[Rickets in a child]

Vitamin D is necessary for normal bone growth. Deficiency of vitamin D can lead to rickets in children and osteomalacia in adults. It is difficult to reach the recommended daily dose of vitamin D in children without cod liver oil or other vitamin D supplementation. Several cases of rickets have been diagnosed in Iceland the past few years. Studies suggest a worldwide increase in the prevalence of the disorder. We report on a girl who was diagnosed with rickets at the age of 27 months. She received inadequate amounts of vitamin D supplementation in the form of AD drops and cod liver oil. Because of food allergy she was on a restricted diet which limited her intake of dietary vitamin D. After diagnosis, she received a high-dose vitamin D therapy (Stoss therapy) which corrected the deficiency. Key words: rickets, food allergy, vitamin D.D-vítamín er mikilvægt fyrir eðlilegan beinvöxt og getur skortur leitt til beinkramar í börnum og beinmeyru í fullorðnum. Mikilvægasti D-vítamíngjafi á Íslandi er lýsi en erfitt er að ná ráðlögðum dagsskammti D-vítamíns án lýsis eða annars D-vítamíngjafa. Allmörg tilfelli beinkramar hafa greinst hér á landi á undanförnum árum en erlendar rannsóknir sýna að sjúkdómurinn er vaxandi vandamál um allan heim. Hér er sagt frá stúlku sem greindist með beinkröm 27 mánaða gömul. Hún var á brjósti í tæpt ár og fékk D-vítamínviðbót með AD-dropum og þorskalýsi en ekki í nægilegu magni. Fæðuofnæmi gerði það að verkum að hún nærðist á einhæfu fæði sem innihélt takmarkað D-vítamín. Eftir greiningu var hafin háskammta D-vítamínmeðferð (Stoss meðferð) sem leiðrétti skortinn

Prehospital cardiac life support in the Reykjavík area 1999-2002

Hægt er að lesa af greinina í heild sinni með því að smella á hlekkinn í Additional LinksOBJECTIVES: A physician manned ambulance has provided advanced resuscitation service in the Reykjavík area for over 20 years. Out of hospital resuscitation since 1982 has been done with average response time of 4.6-4.9 minutes, the survival rate to hospital admission has been 31-40% and survival to hospital discharge 16-17%. In the years preceding this study, several changes were done in the service; the service area was enlarged, dispatch was centralized to one emergency number, the training of EMT s and physicians was improved and a two-tier rendezvous system was adopted. Cell phone coverage reached over 90% of the population. The study was done in 1999-2002 with the objective to: 1. measure the results of attempted prehospital resuscitations for cardiac diseases in the area, 2. to monitor the effect of bystander response, 3. to estimate the effect of changes in the service prior to the study period. MATERIALS AND METHODS: A ambulance staffed with EMTs and one with a physician were dispatched to all possible cases of cardiac arrest. Resuscitation was attempted using the AHA guidelines for resuscitation. Prospective data was collected following the Utstein template recorded by the physician on call. RESULTS: A total of 319 resuscitative attempts were made during the years 1999-2002, excluding hanging, SIDS, drowning, suicide, trauma, internal bleeding and other diseases, a total of 232 arrests were considered of cardiac origin giving an incidence of 33/100,000/year. The average response time was 6,1 min. Of 232 cardiac resuscitation attempts 140 patients (60%) were in VF/VT, 53 (23%) in asystole and 39 (17%) in other rhythms. Ninety-six (41%) of all patients survived being admitted to hospital ward and 44 (19%) survived to discharge with 39 being alive at 12 months. Of patients in VF/VT, 79 (56%) survived to hospital admission and 39 (28%) to hospital discharge. Resuscitation was more successful in cases of witnessed arrest and if CPR was attempted by bystanders. CONCLUSION: Despite various changes in the EMS system, the results of resuscitative attempts are similar to previous studies in the area but an increased proportion of survivors is left with neurological damage. In 54% of the cases COR was performed by bystanders. Response time needs to be shortened and CPR training increased.Inngangur: Neyðarbíll hefur sinnt endurlífgunarþjónustu á höfuðborgarsvæðinu síðan 1982. Hefur útkallstími við endurlífganir verið 4,6-4,9 mínútur, lifun að innlögn á sjúkrahús 31-40% og lifun að útskrift frá sjúkrahúsi 16-17%. Í upphafi árs 1996 var fyrirkomulagi breytt þegar þjónustusvæði var stækkað og sama ár var einnig tekið upp stefnumótakerfi, auk þess sem neyðarlínan tók til starfa. Farsímanotkun þjóðarinnar náði yfir 90% í lok rannsóknartímabilsins sem hefur auðveldað tilkynningar um hjartastopp og á tímabilinu var þjálfun neyðarbílslækna og sjúkraflutningamanna aukin. Rannsóknin var gerð á árunum 1999-2002. Tilgangur hennar var að meta: 1) árangur endurlífgunartilrauna utan sjúkrahúsa vegna hjartasjúkdóma á höfuðborgarsvæðinu, 2) áhrif viðbragða og endurlífgunartilrauna nærstaddra á afdrif sjúklinga, 3) hugsanleg áhrif skipulagsbreytinga á þjónustunni. Efniviður og aðferðir: Í öllum tilvikum skyndilegs meðvitundarleysis fer sjúkrabíll og neyðarbílslæknir á vettvang. Endurlífgunartilraunir voru framkvæmdar samkvæmt stöðlum AHA (american heart association) og skýrslur um allar endurlífgunartilraunir fylltar út jafnharðan af neyðarbílslæknum samkvæmt Utsteinstaðli. Niðurstöður: Alls var reynt að endurlífga í 319 tilvikum. Í 87 tilvikum var um að ræða hengingu, drukknun, lyfjaeitrun, innri blæðingu, vöggudauða, áverka eða aðrar ástæður, en í 232 tilvikum var hjartastopp vegna hjartasjúkdóma og miðast uppgjörið við þann hóp. Tíðni hjartaendurlífgunartilrauna var 33 á hverja 100.000 íbúa á ári. Meðalaldur var 68 ár og 77% voru karlar. Meðalútkallstími var 6,1 mínútur. Af 232 hjartasjúkdómaendurlífgunum voru 140 einstaklingar (60%) í sleglatifi eða sleglahraðtakti án blóðflæðis (VF/VT), 53 (23%) í rafleysu og 39 (17%) í öðrum takti. Af öllum sjúklingum þar sem endurlífgun var reynd komust 96 (41%) lifandi inn á legudeild og 44 útskrifuðust (19%). Eftir 12 mánuði voru 39 á lífi. Sé litið sérstaklega á þá sem voru í VF/VT komust 79 (56%) lifandi inn á deild og 39 (28%) útskrifuðust. Þegar vitni var að upphafi hjartastopps var skyndihjálp beitt í 54% tilvika. Ályktanir: Þrátt fyrir lengingu á útkallstíma hefur árangur endurlífgunartilrauna ekki breyst en fjöldi þeirra sem lifa af með heilaskaða hefur aukist. Aðgerðir til þess að stytta útkallstíma og auka fjölda þeirra sem framkvæma hjartahnoð eru nauðsynlegar

The value of magnetic resonance cholangiopancreatography for the exclusion of choledocholithiasis.

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 Files. This article is open access.To investigate the ability of Magnetic resonance cholangiopancreatography (MRCP) to exclude choledocholithiasis (CDL) in symptomatic patients.Patients suspected of choledocholithiasis who underwent MRCP from 2008 through 2013 in a population based study at the National University Hospital of Iceland were retrospectively analysed, using ERCP and/or intraoperative cholangiography as a gold standard diagnosis for CDL.Overall 920 patients [66% women, mean age 55 years (SD 21)] underwent MRCP. A total of 392 patients had a normal MRCP of which 71 underwent an ERCP investigation demonstrating a CBD stone in 29 patients. A normal MRCP was found to have a 93% negative predictive value (NPV) and 89% probability of having no CBD stone demonstrated as well as no readmission due to gallstone disease within six months following MRCP. During a 6-month follow-up period of the 321 patients who did not undergo an ERCP nine (2.8%) patients were readmitted with right upper quadrant pain and elevated liver tests which later normalised with no CBD stone being demonstrated, three (0.9%) patients were readmitted with presumed gallstone pancreatitis, two (0.6%) patients were readmitted with cholecystitis and two (0.6%) patients were lost to follow-up. Seven patients of those 321 underwent an intraoperative cholangiography (IOC) and all were negative for CBD stones. For the sub-group requiring ERCP following a normal MRCP the NPV was 63%.Our results support the use of MRCP as a tool for exclusion of choledocholithiasis with the potential to reduce the amount of unnecessary ERCP procedures

The half-painted picture: Reviewing the mental health impacts of cancer screening

Peer reviewe

Treatment as Prevention for Hepatitis C (TraP Hep C) - a nationwide elimination programme in Iceland using direct-acting antiviral agents

Publisher's version (útgefin grein)A nationwide programme for the treatment of all patients infected with hepatitis C virus (HCV) was launched in Iceland in January 2016. By providing universal access to direct‐acting antiviral agents to the entire patient population, the two key aims of the project were to (i) offer a cure to patients and thus reduce the long‐term sequelae of chronic hepatitis C, and (ii) to reduce domestic incidence of HCV in the population by 80% prior to the WHO goal of HCV elimination by the year 2030. An important part of the programme is that vast majority of cases will be treated within 36 months from the launch of the project, during 2016–2018. Emphasis is placed on early case finding and treatment of patients at high risk for transmitting HCV, that is people who inject drugs (PWID), as well as patients with advanced liver disease. In addition to treatment scale‐up, the project also entails intensification of harm reduction efforts, improved access to diagnostic tests, as well as educational campaigns to curtail spread, facilitate early detection and improve linkage to care. With these efforts, Iceland is anticipated to achieve the WHO hepatitis C elimination goals well before 2030. This article describes the background and organization of this project. Clinical trial number: NCT02647879.Sigurdur Olafsson: Speaker's fee from Merck. Magnus Gottfredsson: Speaker's fee from Astellas and Gilead. MH and the Burnet Institute receive investigator‐initiated research funding from Gilead Sciences, AbbVie and BMS.Peer Reviewe

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Publisher's version (útgefin grein) Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase’s main subunit (gp91phox) and results in CGD. Analyzing two brothers diagnosed with CGD we identify a homozygous loss-of-function mutation, p.Tyr2Ter, in CYBC1. Imputation of p.Tyr2Ter into 155K chipgenotyped Icelanders reveals six additional homozygotes, all with signs of CGD, manifesting as colitis, rare infections, or a severely impaired PMA-induced neutrophil oxidative burst. Homozygosity for p.Tyr2Ter consequently associates with inflammatory bowel disease (IBD) in Iceland (P = 8.3 × 10−8; OR = 67.6), as well as reduced height (P = 3.3 × 10−4; −8.5 cm). Overall, we find that CYBC1 deficiency results in CGD characterized by colitis and a distinct profile of infections indicative of macrophage dysfunction.We wish to thank the family of the two probands, as well as all the other individuals who participated in the study and whose contribution made this work possible.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

EuReCa ONE—27 Nations, ONE Europe, ONE Registry A prospective one month analysis of out-of-hospital cardiac arrest outcomes in 27 countries in Europe

AbstractIntroductionThe aim of the EuReCa ONE study was to determine the incidence, process, and outcome for out of hospital cardiac arrest (OHCA) throughout Europe.MethodsThis was an international, prospective, multi-centre one-month study. Patients who suffered an OHCA during October 2014 who were attended and/or treated by an Emergency Medical Service (EMS) were eligible for inclusion in the study. Data were extracted from national, regional or local registries.ResultsData on 10,682 confirmed OHCAs from 248 regions in 27 countries, covering an estimated population of 174 million. In 7146 (66%) cases, CPR was started by a bystander or by the EMS. The incidence of CPR attempts ranged from 19.0 to 104.0 per 100,000 population per year. 1735 had ROSC on arrival at hospital (25.2%), Overall, 662/6414 (10.3%) in all cases with CPR attempted survived for at least 30 days or to hospital discharge.ConclusionThe results of EuReCa ONE highlight that OHCA is still a major public health problem accounting for a substantial number of deaths in Europe.EuReCa ONE very clearly demonstrates marked differences in the processes for data collection and reported outcomes following OHCA all over Europe. Using these data and analyses, different countries, regions, systems, and concepts can benchmark themselves and may learn from each other to further improve survival following one of our major health care events

To bring bad news [editorial]

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenEin af erfiðari skyldum, sem fylgja læknisstarfinu er að færa sjúklingum og aðstandendum þeirra slæmar fréttir. Þá reynir að jafnaði hvað mest á færni manna í læknisfræði jafnt sem læknislist. Samfara hraðri þróun í skilningi manna á eðli sjúkdóma, framförum í greiningu og meðferð og aukinni áherzlu á réttindi sjúklinga hafa orðið miklar breytingar á viðhorfum að því er varðar upplýsingamiðlun til sjúklinga. Umræður um það, hvernig beri að miðla upplýsingum og hvað sjúklingum sé hollt að vita eru aldagamlar

Banaslys af völdum bruna

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenA retrospective study was made on mortality due to burn injuries in Iceland 1971-1992. Data was obtained from the Bureau of Statistics, the Icelandic University Hospital and Department of Forensic Medicine. Analyzed were etiology, sex and age distribution, associated risk factors and mortality rate. In addition there were analyzed wound size and depth, complications and cause of death for patients admitted to the Burn Unit at the University Hospital. Mortality Model was used to calculate probability of death. Following burn injury 46 died, the overall mortality rate was 0.9/100,000 persons per year, the mortality rate had decreased and was 0.5/ 100,000 persons during 1983-92. Admitted to the University Hospital were 27. The cause of death was due to complications of the burn injury, except in two cases where death was due to preexisting disease and they had the lowest probability of death. Probability of death over 0.45 had 80 percent and 60 percent over 0.8. Only one patient died the last 10 years with probability of death lower than 0.8. Mortality due to burns has decreased over the last decade and later causes of death have proportionally increased. Calculated probability of death was very high and it is therefore assumed that the result of treatment was acceptable.Athuguð voru banaslys af völdum bruna á Íslandi á árunum 1971-1992. Upplýsingar voru fengnar frá Hagstofu Íslands, sjúkraskýrslum Landspítalans og Rannsóknastofu Háskólans í meinafræði. Fundin voru dánartíðni, skipting milli kynja, aldursdreifing, slysstaður, orsök og tengdir áhættuþættir, útbreiðsla og dýpt brunans, fylgikvillar og dánarorsök hjá þeim er komu til meðferðar á Landspítalann. Banaslys voru 46, að meðaltali 0,9/100.000 íbúa á ári og hafði fækkað síðari árin, voru að meðaltali 0,5/ 100.000 árin 1983-92. Til meðferðar á Landspítalann komu 27. Dánarorsök var hægt að rekja til fylgikvilla brunans, að undanskildum tveimur tilfellum en þar var dánarorsök rakin til fyrri sjúkdóms og voru útreiknaðar dánarlíkur þeirra lægstar. Reiknaðar voru út dánarlíkur eftir líkani fyrir dánartíðni (Mortality Model). Dánarlíkur yfir 0,45 höfðu 80% og 60% yfir 0,8. Á síðustu 10 árum lést einungis einn með dánarlíkur undir 0,8. Banaslysum af völdum bruna hefur fækkað á síðasta áratugi og breytingar hafa orðið á dánarorsök, en síðkomnum dánarorsökum hefur hlutfallslega fjölgað. Útreiknaðar dánarlíkur voru mjög háar og má því ætla að góður árangur hafi náðst í meðferð brunasjúklinga á Landspítalanum