Landspítali University Hospital Research Archive
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Langlífi og heilbrigðisþjónusta
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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
No full textTo access publisher's full text version of this article click on the hyperlink belowInborn errors of metabolism (IEM) involving the non-oxidative pentose phosphate pathway (PPP) include the two relatively rare conditions, transketolase deficiency and transaldolase deficiency, both of which can be difficult to diagnosis given their non-specific clinical presentations. Current biochemical testing approaches require an index of suspicion to consider targeted urine polyol testing. To determine whether a broad-spectrum biochemical test could accurately identify a specific metabolic pattern defining IEMs of the non-oxidative PPP, we employed the use of clinical metabolomic profiling as an unbiased novel approach to diagnosis. Subjects with molecularly confirmed IEMs of the PPP were included in this study. Targeted quantitative analysis of polyols in urine and plasma samples was accomplished with chromatography and mass spectrometry. Semi-quantitative unbiased metabolomic analysis of urine and plasma samples was achieved by assessing small molecules via liquid chromatography and high-resolution mass spectrometry. Results from untargeted and targeted analyses were then compared and analyzed for diagnostic acuity. Two siblings with transketolase (TKT) deficiency and three unrelated individuals with transaldolase (TALDO) deficiency were identified for inclusion in the study. For both IEMs, targeted polyol testing and untargeted metabolomic testing on urine and/or plasma samples identified typical perturbations of the respective disorder. Additionally, untargeted metabolomic testing revealed elevations in other PPP metabolites not typically measured with targeted polyol testing, including ribonate, ribose, and erythronate for TKT deficiency and ribonate, erythronate, and sedoheptulose 7-phosphate in TALDO deficiency. Non-PPP alternations were also noted involving tryptophan, purine, and pyrimidine metabolism for both TKT and TALDO deficient patients. Targeted polyol testing and untargeted metabolomic testing methods were both able to identify specific biochemical patterns indicative of TKT and TALDO deficiency in both plasma and urine samples. In addition, untargeted metabolomics was able to identify novel biomarkers, thereby expanding the current knowledge of both conditions and providing further insight into potential underlying pathophysiological mechanisms. Furthermore, untargeted metabolomic testing offers the advantage of having a single effective biochemical screening test for identification of rare IEMs, like TKT and TALDO deficiencies, that may otherwise go undiagnosed due to their generally non-specific clinical presentations.
Keywords: Developmental delay; Inborn error of metabolism; Metabolome; Pentose phosphateUnited States Department of Health & Human Services
National Institutes of Health (NIH) - USA
Takeda Next Generation Medical Biochemical Subspecialty Fellowship Gran
A nationwide study on hepatocellular carcinoma.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground & aims: Population based studies on the epidemiology of HCC are scarce. We aimed to compare CG (cirrhotic HCC group) with NCG (non-cirrhotic HCC group), analyze incidence, etiology and survival among patients diagnosed in Iceland in a population-based cohort. A previous study from Iceland (1984-1998) showed an incidence of HCC of 1.1/100.000, mostly with NCG.
Methods: A nationwide, population based retrospective study. Information on patients with HCC during 1998-2017 was obtained and medical records viewed.
Results: Overall 152 patients with HCC were identified. The mean incidence was 1.7/100.000 and increased by 8% annually. Alcohol and hepatitis C combined was more common as a risk factor in CG than in the NCG (13 % vs. 2%, p = 0.03). Tumor size was larger in NCG (11 cm vs 5 cm, p < 0.01) and portal vein thrombosis less common (11 % vs. 30 %, p = 0.03). Overall, 44 % in NCG underwent surgical treatment vs. 23 % in CG (p = 0.02). The proportion of patients diagnosed by surveillance in 1998-2007 was 3% and 19 % in 2008-2017 (p = 0.03). The disease specific median survival for cirrhotic patients diagnosed by surveillance was 519 days and 86 days in other cirrhotic patients, hazard ratio 0.45 (p = 0.007, CI 0.25-0.81).
Conclusions: A major increase in the incidence of patients with HCC has occurred. The non-cirrhotic HCC presented with larger size tumors, lower proportion of portal vein thrombosis and were more likely to be surgical candidates, although not affecting prognosis. Diagnosis by surveillance in patients with cirrhosis has increased and the survival of those patients is better compared to others.
Keywords: Cirrhosis; Epidemiology; Hepatocellular carcinoma; Non-cirrhotic etiology
Development and Validation of a Prediction Model for 6-Month Societal Costs in Older Community Care-Recipients in Multiple Countries; the IBenC Study
Get PDFTo 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 DownloadThis study aims to develop and validate a prediction model of societal costs during a period of 6-months in older community care-recipients across multiple European countries. Participants were older community care-recipients from 5 European countries. The outcome measure was mean 6-months total societal costs of resource utilisation (healthcare and informal care). Potential predictors included sociodemographic characteristics, functional limitations, clinical conditions, and diseases/disorders. The model was developed by performing Linear Mixed Models with a random intercept for the effect of country and validated by an internal-external validation procedure. Living alone, caregiver distress, (I)ADL impairment, required level of care support, health instability, presence of pain, behavioural problems, urinary incontinence and multimorbidity significantly predicted societal costs during 6 months. The model explained 32% of the variation within societal costs and showed good calibration in Iceland, Finland and Germany. Minor model adaptations improved model performance in The Netherland and Italy. The results can provide a valuable orientation for policymakers to better understand cost development among older community care-recipients. Despite substantial differences of countries' care systems, a validated cross-national set of key predictors could be identified.European Commission
European Commission Joint Research Centr
Vitamin D status before and after metabolic and bariatric surgery at Landspitali
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 DownloadTILGANGUR
Langtímaárangur efnaskiptaaðgerða hjá einstaklingum með offitu er
almennt góður, með tilliti til þyngdartaps, fylgisjúkdóma offitu og lífsgæða. Hins vegar geta aðgerðirnar aukið líkur á næringarefnaskorti.
Markmið rannsóknarinnar var að kanna D-vítamínbúskap einstaklinga
fyrir og eftir efnaskiptaaðgerðir á Landspítala.
EFNIVIÐUR OG AÐFERÐIR
Upplýsingar um mælingar á S-25(OH)D og kalkkirtilshormóni (PTH)
voru fengnar úr sjúkraskrám þeirra sem fóru í efnaskiptaaðgerð á
Landspítala á árunum 2001-2018 (n=539). Vegna breytinga á mæliaðferð á rannsóknartímabilinu var ófullnægjandi D-vítamínstaða
skilgreind sem styrkur 25hydroxyvitamin D (25(OH)D) <45 nmól/L á
árunum 2001-2012, en <50 nmól/L 2013-2018. D-vítamínskortur var
skilgreindur sem 25(OH)D <30 nmól/L fyrir bæði tímabilin. Sjúklingar
fá ráðleggingar um töku fæðubótarefna við útskrift og við endurkomur
á móttöku efnaskiptaaðgerða á Landspítala.
NIÐURSTÖÐUR
Meðalstyrkur 25(OH)D fyrir aðgerð var 51 nmól/L (SF 30 nmól/L) og
reyndust 278 (52%) vera með ófullnægjandi D-vítamínstöðu, þar af
fjórðungur með D-vítamínskort. Styrkur 25(OH)D hækkaði eftir aðgerð
hjá meirihluta einstaklinga (85%). Um þriðjungur einstaklinga sem
mældist með ófullnægjandi D-vítamínstöðu fyrir aðgerð mældist einnig
undir viðmiðum allt að 18 mánuðum eftir aðgerð. Þegar borin eru
saman tímabilin 2001-2012 annars vegar og 2013-2018 hins vegar sést
að ófullnægjandi D-vítamínstaða var óalgengari á síðara tímabilinu, en
þó enn til staðar í um það bil 25% tilvika fyrir aðgerð og 8,5% 18 mánuðum eftir aðgerð.
ÁLYKTUN
Nokkuð algengt er að D-vítamínstaða einstaklinga á leið í efnaskiptaaðgerð sé ófullnægjandi, en styrkur 25(OH)D hækkar eftir aðgerð hjá
meirihluta þeirra í kjölfar ráðlegginga um töku bætiefna. Niðurstöðurnar benda til þess að ástæða sé til að leggja aukna áherslu á leiðréttingu
D-vítamínskorts fyrir efnaskiptaaðgerðir.INTRODUCTION: Long-term results from bariatric surgery amongst individuals with obesity is considered good in general, with regard to weight loss,
complications of obesity or quality of life. However, risk of nutrient deficiency
might be increased. The aim of the study was to assess vitamin D status of patients before and after metabolic and bariatric surgery at Landspitali.
METHODS: Data on 25(OH)D concentration and parathyroid hormone (PTH) was
retrieved from medical records for patients undergoing metabolic and bariatric
surgery at Landspitali from 2001-2018 (n=539). Insufficient vitamin D status was
defined as 25(OH)D concentration <45 nmol/L in 2001-2012 but <50 nnmol/L
from 2013-2018, due to changes in analytical method during the study period.
Vitamin D deficiency was defined as 25(OH)D <30 nmol/L for both time periods.
Guidelines on supplement use are provided before discharge from the hospital
and up to 18 months after surgery,
RESULTS: Mean concentration of 25(OH)D before surgery was 51 nmol/L (SD
30 nmol/L) and 278 (52%) had insufficient vitamin D status, of which quarter
of subjects were defined as being vitamin D deficient. Concentration of 25(OH)
D increased after surgery in majority of subjects (85%). However, about third of
those defined as having insufficient vitamin D status before surgery still had
insufficient status 18 months after surgery. When comparing time periods, 2001-
2012 and 2013-2018 it can be seen that insufficient vitamin D status was less
common in the second period, although still persistent in about 25% of cases
before surgery and 8,5% 18 months after surgery.
CONCLUSION: Insufficient vitamin D status is relatively common before metabolic and bariatric surgery at Landspitali. In large majority of subjects, 25(OH)D
concentration increased after surgery, following recomendations on supplement
intake. The results highlight the need for greater emphasis on correcting possible nutrient deficiencies before surgeryRannsóknarsjóður offiturannsókna á Landspítal
An introduction to the sustained approach to myofascial release for the treatment of physical and psychogenic pain
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Integration of nursing services provided to patients with heart failure living at home: A longitudinal ethnographic study.
No full textAims and objectives: This study aimed to (1) describe the development of integrated services between hospital-based heart failure nursing services and municipally located home care nurses' services and (2) identify the benefits of this collaboration for the development of home care nursing services.
Background: Governments have called for better integration of healthcare services to respond to demographic ageing. Clinical pathways have been used to enhance integration and assure continuity between primary and secondary care. Competencies in addressing advanced health issues among home care nurses must be improved.
Design: A longitudinal ethnographic study of the development of home care nursing services for persons living with heart failure.
Methods: Data were field notes from observations at meetings of the steering group designing the services, visits to patients' homes and from educational sessions. Interviews were conducted with the home care nurses, heart failure nurses and focus group meetings with nurses working in home care nursing. Reporting adhered to the Consolidated Criteria for Reporting Qualitative Studies checklist.
Results: In a collaborative project, nurses from the two settings developed nursing services to address signs indicating exacerbation of heart failure and risk of hospital visits, involving advanced heart failure monitoring and treatment in patients' homes. A clinical pathway was developed to assure effective assessment of patients' condition. The home care nurses gained new knowledge and developed work practices that called for different competencies. Access to consultation from specialised heart failure nurses was instrumental in this transition.
Conclusions: The development of nursing services by integrating primary and secondary services facilitates translation of knowledge, competencies and understandings between nurses at different settings. Such integration can foster expertise in nursing services.
Relevance to clinical practice: The transfer of specialised healthcare services to primary care facilitates collaboration and sharing of knowledge, understanding and work practices.
Keywords: advanced practice nurses; competencies; ethnography; expertise; heart failure; home care nurses; integrated services; knowledge; trans-situational.University of Icelan
The applications of transcranial Doppler in ischemic stroke.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: This overview provides a summary of the applications of transcranial Doppler (TCD) in ischemic stroke.
Results: A fast-track neurovascular ultrasound protocol has been developed for detecting occlusion or stenosis. The technique is more reliable in the carotid area than in the posterior circulation. By monitoring the pulsatility index the in-crea-sed intracranial pressure can be diagnosed. TIBI score was developed for grading residual flow. TCD has been shown to accurately predict complete or any recanalization. Regarding recanalization, TCD has a sensitivity of 92%, a specificity of 88%, a positive predictive value of 96%, a negative predictive value of 78% and an overall accuracy of 91%, respectively. Sonothrombolysis seemed to be a promising application but randomized controlled trials have shown that it does not improve clinical outcome. TCD examination can detect microembolic signals (MES) which are associated with an increased risk of stroke. Micro-em-boli were detected in symptomatic and asymptomatic carotid artery stenosis and during carotid endarterectomy. The number of microemboli can be decreased by antithrombotic therapy. Contrast en-chan-ced examination and Valsalva maneuver with continuous TCD monitoring can accurately screen for right-to-left shunt.
Keywords: ischemic stroke; stroke; transcranial Doppler; ultrasound.National Research, Development and Innovation Fund
Hungarian Academy of Sciences (MTA-DE Cerebrovascular and Neurodegenerative Research Group
Útivist og heilsa - Förum út saman!
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Acute gastrointestinal bleeding among patients on antiplatelet and anticoagulant therapy after percutaneous coronary intervention.
No full textTo access publisher's full text version of this article click on the hyperlink belowBackground: Patients undergoing percutaneous coronary intervention (PCI) require dual antiplatelet therapy and some require additional anticoagulation. We aimed to investigate the incidence of acute gastrointestinal bleeding (AGIB) among PCI patients receiving antiplatelet and anticoagulant therapy.
Methods: A population-based study that included all patients undergoing PCI during 2008-2016 in Iceland. Data from the Icelandic Medicines Registry were obtained on all outpatient prescriptions 1 year after first PCI. Patients receiving single or dual-antiplatelet therapy with or without anticoagulation cotherapy were analyzed. Rehospitalization for AGIB and endoscopic data were obtained within the 12-month follow-up period.
Results: A total of 5166 patients (male 75%) underwent PCI during the study period. The incidence of AGIB was 1% (54/5166) per year. The mean age among non-bleeders 65 (±11) years was lower than among bleeders 69 (±9) years (p = .002). The proportion of acute upper GIB (AUGIB) was 56%, whereas lower GIB occurred in 44%. Overall, 41% with AUGIB had PPIs compared to 39% of non-bleeders (NS). The incidence of AGIB among patients on single antiplatelet therapy combined with an anticoagulant was 2.5% compared to 0.9% among those on single antiplatelet treatment alone (p = .028). The number needed to harm (NNH) for treatment with single antiplatelet therapy and anticoagulant therapy compared to single antiplatelet therapy was 62 but no deaths related to AGIB.
Conclusions: The 1-year incidence of AGIB was low with no mortality. Bleeding risk was found to be higher among patients on single antiplatelet therapy combined with anticoagulant therapy compared to patients on single antiplatelet therapy alone.
Keywords: Acute gastrointestinal bleeding; anticoagulant therapy; antiplatelet therapy; dual antiplatelet therapy; incidence; number needed to harm; percutaneous coronary intervention