Search results for "BFI"

Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event?

2020

Abstract Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. To date, KCNQ3 mutations have been detected in only four patients with BFIE. Here, we describe the clinical pattern and course of an additional individual with BFIE associated with a novel missense heterozygous KCNQ3 c.1850G>C variant inherited by his unaffected father. The incidence of KCNQ3 mutations among BFIE patients…

The relationship between navigation abilities and mental disorders: Poster

2021

This study examined the relationship between aspects of navigational ability and behavioral traits associated with various mental disorders. We propose that navigational ability may utilize the same brain circuitry that has dysfunction in certain mental disorders and may be a beneficial early marker for these disorders. This study was inspired by the Research Domain Criteria (RDoC), a framework outlined by NIMH to study the basic dimensions of functioning that span the range of behavior from normal to abnormal. For example, we hypothesized that spatial perspective taking, which is important for navigation, could be associated with social perspective taking in disorders such as autism spectr…

The relationship between navigation abilities and mental disorders: Oral presentation

2021

Spatial Cognition 2020/1: Book of abstracts : August 2-4, 2021, University of Latvia

2021

Spatial Cognition is concerned with the acquisition, development, representation, organization, and use of knowledge about spatial objects in real, virtual or hybrid environments and processed by human or artificial agents. Spatial Cognition includes research from different fields insofar as they are concerned with cognitive agents and space, such as cognitive and developmental psychology, linguistics, computer science, geography, cartography, philosophy, neuroscience, and education. Research issues in the field range from the investigation of human spatial cognition to mobile robot navigation, including topics such as wayfinding, spatial planning, spatial learning, internal and external re…

Labvēlīgā un korektīvā humora saistība ar personības iezīmēm

2020

Veiktā pētījuma mērķis bija gūt atbildi uz jautājumu, kādas saistības ir novērojamas starp labvēlīgā humora un korektīvā humora stiliem un personības iezīmēm. Pētījuma dalībniekiem (N = 408) tika lūgts aizpildīt Labvēlīgā un korektīvā humora aptauju (BenCor), kā arī Lielā Piecinieka personības aptauju (BFI). Iegūtie rezultāti par sakarībām starp labvēlīgo humoru, korektīvo un personības iezīmēm sakrīt gan ar pieejamo teoriju, gan iepriekš veiktiem pētījumiem. Labvēlīgais humors uzrādīja pozitīvas saistības ar atvērtību pieredzei, ekstraversiju un labvēlīgumu un negatīvas – ar neirotismu, savukārt korektīvais humors uzrādīja pozitīvas saistības ar atvērtību pieredzei un ekstraversiju, kā arī…

bbFISH-ing in the sonication fluid

2019

Abstract By 2030, the annual number of combined total hip and knee arthroplasty is estimated to reach 3.5 to 4 million in the US alone. In the context of a constant increase of the number of primary and revision total hip and knee arthroplasty, an increased risk of complication is expected. Prosthetic joint infections (PJIs) represent major cause of healthcare expenditure and morbidity. PJI still remain the most common and feared arthroplasty complication. A rapid and correct diagnosis of infection is decisive for a correct therapeutical management. In this setting, the Academic Emergency Hospital Sibiu adopted and implemented, with the beginning of September 2016, a new strategy for the di…