Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

BACKGROUND/AIMS: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. CONCLUSIONS: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

Liber secundus super sententias secundum ([Reprod.]) / explicit Landulfum de Neapoli,...

Collection : Italian books before 1601 ; 440.1

Circadian glomerular function: from physiology to molecular and therapeutical aspects.

Life on earth is rhythmic by essence due to day/night alternation, and many biological processes are also cyclic. The kidney has a special role in the organism, controlling electrolytes and water balance, blood pressure, elimination of metabolic waste and xenobiotics and the production of several hormones. The kidney is submitted to changes throughout 24 h with periods of intense activity followed by calmer periods. Filtration, reabsorption and secretion are the three components determining renal function. Here, we review circadian changes related to glomerular function and proteinuria and emphasize the role of the clock in these processes.

Error probability in synchronous digital circuits due to power supply noise

This paper presents a probabilistic approach to model the problem of power supply voltage fluctuations. Error probability calculations are shown for some 90-nm technology digital circuits.The analysis here considered gives the timing violation error probability as a new design quality factor in front of conventional techniques that assume the full perfection of the circuit. The evaluation of the error bound can be useful for new design paradigms where retry and self-recoveringtechniques are being applied to the design of high performance processors. The method here described allows to evaluate the performance of these techniques by means of calculating the expected error probability in terms of power supply distribution quality.

Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.

BACKGROUND: Elucidating disease and developmental dysfunction requires understanding variation in phenotype. Single-species model organism anatomy ontologies (ssAOs) have been established to represent this variation. Multi-species anatomy ontologies (msAOs; vertebrate skeletal, vertebrate homologous, teleost, amphibian AOs) have been developed to represent 'natural' phenotypic variation across species. Our aim has been to integrate ssAOs and msAOs for various purposes, including establishing links between phenotypic variation and candidate genes. RESULTS: Previously, msAOs contained a mixture of unique and overlapping content. This hampered integration and coordination due to the need to maintain cross-references or inter-ontology equivalence axioms to the ssAOs, or to perform large-scale obsolescence and modular import. Here we present the unification of anatomy ontologies into Uberon, a single ontology resource that enables interoperability among disparate data and research groups. As a consequence, independent development of TAO, VSAO, AAO, and vHOG has been discontinued. CONCLUSIONS: The newly broadened Uberon ontology is a unified cross-taxon resource for metazoans (animals) that has been substantially expanded to include a broad diversity of vertebrate anatomical structures, permitting reasoning across anatomical variation in extinct and extant taxa. Uberon is a core resource that supports single- and cross-species queries for candidate genes using annotations for phenotypes from the systematics, biodiversity, medical, and model organism communities, while also providing entities for logical definitions in the Cell and Gene Ontologies. THE ONTOLOGY RELEASE FILES ASSOCIATED WITH THE ONTOLOGY MERGE DESCRIBED IN THIS MANUSCRIPT ARE AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases/2013-02-21/ CURRENT ONTOLOGY RELEASE FILES ARE AVAILABLE ALWAYS AVAILABLE AT: http://purl.obolibrary.org/obo/uberon/releases/

Suitability of Ultra Wideband for Mobile Devices

Mobiililaitteet ovat kehittyneet merkittävästi viimeisen vuosikymmenen aikana. Ne eivät enää ole pelkästään puhelimia tai kämmentietokoneita, vaan multimediatietokoneita, jotka pystyvät tuottamaan korkealaatuisia elämyksiä käyttäjälleen.Sisällön laadun paraneminen johtaa väistämättä myös siirrettävän tietomäärän kasvamiseen. Siksi uusia, nopeampia tiedonsiirtomenetelmiä on otettava käyttöön. Ultra Wideband (UWB) on uusi radioaaltotekniikka, jokamahdollistaa korkeat tiedonsiirtonopeudet lyhyillä etäisyyksillä. Tekniikka operoi erittäin leveällä 3.1 - 10.6 gigahertsin taajuuskaistalla.UWB on suunnattu nopeaan, langattomaan tiedonsiirtoon personal area networkin (PAN) laitteiden välillä. Tämän diplomityön tarkoituksena on arvioida UWBn soveltuvuutta mobiililaitteisiin. Arviointi tehdään teoreettiselta pohjalta, sillä UWBtä ei vielä ole implementoitu kaupallisiin laitteisiin. Ensin esitellään UWBn tekniikka ja ominaisuudet, jonka jälkeen sen soveltuvuutta arvioidaan esimerkkikäyttötapausten valossa. Esimerkkikäyttötapauksiksi on valittu kolme tyypillistä mutta erilaista toimintoa, jotka mahdollisimman hyvin kuvaavat mobiililaitteiden käyttöä.

A prospective, randomized, and controlled study of fluid management in children with severe head injury: lactated Ringer's solution versus hypertonic saline.

OBJECTIVES: Resuscitation in severe head injury may be detrimental when given with hypotonic fluids. We evaluated the effects of lactated Ringer's solution (sodium 131 mmol/L, 277 mOsm/L) compared with hypertonic saline (sodium 268 mmol/L, 598 mOsm/L) in severely head-injured children over the first 3 days after injury. DESIGN: An open, randomized, and prospective study. SETTING: A 16-bed pediatric intensive care unit (ICU) (level III) at a university children's hospital. PATIENTS: A total of 35 consecutive children with head injury. INTERVENTIONS: Thirty-two children with Glasgow Coma Scores of <8 were randomly assigned to receive either lactated Ringer's solution (group 1) or hypertonic saline (group 2). Routine care was standardized, and included the following: head positioning at 30 degrees; normothermia (96.8 degrees to 98.6 degrees F [36 degrees to 37 degrees C]); analgesia and sedation with morphine (10 to 30 microg/kg/hr), midazolam (0.2 to 0.3 mg/kg/hr), and phenobarbital; volume-controlled ventilation (PaCO2 of 26.3 to 30 torr [3.5 to 4 kPa]); and optimal oxygenation (PaO2 of 90 to 105 torr [12 to 14 kPa], oxygen saturation of >92%, and hematocrit of >0.30). MEASUREMENTS AND MAIN RESULTS: Mean arterial pressure and intracranial pressure (ICP) were monitored continuously and documented hourly and at every intervention. The means of every 4-hr period were calculated and serum sodium concentrations were measured at the same time. An ICP of 15 mm Hg was treated with a predefined sequence of interventions, and complications were documented. There was no difference with respect to age, male/female ratio, or initial Glasgow Coma Score. In both groups, there was an inverse correlation between serum sodium concentration and ICP (group 1: r = -.13, r2 = .02, p < .03; group 2: r = -.29, r2 = .08, p < .001) that disappeared in group 1 and increased in group 2 (group 1: r = -.08, r2 = .01, NS; group 2: r = -.35, r2 =.12, p < .001). Correlation between serum sodium concentration and cerebral perfusion pressure (CPP) became significant in group 2 after 8 hrs of treatment (r = .2, r2 = .04, p = .002). Over time, ICP and CPP did not significantly differ between the groups. However, to keep ICP at <15 mm Hg, group 2 patients required significantly fewer interventions (p < .02). Group 1 patients received less sodium (8.0 +/- 4.5 vs. 11.5 +/- 5.0 mmol/kg/day, p = .05) and more fluid on day 1 (2850 +/- 1480 vs. 2180 +/- 770 mL/m2, p = .05). They also had a higher frequency of acute respiratory distress syndrome (four vs. 0 patients, p = .1) and more than two complications (six vs. 1 patient, p = .09). Group 2 patients had significantly shorter ICU stay times (11.6 +/- 6.1 vs. 8.0 +/- 2.4 days; p = .04) and shorter mechanical ventilation times (9.5 +/- 6.0 vs. 6.9 +/- 2.2 days; p = .1). The survival rate and duration of hospital stay were similar in both groups. CONCLUSIONS: Treatment of severe head injury with hypertonic saline is superior to that treatment with lactated Ringer's solution. An increase in serum sodium concentrations significantly correlates with lower ICP and higher CPP. Children treated with hypertonic saline require fewer interventions, have fewer complications, and stay a shorter time in the ICU.

Vanhan kirjallisuuden kokoelma

Museoviraston vanhan kirjallisuuden kokoelma koostuu n. 4300 ennen vuotta 1850 painetusta kirjasta ja muutamasta käsin kirjoitetusta kirjasta. Vanhimmat kirjat kokoelmassa ovat kolme 1480-1490-luvuilla painettua inkunaabelia. Suurin osa kirjoista on kuitenkin peräisin 1700-1800-luvuilta ja liittyy Museoviraston toimialoihin: historiaan, kansatieteeseen, arkeologiaan ja taidehistoriaan. Kokoelma sijaitsee Sturenkadulla maanalaisissa olosuhdetiloissa josta aineiston voi tilata lukupaikalle. Jotkin näyttelyihin sijoitetut kirjat eivät ole käytettävissä. Vanhan kirjallisuuden kokoelmasta on julkaistu vuonna 1996 kokoelmaluettelo (Libri rari et cari : Museoviraston vanhan kirjallisuuden kokoelmaluettelo = Katalog över Museiverkets samling av gammal litteratur / Johanna Lilja.). Kokoelmaluettelon verkkoversio löytyy kirjaston verkkosivuilta. Kokoelman kartunta luetteloidaan HELKA-tietokantaan.

De sale

Invocatio: Auspice et duce Deo! - Ded.: Petrus Osander, Nicolaus Hahn, Nicolaus Cornerus, Andreas Aquilonius, Johannes Ranckel, Jonas Holtman, Theodorus Abrahamsson, Laurent. Werelinus.

Eettinen kasvu ja dialogisuus draaman näyttämöllä : valokiilassa päiväkodin draamaprosessi

This research is a phenomenological-hermeneutic case-study based on the methods of action research in which narrative methods are used to examine a process drama carried out in a day-care centre, focusing on its dialogicality and possibilities of offering children and adults ethical problems to examine and solve. A process drama built around a story was carried out in a Finnish day-care centre in 1999 with the aim of bringing ethical education to the level of conscious consideration and action. The research consists of two case-studies. The first focuses on Risto, one of the children who participated in the process, his actions in group situations, his commitment to the rules set by the leaders, his attitude towards the group and its members as well as the common agreements concerning the group, and his solutions to fictive dilemmas in relation to Lawrence Kohlberg’s and Carol Gilligan’s concepts of justice and care. On this basis conclusions are made on how drama can be applied to dealing with ethical dilemmas with children aged four to seven. The second case-study searches for ethical themes and signs of dialogicality in the story that was created together by the children and leaders, and in the action that took place in the drama sessions. The subjects of this study consist of two groups participating in the process drama, both consisting of seven children aged four to seven. Narratives were written on each child based on his/her participation in four drama sessions selected to be used in this study. The narratives include the writer’s interpretations of the dialogicality of the drama and the ethical themes observed and recognised in the videos and in the transcriptions of the video recordings. The description and interpretation of the dialogicality and the ethical themes observed in the drama sessions is based on the researcher’s dialogue with the writings of Georg Henrik von Wright, Martin Buber and Mihail Bahtin, as well as Nicholas C. Burbules’ definitions of the basic conditions for dialogical teaching. As a result of the study, drama activity proved to be a means by which dialogically abstract ethical questions and conflicts could be dealt with even with young children and which revealed the zone of proximal development of both children and adults. Drama became a stage for ethical growth and dialogicality, and the common play of children and adults could be seen as an indicator of deep dialogicality. On the basis of this study, it can be said that drama is a very suitable way of establishing a shape and form of ethical education in which it is possible to make planned, target-oriented progress and which can be consciously observed by following the development of both the child and the educator.

Influência da irrigação intraperitoneal de solução salina em diferentes temperaturas na formação de aderências e prevenção de hipotermia após pneumoperitônio em ratos

Este estudo experimental em ratos avalia a influência da irrigação da cavidade peritoneal com solução salina isotônica (0,9 %), em diferentes temperaturas, na formação de aderências peritoneais e prevenção de hipotermia após pneumoperitônio. Foram utilizados 80 ratos divididos em quatro grupos de 20 animais: grupo controle (G1) sem irrigação, grupos com irrigação a temperatura ambiente 22,0°C (G2), a 35,0°C (G3) e a 45,0°C (G4). A análise da hipotermia foi realizada através da monitorização da temperatura retal em três diferentes momentos: após a anestesia (T1), cinco minutos depois da insuflação de dióxido de carbono (T2) e cinco minutos após a irrigação com solução salina (T3). Os animais foram sacrificados no 28º dia de pós-operatório. Observaram-se aderências nos grupos com irrigação, sendo que, com salina à temperatura de 45,0ºC houve maior formação de aderências (30,0%) , porém, esta diferença não foi significante. No G2 ocorreu uma queda significante na temperatura média retal quando comparada aos demais grupos, demonstrando que a hipotermia na cirurgia laparoscópica pode ser reduzida com o uso de solução salina aquecida.

Efeito do fator XIII da coagulação na cicatrização da pele de ratos em uso de corticosteróide

OBJETIVOS: Observar o efeito do fator XIII da coagulação (Fibrogamin®) na cicatrização de feridas incisas da pele de ratos tratados com corticosteróide. Foi feita a avaliação quanto ao aspecto histopatológico dos tecidos em cicatrização e sua resistência à tensão. MÉTODO: Foram utilizados 40 ratos Wistar, divididos em quatro grupos. No grupo A (n=10), foi administrado corticosteróide. No grupo B (n=10) foi usado corticosteróide e fator XIII. No grupo C (n=10) foi injetado fator XIII e no grupo D (n=10) foi administrado placebo (controle). A resistência à tensão foi medida através de tensiômetro computadorizado e as alterações histopatológicas quantificadas por análise digital. RESULTADOS: Ocorreu uma significativa diminuição da resistência da ferida de pele no grupo A (523,6gf), quando comparado com o controle (1480,4gf). No grupo B (868,8gf) notou-se significativa diferença em relação ao grupo A (p<0,0001). O grupo C não mostrou diferença (p=0,067) em relação ao grupo controle (D), entretanto foram observadas diferenças significativas quando comparados os grupos A e C; A e D (p<0,0001). A análise da densidade do colágeno e de células inflamatórias revelou as mesmas diferenças observadas na resistência à tensão. CONCLUSÕES: Foi observado que a ação do corticosteróide dificultou a cicatrização da pele de ratos e diminuiu a resistência à tensão, ação revertida pelo uso do fator XIII . A utilização do fator XIII sem uso de corticosteróide não demonstrou ação de melhora nos resultados da cicatrização em relação ao controle.