Orofacial Dystonia and Other Oromandibular Movement Disorders

Orofacial movement disorders (OMD) are a group of conditions that affect the motor aspect of the trigeminal, facial, and hypoglossal cranial nerves. These alterations are produced by pathologic disorders affecting the central nervous system, manifesting as isolated or combined hyperkinetic dysfunctional activities on the masticatory, facial mimic, or tongue musculatures. A comprehensive understanding of orofacial dystonias is essential to identify different variants of OMD that could be easily mislabeled or misdiagnosed. In this chapter, the authors focus on different aspects of the pathophysiology, epidemiology, clinical features, and management of orofacial dystonias and other movement disorders that are poorly recognized but not uncommon presentations of OMD, such as orofacial dyskinesias, drug-induced orofacial reactions, tardive orofacial syndromes, and bruxism

Economic and cultural determinants of elite attitudes toward redistribution

Previous studies have posited that elites are willing to advance the redistribution of income and social goods when the negative effects of inequality, such as crime and conflict, threaten their own interests. Although elites acknowledge these negative effects, their support for redistributive policies remains low throughout the Global South. We address this paradox using a multi-method research design. Drawing on 56 in-depth interviews with Brazilian political and economic elites, we document how, when discussing the negative effects of inequality, interviewees consistently characterized the poor as ignorant, irrational and politically incompetent. We use these findings to theorize about the negative impact of such perceptions of the poor on elite support for redistribution. We then test this relationship using survey data gathered from random samples of political and economic elites in Brazil, South Africa and Uruguay (N = 544). We find the relationship to be robust

Generative AI tools in healthcare education and research

Given the rapid development and accessibility of these tools, it has become clear that Generative AI has multiple uses for teaching, learning and research. This workshop will provide best practices, in a hands-on experience, of the most relevant Generative AI tools for healthcare educators and students, with the aim of understanding the mechanisms that drive AI and the usefulness of it.N/

Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates

Impaired neuronal proteostasis is a salient feature of many neurodegenerative diseases, highlighting alterations in the function of the endoplasmic reticulum (ER). We previously reported that targeting the transcription factor XBP1, a key mediator of the ER stress response, delays disease progression and reduces protein aggregation in various models of neurodegeneration. To identify disease modifier genes that may explain the neuroprotective effects of XBP1 deficiency, we performed gene expression profiling of brain cortex and striatum of these animals and uncovered insulin-like growth factor 2 (Igf2) as the major upregulated gene. Here, we studied the impact of IGF2 signaling on protein aggregation in models of Huntington's disease (HD) as proof of concept. Cell culture studies revealed that IGF2 treatment decreases the load of intracellular aggregates of mutant huntingtin and a polyglutamine peptide. These results were validated using induced pluripotent stem cells (iPSC)-derived medium spiny neurons from HD patients and spinocerebellar ataxia cases. The reduction in the levels of mutant huntingtin was associated with a decrease in the half-life of the intracellular protein. The decrease in the levels of abnormal protein aggregation triggered by IGF2 was independent of the activity of autophagy and the proteasome pathways, the two main routes for mutant huntingtin clearance. Conversely, IGF2 signaling enhanced the secretion of soluble mutant huntingtin species through exosomes and microvesicles involving changes in actin dynamics. Administration of IGF2 into the brain of HD mice using gene therapy led to a significant decrease in the levels of mutant huntingtin in three different animal models. Moreover, analysis of human postmortem brain tissue and blood samples from HD patients showed a reduction in IGF2 level. This study identifies IGF2 as a relevant factor deregulated in HD, operating as a disease modifier that buffers the accumulation of abnormal protein species

A Multicentric, Open-Label, Randomized, Comparative Clinical Trial of Two Different Doses of Expanded hBM-MSCs Plus Biomaterial versus Iliac Crest Autograft, for Bone Healing in Nonunions after Long Bone Fractures: Study Protocol

ORTHOUNION is a multicentre, open, comparative, three-arm, randomized clinical trial (EudraCT number 2015-000431-32) to compare the efficacy, at one and two years, of autologous human bone marrow-derived expanded mesenchymal stromal cell (hBM-MSC) treatments versus iliac crest autograft (ICA) to enhance bone healing in patients with diaphyseal and/or metaphysodiaphyseal fracture (femur, tibia, and humerus) status of atrophic or oligotrophic nonunion (more than 9 months after the acute fracture, including recalcitrant cases after failed treatments). The primary objective is to determine if the treatment with hBM-MSCs combined with biomaterial is superior to ICA in obtaining bone healing. If confirmed, a secondary objective is set to determine if the dose of 100 × 106 hBM-MSCs is noninferior to that of 200 × 106 hBM-MSCs. The participants (n = 108) will be randomly assigned to either the experimental low dose (n = 36), the experimental high dose (n = 36), or the comparator arm (n = 36) using a central randomization service. The trial will be conducted in 20 clinical centres in Spain, France, Germany, and Italy under the same clinical protocol. The confirmation of superiority for the proposed ATMP in nonunions may foster the future of bone regenerative medicine in this indication. On the contrary, absence of superiority may underline its limitations in clinical use

Aymara Arutha Chiqapa Qillqañataki Panka = Manual de escritura aimara 1

Este texto permite a docentes de EIB conocer más su lengua originaria, contar con orientaciones para el uso del alfabeto oficial y normas de escritura consensuadas, y avanzar en la construcción de estilos escritos que se vayan estandarizando por acción de los hablantes de esta lengua originaria. Todo esto es necesario para desarrollar la propuesta pedagógica de EIB y promover competencias comunicativas en la lengua originaria como lengua materna de los niños y niñas. Este material es el resultado de un trabajo conjunto entre lingüistas, docentes, representantes de organizaciones indígenas, especialistas de EIB y sabio(a)s quienes hablan y/o escriben competentemente en dicha lengua. El texto se pone a a disposición de los maestros y maestras de las instituciones educativas donde asisten estudiantes del pueblo aimara para que consulten diversos aspectos respecto a la escritura en esta lengua. Un docente que maneja en forma oral y escrita la lengua originaria de sus estudiantes y desarrolla competencias comunicativas en ella, contribuirá a lograr los cambios necesarios para llevar a cabo el modelo de servicio EIB en sus diferentes formas de atención y, por lo tanto, al desarrollo de aprendizajes pertinentes en los estudiantes de los pueblos originarios

A search for pair-produced resonances in four-jet final states at root s=13 TeV with the ATLAS detector

A search for massive coloured resonances which are pair-produced and decay into two jets is presented. The analysis uses 36.7 fb−1 − 1 of √ s = 13 TeV pp collision data recorded by the ATLAS experiment at the LHC in 2015 and 2016. No significant deviation from the background prediction is observed. Results are interpreted in a SUSY simplified model where the lightest supersymmetric particle is the top squark, ̃ t ~ , which decays promptly into two quarks through R-parity-violating couplings. Top squarks with masses in the range 100 GeV<̃<410 100 GeV < m t ~ < 410 GeV GeV are excluded at 95% confidence level. If the decay is into a b-quark and a light quark, a dedicated selection requiring two b-tags is used to exclude masses in the ranges 100 GeV<̃<470 100 GeV < m t ~ < 470 GeV GeV and 480 GeV<̃<610 480 GeV < m t ~ < 610 GeV GeV . Additional limits are set on the pair-production of massive colour-octet resonances

Aymara Arutha Chiqapa Qillqañataki Panka = Manual de escritura aimara 1

Este texto permite a docentes de EIB conocer más su lengua originaria, contar con orientaciones para el uso del alfabeto oficial y normas de escritura consensuadas, y avanzar en la construcción de estilos escritos que se vayan estandarizando por acción de los hablantes de esta lengua originaria. Todo esto es necesario para desarrollar la propuesta pedagógica de EIB y promover competencias comunicativas en la lengua originaria como lengua materna de los niños y niñas. Este material es el resultado de un trabajo conjunto entre lingüistas, docentes, representantes de organizaciones indígenas, especialistas de EIB y sabio(a)s quienes hablan y/o escriben competentemente en dicha lengua. El texto se pone a a disposición de los maestros y maestras de las instituciones educativas donde asisten estudiantes del pueblo aimara para que consulten diversos aspectos respecto a la escritura en esta lengua. Un docente que maneja en forma oral y escrita la lengua originaria de sus estudiantes y desarrolla competencias comunicativas en ella, contribuirá a lograr los cambios necesarios para llevar a cabo el modelo de servicio EIB en sus diferentes formas de atención y, por lo tanto, al desarrollo de aprendizajes pertinentes en los estudiantes de los pueblos originarios

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia