A Cross-cultural Study of Gifted Students' Scientific, Societal and Moral Questions Concerning Science

This study investigated the number and nature of gifted female and male students’ scientific, societal, and moral questions concerning science. The participants (N=658) of this study were 16-19 year-old international students from 55 countries, and two continents, Asia and Europe. They applied to participate in the Millennium Youth Camp held in 2011 in Finland. The students came from scientifically and mathematically oriented schools and they had shown an interest towards science through competitions, school success, and their own research. The students were asked to formulate questions they would like to get answers to during the camp. The nature and number of the students’ questions were analyzed with qualitative and quantitative content analysis. The results showed that the boys asked more scientific questions than the girls, and the girls asked more societal questions than the boys. The students asked less questions about morality than scientific or societal questions. The most common questions about morality were related to pollution and fresh air, environmental problems, and water protection. The results point to the need for teachers to teach socioscientific issues and discuss moral questions related to science. This should be done to increase moral sensitivity and influence the future of humankind.Peer reviewe

Sosiaali‐ ja terveydenhuollon tietohallinto uutisoituna – diskurssit Helsingin Sanomissa 2006–2010

Tutkimuksen tarkoituksena oli kuvata sosiaali‐ ja terveydenhuollon tietohallinnon ilmiön uutisointia Helsingin Sanomissa vuosina 2006‐2010. Tavoitteena oli myös analysoida uutiskynnyksen ylittäneiden kirjoitusten sisältöä, teemoja ja puhetapoja sekä pohtia sitä, millaista yhteistä julkisuutta ne osaltaan synnyttävät ja ylläpitävät. Tutkimusaineistona oli 125 tutkimuksen aihealueen kirjoitusta lehden eri osioissa vuosina 2006‐2010. Pääosa kirjoituksista käsitteli terveydenhuollon tietohallintoa; sosiaalihuollon tietohallinto mainittiin yleensä nimenä terveydenhuollon ohessa, ja pelkästään sosiaalihuollon tietohallinnon uutisaiheita löytyi vain yksi.Kirjoitusten aiheet olivat hyvin vaihtelevia. Eniten uutisoitiin terveydenhuollon sähköisistä potilastietojärjestelmistä, kansallisesta potilastietoarkistosta ja sähköisestä reseptistä, jotka mainittiin uutisoinnissa yhteensä 120 kertaa. Kirjoitukset sisälsivät viisi eri diskurssia eli puhetapaa: kehitysuskodiskurssi, muutosdiskurssi, laillisuusdiskurssi, talousdiskurssi ja viranomaisdiskurssi. Kaikki diskurssit olivat sisällöltään moniulotteisia, syviä ja laajoja ja sisälsivät vastuun näkökulman. Vastuu on tärkeä kysymys myös joukkoviestinnässä: mikä ylittää uutiskynnyksen, mitä kirjoitetaan ja miten kirjoitetaan. Ilmennyt kirjoitusten sirpaleisuus saattaa vaikeuttaa sosiaali‐ ja terveydenhuollon tietohallinnon uutisaiheiden ymmärrettävyyttä.Sosiaali‐ ja terveydenhuollon asiakas‐ ja potilastiedot ovat erityisen henkilökohtaisia ja luottamuksellisia, minkä vuoksi ei ole yhdentekevää, miten tietoja käsitellään. Merkityksetöntä ei ole sekään, mitä ja miten näiden tietojen käsittelystä ja tiedonhallinnasta uutisoidaan valtakunnallisessa sanomalehdessä

Medication adherence/persistence among patients with active multiple sclerosis in Finland

Objectives To explore adherence, persistence, and treatment patterns in patients with multiple sclerosis (MS) in Finland treated with disease-modifying therapies (DMTs) for active MS in 2005-2018. Materials and Methods The study cohort was identified using the Drug Prescription Register of Social Insurance Institute, Finland. All patients had at least one prescription of glatiramer acetate (GA), beta-interferons, teriflunomide, or delayed-release dimethyl fumarate (DMF). Adherence was calculated using proportion of days covered (PDC) (cutoff >= 0.8). Time to non-persistence was calculated by the number of days on index DMT treatment before the first treatment gap (>= 90 days) or switch and analyzed with time-to-event methodology. Results The cohort included 7474 MS patients (72.2% female; mean age 38.9 years). Treatment switches were steady over 2005-2012, peaked in 2015. PDC means (standard deviations) were GA, 0.87 (0.17); beta-interferons, 0.88 (0.15); DMF, 0.89 (0.14); teriflunomide, 0.93 (0.10). Adherence frequencies were GA, 78.4%; beta-interferons, 81.3%; DMF, 86.9%; teriflunomide, 91.7%. Logistic regression showed that age group, DMT and the starting year, sex, and hospital district independently affected adherence. Patients receiving teriflunomide and DMF, males, and older patients were more likely to persist on treatment. There was no difference in persistence between patients prescribed teriflunomide and DMF, or between GA and beta-interferons. Conclusions Oral DMTs had greater adherence and persistence than injectable DMTs.Peer reviewe

Medication adherence/persistence among patients with active multiple sclerosis in Finland

Objectives To explore adherence, persistence, and treatment patterns in patients with multiple sclerosis (MS) in Finland treated with disease-modifying therapies (DMTs) for active MS in 2005-2018. Materials and Methods The study cohort was identified using the Drug Prescription Register of Social Insurance Institute, Finland. All patients had at least one prescription of glatiramer acetate (GA), beta-interferons, teriflunomide, or delayed-release dimethyl fumarate (DMF). Adherence was calculated using proportion of days covered (PDC) (cutoff >= 0.8). Time to non-persistence was calculated by the number of days on index DMT treatment before the first treatment gap (>= 90 days) or switch and analyzed with time-to-event methodology. Results The cohort included 7474 MS patients (72.2% female; mean age 38.9 years). Treatment switches were steady over 2005-2012, peaked in 2015. PDC means (standard deviations) were GA, 0.87 (0.17); beta-interferons, 0.88 (0.15); DMF, 0.89 (0.14); teriflunomide, 0.93 (0.10). Adherence frequencies were GA, 78.4%; beta-interferons, 81.3%; DMF, 86.9%; teriflunomide, 91.7%. Logistic regression showed that age group, DMT and the starting year, sex, and hospital district independently affected adherence. Patients receiving teriflunomide and DMF, males, and older patients were more likely to persist on treatment. There was no difference in persistence between patients prescribed teriflunomide and DMF, or between GA and beta-interferons. Conclusions Oral DMTs had greater adherence and persistence than injectable DMTs.</div

Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers : a follow-up study

BackgroundLMNA mutations are an important cause of cardiomyopathy often leading to cardiac arrhythmias, heart failure and even heart transplantation. An increasing number of asymptomatic mutation carriers are identified, as family members of the index patients are screened. Our aim was to study the disease progression in asymptomatic LMNA mutation carriers and in patients with symptomatic cardiolaminopathy by repeated spiroergometric testing in a prospective clinical follow-up study. Methods and ResultsWe studied 26 LMNA mutation carriers once a year during 5years up to 6 times by spiroergometry, clinical assessment, laboratory tests and echocardiography. The 23 control subjects underwent clinical assessment and spiroergometry once. Twelve of the mutation carriers were asymptomatic, and 14 had some clinical manifestations of the mutation ranging from clinically relevant rhythm disturbances to DCM and heart failure. Compared to controls, the symptomatic carriers showed a higher slope of the ventilatory equivalent for CO2 (VE/VCO2 slope) and a lower fraction of end-tidal CO2 (FetCO(2)). The asymptomatic mutation carriers also showed an increased ventilatory response to exercise during the follow-up as indicated by increased VE/VCO2 slope and decreased FetCO(2). ConclusionsThe study suggests that an increased ventilatory response during exercise might reveal a preclinical manifestation of DCM in LMNA mutation carriers.Peer reviewe

Late gadolinium enhanced cardiovascular magnetic resonance of lamin A/C gene mutation related dilated cardiomyopathy

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy

Aims Nationwide large-scale genetic and outcome studies in cohorts with hypertrophic cardiomyopathy (HCM) have not been previously published. Methods and results We sequenced 59 cardiomyopathy-associated genes in 382 unrelated Finnish patients with HCM and found 24 pathogenic or likely pathogenic mutations in six genes in 38.2% of patients. Most mutations were located in sarcomere genes (MYBPC3, MYH7, TPM1, and MYL2). Previously reported mutations by our study group (MYBPC3-Gln1061Ter, MYH7-Arg1053Gln, and TPM1-Asp175Asn) and a fourth major mutation MYH7-Val606Met accounted for 28.0% of cases. Mutations in GLA and PRKAG2 were found in three patients. Furthermore, we found 49 variants of unknown significance in 31 genes in 20.4% of cases. During a 6.7 +/- 4.2 year follow-up, annual all-cause mortality in 482 index patients and their relatives with HCM was higher than that in the matched Finnish population (1.70 vs. 0.87%; P <0.001). Sudden cardiac deaths were rare (n = 8). Systolic heart failure (hazard ratio 17.256, 95% confidence interval 3.266-91.170, P = 0.001) and maximal left ventricular wall thickness (hazard ratio 1.223, 95% confidence interval 1.098-1.363, P <0.001) were independent predictors of HCM-related mortality and life-threatening cardiac events. The patients with a pathogenic or likely pathogenic mutation underwent an implantable cardioverter defibrillator implantation more often than patients without a pathogenic or likely pathogenic mutation (12.9 vs. 3.5%, P <0.001), but there was no difference in all-cause or HCM-related mortality between the two groups. Mortality due to HCM during 10 year follow-up among the 5.2 million population of Finland was studied from death certificates of the National Registry, showing 269 HCM-related deaths, of which 32% were sudden. Conclusions We identified pathogenic and likely pathogenic mutations in 38% of Finnish patients with HCM. Four major sarcomere mutations accounted for 28% of HCM cases, whereas HCM-related mutations in non-sarcomeric genes were rare. Mortality in patients with HCM exceeded that of the general population. Finally, among 5.2 million Finns, there were at least 27 HCM-related deaths annually.Peer reviewe

Serum Lipidomics Meets Cardiac Magnetic Resonance Imaging: Profiling of Subjects at Risk of Dilated Cardiomyopathy

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Lamin A/C mutation affecting primarily the right side of the heart

LMNA mutations are amongst the most important causes of familial dilated cardiomyopathy. The most important cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) is desmosomal pathology. The aim of the study was to elucidate the role of LMNA mutations among Finnish cardiomyopathy patients. We screened 135 unrelated cardiomyopathy patients for LMNA mutations. Because of unusual phenotype, two patients were screened for the known Finnish ARVC-related mutations of desmosomal genes, and their Plakophilin-2b gene was sequenced. Myocardial samples from two patients were examined by immunohistochemical plakoglobin staining and in one case by electron microscopy. We found a new LMNA mutation Phe237Ser in a family of five affected members with a cardiomyopathy affecting primarily the right side of the heart. The phenotype resembles ARVC but does not fulfill the Task Force Criteria. The main clinical manifestations of the mutation were severe tricuspid insufficiency, right ventricular enlargement and failure. Three of the affected patients died of the heart disease, and the two living patients received heart transplants at ages 44 and 47. Electron microscopy showed nuclear blebbing compatible with laminopathy. Immunohisto - chemical analysis did not suggest desmosomal pathology. No desmosomal mutations were found. The Phe237Ser LMNA mutation causes a phenotype different from traditional cardiolaminopathy. Our findings suggest that cardiomyopathy affecting primarily the right side of the heart is not always caused by desmosomal pathology. Our observations highlight the challenges in classifying cardiomyopathies, as there often is significant overlap between the traditional categories.Peer reviewe