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    Gastroschisis and omphaloceleIncidence and outcome

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    Publisher Copyright: © 2024 Laeknafelag Islands. All rights reserved.INNGANGUR Kviðarklofi (gastroschisis) og naflastrengshaull (omphalocele) eru algengustu meðfæddu gallarnir á kviðvegg. Megintilgangur rannsóknarinnar var að kanna nýgengi, aðra meðfædda galla og sjúkdómsgang þessara sjúkdóma hér á landi. EFNIVIÐUR OG AÐFERÐIR Rannsóknin var afturskyggn. Þýðið var þeir nýburar sem lögðust inn á Vökudeild Barnaspítala Hringsins vegna kviðarklofa eða naflastrengshauls 1991-2020. Einnig voru höfð með þau fóstur með sömu greiningar þar sem meðgangan endaði með fósturláti eða þungunarrofi. NIÐURSTÖÐUR Á rannsóknartímabilinu fæddust á Íslandi 54 börn með kviðarklofa og fimm með naflastrengshaul. Nýgengi kviðarklofa var 4,11 og naflastrengshauls 0,38/10.000 fæðingar. Ekki reyndist marktæk breyting á nýgengi sjúkdómanna á tímabilinu. Einnig greindust fimm fóstur með kviðarklofa og 31 með naflastrengshaul þar sem meðgangan endaði með fósturláti eða þungunarrofi. Algengustu aðrir gallar hjá börnum og fóstrum með kviðarklofa voru í meltingarfærum eða þvagfærum, en hjarta, miðtaugakerfi og stoðkerfi hjá þeim með naflastrengshaul, og voru gallarnir alvarlegri í síðarnefnda hópnum. Af fóstrum með naflastrengshaul voru 16 með þrístæðu 18. Mæður 16-20 ára voru líklegri til að eignast barn með kviðarklofa en eldri mæður (p<0,001). Tafarlaus lokun heppnaðist hjá 86% barnanna. Þau komust marktækt fyrr á fullt fæði og útskrifuðust fyrr. Lifunarhlutfall var 95%. Þrjú börn voru enn að fá næringu í æð við útskrift vegna of stuttra þarma. ÁLYKTANIR Nýgengi kviðarklofa hér á landi er í samræmi við erlendar rannsóknir, en nýgengi naflastrengshauls er lægra, sem skýrist að hluta af þungunarrofum. Aðrir fæðingargallar tengdir naflastrengshaul eru alvarlegri en þeir sem tengjast kviðarklofa. Sjúkdómsgangur er auðveldari þegar næst að loka kviðveggnum í fyrstu aðgerð. Börn með kviðarklofa geta þurft langvarandi næringu í æð vegna of stuttra þarma. INTRODUCTION: Gastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated anomalies and the course of these diseases in Iceland. MATERIAL AND METHODS: The study was retrospective. The population was all newborns who were admitted to the NICU of Children's Hospital Iceland due to gastroschisis or omphalocele in 1991-2020. Furthermore, all fetuses diagnosed prenatally or post mortem where the pregnancy ended in spontaneous or induced abortion, were included. RESULTS: During the study period, 54 infants were born with gastroschisis and five with omphalocele. The incidence of gastroschisis was 4.11 and omphalocele 0,38/10,000 births. There was no significant change in the incidence of the diseases during the study period. In addition, five fetuses were diagnosed with gastroschisis and 31 with omphalocele where the pregnancy was terminated. In addition to gastroschisis in the live born infants and fetuses the most common associated anomalies were in the gastrointestinal or urinary tract but in infants and fetuses with omphalocele anomalies of the cardiac, central nervous or skeletal systems were the most common. Sixteen fetuses diagnosed with omphalocele had trisomy 18. Mothers aged 16-20 were more likely to give birth to an infant with gastroschisis than older mothers (p< 0.001). Primary closure was successful in 86% of the infants. Those reached full feedings significantly earlier and were discharged earlier. Overall survival rate was 95%. Three children were still receiving parenteral nutrition at discharge due to short bowel syndrome. CONCLUSIONS: The incidence of gastroschisis in Iceland is in accordance with studies in other countries but but the incidence of omphalocele is lower, which can be partly explained by spontaneous or induced abortions. Other anomalies associated with omphalocele are more severe than those associated with gastroschisis. Primary closure was associated with more benign course. Children with gastroschisis may need prolonged parenteral nutrition due to shortening of their intestines.Peer reviewe

    Prevalence of Food Insecurity and Associations with Academic Performance, Food Consumption and Social Support among University Students during the COVID-19 Pandemic: FINESCOP Project in Iceland

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    (1) Background: Food insecurity (FI) among university students has received less attention in Europe than in other regions before and during the COVID-19 pandemic. (2) Methods: A cross-sectional study was conducted between January and March 2022 using an online questionnaire (n = 924). The questionnaire addressed food security status; demographic, socioeconomic, and educational variables; academic performance; food consumption; and social support networks. The validated Food Insecurity Experience Scale was used to measure food security. Binary logistic regressions adjusted by age and gender were applied to identify FI-related factors. (3) Results: Just over 17% of the students were living with some level of FI, nearly one in three students reported having consumed few kinds of food, and 3.9% spent an entire day without eating due to a lack of resources. Food insecurity was associated with a higher likelihood of negative academic performance, decreased food consumption, and a lower likelihood of having a large support network, when compared to food-secure respondents. (4) Conclusions: The findings suggest that FI negatively impacts students’ academic performance and food consumption. Future public health programs should be prioritized to prevent students from experiencing hunger due to financial or resource constraints.Peer reviewe

    Recommendations for asthma monitoring in children : A PeARL document endorsed by APAPARI, EAACI, INTERASMA, REG, and WAO

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    Publisher Copyright: © 2024 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.Monitoring is a major component of asthma management in children. Regular monitoring allows for diagnosis confirmation, treatment optimization, and natural history review. Numerous factors that may affect disease activity and patient well-being need to be monitored: response and adherence to treatment, disease control, disease progression, comorbidities, quality of life, medication side-effects, allergen and irritant exposures, diet and more. However, the prioritization of such factors and the selection of relevant assessment tools is an unmet need. Furthermore, rapidly developing technologies promise new opportunities for closer, or even “real-time,” monitoring between visits. Following an approach that included needs assessment, evidence appraisal, and Delphi consensus, the PeARL Think Tank, in collaboration with major international professional and patient organizations, has developed a set of 24 recommendations on pediatric asthma monitoring, to support healthcare professionals in decision-making and care pathway design. (Figure presented.).Peer reviewe

    Roadmap to DILI research in Europe. A proposal from COST action ProEuroDILINet

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    Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.In the current article the aims for a constructive way forward in Drug-Induced Liver Injury (DILI) are to highlight the most important priorities in research and clinical science, therefore supporting a more informed, focused, and better funded future for European DILI research. This Roadmap aims to identify key challenges, define a shared vision across all stakeholders for the opportunities to overcome these challenges and propose a high-quality research program to achieve progress on the prediction, prevention, diagnosis and management of this condition and impact on healthcare practice in the field of DILI. This will involve 1. Creation of a database encompassing optimised case report form for prospectively identified DILI cases with well-characterised controls with competing diagnoses, biological samples, and imaging data; 2. Establishing of preclinical models to improve the assessment and prediction of hepatotoxicity in humans to guide future drug safety testing; 3. Emphasis on implementation science and 4. Enhanced collaboration between drug-developers, clinicians and regulatory scientists. This proposed operational framework will advance DILI research and may bring together basic, applied, translational and clinical research in DILI.Peer reviewe

    Early-onset group B streptococcal infections in five Nordic countries with different prevention policies, 1995 to 2019

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    Publisher Copyright: © 2024 European Centre for Disease Prevention and Control (ECDC). All rights reserved.BackgroundNeonatal early-onset disease caused by group B Streptococcus (GBS) is a leading cause of infant morbidity. Intrapartum antibiotic prophylaxis (IAP) is effective in preventing early-onset GBS disease, but there is no agreement on the optimal strategy for identifying the pregnant women requiring this treatment, and both risk-based prophylaxis (RBP) and GBS screening-based prophylaxis (SBP) are used.AimThe aim of this study was to evaluate the effect of SBP as a public health intervention on the epidemiology of early-onset GBS infections.MethodsIn 2012, Finland started the universal SBP, while Denmark, Iceland, Norway and Sweden continued with RBP. We conducted an interrupted time series analysis taking 2012 as the intervention point to evaluate the impact of this intervention. The incidences of early- and late-onset GBS infections during Period I (1995-2011) and Period II (2012-2019) were collected from each national register, covering 6,605,564 live births.ResultsIn Finland, a reduction of 58% in the incidence of early-onset GBS disease, corresponding to an incidence rate ratio (IRR) of 0.42 (95% CI: 0.34-0.52), was observed after 2012. At the same time, the pooled IRR of other Nordic countries was 0.89 (95% CI: 0.80-1.0), specifically 0.89 (95% CI: 0.70-1.5) in Denmark, 0.34 (95% CI: 0.15-0.81) in Iceland, 0.72 (95% CI: 0.59-0.88) in Norway and 0.97 (95% CI: 0.85-1.1) in Sweden.ConclusionsIn this ecological study of five Nordic countries, early-onset GBS infections were approximately halved following introduction of the SBP approach as compared with RBP.Peer reviewe

    Application of ChatGPT for automated problem reframing across academic domains

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    Publisher Copyright: © 2023 The Author(s)This paper explores the potential of large language models, specifically ChatGPT, to reframe problems from probability theory and statistics, making them accessible to students across diverse academic fields including biology, economics, law, and engineering. The aim of this study is to enhance interdisciplinary learning by rendering complex concepts more accessible, relevant, and engaging. We conducted a pilot study using ChatGPT to adapt problems across 17 disciplines, evaluated through expert review. Our results demonstrate the significant potential of ChatGPT in reshaping problems for diverse settings, preserving theoretical meaning in 77.1% of cases, and requiring no or only minor revisions in 74% of cases. An evaluation performed by 23 domain experts revealed that in 73.6% of cases the reframed problem was considered to add educational value compared to a corresponding abstract problem and to represent a real-world scenario in 57.0% of cases. Furthermore, a survey involving 44 Computer Science students revealed a diverse range of preferences between original and reframed problems, underscoring the importance of considering student preferences and learning styles in the design of educational content. The study offers insights into the practicality and efficacy of employing large language models, like ChatGPT, to enhance interdisciplinary education and foster greater student engagement and understanding.Peer reviewe

    Cross-Cultural Adaptation and Psychometric Testing of the Portuguese Version of the Iceland-Family Illness Beliefs Questionnaire

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    Publisher Copyright: © The Author(s) 2024.Illness beliefs have a role in the adaptation, coping, well-being, healing, and recovery in families of children/adolescents with chronic illness. The assessment of family illness beliefs can support family nursing interventions that address the suffering of family members when illness arises. The purpose of this study was to translate, cross-culturally adapt, and psychometrically test the Portuguese version of the Iceland-Family Illness Beliefs Questionnaire. A sample of 237 parents of children/adolescents who experienced chronic health conditions completed the online questionnaire. The original factor model was tested through confirmatory factorial analysis. The results showed satisfactory model fit indices (χ2/gl = 3.004; comparative fit index [CFI] = 0.90; root mean square error of approximation [RMSEA] = 0.092) and internal consistency (Cronbach's α = 0.74). The instrument showed good psychometric characteristics of validity and reliability, suggesting it may be useful in the assessment of illness beliefs in families experiencing a pediatric chronic illness.Peer reviewe

    The impact of low-carbon consumption options on carbon footprints in the Nordic region

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    Changes in personal consumption play an important role in the reduction of greenhouse gases (GHGs) to stay within the 1.5-degree warming carbon footprint budget. Affluent countries have high carbon footprints from a consumptive perspective and therefore have a high potential to reduce emissions from personal consumption. To study this potential, we look at the consumption-based carbon footprints of respondents from a carbon footprint calculator survey from the Nordic countries to compare the carbon footprints of those who participated in selected low-carbon consumption options to those that did not. The total sample size of the survey is 8,000 households. We analysed seven low-carbon consumption options within the domains of diet, transportation and housing energy. An input-output based hybrid assessment model was used to calculate the consumption-based carbon footprints. In addition to analysing these options separately, we also analysed them in combination. The lowest carbon footprints were associated with those respondents who did not own a car or had a vegan or vegetarian diet, and the largest difference in emissions was associated with not flying and not owning a car. Rebound effects for the consumption options were largely limited and were mostly not significant. Participation rates in the low-carbon consumption options were generally low. These results underscore the need for higher rates of adopting multiple low-carbon consumption options and can inform policy on which consumption options could be the most impactful.Icelandic Centre for Research RANNÍS (grant number 207195-052)Post-print (lokagerð höfundar

    KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans

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    Publisher Copyright: © 2023 by the authors.Individuals with Kabuki syndrome type 1 (KS1) often have hearing loss recognized in middle childhood. Current clinical dogma suggests that this phenotype is caused by frequent infections due to the immune deficiency in KS1 and/or secondary to structural abnormalities of the ear. To clarify some aspects of hearing loss, we collected information on hearing status from 21 individuals with KS1 and found that individuals have both sensorineural and conductive hearing loss, with the average age of presentation being 7 years. Our data suggest that while ear infections and structural abnormalities contribute to the observed hearing loss, these factors do not explain all loss. Using a KS1 mouse model, we found hearing abnormalities from hearing onset, as indicated by auditory brainstem response measurements. In contrast to mouse and human data for CHARGE syndrome, a disorder possessing overlapping clinical features with KS and a well-known cause of hearing loss and structural inner ear abnormalities, there are no apparent structural abnormalities of the cochlea in KS1 mice. The KS1 mice also display diminished distortion product otoacoustic emission levels, which suggests outer hair cell dysfunction. Combining these findings, our data suggests that KMT2D dysfunction causes sensorineural hearing loss compounded with external factors, such as infection.Peer reviewe

    Modelling CO2 hydrogenation reaction on Pt functionalized UiO-67 Metal-Organic Frameworks

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    Converting CO2 into value-added products via hydrogenation is of interest due to its potential to reduce and reuse excess atmospheric CO2 and deal with global warming. Metal-organic frameworks (MOFs) are of great interest in this conversion process due to their appealing properties, such as high specific surface area, porosity, and a tailorable structure and function. Platinum functionalized Zr-based UiO-67 MOFs are one such MOF that demonstrate high selectivity towards methanol formation in CO2 reduction reactions (CO2RR), outperforming other well-known metal-support catalysts. However, the CO2RR mechanisms in this catalytic system remain unclear and have been a topic of ongoing exploration. This dissertation investigates the catalytic properties and proposes mechanisms of CO2 hydrogenation on UiO-67 MOFs embedded with Platinum nanoparticles. In the first part of this study, density functional theory (DFT) calculations and micro-kinetic model were used along with experimental collaboration at the University in Oslo to investigate the role of missing linker defects on the Zr-nodes of UiO-67 MOF in the CO2 hydrogenation reaction. We found that increased linker defects on the Zr-node also increase methanol and methane formation rates. We also explored the influence of H2O on the CO2 hydrogenation reaction, where we found that dehydrated Zr-nodes show higher methanol and methane formation rates. Interestingly, water promotes methanol desorption and does not change the steady-state reaction rate but significantly inhibits methane formation. This finding suggests that water can increase the reaction selectivity to methanol. These discoveries provide a new perspective on the dynamic role of the Zr-node and the influence of water on the reaction. It was also shown that methanol is formed at the interface between the Pt NPs and defect Zr nodes via formate species attached to the Zr nodes, which is a novel finding and understanding of the mechanistic separation between the formation of methanol and the formation of co-products of CO gas and methane became necessary. These results were published in the Journal of the American Chemical Society in 2020. In the second part of this study, we employ DFT calculations to elucidate the CO2RR mechanism where free energy barriers were calculated between the most important intermediates from CO2 gas to all the products: methanol, methane, and CO gas. We used five different atomistic models in order to understand the activity of individual parts of the whole system. This showed that unique and different combinations of the Zr-clusters and the Pt NP interfaces are necessary for a selective production of CO and methane on one hand and for methanol on the other hand. Our findings, supported by experiments done at the University in Oslo, suggest that the synergistic interaction resulting at the interface between Zr-clusters and Pt nanoparticle´s edges play a crucial role in the reduction reaction to methanol but not to methane nor CO gas, which rather take place at the interface of Zr-clusters and flat (111) surfaces of the Pt NPs. Furthermore, it highlights the significance of understanding both individual components of the catalytic system and their interfaces in enhancing catalytic activity. The results show that smaller Pt NPs form more methanol, whereas larger Pt NPs form more methane and CO gas. Finally, we hope this research will have potential implications for developing more efficient and selective catalysts for CO2 hydrogenation to methanol. These results were published in ACS Catalysis in 2024.Að breyta CO2 í verðmæt efni með afoxun er áhugavert viðfangsefni þar sem hægt er að endnýta CO2 og lækka þar af leiðandi magn þess í andrúmslofti og leggja lið við að minnka loftlagsvánna. Stoðgrindir byggðar upp með málmlífrænum efnum (MOFs) eru áhugaverð að skoða í þessu samhengi vegna eiginleika þeirra svo sem hátt yfirborðsflatarmál sem og að hægt er að hanna byggingu þeirra og virkni á margvíslegan hátt. Platínu nanóagnir í zirkóníum UiO-67 MOFs er eitt slíkt kerfi sem hefur sýnt að hefur háa nýtni og stöðugleika til að mynda metanól í CO2 afoxunarhvarfinu (CO2RR) í mun meira magni en aðrir efnahvatar svo sem Pt nanóagnir á flötum yfirborðum. Hins vegar hefur hvarfgangurinn verið óljós hingað til en upp á síðkasti verið kannaður með ýmsum aðferðum. Þessi doktorsritgerð rannsakar hvarfgang CO2 afoxunar í UiO-67 MOFs sem innihalda Pt nanóagnir. Í fyrri hluta þessarar rannsóknar voru þéttnifellafræði (DFT) reikningar notaðir og hraðafræðilegt líkan þróað í samvinnu við tilraunahóp í Háskólanum í Osló til að rannsaka hlutverk veilna þar sem lífrænn tengihópur vantaði á Zr-nóðuna í UiO-67 MOF kerfinu fyrir afoxun CO2 hvarfsins. Við fundum út að þegar þessum veilum er fjölgað eykst bæði hraði metanóls og metans. Við rannsökuðum einnig áhrif vatns fyrir CO2RR, þar sem við fundum að þurari Zr-nóður leiða til hærri hraða á bæði myndun metanóls og metans . Athyglisvert þykir að vatn eykur frásog metanóls en breytir ekki jafnvægisástandshraðanum en kemur í veg fyrir myndun metans. Þessi niðurstaða sýnir að vatn getur aukið nýtni metanólsmyndunar. Þessar uppgötvanir gefa nýja sýn á hreyfifræðilegt hlutverk Zr-nóða og áhrif vatns á hvarfið. Einnig sýndum við fram á að metanól er myndað á skilfleti milli Pt nanóagna og Zr-nóðu með veilu í gegnum milliefnið OCHO (formate) bundið við Zr-nóðu sem er ný vitneskja. Skilningur á þessum hvarfgangi og aðskilnaði á hvarfleiðum í átt að metanóli og hliðarhvarfa í átt að CO og metans var nauðsynlegur. Þessar niðurstöður voru birtar í tímaritinu Journal of the American Chemical Society árið 2020. Í seinni hluta rannsóknarinnar notuðum við einnig DFT reikninga til að skilja til hlýtar CO2RR hvarfganginn þar sem virkjunarhólar voru reiknaðir á milli helstu milliefna frá CO2 gasi í öll myndefnin; metanól, metan og CO gas. Hér notuðum við fimm mismunandi atómlíkön til að skilja virkni hinna ýmsu staða í heildarkerfinu. Þar sýndum við að sérstök og mismunandi samskeyti milli Zr-klasans og Pt agnarinnar eru nauðsynleg fyrir sértæka myndun á CO gasi og metani annars vegar og fyrir metanól hins vegar. Niðurstöður okkar, sannreyndar með tilraunum í samstarfi við Háskólann í Osló, sýna að samverkandi samspil milli Zr-klasans og sérstakra veilna (brúnir/þrep/jaðrar/kantar) á Pt ögninni hefur lykiláhrif á afoxunarhvarfið og myndun á metanóli en ekki metans né CO gass sem á sér stað á skilfleti milli Zr-klasanna og flatra (111) yfirborða Pt nanóagnanna. Þar að auki sýnir þessi rannsókn hversu mikilvægt er að skilja alla mismunandi hluta kerfisins eina og sér og til hlýtar sem og skilfletina á milli þessara hluta heildar kerfisins til að hægt sé að auka hvatavirknina. Niðurstöðurnar benda til að minni Pt agnir mynda meira metanól en stærri Pt agnir mynda metan og CO gas frekar. Að lokum vonum við að þessi rannsókn megi leiða til að hægt sé að hanna betri og virkari efnahvata fyrir afoxun CO2 í metanól. Þessar niðurstöður voru birtar í tímaritinu ACS Catalysis árið 2024


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