Haigusjuht: haruldane suhkruhaigus MODY 2

Maturity-onset diabetes of the young (MODY) – noorte küpsuseas algav diabeet – on autosoom-dominant selt päritav mono geense etioloogiaga insuliinisõltumatu diabeedi vorm, mida iseloomustab haiguse algus enne 25. eluaastat, stabiilne kergekujuline hüperglükeemia ja isuliini sõltumatu diabeedi esinemine vähemalt ühel esimese astme sugulasel. Eesti Arst 2006; 85 (1): 46–4

Kawasaki haigus Eestis aastatel 2002–2007

Kawasaki haigus (KH) on tundmatu etioloogiaga vaskuliit, mis esineb peamiselt alla 5aastastel lastel. Haiguse diagnoosimise aluseks on tüüpiline kliiniline pilt koos lisasümptomite ning südame pärgarterite kahjustusega. Artiklis käsitletakse KH epidemioloogilisi aspekte, diagnostikat ja raviküsimusi ning tuuakse ära Eestis aastatel 2002–2007 Tallinna Lastehaiglas ja TÜ Kliinikumi lastekliinikus diagnoositud haigusjuhtude analüüs. Eesti Arst 2009; 88(Lisa4):46−5

Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study

OBJECTIVE: Argininosuccinate lyase (ASL) is integral to the urea cycle, which enables nitrogen wasting and biosynthesis of arginine, a precursor of nitric oxide. Inherited ASL deficiency causes argininosuccinic aciduria, the second most common urea cycle defect and an inherited model of systemic nitric oxide deficiency. Patients present with developmental delay, epilepsy, and movement disorder. Here we aim to characterize epilepsy, a common and neurodebilitating comorbidity in argininosuccinic aciduria. METHODS: We conducted a retrospective study in seven tertiary metabolic centers in the UK, Italy, and Canada from 2020 to 2022, to assess the phenotype of epilepsy in argininosuccinic aciduria and correlate it with clinical, biochemical, radiological, and electroencephalographic data. RESULTS: Thirty-seven patients, 1-31 years of age, were included. Twenty-two patients (60%) presented with epilepsy. The median age at epilepsy onset was 24 months. Generalized tonic-clonic and focal seizures were most common in early-onset patients, whereas atypical absences were predominant in late-onset patients. Seventeen patients (77%) required antiseizure medications and six (27%) had pharmacoresistant epilepsy. Patients with epilepsy presented with a severe neurodebilitating disease with higher rates of speech delay (p = .04) and autism spectrum disorders (p = .01) and more frequent arginine supplementation (p = .01) compared to patients without epilepsy. Neonatal seizures were not associated with a higher risk of developing epilepsy. Biomarkers of ureagenesis did not differ between epileptic and non-epileptic patients. Epilepsy onset in early infancy (p = .05) and electroencephalographic background asymmetry (p = .0007) were significant predictors of partially controlled or refractory epilepsy. SIGNIFICANCE: Epilepsy in argininosuccinic aciduria is frequent, polymorphic, and associated with more frequent neurodevelopmental comorbidities. We identified prognostic factors for pharmacoresistance in epilepsy. This study does not support defective ureagenesis as prominent in the pathophysiology of epilepsy but suggests a role of central dopamine deficiency. A role of arginine in epileptogenesis was not supported and warrants further studies to assess the potential arginine neurotoxicity in argininosuccinic aciduria

An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis. PNPO activity was quantified by measuring pyridoxal 5'-phosphate (PLP) concentrations in a DBS before and after a 30 min incubation with pyridoxine 5'-phosphate (PNP). Samples from 18 PNPO deficient patients (1 day-25 years), 13 children with other seizure disorders receiving B6 supplementation (1 month-16 years), and 37 child hospital controls (5 days-15 years) were analyzed. DBS from the PNPO-deficient samples showed enzyme activity levels lower than all samples from these two other groups as well as seven adult controls; no false positives or negatives were identified. The method was fully validated and is suitable for translation into the clinical diagnostic arena

Positional calibration methods for linear pipetting robot

This thesis aims to investigate and develop two positional calibration methods that can be applied to a linear pipetting robot. The goal of the calibration is to detect displacements that have been made to objects that are located in the the robot’s reference system and try to estimate their new position. One of the methods utilizes the pressure system that is mounted on the robot’s arm. The pressure system was able to detect surfaces by blowing air through a pipette against desired surfaces. Positional information of targeted objects are acquired by using the surface detection feature against an extruded square landmark that acts as a reference for estimating displacements.  The other method uses a barcode scanning camera by using its images to detect and retrieve positional information on Aruco markers. Estimation of the targeted object is done by tracking the movement of the Arucos position and orientation. Tests were made in order to analyse the performance of both methods and to verify that the requirement of 0.1 mm accuracy and precision could be obtained. The tests were limited to analysing the methods performance on stationary targets to guarantee that the methods did not detect incorrect displacements. It was found that the camera method could fulfill the requirement when it came to estimating XY-coordinates  by using multiple images and placing the Aruco marker within a reasonable distance to the targeted object. However, the camera method was not accurate when it came to estimating the Z-coordinates of objects. As for the pressure method, it was able to fulfill the requirement when it came to estimating Z-coordinates, but its ability to estimate the XY-coordinates of an object was not sufficient. A recommendation would be combine both methods so that they can compensate each other by using the camera method for estimating the XY-coordinates and the pressure method for estimating the Z-coordinates

Har tillgänglighet ett pris? : En empirisk studie av utbyggnaden av tunnelbanan till Hammarby Sjöstad

I syfte att bemöta befolkningstillväxten i Stockholmsområdet har flera satsningar inom kollektivtrafiken påbörjats. Denna studie har fokuserat på utbyggnaden av tunnelbanesystemet till Hammarby Sjöstad och undersökt sambandet mellan den planerade tunnelbanestationen Hammarby Kanal och bostadsrättspriser i området. Egeninsamlade data från perioden 2013 till 2017 lägger grunden för den hedoniska prissättningsmodell som skattas i syfte att pröva hur euklidiskt avstånd och gångavstånd till den planerade tunnelbanestationen samvarierar med bostadsrättspriser i området. För att undersöka huruvida den ökade tillgängligheten till kollektivtrafiken gav en kausal effekt på bostadsrättspriser i Hammarby Sjöstad analyseras en difference-in-differences-modell som jämför bostadspriserna före och efter samrådet. Resultatet har visat på en negativ samvariation mellan närhet till den planerade tunnelbanestationen och bostadsrättspriser i Hammarby Sjöstad. Däremot hade samrådet en positiv effekt på bostadspriser som kunde statistiskt säkerställas ett år efter samrådet vilket indikerar att en ökad tillgänglighet överlag är något som värderas positivt i Hammarby Sjöstad.To respond to the population growth in the Stockholm area, several public transit investments have begun. This study has been focusing on the extension of the metro to Hammarby Sjöstad and has examined the connection between the planned metro station Hammarby Kanal and housing prices in the area. Self-collected data from 2013 to 2017 lay the foundation for the hedonic pricing model which estimates how Euclidian distance and walking distance covaries with housing prices in the area. To examine whether the increased access to public transport gave a causal effect on the housing prices in Hammarby Sjöstad, a difference-in-differences model that compares the housing prices before and after the consultation is also analyzed. The result shows that there is a negative covariation between being close to the planned metro station and housing prices in Hammarby Sjöstad. However, the consultation had a positive effect on housing prices that was statistically significant one year after the consultation which indicates that an increased accessibility is something that is positively valued in Hammarby Sjöstad

Har tillgänglighet ett pris? : En empirisk studie av utbyggnaden av tunnelbanan till Hammarby Sjöstad

I syfte att bemöta befolkningstillväxten i Stockholmsområdet har flera satsningar inom kollektivtrafiken påbörjats. Denna studie har fokuserat på utbyggnaden av tunnelbanesystemet till Hammarby Sjöstad och undersökt sambandet mellan den planerade tunnelbanestationen Hammarby Kanal och bostadsrättspriser i området. Egeninsamlade data från perioden 2013 till 2017 lägger grunden för den hedoniska prissättningsmodell som skattas i syfte att pröva hur euklidiskt avstånd och gångavstånd till den planerade tunnelbanestationen samvarierar med bostadsrättspriser i området. För att undersöka huruvida den ökade tillgängligheten till kollektivtrafiken gav en kausal effekt på bostadsrättspriser i Hammarby Sjöstad analyseras en difference-in-differences-modell som jämför bostadspriserna före och efter samrådet. Resultatet har visat på en negativ samvariation mellan närhet till den planerade tunnelbanestationen och bostadsrättspriser i Hammarby Sjöstad. Däremot hade samrådet en positiv effekt på bostadspriser som kunde statistiskt säkerställas ett år efter samrådet vilket indikerar att en ökad tillgänglighet överlag är något som värderas positivt i Hammarby Sjöstad.To respond to the population growth in the Stockholm area, several public transit investments have begun. This study has been focusing on the extension of the metro to Hammarby Sjöstad and has examined the connection between the planned metro station Hammarby Kanal and housing prices in the area. Self-collected data from 2013 to 2017 lay the foundation for the hedonic pricing model which estimates how Euclidian distance and walking distance covaries with housing prices in the area. To examine whether the increased access to public transport gave a causal effect on the housing prices in Hammarby Sjöstad, a difference-in-differences model that compares the housing prices before and after the consultation is also analyzed. The result shows that there is a negative covariation between being close to the planned metro station and housing prices in Hammarby Sjöstad. However, the consultation had a positive effect on housing prices that was statistically significant one year after the consultation which indicates that an increased accessibility is something that is positively valued in Hammarby Sjöstad

Electric Bike : Independent Project in Electrical Engineering

A group project has been made in which the goal was to build an electric bike. The main focus of the project was to build the surrounding control system of a BLDC motor. A complete BLDC hub motor was purchased. The wheel managed to spin forward but it was never implemented on a bike due to time constraints. This was a rewarding and educational project that can be replicated or improved for future students

Electric Bike : Independent Project in Electrical Engineering

A group project has been made in which the goal was to build an electric bike. The main focus of the project was to build the surrounding control system of a BLDC motor. A complete BLDC hub motor was purchased. The wheel managed to spin forward but it was never implemented on a bike due to time constraints. This was a rewarding and educational project that can be replicated or improved for future students