Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1

Non peer reviewe

Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus

BACKGROUND: Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly people, characterized by gait impairment and ventricular enlargement in brain imaging. Similar findings are seen in some patients with schizophrenia (SCZ).OBJECTIVE: To determine the prevalence of SCZ among patients suffering from probable or possible iNPH and the specific effects of comorbid SCZ on the outcome of the cerebrospinal fluid (CSF) shunting.METHODS: All medical records of the 521 iNPH patients in the NPH registry were retrospectively analyzed from 1991 until 2017. The prevalence of comorbidity of SCZ was determined and compared to that of general aged (≥65 yr) population in Finland.RESULTS: We identified a total of 16 (3.1%) iNPH patients suffering from comorbid SCZ. The prevalence of SCZ among the iNPH patients was significantly higher compared to the general population (3.1% vs 0.9%, P CONCLUSION: SCZ seems to occur 3 times more frequently among iNPH patients compared to the general aged population in Finland. The outcome of the treatment was not affected by comorbid SCZ and therefore iNPH patients suffering from comorbid SCZ should not be left untreated. These results merit validation in other populations. In addition, further research towards the potential connection between these chronic conditions is warranted.</p

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

Peer reviewe

Mielikuvien kierto augmentoidussa todellisuudessa

Visuaalinen mielikuva on näköaistihavainnon kaltainen kokemus ilman kokemusta vastaavaa ulkoista ärsykettä. Mielikuvien kierto (mental rotation) tarkoittaa oletettua kykyä hahmottaa visuaalisia mielikuvia eri näkökulmista, eli toisin sanoen kiertää niitä mielessä eri kulmiin. Kyvyn mittaamiseen on kehitetty mielikuvien kiertotesti (mental rotation test, MRT). Käytännössä MRT toteutetaan esittämällä koehenkilölle objekti, jota tulee kääntää mielessä tiettyyn kulmaan, jotta testin voi läpäistä. Augmentoitu todellisuus (augmented reality, AR) tarkoittaa teknologiana virtuaalisen tiedon lisäämistä aistittuun ympäröivään todellisuuteen. Kipinän tälle kandidaatintutkielmalle antoi ajatus, että myös mielikuvitusta voisi augmentoida samalla teknologialla. Koska mielikuvitus on tieteen heikosti tuntema ja vaikeasti mitattavissa, aihe rajattiin visuaalisiin mielikuviin. Tutkielman lopullisena tavoitteena oli tutkia, paraneeko suorituskyky mielikuvien kiertotestissä, kun käännettävät objektit esitetään augmentoidussa todellisuudessa, verrattuna tavanomaiseen tietokoneen näyttöön. Tutkielmaa varten perehdyttiin kirjallisuuteen augmentoidusta todellisuudesta ja mielikuvien tutkimisesta. Tältä pohjalta kehitettiin sovellus, jolla alkuperäistä MRT:tä mukaileva koe voitiin teettää. Koehenkilöt (N = 8) suorittivat sovelluksella kokeen sekä augmentoidussa todellisuudessa, että kannettavan tietokoneen näytöllä. Tuloksia vertailemalla pääteltiin suuntaa antavasti (p = 0,24), että augmentoitu todellisuus ei merkittävästi paranna, eikä heikennä, kykyä kiertää visuaalisia mielikuvia. Yksittäisten koehenkilöiden kohdalla havaittiin kuitenkin suuriakin eroja.Visual mental imagery is an experience resembling the visual perception, but without the presence of a corresponding external stimuli. Mental rotation means the assumed ability to perceive visual mental imagery from other perspectives, in other words mentally rotate them into different angles. from different perspectives. Mental rotation test (MRT) is an experiment developed for measuring this ability. In practice, MRT is carried out by presenting a participant an object that has to be mentally rotated in order to pass the test. Augmented reality (AR) refers to the technology of adding virtual information into the sensory experience of the surrounding world. The originating idea of this bachelor’s thesis was, that imagination can be augmented as well with the same technology. Because imagination is difficult to measure and scientifically not well understood, the scope was limited to visual mental imagery. The aim of the thesis was to research, if performance increases in mental rotation test, when the objects are displayed in augmented reality, compared to a common personal computer display. For this thesis, literature on augmented reality and mental imagery research was explored. On this basis, an application was developed to carry out an experiment similar to the original MRT. Participants (N = 8) performed the test in augmented reality and on a common laptop display. By comparing the results, it was indicatively deducted (p = 0,24) that augmented reality does not significantly enhance, nor does it diminish, the ability to rotate visual mental imagery. However, some notable differences were observed from individual participants

Ludic markers for player-player observation in location-based mobile games

Abstract Background: It can be difficult to capture the subtleties of social behavior during gameplay by using existing commercial location-based mobile games as a research probe since they are not designed to reveal subtleties in player behavior. Aim: We sought to explore whether players spontaneously search for unknown fellow players and to identify ludic markers in player-player observation when playing a digital location-based mobile game that allows location spoofing in addition to automated locationing. Method: We used a constructive research approach and created a game specifically designed to allow location spoofing through self-reporting of player locations. We conducted three field trials with eight participants in total. They took part in separate field trials in groups of three, three, and two players. The participants were previously unknown to each other and commenced play at different locations inside the game area. Results and Conclusions: Qualitative analysis of the gathered video and interview material shows that the players spontaneously searched for unknown fellow players, which confirms earlier research on the topic. Further, behavioral and direct visual markers in the physical environment were reported to be the most significant cues in determining who is a player and who is not

Partial Sleep Restriction Activates Immune Response-Related Gene Expression Pathways: Experimental and Epidemiological Studies in Humans

Epidemiological studies have shown that short or insufficient sleep is associated with increased risk for metabolic diseases and mortality. To elucidate mechanisms behind this connection, we aimed to identify genes and pathways affected by experimentally induced, partial sleep restriction and to verify their connection to insufficient sleep at population level. The experimental design simulated sleep restriction during a working week: sleep of healthy men (N = 9) was restricted to 4 h/night for five nights. The control subjects (N = 4) spent 8 h/night in bed. Leukocyte RNA expression was analyzed at baseline, after sleep restriction, and after recovery using whole genome microarrays complemented with pathway and transcription factor analysis. Expression levels of the ten most up-regulated and ten most down-regulated transcripts were correlated with subjective assessment of insufficient sleep in a population cohort (N = 472). Experimental sleep restriction altered the expression of 117 genes. Eight of the 25 most up-regulated transcripts were related to immune function. Accordingly, fifteen of the 25 most up-regulated Gene Ontology pathways were also related to immune function, including those for B cell activation, interleukin 8 production, and NF-κB signaling (P<0.005). Of the ten most up-regulated genes, expression of STX16 correlated negatively with self-reported insufficient sleep in a population sample, while three other genes showed tendency for positive correlation. Of the ten most down-regulated genes, TBX21 and LGR6 correlated negatively and TGFBR3 positively with insufficient sleep. Partial sleep restriction affects the regulation of signaling pathways related to the immune system. Some of these changes appear to be long-lasting and may at least partly explain how prolonged sleep restriction can contribute to inflammation-associated pathological states, such as cardiometabolic diseases

Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus

BACKGROUND Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly people, characterized by gait impairment and ventricular enlargement in brain imaging. Similar findings are seen in some patients with schizophrenia (SCZ). OBJECTIVE To determine the prevalence of SCZ among patients suffering from probable or possible iNPH and the specific effects of comorbid SCZ on the outcome of the cerebrospinal fluid (CSF) shunting. METHODS All medical records of the 521 iNPH patients in the NPH registry were retrospectively analyzed from 1991 until 2017. The prevalence of comorbidity of SCZ was determined and compared to that of general aged (65 yr) population in Finland. RESULTS We identified a total of 16 (3.1%) iNPH patients suffering from comorbid SCZ. The prevalence of SCZ among the iNPH patients was significantly higher compared to the general population (3.1% vs 0.9%, P <.001). All iNPH patients with comorbid SCZ were CSF shunted and 12 (75%) had a clinically verified shunt response 3 to 12 mo after the procedure. The CSF shunt response rate did not differ between patients with and without comorbid SCZ. CONCLUSION SCZ seems to occur 3 times more frequently among iNPH patients compared to the general aged population in Finland. The outcome of the treatment was not affected by comorbid SCZ and therefore iNPH patients suffering from comorbid SCZ should not be left untreated. These results merit validation in other populations. In addition, further research towards the potential connection between these chronic conditions is warranted.Peer reviewe

Prevalence of schizophrenia in idiopathic normal pressure hydrocephalus

Abstract Background: Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly people, characterized by gait impairment and ventricular enlargement in brain imaging. Similar findings are seen in some patients with schizophrenia (SCZ). Objective: To determine the prevalence of SCZ among patients suffering from probable or possible iNPH and the specific effects of comorbid SCZ on the outcome of the cerebrospinal fluid (CSF) shunting. Methods: All medical records of the 521 iNPH patients in the NPH registry were retrospectively analyzed from 1991 until 2017. The prevalence of comorbidity of SCZ was determined and compared to that of general aged (≥65 yr) population in Finland. Results: We identified a total of 16 (3.1%) iNPH patients suffering from comorbid SCZ. The prevalence of SCZ among the iNPH patients was significantly higher compared to the general population (3.1% vs 0.9%, P &lt; .001). All iNPH patients with comorbid SCZ were CSF shunted and 12 (75%) had a clinically verified shunt response 3 to 12 mo after the procedure. The CSF shunt response rate did not differ between patients with and without comorbid SCZ. Conclusion: SCZ seems to occur 3 times more frequently among iNPH patients compared to the general aged population in Finland. The outcome of the treatment was not affected by comorbid SCZ and therefore iNPH patients suffering from comorbid SCZ should not be left untreated. These results merit validation in other populations. In addition, further research towards the potential connection between these chronic conditions is warranted