Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives

Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents’ opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child’s age, delays in accessing services, and active stakeholders’ participation when looking to improve services

Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes

Prognostic molecular biomarkers for the conversion of clinically isolated syndrome (CIS) to multiple sclerosis (MS) are lacking. In a prospective longitudinal study of 813 individuals with CIS, Cantó et al. validate elevated CSF levels of chitinase 3-like 1 as a biomarker for conversion to MS and development of disabilit

GEOMETRICAL STUDY OF GUIDE-CHAIN CONTACT, FOR GENERAL CHAIN TRANSMISSION

The friction complexity between guide and chain is generated by a large number of factors acting simultaneously, of which wear has a significant share. During transmission functioning, guide and chain are subjected to normal forces in their contact surfaces. An analysis of the guide position can be described by a mathematical model. This paper presents a synthesis on the geometry of the contact between a guide and chain drive transmission. In the first part of the paper are established mathematical relationships underlying the extent of chain drives with a chain guide. Then, based on the mathematical model are traced a number of variation diagrams of geometric and kinematic parameters

Wzorce zachowań zakupowych : obserwacje ze sklepów wielkopowierzchniowych w Rumunii

The present paper aims to identify coordinates of the buying behaviour prior to the Easter celebration displayed by people shopping from large surface stores in Bucharest, Romania. Through a comprehensive semi-structured, disguised and direct observation performed by people based on an observation guide with 7 topics conducted in three Kaufland stores located in various parts of Bucharest, quantitative and qualitative peculiarities of the buying and consumption behaviour of 413 individuals were uncovered. The findings of this study display the product categories, types and brands chosen by shoppers in large surface stores as well as coordinates of the in-store behaviour, rendering a detailed image of the conclusions prompted by the buying decision-making process with tremendous significance for the retail sector in Romania.Niniejszy artykuł ma na celu określenie współrzędnych zachowań zakupowych przed Świętami Wielkanocnymi przejawianych przez ludzi robiących zakupy w sklepach wielkopowierzchniowych w Bukareszcie w Rumunii. Poprzez obszerną semistrukturalną, z ukrycia i bezpośrednią obserwację wykonaną przez ludzi na podstawie przewodnika obserwacji z 7 tematami, przeprowadzoną w trzech sklepach Kaufland zlokalizowanych w różnych częściach Bukaresztu, zostały wykryte ilościowe i jakościowe osobliwości zachowania zakupowego i konsumpcyjnego 413 osób. Wnioski z niniejszego badania wskazują kategorie produktów, rodzaje i marki wybrane przez kupujących w sklepach wielkopowierzchniowych, jak również współrzędne zachowania w sklepie, czyniąc szczegółowy obraz wniosków wyłonionych w procesie podejmowania decyzji zakupu, które mają ogromne znaczenie dla sektora detalicznego w Rumunii

Determining forest fund evolution by fractal analysis (Suceava-Romania)

The main objective of this study is developing an analysis methodology for the forest fund dynamic. One of the most severe current issues which Romania faces is the extent of deforestation, under the pressure of economic activities, also affecting forest areas. The Global Forest Change 2000-2013 data, supplied by Maryland University, was used for the analyses conducted, being further subjected to a segmentation process, using the Colour Deconvolution plug-in of ImageJ 1.49s. The segmented images have been manually binarized, and based on the latter, the covered areas have been further calculated and expressed in km2. For this purpose, a macro was written, implemented in ImageJ 1.49s. The resulting binarized images have been fractal analyzed, using the software ImageJ 1.49s - FracLac 2015Mar6206 - Box-counting Fractal and Lacunarity Analysis. ArcGIS platform was used to draft the cartographic materials, justifying and supporting this study. The main results of this study comprise of the alarming increase in deforested areas and the large difference between official data and statistical data reported from the real field situation, which illustrates the high extent of illegal logging, reached lately. Coherent strategies for territorial management are highly required to reduce, halt and even fight against these illicit activities

Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways.

Williams syndrome (WS) is a neurodevelopmental disorder caused by a genomic deletion of ∼28 genes that results in a cognitive and behavioral profile marked by overall intellectual impairment with relative strength in expressive language and hypersocial behavior. Advancements in protocols for neuron differentiation from induced pluripotent stem cells allowed us to elucidate the molecular circuitry underpinning the ontogeny of WS. In patient-derived stem cells and neurons, we determined the expression profile of the Williams-Beuren syndrome critical region-deleted genes and the genome-wide transcriptional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23. Derived neurons displayed disease-relevant hallmarks and indicated novel aberrant pathways in WS neurons including over-activated Wnt signaling accompanying an incomplete neurogenic commitment. We show that haploinsufficiency of the ATP-dependent chromatin remodeler, BAZ1B, which is deleted in WS, significantly contributes to this differentiation defect. Chromatin-immunoprecipitation (ChIP-seq) revealed BAZ1B target gene functions are enriched for neurogenesis, neuron differentiation and disease-relevant phenotypes. BAZ1B haploinsufficiency caused widespread gene expression changes in neural progenitor cells, and together with BAZ1B ChIP-seq target genes, explained 42% of the transcriptional dysregulation in WS neurons. BAZ1B contributes to regulating the balance between neural precursor self-renewal and differentiation and the differentiation defect caused by BAZ1B haploinsufficiency can be rescued by mitigating over-active Wnt signaling in neural stem cells. Altogether, these results reveal a pivotal role for BAZ1B in neurodevelopment and implicate its haploinsufficiency as a likely contributor to the neurological phenotypes in WS