manufacturing techniques included autoclave consideration, single diaphragm co-consolidation (SDCC), and roll-forming

Flow-Diversion Treatment of Unruptured Saccular Anterior Communicating Artery Aneurysms: A Systematic Review and Meta-Analysis

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Clinical, molecular and glycophenotype insights in SLC39A8-CDG

Background: SLC39A8, a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn. Patients with SLC39A8-CDG present with different clinical and neuroradiological features linked to variable transferrin glycosylation profile. Galactose and Mn supplementation therapy results in the biochemical and clinical amelioration of treated patients. Results: Here, we report clinical manifestations, neuroradiological features and glycophenotypes associated with novel SLC39A8 variants (c.1048G > A; p.Gly350Arg and c.131C > G; p.Ser44Trp) in two siblings of the same Italian family. Furthermore, we describe a third patient with overlapping clinical features harbouring the homozygous missense variant A391T. The clinical phenotype of the three patients was characterized by severe developmental disability, dystonic postural pattern and dyskinesia with a more severe progression of the disease in the two affected siblings. Neuroimaging showed a Leigh syndrome-like pattern involving the basal ganglia, thalami and white matter. In the two siblings, atrophic cerebral and cerebellum changes consistent with SLC39A8-CDG were detected as well. Serum transferrin isoelectric focusing (IEF) yielded variable results with slight increase of trisialotransferrin isoforms or even normal pattern. MALDI-MS showed the presence of hypogalactosylated transferrin N-glycans, spontaneously decreasing during the disease course, only in one affected sibling. Total serum N-glycome depicted a distinct pattern for the three patients, with increased levels of undergalactosylated and undersialylated precursors of fully sialylated biantennary glycans, including the monosialo-monogalacto-biantennary species A2G1S1. Conclusions: Clinical, MRI and glycosylation features of patients are consistent with SLC39A8-CDG. We document two novel variants associated with Leigh syndrome-like disease presentation of SLC39A8-CDG. We show, for the first time, a severe neurological phenotype overlapping with that described for SLC39A8-CDG in association with the homozygous A391T missense variant. We observed a spontaneous amelioration of transferrin N-glycome, highlighting the efficacy of MS-based serum glycomics as auxiliary tool for the diagnosis and clinical management of therapy response in patients with SLC39A8-CDG. Further studies are needed to analyse more in depth the influence of SLC39A8 variants, including the common missense variant, on the expression and function of ZIP8 protein, and their impact on clinical, biochemical and neuroradiological features

Development of machine learning models to prognosticate chronic shunt-dependent hydrocephalus after aneurysmal subarachnoid hemorrhage

Background: Shunt-dependent hydrocephalus significantly complicates subarachnoid hemorrhage (SAH), and reliable prognosis methods have been sought in recent years to reduce morbidity and costs associated with delayed treatment or neglected onset. Machine learning (ML) defines modern data analysis techniques allowing accurate subject-based risk stratifications. We aimed at developing and testing different ML models to predict shunt-dependent hydrocephalus after aneurysmal SAH. Methods: We consulted electronic records of patients with aneurysmal SAH treated at our institution between January 2013 and March 2019. We selected variables for the models according to the results of the previous works on this topic. We trained and tested four ML algorithms on three datasets: one containing binary variables, one considering variables associated with shunt-dependency after an explorative analysis, and one including all variables. For each model, we calculated AUROC, specificity, sensitivity, accuracy, PPV, and also, on the validation set, the NPV and the Matthews correlation coefficient (ϕ). Results: Three hundred eighty-six patients were included. Fifty patients (12.9%) developed shunt-dependency after a mean follow-up of 19.7 (± 12.6) months. Complete information was retrieved for 32 variables, used to train the models. The best models were selected based on the performances on the validation set and were achieved with a distributed random forest model considering 21 variables, with a ϕ = 0.59, AUC = 0.88; sensitivity and specificity of 0.73 (C.I.: 0.39–0.94) and 0.92 (C.I.: 0.84–0.97), respectively; PPV = 0.59 (0.38–0.77); and NPV = 0.96 (0.90–0.98). Accuracy was 0.90 (0.82–0.95). Conclusions: Machine learning prognostic models allow accurate predictions with a large number of variables and a more subject-oriented prognosis. We identified a single best distributed random forest model, with an excellent prognostic capacity (ϕ = 0.58), which could be especially helpful in identifying low-risk patients for shunt-dependency

Procedures for listing loci and alleles of ruminants: 1991 proposals

The following procedures for listing loci in ruminants were proposed at the 1991 1st Workshop on Genetic Nomenclature of Farm Ruminants organised by COGNOSAG (Committee on Genetic Nomenclature of Sheep and Goats): identification of locus, genomic location, gene effect classification (24 entries), summary of alleles and, for each allele, after identification, phenotypic effect, inheritance and breeds implied. This set of procedures is intended for the first edition of the MIS, MIG and MIC catalogues (mendelian inheritance in sheep, goats and cattle, respectively) and is a basis for future data banking.Au cours du premier Atelier de Nomenclature Génétique des Ruminants de Ferme organisé par le COGOVICA (Comité de Nomenclature Génétique des Ovins et Caprins) en 1991, les procédures suivantes de listage des loci chez les Ruminants ont été proposées: identification du locus, localisation sur le génome, effet du gène (24 entrées), tableau des allèles et, pour chaque allèle, outre l’identification, l’effet phénotypique, l’hérédité et les races concernées. Conçue pour être utilisée dans la première édition des catalogues MIS, MIG et MIC (Mendelian Inheritance in Sheep, Goats and Cattle resp), cette grille peut servir de base pour une future banque de données

Mechanical thrombectomy in patients with proximal occlusions and low NIHSS: Results from a large prospective registry

Background: Mechanical thrombectomy is now standard of care for treatment of acute ischemic stroke secondary to large vessel occlusion in the setting of high NIHSS. We analysed a large nationwide registry focusing on patients with large vessel occlusion and low NIHSS on admission to evaluate the efficacy and safety of thrombectomy in this patient population Methods: 2826 patients treated with mechanical thrombectomy were included in a multicentre registry from January 1, 2011 to December 31, 2015. We included patients with large vessel occlusion and NIHSS ≤ 6 on admission. Baseline characteristics, imaging, clinical outcome, procedure adverse events and positive and negative outcome predictors were analysed. Results: 134 patients were included. 90/134 had an anterior circulation and 44 a posterior circulation stroke. One patient died before treatment. Successful revascularization (mTICI 2b-3) was achieved in 73.7% (98/133) of the patients. Intraprocedural adverse event was observed in 3% (4/133) of cases. Symptomatic intracranial haemorrhage rate was 5.3% (7/133). At three months, 70.9% (95/134) of the patients had mRS score 0-2, 15.7% (21/134) mRS 3-5 and 13.4% (18/134) mRS 6. Age and successful recanalization were significant predictors of a good clinical outcome on both univariate (p= 0.005 and p=0.007) and multivariable (p=0.0018 and p=0.009 [nat log]) analysis. Absence of vessel recanalization and symptomatic intracranial hemorrhage were independent predictors of poor outcome (p=0.021). Conclusions: Our study suggests that patients with large vessel occlusion and low NIHSS score on admission can benefit from mechanical thrombectomy. Randomized trials are warranted

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three COL4A5, COL4A3 and COL4A4 genes should be examined for pathogenic variants, probably by high throughput-targeted next generation sequencing (NGS) technologies, with a customised panel for simultaneous testing of the three Alport genes. These techniques identify up to 95% of pathogenic COL4A variants. Where causative pathogenic variants cannot be demonstrated, the DNA should be examined for deletions or insertions by re-examining the NGS sequencing data or with multiplex ligation-dependent probe amplification (MLPA). These techniques identify a further 5% of variants, and the remaining few changes include deep intronic splicing variants or cases of somatic mosaicism. Where no pathogenic variants are found, the basis for the clinical diagnosis should be reviewed. Genes in which mutations produce similar clinical features to Alport syndrome (resulting in focal and segmental glomerulosclerosis, complement pathway disorders, MYH9-related disorders, etc.) should be examined. NGS approaches have identified novel combinations of pathogenic variants in Alport syndrome. Two variants, with one in COL4A3 and another in COL4A4, produce a more severe phenotype than an uncomplicated heterozygous change. NGS may also identify further coincidental pathogenic variants in genes for podocyte-expressed proteins that also modify the phenotype. Our understanding of the genetics of Alport syndrome is evolving rapidly, and both genetic and non-genetic factors are likely to contribute to the observed phenotypic variability