Gæði þjónustu á sjúkraþjálfunarstöðvum : viðhorfskönnun meðal notenda þjónustunnar : lokaverkefni til BS-prófs 2004

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenQuality of services at private physiotherapy clinics: a survey of the clients´ view Few studies are available that reflect the experience of patients receiving treatment by physiotherapists in private practice, and no such survey has been done in Iceland. The aim of this study was to evaluate the quality of services at private physiotherapy clinics as seen from the clients´ point of view. A special questionnaire was designed for this purpose and handed out by reception personnel to individuals, 18 years or older, who were receiving treatment at the time. Nine large clinics were randomly chosen and 471 questionnaires were divided between them according to the number of staff at each clinic. Altogether 315 questionnaires were returned (66.9% response). Of those who responded, 70.2% were females; mean age was 56.4 years. Results showed that although a few factors concerning treatment did not completely match the patients´ expectations, 95% of participants expressed that they were satisfied with their physiotherapist and the services provided at the clinic. According to their view, communication and personal attitude of the staff were of particular value when evaluating the quality of services. Suggestions for improvement, if any, were mainly related to the access, parking or facilities at the clinic. Although these results reflect a very positive view of the services provided at physiotherapy clinics, it is important for physiotherapist to maintain their awareness of quality and continue investigations in this area

A Severe Throat Infection - Case Report

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenWe report a case of Lemierre?s syndrome or, human necrobacillosis, in a 33 year old icelandic male. A severe clinical picture, fulfilling all the criteria for this syndrome, is described. With antibiotic therapy, and critical care, the outcome was successful. A brief overview of infections due to Fusobacterium necro phorum, with special emphasis on Lemierre?s syndrome, is presented. Etiology, clinical symptoms, treatment and prognosis of this syndrome are dis cussed. We believe this to be the first case of human necrobacillosis to be reported in Iceland.Sjúkrasaga Þrjátíu og þriggja ára gamall bóndi, áður hraust­ur, kom á bráðamóttöku Fjórðungssjúkrahússins á Akureyri (FSA). Hann hafði veikst sex dögum áður með háum hita, miklum slappleika og verkjum aftan í hálsi. Hann var alveg rúmfastur, kastaði mikið upp en var ekki með niðurgang. Allan tímann var hann með óstöðv­andi hiksta. Kona hans tók eftir að hann var móður og svaf illa. Hann mældist með hita um 40° C og fór að lokum til heilsugæslulæknis sem sá að hann var gulur og fárveikur og sendi hann á bráðamóttöku FSA. Við komu á FSA var hann fárveikur (septískur), lá á bekk, vakandi og áttaður, mjög þvoglumæltur, og skalf mikið. Blóðþrýstingur var 140/85 mmHg liggj­andi og 128/64 mmHg sitjandi. Púls 119/mín, reglu­legur. Öndunartíðni 36/mín. Hiti 39,8°C í enda­þarmi. Hann var gulur á húð og í augnhvítu. Mikil þreifi­eymsli voru í hnakka og aftan á hálsi en ekki hnakkastífleiki. Hann var mjög þurr á vörum, með blóð­skorpur í munni og brúnleita, að því er virt­ist, fláka af yfirborðsdrepi á tungu. Hann var mjög bólginn í koki. Fíngert brak heyrðist yfir hægra lunga. Við hjartahlustun heyrðust eðlilegir hjartatónar og slagbilsóhljóð (systólískt). Kviður var aumur undir hægri rifjaboga en engar líffærastækkanir né aðrar fyrirferðaraukningar fundust. Hann var með kylfufingur (talið vera meðfætt) og flísablæðingar sáust undir nöglum. Nöglin á hægri stórutá var inngróin og talsvert sár og bólguholdgun (granulation) umhverfis en ekki merki um bráða sýkingu. Maðurinn var að nálgast sýkingalost án augljósrar orsakar

Outcome of mitral valve replacement in Iceland

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open Allur texti - Full textIntroduction: Mitral valve replacement (MVR) is the second most common valvular replacement procedure after aortic valve replacement (AVR). Studies on the outcome of MVR in Iceland have been missing. We therefore studied short and long-term results following MVR in Iceland, Material and methods: A retrospective nationwide study on 64 patients (mean age 59 years, 63% males) that underwent 66 MVR procedures in Iceland between 1990-2010. Clinical data was retrieved from patient charts and overall survival estimated. The mean follow-up was 7.4 years. Results: Mitral regurgitation or stenosis was the indication for MVR in 71% and 27% of cases, respectively. Nine patients had endocarditis and 8 a recent myocardial infarction. The mean logEuroSCORE was 14.9% (range 1.5-88.4), 83% of the patients were in NYHA class III/IV preoperatively and 24% had previously undergone cardiac surgery. A biological valve was implanted in six cases and a mechanical valve used in 60 cases. Concomitant CABG was performed in 41% of patients and AVR in 20%. Perioperative myocardial infarction (26%), acute respiratory failure (17%), reoperation for bleeding (15%) and acute renal failure requiring dialysis (9%) were the most common major complications. Three patients required extracorporeal membrane oxygenation (ECMO) and six patients an intra-aortic balloon pump (IABP) postoperatively. Minor complications were noted in 61% of cases. Six patients died within 30 days (9%) and five year survival was 69%. Conclusion: The frequency of complication following MVR was high and represents the severity of the underlying heart disease. The operative mortality in the current study was in the lower range compared to other studies.Inngangur: Míturlokuskipti eru næstalgengasta lokuskiptaaðgerð hér á landi á eftir ósæðarlokuskiptum. Tilgangur rannsóknarinnar var að kanna skammtíma- og langtímaárangur míturlokuskipta á Íslandi en það hefur ekki verið gert áður. Efniviður og aðferðir: Afturskyggn rannsókn á þeim 64 sjúklingum (meðalaldur 59 ár, 63% karlar) sem gengust undir 66 míturlokuskipti á Landspítala frá 1990 til 2010. Klínískar upplýsingar fengust úr sjúkraskrám og var heildarlifun reiknuð út. Meðaleftirfylgd var 7,4 ár. Niðurstöður: Algengasta ábending aðgerðar var lokuleki hjá 47 sjúklingum (71%) en 18 (27%) höfðu lokuþrengsli. Fjórðungur hafði áður gengist undir opna hjartaaðgerð, 9 höfðu virka hjartaþelsbólgu og 8 nýlegt hjartadrep. Meðal logEuroSCORE var 14,9% (bil 1,5-88,4) og 83% sjúklinganna voru í NYHA-flokki III/IV fyrir aðgerð. Sex sjúklingar fengu lífræna loku en hinir gerviloku. Önnur hjartaaðgerð var gerð samtímis hjá tveimur þriðju sjúklinga, oftast kransæðahjáveita (41%) og/eða ósæðarlokuskipti (20%). Hjartadrep í tengslum við aðgerð (26%), öndunarbilun (17%), enduraðgerð vegna blæðingar (15%) og nýrnabilun sem krafðist skilunar (9%) voru algengustu alvarlegu fylgikvillarnir. Að auki þurfti ECMO-dælu í þremur tilfellum vegna hjartabilunar og ósæðardælu hjá 6 sjúklingum. Minniháttar fylgikvillar greindust í 61% tilfella, oftast fleiðruvökvi sem þarfnaðist aftöppunar, nýtilkomið gáttatif og lungnabólga. Sex sjúklingar létust innan 30 daga frá aðgerð (9%) og 5 ára lífshorfur voru 69%. Ályktun: Tíðni fylgikvilla var há eftir míturlokuskipti, enda flestir sjúklinganna með alvarlegan undirliggjandi hjartasjúkdóm. Skurðdauði var lægri hér á landi en í mörgum sambærilegum erlendum rannsóknum

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

Intensive care patients with influenza A (H1N1) infection in Iceland 2009

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)BACKGROUND: We describe the main characteristics of patients that required intensive care due to the influenza (H1N1) outbrake in 2009. METHODS: Retrospective and prospective analysis of medical records from patients admitted to ICU with positive RT-PCR for (H1N1). RESULTS: During a six week period in the fall of 2009, 16 patients were admitted to intensive care in Iceland with confirmed H1N1 infection. Mean age was 48 years (range 1-81). Most patients were considered quite healthy but the majority had risk factors such as smoking, obesity or hypertension. All but one had fever, cough, dyspnea and bilateral infiltrates on chest x-ray and developed any organ failures (mean SOFA score 7). 12 needed mechanical ventilation and two extra corporeal membrane oxygenation (ECMO). Mean APACHE II score was 20. No patient died in the ICU but one elderly patient with multiple underlying diseases died a few days after being discharged from the ICU. CONCLUSIONS: (1) The incidence of severe influenza A (H1N1) that leads to ICU admission appears to be high in Iceland. (2) Many patients developed acute respiratory distress syndrome in addition to other organ failures, and required additional measures for oxygenation such as prone position, nitric oxide inhalation and ECMO. (3) 28 day mortality was low. (4) This study will aid in future outbreak planning in Iceland. Key words: influenza A, pneumonia, multiple organ failure, death rate, intensive care, ventilator therapy, ECMO.Tilgangur: Að lýsa helstu einkennum og afdrifum þeirra sem lögðust inn á gjörgæsludeildir á Íslandi vegna inflúensusýkingar af A stofni (H1N1) haustið 2009. Aðferðir: Aflað var upplýsinga um sjúklinga sem lögðust inn á gjörgæsludeildir á Íslandi með staðfesta H1N1 2009 sýkingu. Niðurstöður: 16 sjúklingar lögðust inn á gjörgæsludeildir vegna inflúensu A (H1N1) sýkingar, meðalaldur 48 ár (1-81). Flestir töldust vera tiltölulega frískir fyrir, en 13 höfðu þó sögu um reykingar, offitu eða háþrýsting. 15 höfðu hita, hósta, öndunarþyngsli og dreifðar íferðir í báðum lungum á lungnamynd og margir fengu fjöllíffærabilun. Allir fengu veirulyf og 12 voru meðhöndlaðir í öndunarvél, þar af tveir einnig í hjarta- og lungnavél. Enginn sjúklingur lést á gjörgæsludeild, en einn fjölveikur aldraður sjúklingur lést síðar á legudeild. Ályktanir: (1) Tíðni alvarlegra sjúkdómseinkenna af völdum inflúensu A (H1N1) sem leiða til gjörgæslumeðferðar er há á Íslandi. (2) Þessir sjúklingar fá flestir, auk annarra líffæratruflana, mjög alvarlega öndunarbilun sem oft lætur ekki undan hefðbundinni öndunarvélameðferð. (3) Árangur meðferðar á íslenskum gjörgæsludeildum hefur verið góður. (4) Niðurstöður þessarar rannsóknar geta nýst yfirvöldum við mat á meðferðarmöguleikum og fyrirbyggjandi aðgerðum gegn þessum lífshættulega sjúkdómi

The effect of dietary fish oil on bacterial growth in vivo

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Epidemiological studies have indicated that high intake of w-3 fatty acids influence various diseases such as cardiovascular diseases and autoimmune disorders. These fatty acids are essential in the diet since the body can not form them de novo. Fish oil is rich in w-3 fatty acids but the w-3 content of vegetable oil is low. The research group has shown increased survival of mice fed cod liver oil enriched diet versus mice fed corn oil enriched diet when infected with Klebsiella pneumoniae intramuscularly. In the present study we investigated the effect of dietary fish oil on bacterial growth in vivo. Material and methods: Mice were fed fish oil enriched diet and a control group was fed corn oil enriched diet for six weeks and then the mice were infected with Klebsiella pneumoniae intramuscularly. The mice were sacrificed at various time intervals and bacteria were counted in blood and in the infected muscle. Results: The bacteria count in blood and tissue was not significantly different between the two groups although a trend was noted towards more growth in the control group. Conclusions: We conclude that fish oil does not significantly affect bacterial growth in vivo. Hopefully, future research will reveal the pathophysiological effect of fish oil.Tilgangur: Faraldsfræðilegar rannsóknir benda til að mikil neysla w-3 fitusýra hafi áhrif á ýmsa sjúkdóma svo sem hjarta- og æðasjúkdóma og sjálfnæmissjúkdóma. Líkaminn getur ekki nýmyndað w-3 fitusýrur, og því er nauðsynlegt að fá þær úr fæðunni. Lýsi er mjög ríkt af slíkum fitusýrum, en jurtaolíur aftur á móti ekki. Rannsóknarhópurinn hefur sýnt fram á aukna lifun músa sem fengið höfðu lýsisbætt fæði samanborið við mýs sem fengu kornolíubætt fæði og voru sýktar með Klebsiella pneumoniae í vöðva. Í þessari rannsókn var kannað, hvort þau áhrif væru vegna áhrifa lýsis á bakteríuvöxt in vivo. Efniviður og aðferðir: Mýs voru aldar á lýsisbættu fæði eða kornolíubættu fæði til viðmiðunar í sex vikur og þá sýktar með Klebsiella pneumoniae í vöðva. Mýsnar voru aflífaðar á mismunandi tímapunktum og var fjöldi baktería í blóði og frá sýkingarstað talinn. Niðurstöður: Ekki var marktækur munur á bakteríufjöldanum í hópunum á mismunandi tímapunktum, hvorki í blóði né á sýkingarstað, þó var tilhneiging til meiri vaxtar í kornolíuhópnum. Ályktanir: Lýsi virðist ekki hafa marktæk áhrif á bakteríuvöxt in vivo. Frekari rannsóknir munu vonandi leiða nánar í ljós hver áhrif lýsisins eru

Cardiac arrest in a teenager - a case report

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenCardiac arrest is rarely seen in children and teenagers. We present a 12-year old girl with cardiac arrest following myocardial infarction, that required prolonged cardiac massage and extracorporeal-membranous-oxygenation (ECMO). At coronary angiography the left main coronary artery (LMCA) was stented for a suspected coronary dissection. The contraction of the heart improved and the ECMO-treatment was discontinued a week later. The patient was discharged home, but six months later a coronary artery bypass surgery was performed for in-stent restenosis. Further work-up with computed tomography (CT) showed that the LMCA originated from the right aortic sinus instead of the the left one. This case demonstrates how life threatening myocardial infarction can be caused by coronary artery anomalies.Hjartastopp er sjaldgæft hjá börnum og unglingum. Lýst er 12 ára stúlku sem fór í hjartastopp eftir brátt hjartadrep þar sem beita varð langvarandi hjartahnoði og hjarta- og lungnavél til að bjarga lífi hennar. Við kransæðaþræðingu vaknaði grunur um flysjun í vinstri kransæðarstofni og var því komið fyrir kransæðastoðneti. Samdráttur hjartans lagaðist og var hjarta- og lungnavélin aftengd viku síðar. Hún útskrifaðist heim en hálfu ári síðar sást endurþrenging í stoðnetinu og var því gerð kransæðahjáveituaðgerð. Á tölvusneiðmyndum sást að um meðfæddan galla var að ræða þar sem vinstri kransæðarstofn átti upptök frá hægri ósæðarbolla í stað þess vinstra. Tilfellið sýnir að kransæðamissmíð getur valdið lífshættulegu hjartadrepi

Beneficial effect of dietary fish-oil is independent of the infection site

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjective: Fish-oil enriched diet has a protective effect on experimental animals infected intramuscularly with Klebsiella pneumoniae. It also has beneficial effect in several other diseases, including autoimmune disorders. The pathophysiological effects of dietary fish-oil have still not been revealed although it is expected to influence the immune response. We have previously shown that dietary fish-oil has beneficial effect in mice infected intramuscularly with Klebsiella pneumoniae. If the beneficial effect of dietary fish-oil is due to influence on the immune response it should be independent of the infection site. We therefore investigated whether dietary fish-oil has beneficial effect in intrapulmonary infection with Klebsiella pneumoniae as it has on intramuscular infection with the same bacteria. Materials and methods: Sixty NMRI mice were fed diets enriched with fish-oil (30 mice) or corn-oil (30 mice) for six weeks. The mice were then infected in the lungs with Klebsiella pneumoniae and the survival was monitored. The experiment was performed twice. The results were compared to our earlier results with intramuscular infections. Results: The survival of the mice fed the fish-oil enriched diet and infected in the lungs with Klebsiella pneumoniae was significantly better compared to the survival of mice fed the corn-oil enriched diet in both experiments (p=0.0001 and p=0.0013). These results are similar to our earlier findings when the mice were infected intramuscularly. Conclusions: These results indicate that the beneficial effect of dietary fish-oil on infection is independent of the site of infection. These results are in accordance with the hypothesis that dietary fish-oil influences the immune response.Markmið: Lýsisríkt fæði hefur verndandi áhrif á tilraunadýr sem sýkt eru í vöðva með Klebsiella pneumoniae og hefur einnig áhrif í ýmsum sjúkdómum, þar á meðal sjálfnæmissjúkdómum. Ekki er ljóst á hvern hátt lýsið virkar þó líklegt sé að virknin tengist áhrifum lýsis á ónæmissvar dýranna við sýkingunum og öðru áreiti. Rannsóknarhópurinn hefur áður birt niðurstöður sem sýna verndandi áhrif lýsisneyslu í sýkingum með Klebsiella pneumoniae þegar bakteríunni er sprautað í vöðva. Ef verndandi áhrif lýsis í sýkingum tengjast almennt ónæmissvari líkamans ættu þau að koma fram óháð íkomustað sýkingarinnar. Í tilraunum okkar nú var því kannað hvort lýsið hefði sömu verndandi áhrif á tilraunadýr sem sýkt voru í lungu í stað vöðva eins og það gerði í fyrri tilraunum. Efniviður og aðferðir: Sextíu NMRI mýs voru aldar í sex vikur á fæði bættu með lýsi (30 mýs) eða fæði bættu með kornolíu (30 mýs). Eftir það voru mýsnar sýktar í lungu með Klebsiella pneumoniae og fylgst með lifun. Tilraunin var síðan endurtekin á nákvæmlega sama hátt. Niðurstöðurnar voru bornar saman við fyrri tilraunir hópsins þar sem sýkt var í læri. Niðurstöður: Lifun músa sem fengið höfðu lýsisbætt fæði var marktækt betri í báðum tilraununum samanborið við mýs sem aldar voru á kornolíubættu fæði (p=0,0001 og p=0,0013). Niðurstöðurnar eru sambærilegar fyrri niðurstöðum þegar sýkt var í vöðva. Ályktanir: Niðurstöðurnar benda til að jákvæð áhrif lýsisneyslu komi fram óháð íkomustað bakteríanna. Niðurstöðurnar eru því í samræmi við þá kenningu að lýsisneyslan hafi áhrif á ónæmissvar líkamans fremur en afmarkaða staðbundna þætti

Differential associations between retinal signs and CMBs by location

Objective To test the hypothesis that age-related macular degeneration (AMD) and retinal microvascular signs are differentially associated with lobar and deep cerebral microbleeds (CMBs). Methods CMBs in lobar regions indicate cerebral amyloid angiopathy (CAA). β-Amyloid deposits are implicated in both CAA and AMD. Deep CMBs are associated with hypertension, a major risk factor for retinal microvascular damage. This population-based cohort study included 2,502 participants in the Age, Gene/Environment Susceptibility (AGES)-Reykjavik Study who undertook binocular digital retinal photographs at baseline (2002–2006) to assess retinal microvascular signs and AMD and brain MRI scan at both baseline and follow-up (2007–2011) to assess CMBs. We assessed retinal microvascular lesion burden by counting the 3 retinal microvascular signs (focal arteriolar narrowing, arteriovenous nicking, and retinopathy) concurrently present in the participant. We used multiple logistic models to examine the association of baseline retinal pathology to incident CMBs detected at follow-up. Results During an average 5.2 years of follow-up, 461 people (18.3%) developed new CMBs, including 293 in exclusively lobar regions and 168 in deep regions. Pure geographic atrophy was significantly associated with strictly lobar CMBs (multivariable-adjusted odds ratio 2.59, 95% confidence interval [CI] 1.01–6.65) but not with deep CMBs. Concurrently having ≥2 retinal microvascular signs was associated with a 3-fold (95% CI 1.73–5.20) increased likelihood for deep CMBs but not exclusively lobar CMBs. Conclusions Retinal microvascular signs and pure geographic atrophy may be associated with deep and exclusively lobar CMBs, respectively, in older people. These results have implications for further research to define the role of small vessel disease in cognitive impairment.The AGES-Reykjavik Study was funded by the NIH (contract N01-AG-12100); the Intramural Research Program of the National Institute on Aging and the National Eye Institute (ZIAEY000401), NIH; and the Icelandic Heart Association and the Icelandic Parliament. None of the funding organizations or sponsors were involved in study design; in the collection, analysis, or interpretation of data; in writing of the report; or in the decision to submit the manuscript for publication.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