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https://www.readbyqxmd.com/read/29902351/validation-of-the-caregiver-skills-cask-scale-in-catalonia-concordance-between-caregivers-in-attitudes-and-behaviours
#1
Cristina Vintró-Alcaraz, Gemma Mestre-Bach, Trevor Steward, María Lozano-Madrid, Zaida Agüera, Susana Jiménez-Murcia, Anna M Pedraza, Eduardo Serrano-Troncoso, Ana E Ortiz García, Teresa Rangil, Eulalia Lorán, Jose Soriano-Pacheco, Laura Medrano-Puigdollers, Sara Bujalance-Arguijo, Gina Badia, Maria Luque, Gloria Tràfach, Osane Gómez, Joan Peña, Carme Fabra, Maria Teresa Plana, Reyes Raspall, Isabel Sánchez, Nadine Riesco, Roser Granero, Cristina Carretero-Jardí, Janet Treasure, Fernando Fernández-Aranda
OBJECTIVE: The aim of this study was to validate a Spanish version of the Caregiver Skills scale (CASK) in a sample of eating disorder (ED) caregivers. A further aim was to examine the concordance/discrepancy between them (namely, between the mothers and fathers of ED patients). METHOD: Two hundred sixty-five ED caregivers were recruited from ED centers in Catalonia, Spain. Confirmatory factor analyses was used to test the factorial structure of the CASK scale. Cronbach's α was used to measure internal consistency of the CASK scales...
July 2018: European Eating Disorders Review: the Journal of the Eating Disorders Association
https://www.readbyqxmd.com/read/29878896/neutron-flux-measurements-on-a-mock-up-of-a-storage-cask-for-high-level-nuclear-waste-using-2-5-mev-neutrons
#2
H Saurí Suárez, F Becker, A Klix, B Pang, T Döring
To store and dispose spent nuclear fuel, shielding casks are employed to reduce the emitted radiation. To evaluate the exposure of employees handling such casks, Monte Carlo radiation transport codes can be employed. Nevertheless, to assess the reliability of these codes and nuclear data, experimental checks are required. In this study, a neutron generator (NG) producing neutrons of 2.5 MeV was employed to simulate neutrons produced in spent nuclear fuel. Different configurations of shielding layers of steel and polyethylene were positioned between the target of the NG and a NE-213 detector...
June 7, 2018: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/29852216/gene-co-expression-network-analysis-for-identifying-genetic-markers-in-parkinson-s-disease-a-three-way-comparative-approach
#3
Gincy George, Sachidanand Singh, Sowmya Bekshe Lokappa, Jobin Varkey
Parkinson's disease (PD) is a neurodegenerative disorder involving progressive deterioration of dopaminergic neurons. Although few genetic markers for familial PD are known, the etiology of sporadic PD remains poorly understood. Microarray data was analysed for induced pluripotent stem cells (iPSCs) derived from PD patients and mature neuronal cells (mDA) differentiated from these iPSCs. Combining expression and semantic similarity, a highly-correlated PD interactome was constructed that included interactions of established Parkinson's disease marker genes...
May 28, 2018: Genomics
https://www.readbyqxmd.com/read/29691940/novel-cask-mutations-in-cases-with-syndromic-microcephaly
#4
Francesca Cristofoli, Koen Devriendt, Erica E Davis, Hilde Van Esch, Joris R Vermeesch
Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. To understand the functional consequences of the different point mutations on the development of MC and cerebellar defects, we established a transient loss-of-function zebrafish model, and demonstrate recapitulation of relevant neuroanatomical phenotypes...
July 2018: Human Mutation
https://www.readbyqxmd.com/read/29688547/neutron-characterization-of-ensa-dpt-type-spent-fuel-cask-at-trillo-nuclear-power-plant
#5
Roberto Méndez-Villafañe, Xandra Campo-Blanco, Miguel Embid, César A Yéboles, Ramón Morales, Manuel Novo, Javier Sanz
The Neutron Standards Laboratory of CIEMAT has conducted the characterization of the independent spent fuel storage installation at the Trillo Nuclear Power Plant. At this facility, the spent fuel assemblies are stored in ENSA-DPT type dual purpose casks. Neutron characterization was performed by dosimetry measurements with a neutron survey meter (LB6411) inside the facility, around an individual cask and between stored casks, and outside the facility. Spectra measurements were also performed with a Bonner sphere system in order to determine the integral quantities and validate the use of the neutron monitor at the different positions...
April 23, 2018: Radiation Protection Dosimetry
https://www.readbyqxmd.com/read/29617172/a-case-of-exudative-vitreoretinopathy-and-chorioretinal-coloboma-associated-with-microcephaly-in-a-female-with-contiguous-xp11-3-11-4-deletion
#6
Anne-Marie Hinds, Elisabeth Rosser, M Ashwin Reddy
The constellation of signs including microcephaly, retinal colobomas, and exudative vitreo-retinopathy suggests a mutation of the KIF-11 gene on chromosome 10q. We report a female infant with these features but due, instead, to a contiguous gene deletion on chromosome Xp including the OMIM morbid genes CASK, KDM6A, NDP, MAOA, NYX, and DDX3X. The NDP deletion could account for the exudative retinopathy and the CASK deletion for the microcephaly, while CASK and KDM6A have both been associated with coloboma. This case highlights genetic heterogeneity for the clustering of these signs...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29610457/cntnap2-stabilizes-interneuron-dendritic-arbors-through-cask
#7
Ruoqi Gao, Nicolas H Piguel, Alexandria E Melendez-Zaidi, Maria Dolores Martin-de-Saavedra, Sehyoun Yoon, Marc P Forrest, Kristoffer Myczek, Gefei Zhang, Theron A Russell, John G Csernansky, D James Surmeier, Peter Penzes
Contactin associated protein-like 2 (CNTNAP2) has emerged as a prominent susceptibility gene implicated in multiple complex neurodevelopmental disorders, including autism spectrum disorders (ASD), intellectual disability (ID), and schizophrenia (SCZ). The presence of seizure comorbidity in many of these cases, as well as inhibitory neuron dysfunction in Cntnap2 knockout (KO) mice, suggests CNTNAP2 may be crucial for proper inhibitory network function. However, underlying cellular mechanisms are unclear. Here we show that cultured Cntnap2 KO mouse neurons exhibit an inhibitory neuron-specific simplification of the dendritic tree...
April 2, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29547891/signatures-of-selection-on-standing-genetic-variation-underlie-athletic-and-navigational-performance-in-racing-pigeons
#8
Malgorzata A Gazda, Pedro Andrade, Sandra Afonso, Jolita Dilyte, John P Archer, Ricardo J Lopes, Rui Faria, Miguel Carneiro
Racing pigeons have been selectively bred to find their way home quickly over what are often extremely long distances. This breed is of substantial commercial value and is also an excellent avian model to gain empirical insights into the evolution of traits associated with flying performance and spatial orientation. Here, we investigate the molecular basis of the superior athletic and navigational capabilities of racing pigeons using whole-genome and RNA sequencing data. We inferred multiple signatures of positive selection distributed across the genome of racing pigeons...
May 1, 2018: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/29520358/usage-of-ft-icr-ms-metabolomics-for-characterizing-the-chemical-signatures-of-barrel-aged-whisky
#9
Chloé Roullier-Gall, Julie Signoret, Daniel Hemmler, Michael A Witting, Basem Kanawati, Bernhard Schäfer, Régis D Gougeon, Philippe Schmitt-Kopplin
Whisky can be described as a complex matrix integrating the chemical history from the fermented cereals, the wooden barrels, the specific distillery processes, aging, and environmental factors. In this study, using Fourier transform ion cyclotron resonance mass spectrometry (FT-ICR-MS) and liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS), we analyzed 150 whisky samples from 49 different distilleries, 7 countries, and ranging from 1 day new make spirit to 43 years of maturation with different types of barrel...
2018: Frontiers in Chemistry
https://www.readbyqxmd.com/read/29518928/smart-winery-a-real-time-monitoring-system-for-structural-health-and-ullage-in-fino-style-wine-casks
#10
Eduardo Cañete, Jaime Chen, Cristian Martín, Bartolomé Rubio
The rapid development in low-cost sensor and wireless communication technology has made it possible for a large number of devices to coexist and exchange information autonomously. It has been predicted that a substantial number of devices will be able to exchange and provide information about an environment with the goal of improving our lives, under the well-known paradigm of the Internet of Things (IoT). One of the main applications of these kinds of devices is the monitoring of scenarios. In order to improve the current wine elaboration process, this paper presents a real-time monitoring system to supervise the status of wine casks...
March 7, 2018: Sensors
https://www.readbyqxmd.com/read/29512256/ibuprofen-reduces-cell-proliferation-through-inhibiting-wnt-%C3%AE-catenin-signaling-pathway-in-gastric-cancer-stem-cells
#11
Hassan Akrami, Behrouz Moradi, Diba Borzabadi Farahani, Kiumars Mehdizadeh
Nowadays, most studies focused on cancer stem cells (CSCs) through their abilities to cause tumorigenicity, drug resistance, and cancer recurrence. On the other side, nonsteroidal anti-inflammatory drugs (NSAIDs) have been taken into consideration because of cheapness and availability. For the reasons mentioned above, we have studied the effect of ibuprofen as an NSAID on CSCs derived from AGS and MKN-45 gastric cancer cell lines to perform effective cancer therapy. We evaluated cell viability, spheroid body formation, monolayer, and soft agar colony formation to express the anti-cancer effect of ibuprofen on CSCs...
March 7, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29426960/two-microcephaly-associated-novel-missense-mutations-in-cask-specifically-disrupt-the-cask-neurexin-interaction
#12
Leslie E W LaConte, Vrushali Chavan, Abdallah F Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee
Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, however, has not been directly tested. Missense variants in CASK are typically asymptomatic in girls. We report three severely affected girls with heterozygous CASK missense mutations (M519T (2), G659D (1)) who exhibit ID, microcephaly, and hindbrain hypoplasia...
March 2018: Human Genetics
https://www.readbyqxmd.com/read/29353195/neutron-field-characterization-at-the-independent-spent-fuel-storage-installation-of-the-trillo-nuclear-power-plant
#13
Xandra Campo, Roberto Méndez, Miguel Embid, Alberto Ortego, Manuel Novo, Javier Sanz
Neutron fields inside and outside the independent spent fuel storage installation of Trillo Nuclear Power Plant are characterized exhaustively in terms of neutron spectra and ambient dose equivalent, measured by Bonner sphere system and LB6411 monitor. Measurements are consistent with storage casks and building shield characteristics, and also with casks distribution inside the building. Outer values at least five times lower than dose limit for free access area are found. Measurements with LB6411 and spectrometer are consistent with each other...
May 2018: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/29352086/temporal-and-spatial-distribution-of-the-acetic-acid-bacterium-communities-throughout-the-wooden-casks-used-for-the-fermentation-and-maturation-of-lambic-beer-underlines-their-functional-role
#14
J De Roos, M Verce, M Aerts, P Vandamme, L De Vuyst
Few data have been published on the occurrence and functional role of acetic acid bacteria (AAB) in lambic beer production processes, mainly due to their difficult recovery and possibly unknown role. Therefore, a novel aseptic sampling method, spanning both the spatial and temporal distributions of the AAB and their substrates and metabolites, was combined with a highly selective medium and matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) as a high-throughput dereplication method followed by comparative gene sequencing for their isolation and identification, respectively...
April 1, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29325930/integrated-study-on-comparative-transcriptome-and-skeletal-muscle-function-in-aged-rats
#15
Jing Zhou, Zhiyin Liao, Jinliang Chen, Kexiang Zhao, Qian Xiao
The present study aimed to reveal aging-related changes in the skeletal muscle of SD rats by comparing transcriptome analysis, integrated with muscle physiological parameters. Ten rats aged 25 months were set as the old group (OG) and ten rats aged 6 months were set as the young group (YG). After 6 weeks of feeding, the body mass, grip strength, and gastrocnemius muscle mass were determined, and the differentially expressed genes were analyzed by transcriptome sequencing, followed by GO enrichment analysis and KEGG analysis...
January 2018: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/29324721/electromagnetic-acoustic-transducers-for-robotic-nondestructive-inspection-in-harsh-environments
#16
Sungho Choi, Hwanjeong Cho, Matthew S Lindsey, Cliff J Lissenden
Elevated temperature, gamma radiation, and geometric constraints inside dry storage casks for spent nuclear fuel represent a harsh environment for nondestructive inspection of the cask and require that the inspection be conducted with a robotic system. Electromagnetic acoustic transducers (EMATs) using non-contact ultrasonic transduction based on the Lorentz force to excite/receive ultrasonic waves are suited for use in the robotic inspection. Periodic permanent magnet EMATs that actuate/receive shear horizontal guided waves are developed for application to robotic nondestructive inspection of stress corrosion cracks in the heat affected zone of welds in stainless steel dry storage canisters...
January 11, 2018: Sensors
https://www.readbyqxmd.com/read/29258560/a-clinical-series-using-intensive-neurorehabilitation-to-promote-functional-motor-and-cognitive-skills-in-three-girls-with-cask-mutation
#17
Stephanie C DeLuca, Dory A Wallace, Mary Rebekah Trucks, Konark Mukherjee
OBJECTIVES: Children with microcephaly face lifelong psychomotor, cognitive, and communications skills disabilities. Etiology of microcephaly is heterogeneous but presentation often includes seizures, hypotonia, ataxia, stereotypic movements, attention deficits, excitability, cognitive delays, and poor communication skills. Molecular diagnostics have outpaced available interventions and most children receive generic physical, speech, and occupational therapies with little attention to the efficacy of such treatments...
December 19, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29158550/exome-pool-seq-in-neurodevelopmental-disorders
#18
Bernt Popp, Arif B Ekici, Christian T Thiel, Juliane Hoyer, Antje Wiesener, Cornelia Kraus, André Reis, Christiane Zweier
High throughput sequencing has greatly advanced disease gene identification, especially in heterogeneous entities. Despite falling costs this is still an expensive and laborious technique, particularly when studying large cohorts. To address this problem we applied Exome Pool-Seq as an economic and fast screening technology in neurodevelopmental disorders (NDDs). Sequencing of 96 individuals can be performed in eight pools of 12 samples on less than one Illumina sequencer lane. In a pilot study with 96 cases we identified 27 variants, likely or possibly affecting function...
December 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29138001/pdz-ligand-binding-induced-conformational-coupling-of-the-pdz-sh3-gk-tandems-in-psd-95-family-maguks
#19
Menglong Zeng, Fei Ye, Jia Xu, Mingjie Zhang
Discs large (DLG) MAGUKs are abundantly expressed in glutamatergic synapses, crucial for synaptic transmission, and plasticity by anchoring various postsynaptic components including glutamate receptors, downstream scaffold proteins and signaling enzymes. Different DLG members have shared structures and functions, but also contain unique features. How DLG family proteins function individually and cooperatively is largely unknown. Here, we report that PSD-95 PDZ3 directly couples with SH3-GK tandem in a PDZ ligand binding-dependent manner, and the coupling can promote PSD-95 dimerization and multimerization...
January 5, 2018: Journal of Molecular Biology
https://www.readbyqxmd.com/read/29067402/optic-nerve-hypoplasia-is-a-pervasive-subcortical-pathology-of-visual-system-in-neonates
#20
Chen Liang, Alicia Kerr, Yangfengzhong Qiu, Francesca Cristofoli, Hilde Van Esch, Michael A Fox, Konark Mukherjee
Purpose: Optic nerve hypoplasia (ONH) is the most common cause of childhood congenital blindness in developed nations, yet the fundamental pathobiology of ONH remains unknown. The objective of this study was to employ a 'face validated' murine model to determine the timing of onset and the pathologic characteristics of ONH. Methods: Based on the robust linkage between X-linked CASK haploinsufficiency and clinically diagnosed ONH, we hypothesized that heterozygous deletion of CASK (CASK(+/-)) in rodents will produce an optic nerve pathology closely recapitulating ONH...
October 1, 2017: Investigative Ophthalmology & Visual Science
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