A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence.

OBJECTIVES: This study aimed to identify the genetic defect in a family with idiopathic ventricular fibrillation (IVF) manifesting in childhood and adolescence. BACKGROUND: Although sudden cardiac death in the young is rare, it frequently presents as the first clinical manifestation of an underlying inherited arrhythmia syndrome. Gene discovery for IVF is important as it enables the identification of individuals at risk, because except for arrhythmia, IVF does not manifest with identifiable clinical abnormalities. METHODS: Exome sequencing was carried out on 2 family members who were both successfully resuscitated from a cardiac arrest. RESULTS: We characterized a family presenting with a history of ventricular fibrillation (VF) and sudden death without electrocardiographic or echocardiographic abnormalities at rest. Two siblings died suddenly at the ages of 9 and 10 years, and another 2 were resuscitated from out-of-hospital cardiac arrest with documented VF at ages 10 and 16 years, respectively. Exome sequencing identified a missense mutation affecting a highly conserved residue (p.F90L) in the CALM1 gene encoding calmodulin. This mutation was also carried by 1 of the siblings who died suddenly, from whom DNA was available. The mutation was present in the mother and in another sibling, both asymptomatic but displaying a marginally prolonged QT interval during exercise. CONCLUSIONS: We identified a mutation in CALM1 underlying IVF manifesting in childhood and adolescence. The causality of the mutation is supported by previous studies demonstrating that F90 mediates the direct interaction of CaM with target peptides. Our approach highlights the utility of exome sequencing in uncovering the genetic defect even in families with a small number of affected individuals.

Deficit in memory consolidation (abnormal forgetting rate) in childhood temporal lobe epilepsy. Pre and postoperative long-term observation.

Deficits in memory consolidation have been reported in adult patients with epilepsy but, not to our knowledge, in children. We report the long-term follow-up (9 y. o. to 18 y. o.) of a boy who suffered from temporal lobe epilepsy and underwent a left temporal lobectomy with amygdalo-hippocampal resection at the age of 10. He showed an abnormal forgetting rate when trying to encode new information and a significant deficit for retrieving remote episodic memories (when compared with his twin brother), both consistent with a consolidation disorder. His memory condition slightly improved after cessation of the epilepsy, nevertheless did not normalize. No standard memory assessment could pinpoint his memory problem, hence an adapted methodology was needed. We discuss the nature of the memory deficit, its possible causes and its clinical implications.

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence was 2.3 (95% CI 2.2 to 2.4) per 10 000 births and 1.6 (95% CI 1.6 to 1.7) for isolated CDH cases. There was a small but significant increase (relative risk (per year)=1.01, 95% credible interval 1.00-1.01; p=0.030) in the prevalence of total CDH over time but there was no significant increase for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases. CONCLUSIONS: This large population-based study found an increase in total CDH prevalence over time. CDH prevalence also varied significantly according to geographical location. No significant association was found with maternal age.

Prognostic importance of hyponatremia in patients with acute pulmonary embolism.

Rationale: Although associated with adverse outcomes in other cardiopulmonary conditions, the prognostic value of hyponatremia, a marker of neurohormonal activation, in patients with acute pulmonary embolism (PE) is unknown. Objectives: To examine the associations between hyponatremia and mortality and hospital readmission rates for patients hospitalized with PE. METHODS: We evaluated 13,728 patient discharges with a primary diagnosis of PE from 185 hospitals in Pennsylvania (January 2000 to November 2002). We used random-intercept logistic regression to assess the independent association between serum sodium levels at the time of presentation and mortality and hospital readmission within 30 days, adjusting for patient (race, insurance, severity of illness, use of thrombolytic therapy) and hospital factors (region, size, teaching status). Measurements and Main Results: Hyponatremia (sodium ?135 mmol/L) was present in 2,907 patients (21.1%). Patients with a sodium level greater than 135, 130-135, and less than 130 mmol/L had a cumulative 30-day mortality of 8.0, 13.6, and 28.5% (P < 0.001), and a readmission rate of 11.8, 15.6, and 19.3% (P < 0.001), respectively. Compared with patients with a sodium greater than 135 mmol/L, the adjusted odds of dying were significantly greater for patients with a sodium 130-135 mmol/L (odds ratio [OR], 1.53; 95% confidence interval [CI], 1.33-1.76) and a sodium less than 130 mmol/L (OR, 3.26; 95% CI, 2.48-4.29). The adjusted odds of readmission were also increased for patients with a sodium of 130-135 mmol/L (OR, 1.28; 95% CI, 1.12-1.46) and a sodium less than 130 mmol/L (OR, 1.44; 95% CI, 1.02-2.02). Conclusions: Hyponatremia is common in patients presenting with PE, and is an independent predictor of short-term mortality and hospital readmission.

A comparison of pain scales in Thai children.

Three commonly used pain scales, the visual analogue scale, the Wong-Baker Faces Pain Scale, and the Faces Pain Scale Revised were administered to 122 Thai children, of whom half were HIV infected, in order to assess their validity. These scales presented moderate to good correlation and moderate agreement, sufficient for valid use in Thai children.

Urinary saturation and nephrocalcinosis in preterm infants: effect of parenteral nutrition.

Urinary lithogenic and inhibitory factors were studied in 27 preterm infants; 16 had total parenteral nutrition (TPN) and 11 had breastmilk with an additional glucose-sodium chloride infusion. Urines were collected for 24 hours on day 2 (period A), day 3 (B), and once between days 4 and 10 (C). Urinary calcium oxalate saturation was calculated by the computer program EQUIL 2. Renal ultrasonography was performed every second week until discharge. The calcium/creatinine ratio increased in infants on TPN (A 0.91; C 1.68 mol/mol) and was significantly higher at period C than that in infants on breastmilk/infusion (A 0.52; C 0.36). The oxalate/creatinine ratio was persistently higher with TPN (203 mmol/mol) than with breastmilk/infusion (98; 137). The citrate/creatinine remained constant with TPN (0.44 mol/mol), whereas it increased significantly with breastmilk/infusion (0.26; 0.49). Calcium/citrate rose considerably with TPN, but decreased with breastmilk/infusion to a significantly lower level than with TPN. The urinary calcium oxalate saturation increased with TPN (2.4; 4.5) and decreased with breastmilk/infusion (2.1; 1.5) to a significantly lower value than with TPN. Nephrocalcinosis developed in two infants on TPN. Mean daily calcium intake was similar in both groups, whereas protein, sodium, and phosphorus intake were significantly higher on TPN. It is concluded that the increase in urinary calcium oxalate saturation observed with TPN is due to the combined effect of an increased urinary calcium excretion and higher urinary oxalate/creatinine and calcium/citrate ratios. The changes observed are likely to be caused by TPN itself, which differs in several respects from breastmilk feeding.

Time in e-Learning Research: A Qualitative Review of the Empirical Consideration of Time in Research into e-Learning

Peer-reviewed

Decomposition of differences in PISA results in middle income countries

Programme for International Student Assessment

Drying of Ink in Inkjet Printing

Tämän diplomityön tavoitteena oli saada perustietoa tekijöistä, jotka vaikuttavat musteen kuivumiseen erilaisilla paperipinnoilla inkjet tulostuksessa. Tavoitteena oli saada tietoa erilaisista musteista, joita käytetään yleisimmissä inkjet tulostustekniikoissa, miten paperit vaikuttavat musteen kuivumiseen ja minkälaisia menetelmiä on olemassa musteen kuivumistekijöiden määrittämiseen. Lisäksi tarkoituksena oli varmistaa, voidaanko inkjetmusteiden absorptioajan määrittämiseen käytettävää DIGAT-laitetta käyttää määrittämään ja ennustamaan erilaisten musteiden kuivumista erilaisilla paperipinnoilla sekä etsiä korrelaatioita musteen absorptioajan ja teknisten paperiominaisuuksien sekä inkjet tulostuksen laadun välillä. Kirjallisuusosassa tarkasteltiin erilaisia inkjet tulostusmenetelmiä, niissä käytettäviä musteita ja musteiden koostumuksia. Tutkittiin myös paperin ja musteen välisiä vuorovaikutuksia sekä inkjet tulostuksen laatua. Kokeellisessa osassa tutkittiin musteenabsorboitumista paperiin DIGAT-laitteen avulla. kuudella eri musteella. Paperinäytteistä määritettiin teknisiä paperiominaisuuksia sekä ominaisuuksia, jotka liittyvät inkjet tulostuksen laatuun. Inkjet tulostuksen laatua tarkasteltiin tulostamalla testikuva kolmella eri tulostimella, jotka olivat Canon Bubble Jet i950, HP DeskJet Cxi970 ja Epson Stylus C46. Havaittiin, että DIGAT-laite ei sovellu määrittämään musteen absorptioaikoja kiiltäville näytteille.Tässä tutkimuksessa näyte, jonka kiilto oli 65 %, oli liian kiiltävä mitattavaksi DIGAT-laitteella. Lisäksi absorptiomäärityksissä havaittiin, että erilaiset musteet asettuvat erilailla paperin pintaan ja että pigmenttipohjaisella musteella asettumisaika oli kaikista pisin. Musteiden absorptioajat olivat nopeimpia erikoisinkjetpaperilla ja hitaimpia päällystetyillä, tiiviillä papereilla. Musteen absorptioajan ja teknisten paperiominaisuuksien ja inkjet tulostuksen laadun välisiä korrelaatioita oli vaikea havaita. Voidaan sanoa, että tulokset olivat muste- ja printterikohtaisia. Havaittiin vain muutamia teknisiä paperiominaisuuksia, jotka korreloivat hyvin musteen absorboitumisen kanssa. Nämäolivat Gurley-Hill huokoisuus, paperin tuhka- sekä kalsiumkarbonaattipitoisuus ja K&N värinabsorptio. Myöskään inkjet tulostuksen laadun ja musteen absorption välisiä korrelaatioita ei löytynyt kuin muutama; densiteetti, mottling sekä bleeding. Tämän tutkimuksen perusteella voidaan todeta DIGAT-laitteen soveltuvan hyvin kuvaamaan inkjet tulostuksen laatuominaisuuksista densiteettia, mottlingia sekä bleedingiä. DIGAT-laitetta voidaan siis käyttää avuksi ennustettaessa kuivumisaikaa ja sen vaikutusta edellä mainittuihin ominaisuuksiin. Läpipainatusominaisuuksia DIGAT-laitteen avulla ei voida tutkia, sillä ne ovat enemmän riippuvaisia paperin neliömassasta, paksuudesta ja huokoisuudesta kuinmusteen absorptioajasta. Teknisistä paperiominaisuuksista Gurley-Hill huokoisuus, paperin tuhka-sekä CaCO3-pitoisuus ja K&N värinabsorptio kuvaavat hyvin musteen imeytymisaikaa paperiin, kun taas ominaisuudet Cobb, HST ja polaari- sekädispersiokomponentit eivät kuvaa. Näyttää siltä, että testikuva, joka on tällä hetkellä käytössä UPM Tutkimus-keskuksessa, ei sovellu suurtehotulostuksen laadun tarkkailuun. Testikuva toimii hyvin pöytätulostimilla ja perinteisillä kopiopapereilla ja inkjetpapereilla, jotka on tarkoitettu tulostettaviksi hitaasti. Tulostusnopeuden ja musteen kuivumisnopeuden välisiä ilmiöitä seei tuo esille, joten se ei sovellu kuvaamaan suurtehotulostusta.

The role of culture in international students' image formation: the emergence of expected and perceived university image

Tämän tutkimuksen tavoitteena oli selvittää, vaikuttaako kansainvälisen opiskelijan kulttuuritausta opiskelijan odotetun ja koetun yliopistoimagon muodostumiseen. Jotta kulttuurin vaikutuksia yliopistoimagoon voitiin tutkia, tutkimuksessa tunnistettiin yliopistoimagon muodostumiseen oleellisesti vaikuttavat tekijät. Kulttuurin roolia organisaation imagon muodostumisessa ei ole tutkittu aiemmissa tieteellisissä julkaisuissa. Näin ollen tämän tutkimuksen voidaan katsoa edistäneen nykyistä imagotutkimusta. Tutkimuksen kohdeyliopistona oli Lappeenrannan teknillinen yliopisto (LTY). Tutkimuksen empiirinen osa toteutettiin kvantitatiivisena Internet - pohjaisena kyselytutkimuksena tilastollisen analyysin menetelmin. Otos (N=179) koostui kaikista Lappeenrannan teknillisessä yliopistossa lukuvuonna 2005-2006 opiskelleista kansainvälisistä opiskelijoista. Kyselyyn vastasi 68,7 % opiskelijoista. Johtopäätöksenä voidaan todeta, että kulttuurilla ei ole merkittävää vaikutusta yliopistoimagon muodostumiseen. Tutkimuksessa saatiin selville, että yliopiston Internet-sivujen laatu vaikuttaa positiivisesti odotetun yliopistoimagon muodostumiseen, kun taas koettuun yliopistoimagoon vaikuttavat positiivisesti odotettu yliopistoimago, pedagoginen laatu sekä opetusympäristö. Markkinoinnin näkökulmasta tulokset voidaan vetää yhteen toteamalla, että yliopistojen ei tarvitsisi räätälöidä tutkimuksessa tunnistettuja imagoon vaikuttavia tekijöitä eri kulttuureistatulevia opiskelijoita varten.

Overweight in Swiss children and associations with children's and parents' characteristics et Worldwide trends in childhood obesity

(1) Surpoids chez les enfants suisses et associations avec certaines caractéristiques chez les enfants et leurs parents Le but de cette étude était de mesurer la prévalence du surpoids et de l?obésité chez les enfants de sixième année du canton de Vaud (âge moyen de 12 ans) et les facteurs associés au surpoids. Les données ont été récoltées lors d?une étude menée par l?Institut universitaire de médecine sociale et préventive. Tous les enfants scolarisés en 6ème année à l?école publique du canton de Vaud entre septembre 2005 et mai 2006 étaient éligibles à participer à cette étude. Le taux de participation a atteint 76% (soit 5207 enfants de 12,3 ans en moyenne). Le poids et la taille des enfants ont été mesurés à l?école par des assistants de recherche et les enfants ont rempli, en classe, un questionnaire structuré sur leur mode de vie (notamment : temps quotidien passé à regarder la télévision, à jouer à des jeux sur écran; fréquence de la pratique de diverses activités physiques; fréquence de la consommation de fruits ou de légumes). Des informations sur les parents (niveau d?éducation, nationalité, poids et taille) ont été récoltées au moyen d?un questionnaire structuré envoyé par courrier à ceux-ci. Nous avons utilisé les critères de l?International Obesity Task Force, qui définit les valeurs-seuils de l'indice de masse corporelle pour le surpoids et pour l?obésité, par age et par sexe. La prévalence du surpoids (obésité incluse) dans la population était de 15% chez les garçons et de 12% chez les filles, et la prévalence de l?obésité était de 2% dans les deux sexes. Nous avons trouvé que le surpoids était associé de façon indépendante avec le temps passé à regarder la télévision, ainsi qu?avec certaines caractéristiques des parents, comme le surpoids, un bas niveau d?éducation et une nationalité étrangère. En conclusion, un enfant sur sept est en surpoids ou obèse dans le canton de Vaud. Ces chiffres indiquent un important défi de santé publique, même si cette prévalence dans le canton de Vaud est, actuellement, moindre que dans beaucoup d?autres pays d?Europe, et bien moindre qu?en Amérique du Nord. Les associations entre le surpoids infantile et le temps passé à regarder la télévision, ainsi que les associations avec des variables liées au milieu socio-culturel des parents indiquent plusieurs pistes d?intervention pour prévenir le surpoids chez les enfants. Il est probable que les mesures de prévention ne devraient pas se limiter aux approches individuelles, mais devraient aussi inclure des mesures structurelles sur l?environnement social, physique et économique visant à réduire les facteurs obésogènes dans la société.<br/><br/>Objective: The objective was to assess the prevalence of overweight and obesity in children in a canton of Switzerland and the association with various characteristics of the parents and the children. Research Methods and Procedures: A cross-sectional survey was conducted in all children of the sixth school grade of the canton of Vaud, Switzerland. Weight and height were measured, and selected lifestyle variables were assessed with a self-administered semiquantitative questionnaire. Information on children?s parents was gathered through a mailed structured questionnaire. Overweight and obesity were based on the International Obesity Task Force criteria. Results: Of 6873 eligible children, 5207 (76%) participated (2621 boys, 2586 girls; mean age, 12.3 years; standard deviation, 0.5 year). The prevalence of overweight (including obesity) was 15.0% (95% confidence interval, 13.7% to 16.4%) in boys and 12.4% (11.1% to 13.7%) in girls, and the prevalence of obesity was 1.8% (1.3% to 2.3%) and 1.7% (1.2% to 2.2%), respectively. In both univariate and multivariate analyses, overweight was strongly associated with high television viewing time and selected characteristics of the parents (overweight, low educational level, and foreign nationality). Discussion: The prevalence of pediatric overweight and obesity was lower in this region of Switzerland than in several European countries. The correlates of overweight found in this region suggest areas for potential interventions.

Performance of parental history for the targeted screening of hypertension in children.

OBJECTIVES: Several guidelines recommend universal screening for hypertension in childhood and adolescence. Targeted screening to children with parental history of hypertension could be a more efficient strategy than universal screening. Therefore, we assessed the association between parental history of hypertension and hypertension in children, and estimated the sensitivity, specificity, negative, and positive predictive values of parental history of hypertension for hypertension in children. METHODS: The present study was a school-based cross-sectional study including 5207 children aged 10-14 years from all public 6th grade classes in the Canton of Vaud, Switzerland. Children had hypertension if they had sustained elevated blood pressure over three separate visits. RESULTS: In children, the prevalence of hypertension was 2.2%. Some 8.5% of mothers and 12.9% of fathers reported to be hypertensive. Maternal history of hypertension (odds ratio 2.0, 95% confidence interval 1.2-3.3) and paternal history of hypertension (odds ratio 2.2, 95% confidence interval 1.4-3.6) were independent risk factors for hypertension in children. Nevertheless, the sensitivity of parental history of hypertension for the identification of hypertension in children was low (from 4% for both parents' positive history up to 41% for at least one parent's positive history). Positive predictive values were also low (between 4 and 5%). CONCLUSION: Children with hypertensive parents were at higher risk of hypertension. Nevertheless, parental history of hypertension helped only marginally to identify hypertension in offspring. Targeting screening only toward children with a parental history of hypertension may not be a substantially better strategy to identify hypertension in children compared with universal screening.

Bicaval dual-lumen cannula for venovenous extracorporeal membrane oxygenation: Avalon© cannula in childhood disease.

Severe acute refractory respiratory failure is considered a life-threatening situation, with a high mortality of 40 to 60%. When conservative oxygenation methods fail, a lifesaving measure is the introduction of extracorporeal membrane oxygenation (ECMO). Venovenous ECMO (VV-ECMO) is a preferred modality of support for patients with refractory acute respiratory failure. Specifically, bicaval VV-ECMO is a well-recognized and validated therapy, where single or double periphery venous access is used for the insertion of two differently sized cannulas in order to achieve adequate blood oxygenation. Compared to venoarterial ECMO, in VV-ECMO, the rate of complications, such as thrombosis, bleeding, infection and ischemic events, is lower. On the other hand, the size and insertion location is an obstacle to patient mobilization. This is a considerable problem for patients where the time interval for lung recovery and the bridge to the transplantation is prolonged. To address this issue, a dual-lumen, single venovenous cannula was introduced. Here, by insertion of one single catheter in one target vessel, in a majority of cases in the right internal jugular vein, satisfactory oxygenation of the patient is achieved. In this form, the instituted VV-ECMO enables patient mobility, better physical rehabilitation and facilitates pulmonary extubation and toilet. However, relatively early, after the first short-term reports were published, a relatively high complication rate became evident. In the recent literature, the complication rate using actual commercially available double-lumen venovenous cannula ranges between 5 and 30%. These cases were mostly conjoined to the implantation phase or the early postoperative phase and vary between right heart perforation to migration of the cannula. This review focuses on complications allied to commercially available dual-lumen, single, venovenous cannula implantation, pointing out the critical segments of the implantation process and analyzing the structure of the device.

Using a blog to create and support a Community of Inquiry in Secondary Education

Understanding how blogs can support collaborative learning is a vital concern for researchers and teachers. This paper explores how blogs may be used to support Secondary Education students’ collaborative interaction and how such an interaction process can promote the creation of a Community of Inquiry to enhance critical thinking and meaningful learning. We designed, implemented and evaluated a science case-based project in which fifteen secondary students participated. Students worked in the science blogging project during 4 months. We asked students to be collaboratively engaged in purposeful critical discourse and reflection in their blogs in order to solve collectively science challenges and construct meaning about topics related to Astronomy and Space Sciences. Through student comments posted in the blog, our findings showed that the blog environment afforded the construction of a Community of Inquiry and therefore the creation of an effective online collaborative learning community. In student blog comments, the three presences for collaborative learning took place: cognitive, social, and teaching presence. Moreover, our research found a positive correlation among the three presences –cognitive, social and teaching– of the Community of Inquiry model with the level of learning obtained by the students. We discuss a series of issues that instructors should consider when blogs are incorporated into teaching and learning. We claim that embedded scaffolds to help students to argue and reason their comments in the blog are required to foster blog-supported collaborative learning.

3B.01: Performance of targeted screening for the identification of hypertension in children

OBJECTIVE: As universal screening of hypertension performs poorly in childhood, targeted screening to children at higher risk of hypertension has been proposed. Our goal was to assess the performance of combined parental history of hypertension and overweight/obesity to identify children with hypertension. We estimated the sensitivity, specificity, negative and positive predictive values of overweight/obesity and parental history of hypertension for the identification of hypertension in children. DESIGN AND METHOD: We analyzed data from a school-based cross-sectional study including 5207 children aged 10 to 14 years from all public 6th grade classes in the canton of Vaud, Switzerland. Blood pressure was measured with a clinically validated oscillometric automated device over up to three visits separated by one week. Children had hypertension if they had sustained elevated blood pressure over the three visits. Parents were interviewed about their history of hypertension. RESULTS: The prevalence of hypertension was 2.2%. 14% of children were overweight or obese and 20% had a positive history of hypertension in either or both parents. 30% of children had either or both conditions. After accounting for several potential confounding factors, parental history of hypertension (odds ratio (OR): 2.6; 95% confidence interval (CI): 1.8-4.0), overweight excluding obesity (OR: 2.5; 95% CI: 1.5-4.2) and obesity (OR: 10.1; 95% CI: 6.0-17.0) were associated with hypertension in children. Considered in isolation, the sensitivity and positive predictive values of parental history of hypertension (respectively 41% and 5%) or overweight/obesity (respectively 43% and 7%) were relatively low. Nevertheless, considered together, the sensitivity of targeted screening in children with either overweight/obesity or paternal history of hypertension was higher (65%) but the positive predictive value remained low (5%). The negative predictive value was systematically high. CONCLUSIONS: Restricting screening of hypertension to children with either overweight/obesity or with hypertensive parents would substantially limit the proportion of children to screen (30%) and allow the identification of a relatively large proportion (65%) of hypertensive cases. That could be a valuable alternative to universal screening.