Landspítali University Hospital Research Archive
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A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada.
Full text linkTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadIntroduction: Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing research lacks information on the daily burden of living with Kabuki syndrome.
Methods: A survey collected caregiver- and patient-reported data about the experience of living with Kabuki syndrome in order to better understand its presentation and effect on patients and their psychosocial well-being.
Results: A total of 68 participants (n = 57 caregivers and n = 11 adolescents) were recruited from the USA and Canada. Caregiver survey participants reported developmental delays and lower IQ in individuals with Kabuki syndrome compared to the general population, as well as difficulty with cognitive-related tasks, need for educational accommodations, and difficulty with particular school subjects and with daily tasks. Additionally, participants reported significant emotional, social, and communication-related impacts of Kabuki syndrome. Adolescent data largely corroborated the information collected from caregivers, with the exception of adolescents reporting the emotional and social impacts as occurring less frequently.
Conclusions: Kabuki syndrome is a multidimensional disease which has substantial negative effects on physical, mental, emotional, and social aspects of health-related quality of life. This research adds to the limited existing body of literature on the clinical presentation of Kabuki syndrome and provides a novel perspective into the caregiver and adolescent perception of the burden of Kabuki syndrome.
Keywords: Adolescents; Caregivers; Humanistic burden; Kabuki syndrome; Patient burden; Patient research; Survey.Louma G. Foundation
Icelandic Research Fund
Icelandic Technology Development Fund
Takeda Pharmaceutical Company Lt
Improving Machine Learning Technology in the Field of Sleep.
No full textIcelandic Research FundThe authors discuss the challenges of machine- and deep learning-based automatic analysis of obstructive sleep apnea with respect to known issues with the signal interpretation, patient physiology, and the apnea-hypopnea index. Their goal is to provide guidance for sleep and machine learning professionals working in this area of sleep medicine. They suggest that machine learning approaches may well be better targeted at examining and attempting to improve the diagnostic criteria, in order to build a more nuanced understanding of the detailed circumstances surrounding OSA, rather than merely attempting to reproduce human scoring.
Keywords: Deep learning; Polysomnography; Sleep apnea; Sleep staging
Objective Measures of Cognitive Performance in Sleep Disorder Research.
No full textTo access publisher's full text version of this article click on the hyperlink belowNeurocognitive tests offer objective and reliable assessment of patients' status and progress. However, there is no consensus on how to use neurocognitive assessment in sleep disorder research. An effective use of neurocognitive assessment must be based on standardized practices and have a firm theoretic basis. The aim of this review is to offer an overview of how different tests have been used in the field, mapping each test onto a corresponding cognitive domain and propose how to move forward with a suggested cognitive battery of tests covering all major cognitive domains.
Keywords: Cognition; Cognitive domain; Cognitive test battery; Neurocognitive testing; Sleep disorders.European Union's Horizon 2020 research and innovation programme
NordForsk via the Icelandic Centre for Researc
Author Correction: GWAS of thyroid stimulating hormone highlights the pleiotropic effects and inverse association with thyroid cancer
No full textTo access publisher's full text version of this article click on the hyperlink belo
Effect of Soluplus® on γ-cyclodextrin solubilization of irbesartan and candesartan and their nanoaggregates formation
No full textTo access publisher's full text version of this article click on the hyperlink belowThe poor aqueous solubility of irbesartan (IRB) and candesartan cilexetil (CAC) may hamper their bioavailability when orally or topically administered. Among several attempts, the promising nanoaggregate formation by gamma-cyclodextrin (gamma CD) complexation of drugs in aqueous solution with or without water-soluble polymers was investigated. According to phase solubility studies, Soluplus (R) showed the highest complexation efficiency (CE) of drug/gamma CD complexes among the polymers tested. The aqueous solubility of IRB and CAC was markedly increased as a function of Soluplus(R) concentrations. The binary drug/gamma CD and ternary drug/gamma CD/Soluplus(R) complex formations were supported and confirmed by solid-state characterizations, including differential scanning calorimetry (DSC), powder X-ray diffraction (PXRD), and Fourier transform infrared (FT-IR) spectroscopy. The true inclusion mode was also proved by proton nuclear magnetic resonance (H-1-NMR) spectroscopy. The nanoaggregate size and morphology of binary and ternary systems were observed using dynamic light scattering (DLS), and transmission electron microscopy (TEM) techniques. The size of these nanocarriers depends on the concentration of Soluplus(R). The use of Soluplus(R) could significantly enhance drug solubility and stabilize complex nanoaggregates, which could be a prospective platform for drug delivery systems.program Eurostar of the European Union
Second Century Fund (C2F), Chulalongkorn Universit
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Full text linkTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBack pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10-39; ORdorsalgia = 0.92, P = 7.2 × 10-15) is with a 3'UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 - 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10-11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory processes.European Commission
European Commission Joint Research Centre
Novo Nordisk Foundation
Novocure Limite
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Full text linkTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadPredicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense variants with a complete deficit of homozygosity and find that their pathogenic effect in homozygous state ranges from severe childhood disease to early embryonic lethality. One of these variants is in CPSF3, a gene not previously linked to disease. From a set of clinically sequenced Icelanders, and by sequencing archival samples targeted through the Icelandic genealogy, we find four homozygous carriers. Additionally, we find two homozygous carriers of Mexican descent of another missense variant in CPSF3. All six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone. Here, we show how the absence of certain homozygous genotypes from a large population set can elucidate causes of previously unexplained recessive diseases and early miscarriage.Sacchi Foundatio
Dansmeðferð til að efla hreyfingu, vitræna færni og sálfélagslega líðan hjá einstaklingum með Parkinsonssjúkdóm: fræðileg samantekt
Full text linkTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadParkinsonssjúkdómur (PS) er langvinnur taugasjúkdómur
sem skerðir hreyfigetu og vellíðan. Ófyrirsjáanleiki
einkenna gerir það að verkum að einstaklingar með PS eiga
það til að draga sig í hlé og taka síður þátt í félagslegum
athöfnum. Dansmeðferð getur verið bæði gagnlegt
og skemmtilegt meðferðarúrræði til að spyrna á móti
sálfélagslegum afleiðingum sjúkdómsins og til að viðhalda
hreyfigetu. Í þessari grein verður niðurstöðum fræðilegrar
samantektar 18 rannsóknargreina með mismunandi
rannsóknarsniði lýst; eigindlegu (n=3), megindlegu (n=9) og
fýsileikarannsóknir (n=6) þar sem skoðaður er ávinningur
og útfærsla dansmeðferðar til að bæta hreyfigetu og líðan
hjá einstaklingum með PS. Auk þess ætlum við að draga
fram þætti sem þarf að hafa í huga þegar dansmeðferð
er skipulögð til þess að hún sé fýsileg, örugg og skili sem
mestum ávinningi
Stress and burnout among nursing students during their final year at University of Iceland and University of Akureyri
No full textTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadBakgrunnur: Sýnt hefur verið fram á að hjúkrunarfræðinemar sem finna fyrir einkennum streitu og kulnunar á námstímanum, eru líklegri til að glíma við streitu og kulnunareinkenni eftir útskrift og eru jafnframt líklegri til að hætta í starfi en þeir sem ekki finna fyrir þessum einkennum.
Tilgangur: Að lýsa námi og framtíðaráformum, almennri og námstengdri streitu, bjargráðum og kulnun hjá lokaárs hjúkrunarfræðinemum á Íslandi; skoða samband almennrar streitu og kulnunar innbyrðis og við nám, framtíðaráform, og bakgrunnsbreytur; greina áhrifaþætti streitu, persónutengdrar og námstengdrar kulnunar og kulnunar tegndri samnemendum.
Aðferð: Megindleg með lýsandi könnunarsniði. Mæltiækin Perceived Stress Scale (PSS) og Copenhagen Burnout Inventory (CBI) mældu einkenni streitu og kulnunar. Línuleg aðhvarfsgreining var notuð til að greina áhrifaþætti streitu og kulnunar.
Niðurstöður: Þátttakendur voru 82 (72,6% svörun). Meðaltalsstig á PSS var 17,8 á kvarða frá 9-40, á persónutengdri kulnun 42,9, á námstengdri kulnun 56,9 og á kulnun tengdri samnemendum 31,2 á kvörðum frá 0-100. Meirihluti nemenda fann fyrir mikilli streitu sem tengdist háskólanáminu sjálfu (85%) og skorti á námsleiðbeiningum (57%).
Fjórar aðhvarfsgreiningar voru unnar. Spálíkan 1 sýndi að nemendur sem telja sig fá lítinn/engan stuðning við námið og litlar/engar námsleiðbeiningar eru líklegri til að hafa hærra meðaltalsstig á PSS (r2=17,2). Spálíkan 2 sýndi að nemendur sem eru 30 ára og eldri eru líklegri til að hafa hærra meðaltalsstig á kvarðanum kulnun tengdri samnemendum (r2=8,1). Spálíkan 3 sýndi að nemendur með mikla/mjög mikla streitu tengda ástundun háskólanáms og samskiptum við kennara eru líklegri til að hafa hærra meðaltalsstig á kvarðanum um námstengda kulnun (r2=34,8). Líkan 4 sýnir að nemendur sem hafa fleiri stig á PSS eru líklegri til að hafa hærri meðaltalsstig á kvarðanum um persónutengda kulnun
(r2=30,6).
Ályktun: Hjúkrunarfræðinemar á lokaári upplifa streitu og kulnun í námi. Mikilvægt er finna leiðir til að fyrirbyggja og meðhöndla streitu og draga úr kulnun meðan á náminu stendur.Background: Nursing students have been shown to experience
symptoms of stress and burnout during their
studies, are more likely to struggle with symptoms
of stress and burnout post-graduation, and are also
more likely to leave their jobs than those who do
not experience these symptoms.
Purpose: To describe nursing students’ education and future
plans, general and academic stress and burnout
during their final year of study in Iceland; examine
the relationship between stress and burnout with
studies, future plans, and background and analyze
what influences stress, personal and academic
burnout, and burnout related to fellow students.
Method: Descriptive, quantitative survey. Instruments the
Perceived Stress Scale (PSS) and Copenhagen
Burnout Inventory (CBI) measured symptoms of
stress and burnout. Main Results: Linear regression analysis was
used to detect what influences stress and burnout.
Participants were 82 (72.6% response). The mean
score on PSS was 17.8 (range 9-40), on personal
burnout 42.9, on educational burnout 56.9 and
on burnout related to fellow students 31.2 (the
scales range from 0 to 100). Majority of students
experienced high levels of stress related to their
academic study (85%) and lack of study guidelines
(57%). Four regression analyses were employed.
Model 1 showed that students who report that they
receive little/no support in their studies and little/
no study instructions are more likely to have a
higher mean score on PSS (r2=17.2). Model 2 showed
that students who are 30 years and older are more
likely to have a higher mean score on the burnout
scale related to fellow students (r2=8.1). Model 3
showed that students with high/very high stress
related to academic study and communication with
teachers are more likely to have a higher mean
score on the educational burnout scale (r2=34.8).
Model 4 shows that students who have higher
scores on PSS are likelier to have higher mean
scores on the personal burnout scale (r2= 30.6).
Conclusion: Nursing students experience stress and burnout
during their final year of education. It is important
to find ways to prevent and treat stress and reduce
burnout among nursing students during their studies.Rannsóknasjóður Háskóla Ísland
Rural patients' experience of education, surveillance, and self-care support after heart disease related hospitalisation: a qualitative study.
Full text linkTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadPeople living in rural Iceland have a higher rate of cardiovascular risk factors and healthcare utilisation compared to people in urban areas.The aim of this qualitative study was to explore the experiences of people with coronary heart disease, living in rural Iceland regarding patient education, surveillance, and self-care support. The participants (N = 14, age 52‒79 years, 8 male), were interviewed 6 to 12 months after hospital discharge following a cardiac event (in 2018‒2019). Systematic text-condensation was used for analysis. The findings were categorised into three main themes: Education and support describes inadequate patient education and support from health-care professionals after discharge from hospitaland how the internet was the main information source supplemented with spouse's and family support. Local healthcare services describe thelack of and importance of access to health-care professionals, stable services, and underutilisation of telemedicine and primary healthcare in the local area, and Self-care behaviour describes the lack of professional support with lifestyle changes and how the participants manage self-care as well as their attitudes towards the disease.The results indicate that access to continuous healthcare services and person-centred support focusing on prevention strategies are widely impaired in rural areas in Iceland.Icelandic Regional Development Institute
University of Akureyri Research Fund
The Icelandic Nurses' Association Research Fun