Low bone mass in juvenile onset sclerosis systemic: the possible role for 25-hydroxyvitamin D insufficiency

Juvenile onset systemic sclerosis (JoSSc) is a rare disease, and there are no studies focusing in bone mineral density and biochemical bone parameters. Ten consecutive patients with JoSSc and 10 controls gender, age, menarche age, and physical activity matched were selected. Clinical data were obtained at the medical visit and chart review. Laboratorial analysis included autoantibodies, 25-hydroxyvitamin D (25OHD), intact parathyroid hormone, calcium, phosphorus, alkaline phosphatase and albumin sera levels. Bone mineral density was analyzed by dual-energy X-ray absorptiometry, and bone mineral apparent density (BMAD) was calculated. A lower BMAD in femoral neck (0.294 +/- A 0.060 vs. 0.395 +/- A 0.048 g/cm(3), P = 0.001) and total femur (0.134 +/- A 0.021 vs. 0.171 +/- A 0.022 g/cm(3), P = 0.002) was observed in JoSSc compared to controls. Likewise, a trend to lower BMAD in lumbar spine (0.117 +/- A 0.013 vs. 0.119 +/- A 0.012 g/cm(3), P = 0.06) was also found in these patients. Serum levels of 25OHD were significantly lower in JoSSc compared to controls (18.1 +/- A 6.4 vs. 25.1 +/- A 6.6 ng/mL, P = 0.04), and all patients had vitamin D insufficiency (< 20 ng/mL) compared to 40% of controls (P = 0.01). All other biochemical parameters were within normal range and alike in both groups. BMAD in femoral neck and total femur was correlated with 25OHD levels in JoSSc (r = 0.82, P = 0.004; r = 0.707, P = 0.02; respectively). We have identified a remarkable high prevalence of 25OHD insufficiency in JoSSc. Its correlation with hip BMAD suggests a causal effect and reinforces the need to incorporate this hormone evaluation in this disease management.

Improved accuracy of co-morbidity coding over time after the introduction of ICD-10 administrative data.

BACKGROUND: Co-morbidity information derived from administrative data needs to be validated to allow its regular use. We assessed evolution in the accuracy of coding for Charlson and Elixhauser co-morbidities at three time points over a 5-year period, following the introduction of the International Classification of Diseases, 10th Revision (ICD-10), coding of hospital discharges.METHODS: Cross-sectional time trend evaluation study of coding accuracy using hospital chart data of 3'499 randomly selected patients who were discharged in 1999, 2001 and 2003, from two teaching and one non-teaching hospital in Switzerland. We measured sensitivity, positive predictive and Kappa values for agreement between administrative data coded with ICD-10 and chart data as the 'reference standard' for recording 36 co-morbidities.RESULTS: For the 17 the Charlson co-morbidities, the sensitivity - median (min-max) - was 36.5% (17.4-64.1) in 1999, 42.5% (22.2-64.6) in 2001 and 42.8% (8.4-75.6) in 2003. For the 29 Elixhauser co-morbidities, the sensitivity was 34.2% (1.9-64.1) in 1999, 38.6% (10.5-66.5) in 2001 and 41.6% (5.1-76.5) in 2003. Between 1999 and 2003, sensitivity estimates increased for 30 co-morbidities and decreased for 6 co-morbidities. The increase in sensitivities was statistically significant for six conditions and the decrease significant for one. Kappa values were increased for 29 co-morbidities and decreased for seven.CONCLUSIONS: Accuracy of administrative data in recording clinical conditions improved slightly between 1999 and 2003. These findings are of relevance to all jurisdictions introducing new coding systems, because they demonstrate a phenomenon of improved administrative data accuracy that may relate to a coding 'learning curve' with the new coding system.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

OBJECTIVE: To report the study of a multigenerational Swiss family with dopa-responsive dystonia (DRD). METHODS: Clinical investigation was made of available family members, including historical and chart reviews. Subject examinations were video recorded. Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis. RESULTS: We evaluated 32 individuals, of whom 6 were clinically diagnosed with DRD, with childhood-onset progressive foot dystonia, later generalizing, followed by parkinsonism in the two older patients. The response to levodopa was very good. Two additional patients had late onset dopa-responsive parkinsonism. Three other subjects had DRD symptoms on historical grounds. We found suggestive linkage to the previously reported DYT14 locus, which excluded GCH1. However, further study with more stringent criteria for disease status attribution showed linkage to a larger region, which included GCH1. No mutation was found in GCH1 by gene sequencing but dosage methods identified a novel heterozygous deletion of exons 3 to 6 of GCH1. The mutation was found in seven subjects. One of the patients with dystonia represented a phenocopy. CONCLUSIONS: This study rules out the previously reported DYT14 locus as a cause of disease, as a novel multiexonic deletion was identified in GCH1. This work highlights the necessity of an accurate clinical diagnosis in linkage studies as well as the need for appropriate allele frequencies, penetrance, and phenocopy estimates. Comprehensive sequencing and dosage analysis of known genes is recommended prior to genome-wide linkage analysis.

The Visual Dysphagia Questionnaire: Evaluating the first Tool for Assessing Food Consistency-Dependent Dysphagia in Eosinophilic Esophagitis

Background and Aims: The international EEsAI study group iscurrently developing the first a ctivity index specific forEosinophilic Esophagitis (EoE). None of the existing dysphagiaquestionnaires take into account the consistency of theingested food t hat considerably impacts the symptompresentation. Goal: To d evelop and evaluate an E oE-specificquestionnaire assessing dysphagia caused by foods of differentconsistencies.Methods: B ased on patient interviews and chart reviews, a nexpert panel ( EEsAI study g roup) identified internationallystandardizedfood prototypes t ypically a ssociated with EoErelateddysphagia. Food consistencies were c orrelated withEoE-related d ysphagia, t aking into account p otential f oodavoidance and f ood processing. This V isual D ysphagiaQuestionnaire (VDQ) was piloted in 20 patients and is currentlyevaluated in a cohort of 150 adult EoE patients.Results: T he following 8 food c onsistency prototypes w ereidentified: soft foods (pudding, jelly), grits, toast bread, Frenchfries, dry rice, ground meat, raw fibrous f oods (eg. apple,carrot), s olid m eat. Dysphagia was r anked o n a 4-point Likertscale (0=no difficulties; 3= severe difficulties, food will not pass).First analysis demonstrated that severity of dysphagia is relatedto the eosinophil load and presence of esophageal strictures.Conclusions: T he VDQ i s the first EoE-specific tool f orassessing dysphagia caused by i nternationally-standardizedfoods of different consistencies. This instrument also addressesfood avoidance behaviour and food processing habits. This toolperformed well in a p ilot study a nd is currently evaluated in acohort of 150 adult EoE patients.

UBVRI photoelectric photometry of nearby stars. II.

A second set of UBVRI photometry results for nearby stars of Gliese's (1969) catalog and its supplements, including in this case some multiple systems, are presented. Most of the observations were carried out between July 1984 and December 1985 at Calar Alto with the 1.23-m Centro Astronomico Hispano-Aleman telescope and the 1.52-m Observatorio Astronomico Nacional telescope. The number of observations of program and standard stars for the six runs and the final results for 60 stars are presented.

UBVRI photoelectric photometry of nearby stars

In order to complete the photometric data of the Gliese (1969) 'Catalog of Nearby Stars', and in addition use these data for the Hipparcos space astrometry mission, program stars have been selected from the catalog and its supplements on the basis of their having an incomplete set of UBVRI photometric data of magnitude lower than 13. The program developed rejects determinations of any magnitude or color index having a residual greater than 2(sigma-prime), where sigma-prime is the standard deviation for the determinations of unit weight.

Analysis of IRAS stellar sources in Alpha Persei region

The present study is an analysis of IR sources in the Alpha Persei open cluster region from the IRAS Point Source Catalog and from ground-based photometric observations. Cross-identification between stars in the region and IRAS Point Source Catalog was performed and nine new associations were found. BVRI Johnson photometry for 24 of the matched objects have been carried out. Physical identity of visual and IRAS sources and relationship to the Alpha Persei open cluster are discussed.

Catalogación y valoración de las webquests desde el área de educación física y el tratamiento de temáticas transversales

Gears of the current millennium have been activated by the hit entry into the information society that has generated a whole range of social and educational changes, it is difficult to stay out of their influence, such as: the dizzying presence of new technologies (NNTT) and the entrenchment of a crisis of values. Physical education has been affected by this avalanche of developments that have sparked the birth of original teaching and learning tools that can be applied in the classroom. In this sense, WebQuests have been configured as a unifying and educational activities that allow addressing the treatment of specific thematic area that we are dealing with the work of certain cross¿cutting. But how do you know what product we have before us, what is its effectiveness? What criteria will allow us to classify it as a fit and capable of being applied in our particular educational context? To clarify these and other issues that any teacher could arise before the election of a multimedia educational materials, our particular object of study has a double claim on the one hand, developing two tools: the card catalog and the heading of Valuation of WebQuests and secondly, to apply these tools in order to find out / determine the degree of quality of a sample of WebQuests. In this article sets forth, in summary form, the various stages of what our research has gone since the establishment of a synthesized theoretical basis, via the definition of the basic guidelines for the design of the exhibition and research results and ending with The list of the ideas and proposals arising from thework.

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family.

AIM: To describe a large family with autosomal dominant parkinsonism. BACKGROUND: Seven genes are directly implicated in autosomally inherited parkinsonism. However, there are several multigenerational large families known with no identifiable mutation. MATERIAL AND METHODS: Family members were evaluated clinically, by history and chart review. Genetic investigation included SCA2, SCA3, UCHL1, SNCA, LRRK2, PINK1, PRKN, PGRN, FMR1 premutation, and MAPT. The proband underwent brain fluorodopa PET (FD-PET) scan, and one autopsy was available. RESULTS: Eleven patients had a diagnosis of Parkinson's disease (PD), nine women. Mean age of onset was 52 with tremor-predominant dopa-responsive parkinsonism. Disease progression was slow but severe motor fluctuations occurred. One patient required subthalamic nucleus deep-brain stimulation with a good motor outcome. One patient had mental retardation, schizophrenia and became demented, and another patient was demented. Three patients and also two unaffected subjects had mild learning difficulties. All genetic tests yielded negative results. FD-PET showed marked asymmetric striatal tracer uptake deficiency, consistent with PD. Pathological examination demonstrated no Lewy bodies and immunostaining was negative for alpha-synuclein. CONCLUSION: Apart from a younger age of onset and a female predominance, the phenotype was indistinguishable from sporadic tremor-predominant PD, including FD-PET scan results. As known genetic causes of autosomal dominant PD were excluded, this family harbors a novel genetic defect.

Comment on reversal of hypogonadotropic hypogonadism in a Chinese cohort.

The reversal of congenital hypogonadotropic hypogonadism (CHH) is a relatively recent phenomenon that has gained increasing attention over the past 10 years. Yet to date, only one prospective study has been conducted estimating that 10% (95% confidence interval [CI]: 2%-18%) of cases undergo reversal. [1] Other retrospective studies have reported rates in the range of 5%-8% [2],[3] and a recent study showed 44/308 (14%, 95% CI: 11%-19%) CHH patients underwent reversal. [4] Moreover, a time-to-event analysis in this large cohort revealed a lifetime reversal incidence of 22%. The article by Mao and colleagues presented in this issue is a meaningful contribution to our understanding of reversal as it examines the largest retrospective cohort to date. [5] Interestingly, they report the rate of reversal as 5% (95% CI: 3%-8%) in this Chinese cohort. It is difficult to reconcile the discrepancies in rates of reversibility and direct comparisons are hampered by the variable definitions employed. Using a novel definition for reversal (i.e, either endogenous testosterone (T) >270 ng dl−1 , serum T gradually increasing above 150 ng dl−1 with increased testicular volume, or normal spontaneous sperm production/normal erectile function/ejaculation), Mao and colleagues posit that testicular size and triptorelin-stimulated LH levels are reliable predictive factors for reversal. However, these cannot be considered as hard and fast rules for predicting reversal as the groups intersect - akin to the overlap observed between CHH patients and those with delayed puberty. Indeed, the fact that approximately half (44%, 95% CI: 25%-66%) of the reversal patients in the study by Mao et al.[5] were diagnosed between 17 and 19 years of age, underscores the challenge in differentiating CHH from extreme normal variants of puberty. This study further lends credence the recently reported observations that reversals may relapse. [4],[6] The notion that reversal may not be lasting highlights the vulnerability of the reproductive axis among CHH patients. While the mechanism(s) for relapse are unclear, it seems plausible that environmental, metabolic or psychiatric stressors could contribute. The factors that Mao and colleagues identify as significantly different in cases of reversal, were not informative for identifying those cases that relapsed back to a hypogonadal state. Notably, reversal has been reported in probands harboring mutations in genes underlying CHH. [1],[3],[4],[6] Unfortunately, comprehensive genetic screening on the Chinese cohort is not available. The reversal phenomenon is fascinating for its glimpse into the plasticity of the neuroendocrine control of reproduction. Future directions will almost certainly include investigation of specific genetic signatures and novel biomarkers for predicting reversal (and relapse). Yet CHH is a rare condition and to fully elucidate the biology of reversible CHH, it will be important to harmonize definitions of what constitutes a reversal, carefully phenotype patients and chart the natural history of their CHH. In this way, this unique human disease model may offer further insights into the control of human reproduction and provide opportunities to translate discoveries into enhanced approaches to improve the care and quality of life for these patients.

Prosessitietokoneen käytön kehittäminen Mertaniemen voimalaitoksella

Mertaniemen voimalaitoksien prosessitietokone (PTK) on uusittu keväällä 2005. Tämän työn tarkoituksena on ollut auttaa PTK:n virheiden korjaamisessa ja puut-teiden kartoittamisessa. Työssä on keskitytty etenkin prosessiraportoinnin tekemiseen. Työn alussa on kerrottu Mertaniemen voimalaitoksen tekniset tiedot ja PTK:n hankinnan taustatietoja. Uudesta PTK-järjestelmästä on kuvattu laitteisto, sovellus ja perusohjelmistot. PTK:n ja muiden järjestelmien välinen tiedonsiirto on myös kuvattu. PTK muuttujien nimeäminen on esitelty, jotta olisi helpompi hahmottaa työssä käytettyjen positioiden merkityksiä. Prosessiraportoinnin kehittämisessä kuvataan raporttien tarvetta ja niiden sisältöä sekä sitä kuinka raportit on tehty. Päästöraportointi on esitetty omana osa-alueenaan, koska voimalaitosten päästöjen seurantaa edellytetään tehtävän viran¬omaismääräysten ja EU-direktiivien vaatimusten mukaisesti. Raporttien lisäksi prosessiarvojen seuraamista helpottamaan on tehty yhteisiä trendi- ja työtilanäyttöjä. PTK:n ongelmakohtina on käsitelty muuttujien tunnuksissa ja nimissä olevat virheet sekä PTK laskennan tarkastaminen. Muuttujien nimien ja laskennan tarkas¬tusta tehtiin prosessiraportoinnin tekemisen yhteydessä sekä yhteistyössä PTK-järjestelmän toimittaneen Metso Automation Oy:n kanssa. Päästölaskennan korjaaminen oli erityisen tärkeää.

Tiedonkeruujärjestelmän kehittäminen voimalaitoksen toiminnan tehostamisessa

Diplomityössä kehitetään tiedonkeruujärjestelmää voimalaitoksen toiminnan tehostamiseksi. Aihetta käsitellään tiedonkeruujärjestelmän käyttäjän ja ylläpitäjän näkökulmasta. Tiedonkeruujärjestelmällä kerätään prosessitietoa automaatiojärjestelmästä ja tallennetaan prosessitieto tietokantaan. Työssä on kuvattu sekä automaatio- että tiedonkeruujärjestelmää prosessitiedon keruun, tallentamisen ja hallinnan ymmärtämiseksi. Prosessitiedon merkitystä voimalaitoksen toiminnan kannalta on myös pohdittu. Diplomityö tehtiin Mertaniemen voimalaitoksella, jossa käytännön kehityskohteina olivat laskenta- ja raportointisovellukset. Lisäksi tarkistettiin tietokantamuuttujia. Tiedonkeruujärjestelmää kehitetään ja päivitetään voimalaitoksen laitteisto- ja toimintamuutosten takia. Kehityksellä pyritään tarjoamaan oikeampaa ja luotettavampaa tietoa, korjaamaan virheitä sekä kartoittamaan mahdollisia puutteita.

Usabilidade na recuperação da informação: um enfoque no catálogo Athena

Pós-graduação em Ciência da Informação - FFC

Uso da linguagem documentária na busca da informação em bibliotecas universitárias: a perspectiva dos deficientes visuais

Pós-graduação em Ciência da Informação - FFC

A new portal for the analysis of human splicing variants

Understanding alternative splicing is crucial to elucidate the mechanisms behind several biological phenomena, including diseases. The huge amount of expressed sequences available nowadays represents an opportunity and a challenge to catalog and display alternative splicing events (ASEs). Although several groups have faced this challenge with relative success, we still lack a computational tool that uses a simple and straightforward method to retrieve, name and present ASEs. Here we present SPLOOCE, a portal for the analysis of human splicing variants. SPLOOCE uses a method based on regular expressions for retrieval of ASEs. We propose a simple syntax that is able to capture the complexity of ASEs.