A Case of Pediatric Stroke: Osteosarcoma Embolus in the Internal Carotid Artery

Stroke in the pediatric population is rare. Despite presentation similar to that seen in the adult patient, the diagnosis in a child can be missed or mistaken for a more common stroke mimic. Due to its rarity, there are no completed pediatric clinical trials investigating best treatment, though guidelines have been extrapolated from adult guidelines and retrospective cohort studies to include some combination of thrombolysis and mechanical thrombectomy. Rarer still is pediatric stroke caused by tumor embolus. We present the case of a young child diagnosed with stroke secondary to osteosarcoma embolism to the left internal carotid artery and review the relevant literature to discuss the considerations and challenges of treatment of stroke in the pediatric population

Italian external quality assessment program for cystic fibrosis sweat chloride test: a 2015 and 2016 results comparison

Background: Diagnostic testing in cystic fibrosis (CF) is based on the sweat chloride test (SCT) in the context of appropriate signs and symptoms of disease and results of the gene mutation analysis. In 2014 the Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF sweat chloride test (Italian EQA-SCT). In 2015 this activity was recognized as a third party service carried out by the ISS and the first official round was carried out. Aim of the present paper is to compare 2015 and 2016 results and experiences. Methods: the scheme is prospective; participation is open to Italian laboratories performing sweat test analysis for CF diagnosis. Enrollment is voluntary and since 2015 the payment of a fee is required. Participants are registered and identified through a dedicated web-facility; each participant is identified by a specific Identification Number (ID) known only to the scheme organizer (ISS). Assessment covers analysis, interpretation and reporting of results. Results: thirteen and fifteen laboratories, belonging to the Italian public Referral Centers for CF, participated in the 2015 and 2016 round respectively. Seven laboratories participated constantly in the Italian EQA-SCT from 2014, eleven participated both in 2015 and 2016 and four participated in 2016 for the first time. Variability in scores of chloride titration and heterogeneity in interpretation/reporting results were detected in both rounds. A total of 18 critical errors in chloride titration were made by eight different participants (3 laboratories participated to both 2015 and 2016 schemes). Four laboratories made errors in chloride titration samples in 2015 but drastically improved their performance in 2016. In 2016 poor performance criteria were established and adopted: three laboratories (one participating in both 2015 and 2016 rounds and two first time participating) were marked as poor performers. Conclusions: even though results show variability in performance of laboratories, constant and mandatory participation may contribute to the improvement of performance and quality reached by laboratory

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

Background. Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria. Methods. The enrollment is voluntary, fee-based and open to both public and private Italian laboratories. The scheme is annual and retrospective; a national panel of experts assess technical, analytical and interpretative performance. Results. Overall, 95 distinct Italian laboratories participated in different Cytogenetics IEQA schemes over the 2013-2016 years and most of the laboratories took part in Constitutional diagnosis. General hospitals and local health centers represented 40% of the total participants and the percentage of laboratories from Northern Regions was more than 45% of total participants throughout the 4-year period. As regards the performance evaluation, on average, 11, 9 and 23% of participants were marked as poor performers in Prenatal, Postnatal and Oncohaematological schemes, respectively. With regard to critical errors, ISCN nomenclature in Prenatal and Postnatal schemes, and interpretation in Oncohaematological diagnosis, were identified as main issues. On the other hand, karyotype errors and inadequate analysis decreased strongly, over the 4 years, in Constitutional and Oncohaematological diagnosis, respectively. Conclusions. Our data show that the introduction of poor performance encourages laboratories to address critical issues, and the IEQA participation helps to improve quality in cytogenetic testing. 

The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round

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New insights into the genetic etiology of Alzheimer's disease and related dementias.

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

New insights into the genetic etiology of Alzheimer's disease and related dementias

Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

INDUSTRIAL SEMISOLID CASTING PROCESS FOR SECONDARY ALUMINIUM ALLOYS FOR DECARBONISING LIGHTWEIGHT PARTS IN AUTOMOTIVE SECTOR

The life cycle holistic approach for the automotive sector highlighted how much important is working on decarbonisation of Al casting processes to produce vehicle components. Broadening the use of recycled aluminium alloys, instead of high energy intensive primary aluminium alloys, is key for environment preservation. While primary aluminium alloys are preferred by automotive original equipment manufacturers (OEMs) because impurities (mainly Fe) present in secondary aluminium alloys might cause fatigue properties decay, a new semisolid state process route has been developed at Brembo to drastically reduce the sensitivity of cast aluminium to Fe impurities. Based on these premises, during the CRAL European project in the framework of the LIFE Programme, an industrial prototype machinery - a vertical high pressure die casting machine - has been designed and constructed to inject secondary aluminium in the semisolid state. A number of A357 Fe-enriched brake callipers manufactured via the new process route have been fully investigated by fatigue tests, SEM and OM analyses in order to validate the new eco-sustainable product compared to conventional ones manufactured with primary aluminium by gravity casting

Fused Deposition Modeling Parameter Optimization for Cost-Effective Metal Part Printing

Metal 3D-printed parts are critical in industries such as biomedical, surgery, and prosthetics to create tailored components for patients, but the costs associated with traditional metal additive manufacturing (AM) techniques are typically prohibitive. To overcome this disadvantage, more cost-effective manufacturing processes are needed, and a good approach is to combine fused deposition modeling (FDM) with debinding-sintering processes. Furthermore, optimizing the printing parameters is required to improve material density and mechanical performance. The design of experiment (DoE) technique was used to evaluate the impact of three printing factors, namely nozzle temperature, layer thickness, and flow rate, on the tensile and bending properties of sintered 316L stainless steel in this study. Green and sintered samples were morphologically and physically characterized after printing, and the optimal printing settings were determined by statistical analysis, which included the surface response technique. The mechanical properties of the specimens increased as the flow rate and layer thickness increased and the nozzle temperature decreased. The optimized printing parameters for the ranges used in this study include 110% flow rate, 140 mu m layer thickness, and 240 degrees C nozzle temperature, which resulted in sintered parts with a tensile strength of 513 MPa and an elongation at break of about 60%