The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.

BACKGROUND/AIMS: Primary hypoaldosteronism is a rare inborn disorder with life-threatening symptoms in newborns and infants due to an aldosterone synthase defect. Diagnosis is often difficult as the plasma aldosterone concentration (PAC) can remain within the normal range and thus lead to misinterpretation and delayed initiation of life-saving therapy. We aimed to test the eligibility of the PAC/plasma renin concentration (PRC) ratio as a tool for the diagnosis of primary hypoaldosteronism in newborns and infants. Meth ods: Data of 9 patients aged 15 days to 12 months at the time of diagnosis were collected. The diagnosis of primary hypoaldosteronism was based on clinical and laboratory findings over a period of 12 years in 3 different centers in Switzerland. To enable a valid comparison, the values of PAC and PRC were correlated to reference methods. RESULTS: In 6 patients, the PAC/PRC ratio could be determined and showed constantly decreased values <1 (pmol/l)/(mU/l). In 2 patients, renin was noted as plasma renin activity (PRA). PAC/PRA ratios were also clearly decreased. The diagnosis was subsequently genetically confirmed in 8 patients. CONCLUSION: A PAC/PRC ratio <1 pmol/mU and a PAC/PRA ratio <28 (pmol/l)/(ng/ml × h) are reliable tools to identify primary hypoaldosteronism in newborns and infants and help to diagnose this life-threatening disease faster. © 2015 S. Karger AG, Basel.

Visual Measurement and Modelling of Tool Wear in Rough Turning

Huolimatta korkeasta automaatioasteesta sorvausteollisuudessa, muutama keskeinen ongelma estää sorvauksen täydellisen automatisoinnin. Yksi näistä ongelmista on työkalun kuluminen. Tämä työ keskittyy toteuttamaan automaattisen järjestelmän kulumisen, erityisesti viistekulumisen, mittaukseen konenäön avulla. Kulumisen mittausjärjestelmä poistaa manuaalisen mittauksen tarpeen ja minimoi ajan, joka käytetään työkalun kulumisen mittaukseen. Mittauksen lisäksi tutkitaan kulumisen mallinnusta sekä ennustamista. Automaattinen mittausjärjestelmä sijoitettiin sorvin sisälle ja järjestelmä integroitiin onnistuneesti ulkopuolisten järjestelmien kanssa. Tehdyt kokeet osoittivat, että mittausjärjestelmä kykenee mittaamaan työkalun kulumisen järjestelmän oikeassa ympäristössä. Mittausjärjestelmä pystyy myös kestämään häiriöitä, jotka ovat konenäköjärjestelmille yleisiä. Työkalun kulumista mallinnusta tutkittiin useilla eri menetelmillä. Näihin kuuluivat muiden muassa neuroverkot ja tukivektoriregressio. Kokeet osoittivat, että tutkitut mallit pystyivät ennustamaan työkalun kulumisasteen käytetyn ajan perusteella. Parhaan tuloksen antoivat neuroverkot Bayesiläisellä regularisoinnilla.

Radiographic volume analysis as a novel tool to determine nasopalatine duct cyst dimensions and its association with presenting symptoms and postoperative complications.

OBJECTIVES: The aims of the study were to use cone beam computed tomography (CBCT) images of nasopalatine duct cysts (NPDC) and to calculate the diameter, surface area, and 3D-volume using a custom-made software program. Furthermore, any associations of dimensions of NPDC with age, gender, presence/absence of maxillary incisors/canines (MI/MC), endodontic treatment of MI/MC, presenting symptoms, and postoperative complications were evaluated. MATERIAL AND METHODS: The study comprised 40 patients with a histopathologically confirmed NPDC. On preoperative CBCT scans, curves delineating the cystic borders were drawn in all planes and the widest diameter (in millimeter), surface area (in square millimeter), and volume (in cubic millimeter) were calculated. RESULTS: The overall mean cyst diameter was 15 mm (range 7-47 mm), the mean cyst surface area 566 mm(2) (84-4,516 mm(2)), and the mean cyst volume 1,735 mm(3) (65-25,350 mm(3)). For 22 randomly allocated cases, a second measurement resulted in a mean absolute aberration of ±4.2 % for the volume, ±2.8 % for the surface, and ±4.9 % for the diameter. A statistically significant association was found for the CBCT determined cyst measurements and the need for preoperative endodontic treatment to MI/MC and for postoperative complications. CONCLUSION: In the hands of a single experienced operator, the novel software exhibited high repeatability for measurements of cyst dimensions. Further studies are needed to assess the application of this tool for dimensional analysis of different jaw cysts and lesions including treatment planning. CLINICAL RELEVANCE: Accurate radiographic information of the bone volume lost (osteolysis) due to expansion of a cystic lesion in three dimensions could help in personalized treatment planning.

Multicontrast connectometry: A new tool to assess cerebellum alterations in early relapsing-remitting multiple sclerosis.

BACKGROUND: Cerebellar pathology occurs in late multiple sclerosis (MS) but little is known about cerebellar changes during early disease stages. In this study, we propose a new multicontrast "connectometry" approach to assess the structural and functional integrity of cerebellar networks and connectivity in early MS. METHODS: We used diffusion spectrum and resting-state functional MRI (rs-fMRI) to establish the structural and functional cerebellar connectomes in 28 early relapsing-remitting MS patients and 16 healthy controls (HC). We performed multicontrast "connectometry" by quantifying multiple MRI parameters along the structural tracts (generalized fractional anisotropy-GFA, T1/T2 relaxation times and magnetization transfer ratio) and functional connectivity measures. Subsequently, we assessed multivariate differences in local connections and network properties between MS and HC subjects; finally, we correlated detected alterations with lesion load, disease duration, and clinical scores. RESULTS: In MS patients, a subset of structural connections showed quantitative MRI changes suggesting loss of axonal microstructure and integrity (increased T1 and decreased GFA, P < 0.05). These alterations highly correlated with motor, memory and attention in patients, but were independent of cerebellar lesion load and disease duration. Neither network organization nor rs-fMRI abnormalities were observed at this early stage. CONCLUSION: Multicontrast cerebellar connectometry revealed subtle cerebellar alterations in MS patients, which were independent of conventional disease markers and highly correlated with patient function. Future work should assess the prognostic value of the observed damage. Hum Brain Mapp 36:1609-1619, 2015. © 2014 Wiley Periodicals, Inc.

Assessing Recent Selection and Functionality at Long Noncoding RNA Loci in the Mouse Genome.

Long noncoding RNAs (lncRNAs) are one of the most intensively studied groups of noncoding elements. Debate continues over what proportion of lncRNAs are functional or merely represent transcriptional noise. Although characterization of individual lncRNAs has identified approximately 200 functional loci across the Eukarya, general surveys have found only modest or no evidence of long-term evolutionary conservation. Although this lack of conservation suggests that most lncRNAs are nonfunctional, the possibility remains that some represent recent evolutionary innovations. We examine recent selection pressures acting on lncRNAs in mouse populations. We compare patterns of within-species nucleotide variation at approximately 10,000 lncRNA loci in a cohort of the wild house mouse, Mus musculus castaneus, with between-species nucleotide divergence from the rat (Rattus norvegicus). Loci under selective constraint are expected to show reduced nucleotide diversity and divergence. We find limited evidence of sequence conservation compared with putatively neutrally evolving ancestral repeats (ARs). Comparisons of sequence diversity and divergence between ARs, protein-coding (PC) exons and lncRNAs, and the associated flanking regions, show weak, but significantly lower levels of sequence diversity and divergence at lncRNAs compared with ARs. lncRNAs conserved deep in the vertebrate phylogeny show lower within-species sequence diversity than lncRNAs in general. A set of 74 functionally characterized lncRNAs show levels of diversity and divergence comparable to PC exons, suggesting that these lncRNAs are under substantial selective constraints. Our results suggest that, in mouse populations, most lncRNA loci evolve at rates similar to ARs, whereas older lncRNAs tend to show signals of selection similar to PC genes.

A prospective evaluation of ultrasound as a diagnostic tool in acute microcrystalline arthritis.

INTRODUCTION: The performance of ultrasound (US) in the diagnosis of acute gouty (MSU) arthritis and calcium pyrophosphate (CPP) arthritis is not yet well defined. Most studies evaluated US as the basis for diagnosing crystal arthritis in already diagnosed cases of gout and few prospective studies have been performed. METHODS: One hundred nine consecutive patients who presented an acute arthritis of suspected microcrystalline arthritis were prospectively included. All underwent an US of the symptomatic joints(s) and of knees, ankles and 1(st) metatarsopalangeal (MTP) joints by a rheumatologist "blinded" to the clinical history. 92 also had standard X-rays. Crystal identification was the gold standard. RESULTS: Fifty-one patients had MSU, 28 CPP and 9 had both crystals by microscopic analysis. No crystals were detected in 21. One had septic arthritis. Based on US signs in the symptomatic joint, the sensitivity of US for both gout and CPP was low (60 % for both). In gout, the presence of US signs in the symptomatic joint was highly predictive of the diagnosis (PPV = 92 %). When US diagnosis was based on an examination of multiple joints, the sensitivity for both gout and CPP rose significantly but the specificity and the PPV decreased. In the absence of US signs in all the joints studied, CPP arthritis was unlikely (NPV = 87 %) particularly in patients with no previous crisis (NPV = 94 %). X-ray of the symptomatic joints was confirmed to be not useful in diagnosing gout and was equally sensitive or specific as US in CPP arthritis. CONCLUSIONS: Arthrocenthesis remains the key investigation for the diagnosis of microcrystalline acute arthritis. Although US can help in the diagnostic process, its diagnostic performance is only moderate. US should not be limited to the symptomatic joint. Examination of multiple joints gives a better diagnostic sensitivity but lower specificity.

Brief cognitive assessment instruments in schizophrenia and bipolar patients, and healthy control subjects: A comparison study between the Brief Cognitive Assessment Tool for Schizophrenia (B-CATS) and the Screen for Cognitive Impairment in Psychiatry (SCIP)

Cognitive impairment in schizophrenia and psychosis is ubiquitous and acknowledged as a core feature of clinical expression, pathophysiology, and prediction of functioning. However, assessment of cognitive functioning is excessively time-consuming in routine practice, and brief cognitive instruments specific to psychosis would be of value. Two screening tools have recently been created to address this issue, i.e., the Brief Cognitive Assessment Tool for Schizophrenia (B-CATS) and the Screen for Cognitive Impairment in Psychiatry (SCIP). The aim of this research was to examine the comparative validity of these two brief instruments in relation to a global cognitive score. 161 patients with psychosis (96 patients diagnosed with schizophrenia and 65 patients diagnosed with bipolar disorder) and 76 healthy control subjects were tested with both instruments to examine their concurrent validity relative to a more comprehensive neuropsychological assessment battery. Scores from the B-CATS and the SCIP were highly correlated in the three diagnostic groups, and both scales showed good to excellent concurrent validity relative to a Global Cognitive Composite Score (GCCS) derived from the more comprehensive examination. The SCIP-S showed better predictive value of global cognitive impairment than the B-CATS. Partial and semi-partial correlations showed slightly higher percentages of both shared and unique variance between the SCIP-S and the GCCS than between the B-CATS and the GCCS. Brief instruments for assessing cognition in schizophrenia and bipolar disorders, such as the SCIP-S and B-CATS, seem to be reliable and promising tools for use in routine clinical practice.

WWW-pohjainen opintojensuunnittelutyökalu

Opintojenohjauksen tarve on kasvanut viime vuosien aikana suomalaisissa yliopistoissa. Kasvaneet valintamahdollisuudet ovat monimutkaistaneet tutkintorakenteita ja tätä kautta opiskelijoiden saaman henkilökohtaisen opintojensuunnittelun tarve on korostunut. Yliopistoilla on kuitenkin käytössään rajalliset resurssit opintojen ohjaukseen, joten ohjausta pyritään tehostamaan mutta samalla säilyttämään palvelun laatu. Tarkempi ja yksityiskohtaisempi ohjeistaminen ja opintosuunnitelmien mallipohjat ovat auttaneet opiskelijoiden tehtävää. Samalla opiskelijoilta on alettu vaatia henkilökohtaisen suunnitelman laatiminen jo opintojen alkuvaiheessa. Tässä diplomityössä on toteutettu tutkintorakenteeseen perustuva WWW-pohjainen opintojensuunnittelutyökalu. Järjestelmän toiminta perustuu relaatiotietokantaan mallinnettuun tutkintorakennetietoon ja sen hyödyntämiseen. Opiskelijat voivat käyttää tätä tietoa laatiessaan opintosuunnitelmiaan ja opintosuunnittelijat tarkastaessaan opiskelijoiden suunnitelmia. Järjestelmän avulla opintojensuunnittelua ja sen ohjaamista voidaan tehostaa ja samalla opiskelijoille voidaan tarjota keskitetty tietovarasto opintosuunnitelmansa säilyttämiseen ja ylläpitoon. Työn tuloksena toteutettu järjestelmä julkaistiin Lappeenrannan teknillisen yliopiston tietotekniikan opiskelijoiden käyttöön keväällä 2005. Kerätyn saadun palautteen perusteella voidaan sanoa, että tämäntyyppiselle palvelulle osana yliopiston tarjoamaa opintojen ohjausta on olemassa oikea tarve.

Accessory phases as a tool to investigate magmatic underplating in polymetamorphic metasediments : an example from a fossil lower crust : Ivrea Verbano zne, NW Italy

The Ivrea and the Strona-Ceneri zones, NW italy and S Switzerland, offer the possibility to study the continental crust of the Southern Alps. Because of its high metamorphic degree and the abundant Permo- Carboniferous mafic intrusions, the Ivrea Zone is classically interpreted an exposed section trough the Permian lower crust. The present work is focused here on metasedimentary slices (septa) intercalated within Permian gabbro (mafic complex). In particular I studied the evolution of accessory phases such as rutile and zircon and the chemistry of the metasediments. The septa build an irregular and discontinuous band that cut obliquely the mafic complex from its deepest part (N) to its roof (S). The chemistry of the metasediments evolves along the band and the chemical evolution can be compared with that observed in the country-rock surrounding the mafic intrusion to the NE and overprinted by a main regional metamorphic event. This suggests that the degree of chemical depletion of the septa was mainly established during the same regional metamorphic event. Moreover it suggests that incorporation of the septa within the gabbro did not modify their original stratigraphie distribution within the crust. It implies that the mafic complex has been emplaced following a dynamic substantially different from the classic model of « gabbro glacier » (Quick et al., 1992; Quick et al., 1994). It is more likely that it has been emplaced by repeated injections of sills at different depths during a protracted period of time. Zircon trace elements and U-Pb ages suggest that regional metamorphism occurred 330-320Ma, the first sills in the deepest part of the Mafic Complex are injected at ~300Ma, the mafic magmas reached higher levels in the crust at 285Ma and the magmatic activity continued locally until 275Ma. The ages of detrital cores in zircons fix the maximal sedimentation age at ~370Ma, this age corresponds therefore with the maximal age of the incorporation of the Ivrea zone within the lower crust. I propose that the Ivrea zone has been accreted to the lower crust during the Hercynian orogeny sensu lato. The analysis of detrital ages suggests that the source terrains for the Ivrea zone and those for the Strona-Ceneri zone have a completely different Palaeozoic history. The systematic analysis of rutile in partially molten metasediments of the Ivrea zone reveals the occurrence of two generations. The two generations are characterized by a different chemistry and textural distribution. A first generation is formed during pro-grade metamorphism in the restitic counterpart. The second generation is formed in the melts during cooling at the same time that part of the first generation re-equilibrate. Re-equilibration of the first generation seems to be spatially controlled by the presence of fluids. Locally the second generation forms overgrowths on the first generation. Considered the different diffusivity of U and Pb in rutile, U heterogeneities have important implication for U-Pb dating of rutile. ID-TIMS and LA-ICPMS dating coupled with a careful textural investigation (SEM) suggest that rutile grains are characterized by multiple path along which Pb diffusion can occur: volume diffusion is an important process, but intragrain and subgrain boundaries provide additional high diffusivity pathways for Pb escape and reduce drastically the effective diffusion length. -- La zone d'Ivrea et la zone de Strona-Ceneri, en Italie nord-occidentale et Suisse méridionale, offrent la possibilité d'étudier la croûte continentale des Alpes du Sud. En raison du haut degré métamorphique et l'abondance d'intrusions mafiques d'âge Permo-Carbonifère [complexe mafique), la zone d'Ivrea est interprétée classiquement comme de la croûte inférieure permienne. Ce travail ce concentre sur des bandes metasédimentaires (septa) incorporées dans les magmas mafiques lors de l'intrusion. Les septa forment une bande irrégulière qui coupe obliquement le complexe mafique du bas (N) vers le haut (S). La chimie des septa évolue du bas vers le haut et l'évolution chimique se rapproche de l'évolution observé dans la roche encaissante l'intrusion affecté par un événement métamorphique régionale. Cette relation suggère que le degré d'appauvrissement chimique des septa a été établit principalement lors de l'événement métamorphique régional. De plus l'incorporation dans les gabbros n'a pas perturbée la distribution stratigraphique originelle des septa. Ces deux observations impliquent que le métamorphisme dans la roche encaissante précède la mise en place du gabbro et que cette dernière ne se fait pas selon le modèle classique (« gabbro glacier » de Quick et al., 1992, 1994), mais se fait plutôt par injections répétées de sills a différentes profondeurs. Les âges U-Pb et les éléments traces des zircons suggèrent que le métamorphisme régionale a eu lieu 330-320Ma, alors que les premiers sills dans la partie profonde du Mafic Complex s'injectent à ~300Ma, le magmatisme mafique atteigne des niveaux supérieurs à 285Ma et continue localement jusqu'à 270Ma. Les âges des coeurs détritiques des zircons permettent de fixer l'âge maximale de sédimentation à ~370Ma ce qui correspond donc à l'âge maximale de l'incorporation de la zone d'Ivrea dans la croûte inférieur. L'analyse systématique des rutiles, nous a permit de montrer l'existence de plusieurs générations qui ont une répartition texturale et une chimie différente. Une génération se forme lors de l'événement UHT dans les restites, une autre génération se forme dans les liquides lors du refroidissement, au même temps qu'une partie de la première génération se rééquilibre au niveau du Zr. Localement la deuxième génération peut former des surcroissances autour de la première génération. Dans ces cas, des fortes différences en uranium entre les deux générations ont des importantes implications pour la datation U-Pb sur rutile. Classiquement les ratios Pb/U dans le rutile sont interprétés comme indiquant l'âges du refroidissement du minéral sous une température à la quelle la diffusion du Pb dans le minéral n'est plus détectable et la diffusion à plus hautes températures est assumée se faire par «volume diffusion» dans le grain (Mezger et al., 1989). Par des datations ID-TIMS (sur grain entier) et LA-ICPMS (in-situ) et une analyse texturale (MEB) approfondie nous montrons que cette supposition est trop simpliste et que le rutile est repartie en sous-domaines. Chacun de ces domaines a ça propre longueur ou chemin de diffusion spécifique. Nous proposons donc une nouvelle approche plus cohérente pour l'interprétation des âges U-Pb sur rutile.

Test automation of digital mammography device

Testing of a complex software is time consuming. Automated tools are available quite a lot for desktop applications, but for embedded systems a custom-made tool is required Building a complete test framework is a complicated task. Therefore, the test platform was built on top of an already existing tool, CANoe. CANoe is a tool for CAN bus analysis and node simulation. The functionality of CANoe was extended with LabVIEW DLL. The LabVIEW software was used for simulating hardware components of the embedded device As a result of the study, a platform was created where tests could be automated. Of the current test plan, 10 percent were automated and up to 60 percent could be automated with the current functionality.

The motivation to learn as a self-presentation tool among Swiss high school students : The moderating role of mastery goals' perceived social value on learning

Although it has been assumed that the motivation to learn - or mastery goal endorsement - positively predicts learning achievement, most empirical findings fail to demonstrate this relationship. In the present research, conducted in a Swiss high school, we adopted a social value approach to test the hypothesis that adolescent students' mastery goals do in fact predict learning, but only if these goals are perceived as highly useful for scholarly success (high social utility), and are not endorsed as a means to be appreciated by the teachers (low social desirability), a finding that has previously been observed among college students and on teacher-graded achievement measures only. Results demonstrate that in spite of potential peculiarities of an adolescent population, individual differences in mastery goals' perceived social utility and desirability moderate the mastery goal endorsement-learning achievement relation. Findings are discussed with regard to both theory development and educational practice.

Prototype of a web-based participative decision support platform in natural hazards and risk management

This paper presents the current state and development of a prototype web-GIS (Geographic Information System) decision support platform intended for application in natural hazards and risk management, mainly for floods and landslides. This web platform uses open-source geospatial software and technologies, particularly the Boundless (formerly OpenGeo) framework and its client side software development kit (SDK). The main purpose of the platform is to assist the experts and stakeholders in the decision-making process for evaluation and selection of different risk management strategies through an interactive participation approach, integrating web-GIS interface with decision support tool based on a compromise programming approach. The access rights and functionality of the platform are varied depending on the roles and responsibilities of stakeholders in managing the risk. The application of the prototype platform is demonstrated based on an example case study site: Malborghetto Valbruna municipality of North-Eastern Italy where flash floods and landslides are frequent with major events having occurred in 2003. The preliminary feedback collected from the stakeholders in the region is discussed to understand the perspectives of stakeholders on the proposed prototype platform.

Validity of silhouette showcards as a measure of body size and obesity in a population in the African region : a practical research tool for general-purpose surveys.

BACKGROUND: The purpose of this study is to validate the Pulvers silhouette showcard as a measure of weight status in a population in the African region. This tool is particularly beneficial when scarce resources do not allow for direct anthropometric measurements due to limited survey time or lack of measurement technology in face-to-face general-purpose surveys or in mailed, online, or mobile device-based surveys. METHODS: A cross-sectional study was conducted in the Republic of Seychelles with a sample of 1240 adults. We compared self-reported body sizes measured by Pulvers' silhouette showcards to four measurements of body size and adiposity: body mass index (BMI), body fat percent measured, waist circumference, and waist to height ratio. The accuracy of silhouettes as an obesity indicator was examined using sex-specific receiver operator curve (ROC) analysis and the reliability of this tool to detect socioeconomic gradients in obesity was compared to BMI-based measurements. RESULTS: Our study supports silhouette body size showcards as a valid and reliable survey tool to measure self-reported body size and adiposity in an African population. The mean correlation coefficients of self-reported silhouettes with measured BMI were 0.80 in men and 0.81 in women (P < 0.001). The silhouette showcards also showed high accuracy for detecting obesity as per a BMI ≥ 30 (Area under curve, AUC: 0.91/0.89, SE: 0.01), which was comparable to other measured adiposity indicators: fat percent (AUC: 0.94/0.94, SE: 0.01), waist circumference (AUC: 0.95/0.94, SE: 0.01), and waist to height ratio (AUC: 0.95/0.94, SE: 0.01) amongst men and women, respectively. The use of silhouettes in detecting obesity differences among different socioeconomic groups resulted in similar magnitude, direction, and significance of association between obesity and socioeconomic status as when using measured BMI. CONCLUSIONS: This study highlights the validity and reliability of silhouettes as a survey tool for measuring obesity in a population in the African region. The ease of use and cost-effectiveness of this tool makes it an attractive alternative to measured BMI in the design of non-face-to-face online- or mobile device-based surveys as well as in-person general-purpose surveys of obesity in social sciences, where limited resources do not allow for direct anthropometric measurements.