Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1-/- mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the γ-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele

İki küçük avcının korkunç sergüzeştleri

M. K.'nın Yeni Yol'da tefrika edilen İki Küçük Avcının Korkunç Sergüzeştleri adlı romanıArşivdeki eksikler nedeniyle romanın tam metni verilememiştir. Bkz. Tefrika bilgi form

Experiences of wearing support garments by people living with a urostomy

BACKGROUND:support garments are commonly worn by people with a urostomy but there are no published data about their experiences of doing so. AIMS:to identify the views of people living with a urostomy on the role of support garments. METHODS:a cross-sectional survey of the stoma population's experiences of support garments was conducted in 2018. Recruitment was by social media. The free-text responses provided by a sub-sample of 58 people out of 103 respondents with a urostomy, were analysed. FINDINGS:thematic analysis revealed four themes: physical self-management; psychosocial self-management; lifestyle; and healthcare advice and support. There were mixed feelings about the value of support garments. Many cited a sense of reassurance and confidence and being able to be more sociable and active; others reported discomfort and uncertainty about their value. CONCLUSION:these findings add new understanding of experiences of support garments and provide novel theoretical insights about life with a urostomy

Goal-Directed Reasoning and Cooperation in Robots in Shared Workspaces: an Internal Simulation Based Neural Framework

From social dining in households to product assembly in manufacturing lines, goal-directed reasoning and cooperation with other agents in shared workspaces is a ubiquitous aspect of our day-to-day activities. Critical for such behaviours is the ability to spontaneously anticipate what is doable by oneself as well as the interacting partner based on the evolving environmental context and thereby exploit such information to engage in goal-oriented action sequences. In the setting of an industrial task where two robots are jointly assembling objects in a shared workspace, we describe a bioinspired neural architecture for goal-directed action planning based on coupled interactions between multiple internal models, primarily of the robot’s body and its peripersonal space. The internal models (of each robot’s body and peripersonal space) are learnt jointly through a process of sensorimotor exploration and then employed in a range of anticipations related to the feasibility and consequence of potential actions of two industrial robots in the context of a joint goal. The ensuing behaviours are demonstrated in a real-world industrial scenario where two robots are assembling industrial fuse-boxes from multiple constituent objects (fuses, fuse-stands) scattered randomly in their workspace. In a spatially unstructured and temporally evolving assembly scenario, the robots employ reward-based dynamics to plan and anticipate which objects to act on at what time instances so as to successfully complete as many assemblies as possible. The existing spatial setting fundamentally necessitates planning collision-free trajectories and avoiding potential collisions between the robots. Furthermore, an interesting scenario where the assembly goal is not realizable by either of the robots individually but only realizable if they meaningfully cooperate is used to demonstrate the interplay between perception, simulation of multiple internal models and the resulting complementary goal-directed actions of both robots. Finally, the proposed neural framework is benchmarked against a typically engineered solution to evaluate its performance in the assembly task. The framework provides a computational outlook to the emerging results from neurosciences related to the learning and use of body schema and peripersonal space for embodied simulation of action and prediction. While experiments reported here engage the architecture in a complex planning task specifically, the internal model based framework is domain-agnostic facilitating portability to several other tasks and platforms

Crise de abastecimento de água em São Paulo e falta de planejamento estratégico

Embora a crise no abastecimento de água na Região Metropolitana de São Paulo (RMSP) tenha se manifestado de maneira mais intensa no verão de 2013-2014, ela revela um problema crônico que vem afetando toda a Região nos últimos dez anos. Esse problema foi gerado pela falta de um planejamento estratégico que considere questões climatológicas que podem indicar, com meses de antecedência, problemas de recomposição dos níveis dos mananciais, permitindo que ações sejam empreendidas com razoável antecedência, reduzindo os impactos para a população. Este estudo mostra como é possível utilizar informações climáticas na gestão estratégica do sistema de abastecimento da RMSP.Though the crisis in the water supplying system in the Metropolitan Region of São Paulo (RMSP) was more intensively felt in the 2013-2014 summer, it reveals a chronic problem that has been affecting the whole RMSP for the past ten years. This problem is originated from the lack of a strategic planning that takes into consideration climate issues that could, months before, foresee problems to restore the levels of water resources, allowing measures to be implemented within a reasonable anticipation, therefore reducing the impacts on the population. This study shows how it is possible to use climate information in the strategic management of the water supply in the RMSP

Minimizing and adding value to seafood processing wastes

This study investigated waste minimization and recycling opportunities in a seafood processing industry. An environmental performance evaluation was done to benchmark performance of the company with published data including Best Available Techniques (BATs) determined by The European IPPC Bureau (EIPPCB). Four broad objectives were set improving the resource efficiency and adding value to solid wastes/by-products. 18 different techniques/measures for reducing waste and adding value to the by-product were identified. Three of the techniques/measures were selected and implemented within the company. Specific water consumption decreased 65% and 77% in anchovy thawing and gutting processes, respectively. Because anchovy is the major product of the company, total water saving was 45.0%. Annual total water saving was estimated to be 29,002 m(3). The water recycling system introduced in the gutting process enabled t production of valuable fish oil/grease by-product. Payback period for the implementations was estimated to be 1.6 years. This study demonstrated that environmental and economic benefits can be obtained in the Turkish seafood industry. (C) 2016 Institution of Chemical Engineers. Published by Elsevier B.V. All rights reserved

Analysis of natural dyestuffs in <i>Achillea grandifolia </i>Friv. using HPLC-DAD and Q-TOF LC/MS

83-88The aim of this study was to analysis of natural dyestuffs from Achillea grandifolia Friv. leaves, flowers and stems in wool dyeing. The optimum dye extraction temperature and time were determined by spectrophotometrically. Natural dyeing was carried out with the optimized dye extract on unmordanted wool fabrics. The dyestuffs were analysed using electrospray ionization-quadrupole-time of flight liquid chromatography mass spectrometry (ESI-Q-TOF LC/MS) and high-performance liquid chromatography equipped with photodiode array detector (HPLC-DAD) methods. Thus, the purpose of this study was to identify and quantify of colouring constituents from the plant. As a result of the analysis, natural dyestuffs in Achillea grandifolia were determined as luteolin, rutin, quercetin, luteolin-7-O glucoside, quercetagetin 3,6-dimethyl ether, chlorogenic acid, caffeic acid, dicaffeoylquinic acid and their isomers. Finally, the colorimetric properties of the dyed fabrics were evaluated in CIELAB (Commission Internationale de l’Eclairage, CIE) system. L* (brightness), a* (red/green) and b* (yellow/blue) values of dyestuffs were measured