The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. Bony enlargement at the interphalangeal joints progresses leading to camptodactyly. Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. The femoral heads are large and the acetabulum forms a distinct "lip" overriding the femoral head. There is a progressive narrowing of all articular spaces as articular cartilage is lost. Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. Subsequent knee joint replacement is a further option. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases in our series. Intronic mutations in WISP3 leading to splicing aberrations can be detected only in cDNA from fibroblasts and therefore a skin biopsy is indicated when genomic analysis fails to reveal mutations in individuals with otherwise typical signs and symptoms. In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti-inflammatory and immunosuppressive treatments. Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis. © 2012 Wiley Periodicals, Inc.

The Possibilities of IP Networks in Strategic Partnership Development

This study focuses on the status of using the Internet in partnership development. The aim is to find out howthe parties in partnership can benefit from the available data networks (the Internet, Intranet and Extranet). The study also explains what the typical practices at the moment are and what features might be exploitable in the future. The research problem is to find out whether there are any possibilities to utilize the web more than is done at the moment. This study is a preliminary study for a more extensive study on the topic 'Information Technology in Business Relationships'.

Clinical features for diagnosis of pneumonia in children younger than 5 years: a systematic review and meta-analysis.

BACKGROUND: Pneumonia is the biggest cause of deaths in young children in developing countries, but early diagnosis and intervention can effectively reduce mortality. We aimed to assess the diagnostic value of clinical signs and symptoms to identify radiological pneumonia in children younger than 5 years and to review the accuracy of WHO criteria for diagnosis of clinical pneumonia. METHODS: We searched Medline (PubMed), Embase (Ovid), the Cochrane Database of Systematic Reviews, and reference lists of relevant studies, without date restrictions, to identify articles assessing clinical predictors of radiological pneumonia in children. Selection was based on: design (diagnostic accuracy studies), target disease (pneumonia), participants (children aged <5 years), setting (ambulatory or hospital care), index test (clinical features), and reference standard (chest radiography). Quality assessment was based on the 2011 Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) criteria. For each index test, we calculated sensitivity and specificity and, when the tests were assessed in four or more studies, calculated pooled estimates with use of bivariate model and hierarchical summary receiver operation characteristics plots for meta-analysis. FINDINGS: We included 18 articles in our analysis. WHO-approved signs age-related fast breathing (six studies; pooled sensitivity 0·62, 95% CI 0·26-0·89; specificity 0·59, 0·29-0·84) and lower chest wall indrawing (four studies; 0·48, 0·16-0·82; 0·72, 0·47-0·89) showed poor diagnostic performance in the meta-analysis. Features with the highest pooled positive likelihood ratios were respiratory rate higher than 50 breaths per min (1·90, 1·45-2·48), grunting (1·78, 1·10-2·88), chest indrawing (1·76, 0·86-3·58), and nasal flaring (1·75, 1·20-2·56). Features with the lowest pooled negative likelihood ratio were cough (0·30, 0·09-0·96), history of fever (0·53, 0·41-0·69), and respiratory rate higher than 40 breaths per min (0·43, 0·23-0·83). INTERPRETATION: Not one clinical feature was sufficient to diagnose pneumonia definitively. Combination of clinical features in a decision tree might improve diagnostic performance, but the addition of new point-of-care tests for diagnosis of bacterial pneumonia would help to attain an acceptable level of accuracy. FUNDING: Swiss National Science Foundation.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.

Moment Operators of Observables in Quantum Mechanics, with Applications to Quantization and Homodyne Detection

The questions studied in this thesis are centered around the moment operators of a quantum observable, the latter being represented by a normalized positive operator measure. The moment operators of an observable are physically relevant, in the sense that these operators give, as averages, the moments of the outcome statistics for the measurement of the observable. The main questions under consideration in this work arise from the fact that, unlike a projection valued observable of the von Neumann formulation, a general positive operator measure cannot be characterized by its first moment operator. The possibility of characterizing certain observables by also involving higher moment operators is investigated and utilized in three different cases: a characterization of projection valued measures among all the observables is given, a quantization scheme for unbounded classical variables using translation covariant phase space operator measures is presented, and, finally, a mathematically rigorous description is obtained for the measurements of rotated quadratures and phase space observables via the high amplitude limit in the balanced homodyne and eight-port homodyne detectors, respectively. In addition, the structure of the covariant phase space operator measures, which is essential for the above quantization, is analyzed in detail in the context of a (not necessarily unimodular) locally compact group as the phase space.

Päästökauppa murrosvaiheessa

Tässä diplomityössä selvitetään EU:n alueella ja erityisesti Suomessa vuoden 2005 alusta alkavaa hiilidioksidin päästökauppaa. Työssä käsitellään päästökaupan tulevia vaikutuksia energia-, metalli- ja metsäteollisuuden kannalta. Myös kansantaloudelliset sekä kokonaistaloudelliset vaikutukset ovat mielenkiinnon kohteena. Työ koskee joiltakin osin myös ilmastonmuutoksen hillintää yleisesti ja ns. Kioton mekanismeja. Työn kuluessa pyritään myös ennakoimaan tulevan päästökaupan volyymia ja päästöyksikön eli hiilidioksiditonnin hintaa, joka on suurimpia epävarmuustekijöitä koko prosessissa. Tulevaa päästökauppaa tarkastellaan myös päästökauppadirektiivin, päästökauppalain ja muiden sitä koskevien lakien säännösten ja määräysten luomassa toimintakehikossa. Työn nimi "Päästökauppa murrosvaiheessa" kuvastaa täten myös sitä, että tarkastelussa ei pyritä välttämättä lopullisiin ja varmoihin tai tarkkoihin arvioihin, koska se on käytännössä mahdotonta. Työn painopiste onkin meneillään olevan päästökaupan valmistelun selvittely monimuotoisena prosessina, jolloin tämän prosessin kuvaus on suurelta osin tässä vaiheessa myös kvalitatiivista. Päästökaupan tulosten ja vaikutusten seuranta jatkossa puolestaan olisi mitä mielenkiintoisin jatkotutkimuksen aihe. Työtä havainnollistetaan kolmella käytännön case -esityksellä, jotka käsittelevät energiayritystä, kattila- ja laitetoimittajaa sekä metsäteollisuuden voimalaitosta, ja niiden varautumista alkavaan päästökauppaan.

Contact Center Functionality - Collecting and Prioritizing Features of Modern Contact Center.

Tässä diplomityössä pohditaan call centereiden asemaa tämän päivän palveluympäristössä ja myöskin call centereiden tulevaisuutta contact centereinä. Tämä työ tutkii kuinka asiakastarpeita ja uusia toiminnallisuuksia voidaan etsiä olemassaolevaan, mutta vielä keskeneräiseen call center tuotteeseen. Tutkimus on tehty lukemalla artikkeleita ja kirjoja tulevaisuuden contact centereistä, haastattelemalla asiakkaita ja järjestämällä ideointisessio yrityksen asiantuntijoille. Näin saadut tulokset priorisoitiin tätä tarkoitusta varten kehitellyllä matriisilla. Lopullisena tuloksena on lista toiminnallisuuksista tärkeysjärjestyksessä ja tuote roadmap kaikkein tärkeimmistä toiminnallisuuksista. Tämä roadmap antaa tuotekehitykselle ehdotuksen mitä tulisi implementoida nykyiseen tuotteeseen ja mitkä ovat prioriteetit. Tässä työssä pohdiskellaan myös tuotteen modulaarista rakennetta.

RF Field Immunity of a Network Terminating Unit at Over One Gigaherz Frequencies

Työssä tutkitaan telepäätelaitteen yli gigahertsin taajuisen säteilevän RF kentän sietoisuutta. Mittauksissa testattava laite on Tellabs Oy:n valmistaman CTU modeemin tuotekehitysversio. Teoriaosassa käydään läpi sähkömagneettisten aaltojen teoriaa, sekä säteilevän RF kentän aiheuttamien sähkömagneettiset häiriöiden syntymekanismeja. Myös säteilevien häiriöiden EMC mittauksiin tarvittavien mittalaitteiden tärkeimmät ominaisuudet esitellään, sekä pohditaan yli gigahertsin taajuuksille sopivien EMC mittalaitteiden vaatimuksia. EMC standardit eivät tällä hetkellä aseta vaatimuksia telelaitteiden RF kentän sietoisuudelle yli gigahertsin taajuudella. Tämän vuoksi työssä käsitellään myös todennäköisimpiä häiriölähteitä tällä taajuusalueella. Mittauksissa tutkittiin CTU:n RF kentän sietoisuutta taajuusalueella l - 4.2 GHz. Mittaukset suoritettiin sekä radiokaiuttomassa kammiossa että GTEM solussa. Myös metallisten lisäsuojien vaikutusta CTU:n kentänsietoisuuteen tutkittiin GTEM solussa.

Low-ARPU mobile offering in the selected markets of Russia and Eurasia

Tutkimuksen tavoitteena on analysoida alhaisen tuloluokan segmentille kohdennettavaa mobiilituotetarjoomaa lähtien kohdesegmenttien määrittelystä aina suositeltavien tuoteominaisuuksien rajaamiseen. Taustatutkimuksen avulla selvitetään mobiilimarkkinoiden kehitykseen vaikuttavia tekijöitä asiakaspotentiaalin ja tulevaisuudennäkymien arvioimiseksi. Haastattelututkimuksen avulla on selvitetty kohdesegmentin mobiilipalvelujen tarvetta ja kyseisten markkinoiden tarjoamia mahdollisuuksia, jotta tähän tarpeeseen voidaan kannattavasti vastata. Mobiilipalveluiden saattamiseksi myös alhaisten tuloluokkien ulottuville, on loppuasiakkaalle mobiililiittymän hankkimisesta aiheutuva kokonaiskustannus saatava laskettua huomattavasti nykyistä alhaisemmalle tasolle. Tämä edellyttää, että operaattorin on voitava karsia omia kustannuksiaan jokaisella osa-alueella, ja kehitettävä uusia liiketoimintamalleja kannattavuuden säilyttämiseksi. Pohjimmiltaan tämä tarkoittaa sujuvaa yhteistyötä verkkojen ja mobiilipuhelinten valmistajien kanssa, huolellista markkinoiden segmentointia sekä tuotetarjooman kohdentamista.

Aberrant features of the Messinian coral reefs, Spain

Se describen someramente los principales arrecifes del Messiniense en España, haciendo hincapié en el conjunto de 'anomalias' presentan los arrecifes del Neógeno inferior en comparación con las asociaciones arrecifales actuales. Se discute la importancia y significado de Porites sp. como coral claramente dominante, y a menudo exclusivo, en la construcción de edificios arrecifales.

Investigating Neuroanatomical Features in Top Athletes at the Single Subject Level.

In sport events like Olympic Games or World Championships competitive athletes keep pushing the boundaries of human performance. Compared to team sports, high achievements in many athletic disciplines depend solely on the individual's performance. Contrasting previous research looking for expertise-related differences in brain anatomy at the group level, we aim to demonstrate changes in individual top athlete's brain, which would be averaged out in a group analysis. We compared structural magnetic resonance images (MRI) of three professional track-and-field athletes to age-, gender- and education-matched control subjects. To determine brain features specific to these top athletes, we tested for significant deviations in structural grey matter density between each of the three top athletes and a carefully matched control sample. While total brain volumes were comparable between athletes and controls, we show regional grey matter differences in striatum and thalamus. The demonstrated brain anatomy patterns remained stable and were detected after 2 years with Olympic Games in between. We also found differences in the fusiform gyrus in two top long jumpers. We interpret our findings in reward-related areas as correlates of top athletes' persistency to reach top-level skill performance over years.

The relative salience of facial features when differentiating faces based on an interference paradigm

Research on face recognition and social judgment usually addresses the manipulation of facial features (eyes, nose, mouth, etc.). Using a procedure based on a Stroop-like task, Montepare and Opeyo (J Nonverbal Behav 26(1):43-59, 2002) established a hierarchy of the relative salience of cues based on facial attributes when differentiating faces. Using the same perceptual interference task, we established a hierarchy of facial features. Twenty-three participants (13 men and 10 women) volunteered for the experiment to compare pairs of frontal faces. The participants had to judge if the eyes, nose, mouth and chin in the pair of images were the same or different. The factors manipulated were the target-distractive factor (4 face components 9 3 distractive factors), interference (absent vs. present) and correct answer (the same vs. different). The analysis of reaction times and errors showed that the eyes and mouth were processed before the chin and nose, thus highlighting the critical importance of the eyes and mouth, as shown by previous research.

Identification of Methylated Genes Associated with Aggressive Clinicopathological Features in Mantle Cell Lymphoma

Background: Mantle cell lymphoma (MCL) is genetically characterized by the t(11;14)(q13;q32) translocation and a high number of secondary chromosomal alterations. The contribution of DNA methylation to MCL lymphomagenesis is not well known. We sought to identify epigenetically silenced genes in these tumours that might have clinical relevance. Methodology/Principal Findings: To identify potential methylated genes in MCL we initially investigated seven MCL cell lines treated with epigenetic drugs and gene expression microarray profiling. The methylation status of selected candidate genes was validated by a quantitative assay and subsequently analyzed in a series of primary MCL (n=38). After pharmacological reversion we identified 252 potentially methylated genes. The methylation analysis of a subset of these genes (n=25) in the MCL cell lines and normal B lymphocytes confirmed that 80% of them were methylated in the cell lines but not in normal lymphocytes. The subsequent analysis in primary MCL identified five genes (SOX9,HOXA9,AHR,NR2F2 ,and ROBO1) frequently methylated in these tumours. The gene methylation events tended to occur in the same primary neoplasms and correlated with higher proliferation, increased number of chromosomal abnormalities, and shorter survival of the patients. Conclusions: We have identified a set of genes whose methylation degree and gene expression levels correlate with aggressive clinicopathological features of MCL. Our findings also suggest that a subset of MCL might show a CpG island methylator phenotype (CIMP) that may influence the behaviour of the tumours.