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Hirsla is an open access repository, designed as a place to store, index, preserve and redistribute in digital format scholarly work of Landspitali employees. (A/H1N1)
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MAP1B mutations cause intellectual disability and extensive white matter deficit.(Nature Publishing Group, 2018-08-27)Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (β = -2.1SD, P = 5.1 × 10
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis.(BMJ Publishing Group, 2018-01-01)Primary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications. We collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients-obtained using the Illumina immunochip-with their disease subphenotypes. Using logistic regression and Cox proportional hazards models, we identified genetic variants associated with binary and time-to-event PSC subphenotypes. We identified genetic variant rs853974 to be associated with liver transplant-free survival (p=6.07×10 We present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene
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Systems analysis of metabolism in platelet concentrates during storage in platelet additive solution.(Portland Press, 2018-07-17)Platelets (PLTs) deteriorate over time when stored within blood banks through a biological process known as PLT storage lesion (PSL). Here, we describe the refinement of the biochemical model of PLT metabolism, iAT-PLT-636, and its application to describe and investigate changes in metabolism during PLT storage. Changes in extracellular acetate and citrate were measured in buffy coat and apheresis PLT units over 10 days of storage in the PLT additive solution T-Sol. Metabolic network analysis of these data was performed alongside our prior metabolomics data to describe the metabolism of fresh (days 1-3), intermediate (days 4-6), and expired (days 7-10) PLTs. Changes in metabolism were studied by comparing metabolic model flux predictions of iAT-PLT-636 between stages and between collection methods. Extracellular acetate and glucose contribute most to central carbon metabolism in PLTs. The anticoagulant citrate is metabolized in apheresis-stored PLTs and is converted into aconitate and, to a lesser degree, malate. The consumption of nutrients changes during storage and reflects altered PLT activation profiles following their collection. Irrespective of the collection method, a slowdown in oxidative phosphorylation takes place, consistent with mitochondrial dysfunction during PSL. Finally, the main contributors to intracellular ammonium and NADPH are highlighted. Future optimization of flux through these pathways provides opportunities to address intracellular pH changes and reactive oxygen species, which are both of importance to PSL. The metabolic models provide descriptions of PLT metabolism at steady state and represent a platform for future PLT metabolic research.
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Frá bræðralagi til fagmennsku. Siðferðileg viðmið íslenskra lækna í hundrað ár. Vilhjálmur Árnason(Læknafélag Íslands, 2018-09)Læknar hafa frá öndverðu haft siðferðileg viðmið í starfi sínu. Elsta og þekktasta dæmið er eiðurinn sem kenndur er við gríska lækninn Hippókrates (460-370 f. Kr.). Segja má að hinn siðferðilegi kjarni eiðsins sé fólginn í þessu ákvæði: „Ég heiti því að beita læknisaðgerðum til líknar sjúkum, eftir því sem ég hef vit á og getu til, en aldrei í því skyni að valda miska eða tjóni.“1 Hér er velferð sjúklingsins í fyrirrúmi og enn er vísað til kröfunnar primum non nocere, umfram allt valdið ekki miska, sem meginsiðareglu læknislistarinnar. Samkvæmt nútímalegri greiningu á siðareglum eru slík ákvæði um að gæta hagsmuni sjúklinga hluti af frumskyldum lækna.2,3 Aðrir meginflokkar siðareglna eru félagslegar skyldur við almenning og samfélag, hæfniskyldur að viðhalda þekkingu og færni og skyldur gagnvart starfssystkinum (stundum nefndar bróðurlegar skyldur).
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Ormur í auga og endurteknar bólgur á útlimum - Sjúkratilfelli(Læknafélag Íslands, 2018-09)Lýst er tveimur tilfellum af lóasýki hjá konum búsettum hér á landi, 35 ára konu sem fæddist í Afríku og 31 árs konu sem hafði ferðast um Afríku. Þær leituðu til læknis vegna óþæginda frá auga. Við skoðun sást í báðum tilfellum ormur, um 3 cm á lengd og 0,5 mm á breidd, sem hreyfðist undir slímhúð augans. Báðar konurnar höfðu einnig einkenni frá útlimum: endurteknar lotubundnar bólgur og kláða, og vöðvaverki. Greiningin var í báðum tilfellum lóasýki með Calabar-bólgum á útlimum og meðferð með albendazóli og díetýlcarbamazíni leiddi til lækningar. Aukinnar árvekni er þörf gagnvart sýkingum sem hafa verið sjaldgæfar í okkar heimshluta hingað til.
