Search results for "LSA"
showing 10 items of 832 documents
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes
2017
Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…
Collapsibility of the internal jugular veins in the lateral decubitus body position: A potential protective role of the cerebral venous outflow again…
2019
Recent research has revealed that patients with neurodegenerative disease sleep longer in the supine position, while healthy controls prefer sleeping in the lateral decubitus position. Thus, sleeping in the lateral position seems to be protective against neurodegeneration. It has also been suggested that a protective role of this body position could be associated with better cerebral venous drainage in this body position, which results in more active glymphatic system of the brain (the system responsible for clearance of the cerebral tissue from waste products, e.g. amyloid-β). Since no published evidence exists regarding venous outflow from the cranial cavity in the lateral decubitus posit…
Genetic inactivation of the sigma-1 chaperone protein results in decreased expression of the R2 subunit of the GABA-B receptor and increased suscepti…
2021
There is a growing body of evidence demonstrating the significant involvement of the sigma-1 chaperone protein in the modulation of seizures. Several sigma-1 receptor (Sig1R) ligands have been demonstrated to regulate the seizure threshold in acute and chronic seizure models. However, the mechanism by which Sig1R modulates the excitatory and inhibitory pathways in the brain has not been elucidated. The aim of this study was to compare the susceptibility to seizures of wild type (WT) and Sig1R knockout (Sig1R−/−) mice in intravenous pentylenetetrazol (PTZ) and (+)-bicuculline (BIC) infusion-induced acute seizure and Sig1R antagonist NE-100-induced seizure models. To determine pos…
Antiepileptogenic Effect of Subchronic Palmitoylethanolamide Treatment in a Mouse Model of Acute Epilepsy
2018
Research on the antiepileptic effects of (endo-)cannabinoids has remarkably progressed in the years following the discovery of fundamental role of the endocannabinoid (eCB) system in controlling neural excitability. Moreover, an increasing number of well-documented cases of epilepsy patients exhibiting multi-drug resistance report beneficial effects of cannabis use. Pre-clinical and clinical research has increasingly focused on the antiepileptic effectiveness of exogenous administration of cannabinoids and/or pharmacologically induced increase of eCBs such as anandamide (also known as arachidonoylethanolamide [AEA]). Concomitant research has uncovered the contribution of neuroinflammatory p…
Socialt stöd, känsla av ensamhet och psykiska besvär bland finlandssvenska ungdomar
2021
I den här studien utforskades ifall det förekommer sociodemografiska skillnader i upplevelse av psykiska besvär, socialt stöd och känsla av ensamhet bland finlandssvenska ungdomar. Det undersöktes även ifall ungdomarnas upplevelse av psykiska besvär kan förklaras med familje-, kamrat- och klasskamratstöd samt känsla av ensamhet. Utöver det utforskades ifall samband mellan socialt stöd och psykiska besvär kan förklaras med känsla av ensamhet.
 Som datamaterial användes WHO:s skolelevstudie (WHO-Koululaistutkimus) från 2018 med ett deltagarantal på 599 svenskspråkiga elever från årskurs 5, 7 och 9 (Målder = 11,9/14,0/15,9; svarsprocent 38 %). Som statistiska analysmetoder användes Pearso…
Breaking the Dominance of Dominant Voices: How the Therapist Promotes Assimilation by Facilitating Dialogue with the Client’s Problematic Voices
2019
Assimilation requires a dialogue between the client’s dominant and non-dominant internal voices, that is between the client’s usual self and his or her problematic experiences. This dialogue is est...
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies
2016
Objective: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA).Methods: This was a population-based case–malformed control study based on 21 EUROCAT CA registries covering 10.1 million births (1995–2011), including births to 2005 in which the clubfoot signal was generated and a subsequent independent study population of 6.3 million births. A total of 226,806 babies with CA included livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis. First-trimester lamotrigine monotherapy exposure in OC cases and clubfoot cases was compared to other …
"Table 33" of "Measurement of the proton and deuteron structure functions, F2(p) and F2(d), and of the ratio sigma(L)/sigma(T)."
1997
Measurement of R=(SIG(L)/SIG(T)).
9. klases vecumposma sirdsdarbības atjaunošanās sporta stundās
2022
Diplomdarba mērķis ir pētīt un analizēt 9. klases vecumposma sirdsdarbības atjaunošanos sporta stundās. Darba ietvaros padziļināti tiek pētīta vispārējās fiziskā sagatavotības, slodzes, noguruma un atjaunošanās jēdziens, slodzes mērīšana un treniņu veidi, kā arī 9. klases vecumposma attīstības raksturojums un analizēts un salīdzināts jaunais sporta un veselības mācības standarts ar veco standartu. Lai atbildētu uz diplomdarba autores izvirzīto hipotēzi, sporta un veselības mācības stundās skolēniem tiek veicināta vispārējā fiziskā sagatavotība, tā rezultātā skolēnu sirdsdarbības pulss spēj atjaunoties starp uzdevumiem, tiek veikts garenvirziena pētījums pēc diplomdarba autores izvirzītajiem…
Factores determinantes de la salida a bolsa de una compañía. El caso español
2016
El objetivo de la Tesis Doctoral es estudiar los factores determinantes de la salida a bolsa en el mercado continuo español. Para ello considera una muestra de 44 empresas no financieras que salieron a bolsa en España en el periodo comprendido entre 1997 y 2010 y utiliza una muestra de control de empresas que eran susceptibles de salir a bolsa en el mismo periodo, pero que optaron por no hacerlo. Para el logro del objetivo señalado, la Tesis se estructura en una Introducción general, cuatro capítulos, una sección en la que se recogen la discusión y las conclusiones de la Tesis, las referencias bibliográficas y siete anexos. El capítulo primero aborda tres cuestiones relacionadas con la sali…