How do we sense pain? The Nobel Prize in Physiology or Medicine 2021

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Scrapie of sheep and Creutzfeldt-Jakob disease in Iceland

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Scrapie of sheep and Creutzfeldt-Jakob disease (CJD) are both classified as prion diseases. The infectious agents of both diseases are closely related. The objectives of the study was to explore, whether sheep scrapie could be transmitted to humans and cause CJD. Material and methods: The occurrence of CJD was studied in a period of 40 years, 1960 to 2000. The first part of the study, which was started in 1980, was retrospective. Hospital records from the Department of Neurology of the National Hospital from the years 1960-1980 were scrutinised and paraffin blocks from the collection of the Department of Pathology from cases with the diagnosis CJD and some suspect cases were obtained and analysed. The latter part of the study was prospective, which gave the possibility to study codon 129 of PRNP gene and characterise the strain of the infectious agent. Information on the epidemiology of scrapie in Iceland and of the diet of Icelanders was collected. Results: Four cases of CJD were detected in the 40 years studied, which corresponds to an incidence of 0.44 per million inhabitants, which is less than half the average incidence in 18 other European countries in the years 1997-2004. Conclusion: The low incidence of CJD in Iceland does not indicate that sheep scrapie can be transmitted to humans and cause CJD. If this were the case, we would have excpected an higher incidence of CJD and possibly atypical cases, as the Icelandic population has been exposed to scrapie for 130 years. Keywords: prions, sheep scrapie, Creutzfeldt-Jakob disease, epidemiology. Correspondence: Gudmundur Georgsson, [email protected]: Sauðfjárriða og Creutzfeldt-Jakob sjúkdómur (CJD) hjá mönnum teljast til príonsjúkdóma og smitefni þeirra eru náskyld. Leitað var svara við spurningunni hvort sauðfjárriða gæti borist í menn og valdið CJD. Efniviður og aðferðir: Skimað var fyrir CJD á 40 ára tímabili, 1960-2000. Afturskyggn rannsókn hófst 1980. Sjúkraskrár taugasjúkdómadeildar Landspítalans frá árunum 1960-1980 voru kannaðar. Rannsakaðir voru vefjabitar (vaxkubbar) úr safni rannsóknar­stofu HÍ við Barónsstíg af tilfellum, sem höfðu verið greind sem CJD eða rökstuddur grunur var um þá greiningu.Við framskyggnu rannsóknina 1980-2000 gafst einnig færi á að kanna tákna 129 í erfðaefni príons og auðkenna stofn smitefnis. Teknar voru saman upplýsingar um faraldsfræði riðu og neysluvenjur landans kannaðar. Niðurstöður: 4 tilfelli af CJD voru greind á þessum 40 árum, tvö á hvoru tímabili. Árleg dánartíðni var 0,44 á milljón íbúa. Ályktun: Þar eð tíðnin hérlendis er ríflega helmingi lægri en meðaltalstíðni í 18 öðrum Evrópulöndum á tímabilinu 1997-2004, sem var 1,11 á milljón íbúa, teljum við næsta víst að sauðfjárriða berist ekki í fólk, enda hefði má búast við hærri tíðni CJD hérlendis og hugsanlega afbrigðilegum tilfellum ef svo væri því Íslendingar hafa verið útsettir fyrir riðu í 130 ár

Multiple sclerosis - symptoms, diagnosis and treatment

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenMultiple sclerosis is an inflammatory disease of the central nervous system and a common cause of disability among young people. MS is thought to be an autoimmune disease involving both inheritance and environmental factors. The disease is characterized by relapses and the symptoms and course are highly variable. The diagnosis is primarily clinical and supported by results of diagnostic studies. The importance of timely diagnosis has increased with the availability of effective treatment. The purpose of this article is to review symptoms, signs, diagnosis and treatment of multiple sclerosis.Multiple sclerosis (MS) er bólgusjúkdómur í miðtaugakerfinu og algeng orsök fötlunar hjá ungu fólki. MS er talinn vera sjálfsofnæmissjúkdómur sem tengist samspili erfða og umhverfis. Sjúkdómurinn kemur í köstum og geta einkenni og gangur hans verið margbreytilegur. Greining byggir á sjúkdómseinkennum og styðst við niðurstöður rannsókna. Mikilvægi skjótrar greiningar hefur aukist með tilkomu áhrifaríkrar meðferðar. Tilgangur þessarar greinar er að rekja algengustu einkenni, greiningu og meðferð við MS sjúkdómi

Wernicke's encephalopathy in chronic alcoholics

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)Wernicke's encephalopathy (WE) is caused by thiamine (vitamin B1) deficiency and most commonly found in individuals with chronic alcoholism and malnutrition. Clinically, its key features are mental status disorders and oculomotor abnormalities as well as stance and gait ataxia. The diagnosis of WE is frequently missed although delay of appropriate treatment can lead to death or Korsakoff´s amnestic syndrome. It is therefore crucial in suspected cases of WE, not to await confirmation of diagnosis, but immediately administer high-dose intravenous thiamine and simultaneously treat magnesium deficiency. Alcoholics at risk of WE should on admission receive immediate prophylactic therapy with parenteral thiamine.Wernicke-sjúkdómur hlýst af skorti á þíamíni (B1 vítamíni) og er algengastur hjá einstaklingum með langvinna áfengissýki og vannæringu. Algengustu einkenni eru breytingar á hugarástandi, truflun á augnhreyfingum og stöðu- og göngulagstruflun. Sjúkdómurinn virðist mjög vangreindur en töf á réttri meðferð getur leitt til dauða eða Korsakoff-minnistruflunar. Einstaklingum með líklegan Wernicke skal tafarlaust gefið þíamín í stórum skömmtum. Ekki skal bíða staðfestingar á greiningu áður en meðferð er hafin. Magnesíumskort ætti að leiðrétta samhliða. Áfengissjúkum einstaklingum sem eru í hættu á að fá sjúkdóminn skal ávallt gefa fyrirbyggjandi meðferð þíamíns í vöðva eða æð við innlögn á sjúkrahús

Mortality of multiple sclerosis in Iceland population-based mortality of MS in incidence and prevalence cohorts

Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was funded by a grant from The Gothenburg Society of Medicine. Publisher Copyright: © The Author(s), 2023.Introduction: Mortality is an important feature of the natural history of multiple sclerosis (MS). We report the mortality of all individuals with MS in Iceland, identified in a nationwide population-based study. Patients and Methods: The results are based on a prevalence cohort and an incidence cohort. The prevalence cohort consisted of all patients with MS (n = 526) living in Iceland on the 31 December 2007. The incidence cohort consisted of all residents of Iceland (n = 222) diagnosed with MS during 2002 to 2007. Mortality was determined by following both the incidence cohort (from diagnosis) and the prevalence cohort (from the prevalence day) until death or 31 December 2020. The mortality, associated with MS, was compared with that expected in the Icelandic population (standardized mortality ratio (SMR)). Results: (a) Prevalence cohort (n = 526). The mean follow up was 12.0 years (range 0.3–13.0). The SMR was 1.6 (95% confidence interval (CI) 1.3–2.0). (b) Incidence cohort (n = 222). The mean follow up was 15.4 years (range 3.7–18.5). The SMR was 1.2 (95% CI 0.6–2.2). Conclusion: During the follow-up period, there was a substantial increase in mortality among the patients with MS, compared with the general population. There was no increase in mortality among the incidence cohort, when followed for up to 18.5 years following diagnosis.Peer reviewe

Decreased incidence of Guillain-Barré syndrome during the COVID-19 pandemic : a retrospective population-based study

The Author(s). Published by S. Karger AG, Basel.Background: Guillain-Barré syndrome is an immune-mediated acute inflammatory polyneuropathy that is associated with various triggers, including certain infections and vaccines. It has been suggested that both SARS-CoV-2 infection and vaccination may be triggering factors for Guillain-Barré syndrome, but evidence remains equivocal. Here, we conducted a population-based incidence study of Guillain-Barré syndrome spanning the 3 years immediately prior to and the 2 years during the pandemic. Methods: Cases were identified by searching a regional diagnostic database for the ICD-10 code for Guillain-Barré syndrome. Individuals who fulfilled the Brighton criteria for Guillain-Barré syndrome were included. Information on clinical presentation, laboratory values, and vaccination status were retrieved from medical records. We calculated the incidence immediately prior to and during the pandemic. Results: The Guillain-Barré syndrome incidence rate was 1.35/100,000 person-years for the pre-pandemic period and 0.66/100,000 person-years for the pandemic period (incidence rate ratio: 0.49; p = 0.003). Three cases were temporally associated with SARS-CoV-2 infection and 1 case each to the AstraZeneca and Pfizer-BioNTech COVID-19 vaccines. Conclusions: Our results show that the incidence of Guillain-Barré syndrome decreased during the pandemic. This is most likely due to decreased prevalence of triggering infections due to social restrictions. Our findings do not support a causal relationship between Guillain-Barré syndrome and COVID-19.Peer reviewe

Iceland screens, treats, or prevents multiple myeloma (iStopMM): a population-based screening study for monoclonal gammopathy of undetermined significance and randomized controlled trial of follow-up strategies.

To 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 DownloadMonoclonal gammopathy of undetermined significance (MGUS) precedes multiple myeloma (MM). Population-based screening for MGUS could identify candidates for early treatment in MM. Here we describe the Iceland Screens, Treats, or Prevents Multiple Myeloma study (iStopMM), the first population-based screening study for MGUS including a randomized trial of follow-up strategies. Icelandic residents born before 1976 were offered participation. Blood samples are collected alongside blood sampling in the Icelandic healthcare system. Participants with MGUS are randomized to three study arms. Arm 1 is not contacted, arm 2 follows current guidelines, and arm 3 follows a more intensive strategy. Participants who progress are offered early treatment. Samples are collected longitudinally from arms 2 and 3 for the study biobank. All participants repeatedly answer questionnaires on various exposures and outcomes including quality of life and psychiatric health. National registries on health are cross-linked to all participants. Of the 148,704 individuals in the target population, 80 759 (54.3%) provided informed consent for participation. With a very high participation rate, the data from the iStopMM study will answer important questions on MGUS, including potentials harms and benefits of screening. The study can lead to a paradigm shift in MM therapy towards screening and early therapy.Black Swan Research Initiative by the International Myeloma Foundation Icelandic Centre for Research European Research Council (ERC) University of Iceland Landspitali University Hospita

HLA alleles, disease severity, and age associate with T-cell responses following infection with SARS-CoV-2

Funding Information: We thank all of the participants that contributed samples for this study for their invaluable contribution to the research. We also thank our research staff at the Patient Recruitment Center for their thorough work. Publisher Copyright: © 2022, The Author(s).Memory T-cell responses following SARS-CoV-2 infection have been extensively investigated but many studies have been small with a limited range of disease severity. Here we analyze SARS-CoV-2 reactive T-cell responses in 768 convalescent SARS-CoV-2-infected (cases) and 500 uninfected (controls) Icelanders. The T-cell responses are stable three to eight months after SARS-CoV-2 infection, irrespective of disease severity and even those with the mildest symptoms induce broad and persistent T-cell responses. Robust CD4+ T-cell responses are detected against all measured proteins (M, N, S and S1) while the N protein induces strongest CD8+ T-cell responses. CD4+ T-cell responses correlate with disease severity, humoral responses and age, whereas CD8+ T-cell responses correlate with age and functional antibodies. Further, CD8+ T-cell responses associate with several class I HLA alleles. Our results, provide new insight into HLA restriction of CD8+ T-cell immunity and other factors contributing to heterogeneity of T-cell responses following SARS-CoV-2 infection.Peer reviewe

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment

Neurosciences, new knowledge challenges old ideas [editorial]

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenÁ síðustu Þremur áratugum hafa rannsóknir á heila og taugakerfi tekið mikinn fjörkipp og síðustu 10 árin hafa vísindamenn á sviði taugavísinda (neurosciences) þrívegis fengið Nóbelsverðlaun í læknisfræði. Miklar framfarir hafa orðið á grundvallarþekkingu á starfsemi heilans og taugakerfisins og einnig í greiningu og meðferð heilasjúkdóma