ICF flokkunarkerfið og áhrif þess á sjúkraþjálfun

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenKröfur um árangur og sannanir fyrir gagnsemi meðferðar innan heilbrigðiskerfisins hafa aukist mjög síðustu ár en mælikvarða á árangur hefur vantað tilfinnanlega. Því er ekki að undra að á nokkrum undanförnum árum hefur áhugi á ICF-flokkunarkerfinu farið vaxandi meðal fagfólks og stjórnenda í endurhæfingu hér á landi sem erlendis

COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA

Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case presentation: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. We assessed all coding and splicing variants, prioritizing variants in genes known to cause interstitial lung disease. We detected a heterozygous missense mutation, p.Glu241Lys, in the COPA gene, private to the affected family members. The mutation occurred de novo in the paternal germline of the index case and was absent from 30,067 Icelandic genomes and 141,353 individuals from the genome Aggregation Database (gnomAD). The mutation occurs within the conserved and functionally important WD40 domain of the COPA protein. Conclusions: This is the second report of the p.Glu241Lys mutation in COPA, indicating the recurrent nature of the mutation. The mutation was reported to co-segregate with COPA syndrome in a large family from the USA with five affected members, and classified as pathogenic. The two separate occurrences of the p.Glu241Lys mutation in cases and its absence from a large number of sequenced genomes confirms its role in the pathogenesis of the COPA syndrome. Keywords: COPA syndrome, Lung disease, Arthritis, Immune dysregulation, Case reportPeer Reviewe

The second physical therapy summit on global health: developing an action plan to promote health in daily practice and reduce the burden of non-communicable diseases

Based on indicators that emerged from The First Physical Therapy Summit on Global Health (2007), the Second Summit (2011) identified themes to inform a global physical therapy action plan to integrate health promotion into practice across the World Confederation for Physical Therapy (WCPT) regions. Working questions were: (1) how well is health promotion implemented within physical therapy practice; and (2) how might this be improved across five target audiences (i.e. physical therapist practitioners, educators, researchers, professional body representatives, and government liaisons/consultants). In structured facilitated sessions, Summit representatives (n=32) discussed: (1) within WCPT regions, what is working and the challenges; and (2) across WCPT regions, what are potential directions using World CaféTM methodology. Commonalities outweighed differences with respect to strategies to advance health-focused physical therapy as a clinical competency across regions and within target audiences. Participants agreed that health-focused practice is a professional priority, and a strategic action plan was needed to develop it as a clinical competency. The action plan and recommendations largely paralleled the principles and objectives of the World Health Organization's non-communicable diseases action plan. A third Summit planned for 2015 will provide a mechanism for follow-up to evaluate progress in integrating health-focused physical therapy within the profession.info:eu-repo/semantics/acceptedVersio

Illness severity and risk of mental morbidities among patients recovering from COVID-19: a cross-sectional study in the Icelandic population.

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 DownloadObjective: To test if patients recovering from COVID-19 are at increased risk of mental morbidities and to what extent such risk is exacerbated by illness severity. Design: Population-based cross-sectional study. Setting: Iceland. Participants: A total of 22 861 individuals were recruited through invitations to existing nationwide cohorts and a social media campaign from 24 April to 22 July 2020, of which 373 were patients recovering from COVID-19. Main outcome measures: Symptoms of depression (Patient Health Questionnaire), anxiety (General Anxiety Disorder Scale) and posttraumatic stress disorder (PTSD; modified Primary Care PTSD Screen for DSM-5) above screening thresholds. Adjusting for multiple covariates and comorbidities, multivariable Poisson regression was used to assess the association between COVID-19 severity and mental morbidities. Results: Compared with individuals without a diagnosis of COVID-19, patients recovering from COVID-19 had increased risk of depression (22.1% vs 16.2%; adjusted relative risk (aRR) 1.48, 95% CI 1.20 to 1.82) and PTSD (19.5% vs 15.6%; aRR 1.38, 95% CI 1.09 to 1.75) but not anxiety (13.1% vs 11.3%; aRR 1.24, 95% CI 0.93 to 1.64). Elevated relative risks were limited to patients recovering from COVID-19 that were 40 years or older and were particularly high among individuals with university education. Among patients recovering from COVID-19, symptoms of depression were particularly common among those in the highest, compared with the lowest tertile of influenza-like symptom burden (47.1% vs 5.8%; aRR 6.42, 95% CI 2.77 to 14.87), among patients confined to bed for 7 days or longer compared with those never confined to bed (33.3% vs 10.9%; aRR 3.67, 95% CI 1.97 to 6.86) and among patients hospitalised for COVID-19 compared with those never admitted to hospital (48.1% vs 19.9%; aRR 2.72, 95% CI 1.67 to 4.44). Conclusions: Severe disease course is associated with increased risk of depression and PTSD among patients recovering from COVID-19. Keywords: COVID-19; epidemiology; mental health; public health.Icelandic government NordFors

Áhrifaþættir þjálfunar hjá fólki með slitgigt : hvað hvetur, hvað letur?

Verkefnið er lokað til júlí 2010Bakgrunnur: Fram hafa komið rannsóknarniðurstöður sem benda til þess að fólk með slitgigt geti bætt líðan sína verulega með reglulegri líkamsþjálfun. Þrátt fyrir það virðist fólk með slitgigt þjálfa sig marktækt minna en jafnaldrar þess án gigtar og hafa takmarkaða þjálfunarheldni. Tilgangur: Að dýpka skilning á því hver reynsla fólks með slitgigt er af þjálfun, hvað hvetur og hvað letur þessa einstaklinga til þjálfunar. Aðferð: Þátttakendur voru tólf manns, valdir með tilgangsúrtaki, 50 – 82 ára, 9 konur og 3 karlmenn. Rannsóknaraðferðin var eigindleg, byggð á Vancouver-skólanum í fyrirbæra-fræði, sem leggur áherslu á opnar, óstaðlaðar samræður. Niðurstöður: Áhugahvöt og afstaðan til verkja voru lykilatriði í því hvort þátttakendur náðu að tileinka sér þjálfun sem lífsstíl við breyttar aðstæður. Aðrir einstaklingsbundnir áhrifaþættir voru aðlögunarhæfni, framtakssemi, heilbrigðis- og þjálfunarviðhorf og fyrri þjálfunarreynsla. Félagslegt umhverfi þátttakenda og afstaða fjölskyldu og fagfólks skipti máli. Raunhæft mat sjúkraþjálfara á getu þátttakenda til þjálfunar og samskiptin þeirra á milli voru einnig mikilsverðir þættir. Efnislegir áhrifaþættir á borð við veðurfar, aðstöðuna til þjálfunar og ferlimál gátu verið hvort sem var hagstæðir eða óhagstæðir. Vandkvæði með persónulegt hreinlæti var nefnt sem letjandi til þjálfunar. Ályktanir: Mikilvægt er að fagaðilar átti sig á því að áhugahvöt skjólstæðinganna getur verið hvort heldur er ánægjuhvöt og/eða árangurshvöt, að afstaðan til verkja sé lykilatriði og að margvíslegir þættir, bæði einstaklingsbundnir og efnislegir geta hvort sem er hvatt eða latt til þjálfunar. Efla þarf vitund lækna um mikilvægi þjálfunar hjá fólki með slitgigt, rétt mat sjúkraþjálfara á getu fólks með slitgigt getur verið grundvallaratriði í því að það nái að tileinka sér þjálfun og mikilvægt er að fagfólk tileinki sér faglega umhyggju. Mögulegt er að nota niðurstöður rannsóknarinnar sem grunn að matstæki fyrir hvetjandi og letjandi þætti til þjálfunar.FÍS

ICF flokkunarkerfið og áhrif þess á sjúkraþjálfun

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenKröfur um árangur og sannanir fyrir gagnsemi meðferðar innan heilbrigðiskerfisins hafa aukist mjög síðustu ár en mælikvarða á árangur hefur vantað tilfinnanlega. Því er ekki að undra að á nokkrum undanförnum árum hefur áhugi á ICF-flokkunarkerfinu farið vaxandi meðal fagfólks og stjórnenda í endurhæfingu hér á landi sem erlendis

Andleg líðan kvenna á meðgöngu : samanburður á ráðgerðri og óráðgerðri þungun

Tilgangur rannsóknarinnar var að kanna andlega líðan kvenna á meðgöngu og bera saman við ráðgerða og óráðgerða þungun og vildu rannsakendur einnig vita hvort þörf væri á mismunandi þjónustu fyrir þessa hópa. Ýmsar erlendar rannsóknir sýna að þunglyndiseinkenni eru algengari á meðgöngu en eftir barnsburð en hér á landi er einungis gerð kembileit að þunglyndiseinkennum eftir barnsburð. Notast var við megindlegt rannsóknarsnið og þátttakendur voru valdir með þægindaúrtaki. Konur sem leituðu til mæðraverndar Heilsugæslustöðvarinnar á Akureyri (HAK), á tímabilinu 20. janúar 2005 til 20. mars 2005, fengu afhentan spurningalista sem samsettur var úr Edinborgar-þunglyndiskvarðanum eða Edinburgh Postnatnal Depression Scale (EPDS), lýðfræðilegum spurningum og spurningum sem rannsakendur þróuðu sjálfir. Við tölfræðilega úrvinnslu var notast við hugbúnaðinn Statistical Package for Social Sciences (SPSS) og töflureikninn Microsoft Excel. Rannsóknarspurningarnar voru tvær: - Hvernig er andleg líðan kvenna á meðgöngu, samkvæmt EPDS kvarðanum, sem leita til mæðraverndar HAK? - Er munur á andlegri líðan kvenna á meðgöngu, samkvæmt EPDS kvarðanum, sem leita til mæðraverndar HAK, eftir því hvort þungunin var ráðgerð eða ekki? Tilgáta rannsakenda: - Andleg líðan kvenna á meðgöngu, sem ráðgera ekki þungun, er verri en hjá konum sem ráðgera þungun. Samkvæmt niðurstöðum rannsóknarinnar virtist andleg líðan kvenna sem leituðu til mæðraverndar HAK ekki nógu góð. Þriðjungur kvennanna skoruðu níu stig eða fleiri á EPDS iv kvarðanum, en þær konur sem skora níu stig eða fleiri eru líklegar til að upplifa andlega vanlíðan. Konur sem ráðgera ekki þungun eru líklegri til að skora hærra á EPDS kvarðanum, virðast hafa minni stuðning, minni menntun og búa við verri fjárhag. Það má því leiða líkur að því að þessar konur geti þurft meiri stuðning frá heilsugæslunni en þær sem ráðgera þungun. Rannsakendur telja í ljósi niðurstaðna að bæta megi þjónustu við þungaðar konur með því að hefja kembileit að þunglyndiseinkennum á meðgöngu en þannig má draga úr og jafnvel koma í veg fyrir þunglyndiseinkenni á og eftir meðgöngu og auka vellíðan móður og barns. Lykilhugtök: Mæðravernd HAK, EPDS þunglyndiskvarðinn, andleg líðan, ráðgerð þungunar, meðgang

Loss of heterozygosity at the FHIT gene in different solid human tumours and its association with survival in colorectal cancer patients

BACKGROUND: Genomic alterations and abnormal expression of the FHIT gene have been reported for a number of cancers. FHIT encompasses FRA3B, the most common fragile site in the human genome, and is suggested to be a candidate tumour suppressor gene. MATERIALS AND METHODS: We analysed and compared the loss of heterozygosity (LOH) pattern in 397 solid human tumours from 9 different locations, using four polymorphic microsatellite markers within the gene (D3S1234, D3S1300, D3S2757 and D3S4260), and two markers (D3S1313 and D3S1600) flanking the gene. In addition, we tested whether there was an association between FHIT LOH and overall patient survival in colorectal cancer. RESULTS: LOH at the FHIT gene affecting at least one of the investigated markers was detected in 166 out of 332 informative tumours, or 50%. The highest detected LOH was in lung tumours (66%) while the lowest was in thyroid and endometrium tumours, (30% and 31%, respectively). Breakpoints were found inside the gene in all tumour types in 12-80% of the tumours with FHIT LOH depending on tumour type, and up to 41% could additionally be located adjacent to the 3' or 5' end of the FHIT gene. Thus we were able to locate breakpoints within or in the vicinity of the FHIT gene in 25-100% of different tumours with LOH. Although not statistically significant, we observed a trend towards a poorer survival of patients with FHIT LOH versus those with retention of heterozygosity. CONCLUSION: Based on our results, LOH of the FHIT gene is a common event in all tumour types analysed with a possible association with poorer survival in colorectal cancer patients. LOH at all markers analysed was, in most of the tumour types, a more common pattern of alterations than breakpoints.This work was financially supported by the Science fund of the Icelandic Cancer Society, the Research fund of the University of Iceland and the Science fund of the University Hospital of Iceland

Health effects following the Eyjafjallajökull volcanic eruption : a cohort study

OBJECTIVES: The study aimed to determine whether exposure to a volcanic eruption was associated with increased prevalence of physical and/or mental symptoms. DESIGN: Cohort, with non-exposed control group. SETTING: Natural disasters like volcanic eruptions constitute a major public-health threat. The Icelandic volcano Eyjafjallajökull exposed residents in southern Iceland to continuous ash fall for more than 5 weeks in spring 2010. This study was conducted during November 2010-March 2011, 6-9 months after the Eyjafjallajökull eruption. PARTICIPANTS: Adult (18-80 years of age) eruption-exposed South Icelanders (N=1148) and a control population of residents of Skagafjörður, North Iceland (N=510). The participation rate was 72%. MAIN OUTCOME MEASURES: Physical symptoms in the previous year (chronic), in the previous month (recent), General Health Questionnaire (GHQ-12) measured psychological morbidity. RESULTS: The likelihood of having symptoms during the last month was higher in the exposed population, such as; tightness in the chest (OR 2.5; 95% CI 1.1 to 5.8), cough (OR 2.6; 95% CI 1.7 to 3.9), phlegm (OR 2.1; 95% CI 1.3 to 3.2), eye irritation (OR 2.9; 95% CI 2.0 to 4.1) and psychological morbidity symptoms (OR 1.3; 95% CI 1.0 to 1.7). Respiratory symptoms during the last 12 months were also more common in the exposed population; cough (OR 2.2; 95% CI 1.6 to 2.9), dyspnoea (OR 1.6; 95% CI 1.1 to 2.3), although the prevalence of underlying asthma and heart disease was similar. Twice as many in the exposed population had two or more symptoms from nose, eyes or upper-respiratory tract (24% vs 13%, p<0.001); these individuals were also more likely to experience psychological morbidity (OR 4.7; 95% CI 3.4 to 6.5) compared with individuals with no symptoms. Most symptoms exhibited a dose-response pattern within the exposed population, corresponding to low, medium and high exposure to the eruption. CONCLUSIONS: 6-9 months after the Eyjafjallajökull eruption, residents living in the exposed area, particularly those closest to the volcano, had markedly increased prevalence of various physical symptoms. A portion of the exposed population reported multiple symptoms and may be at risk for long-term physical and psychological morbidity. Studies of long-term consequences are therefore warranted

Interstitial deletions including chromosome 3 common eliminated region 1 (C3CER1) prevail in human solid tumors from 10 different tissues

A human chromosomal segment regularly lost during tumor formation of microcell hybrids in SCID mice has been mapped to 3p21.3. This segment, called chromosome 3 common eliminated region 1 (C3CER1, also referred to as CER1), may harbor multiple tumor-suppressor genes. Because it was found that similar regions were eliminated in an inter- and intraspecies system and in two tumor types (mouse fibrosarcoma and human renal cell carcinoma), we hypothesized that the importance of C3CER1 would transgress tissue specificity, that is, it could occur in tumors derived from multiple tissues. To evaluate the loss of C3CER1 in various human tumor types, we conducted loss of heterozygosity (LOH) analysis of 576 human solid tumors from 10 different tissues and compared the frequency of deletion in the C3CER1 area to that in two other regions on 3p: the FHIT/FRA3B region, at 3p14.2, and the VHL region, at 3p25.3. Deletions were detected in the C3CER1 region in 83% of informative tumors. Half (47%) the LOH-positive tumors showed LOH at all informative markers, indicating a large deletion. The other half (53%) had a discontinuous LOH pattern, suggesting interstitial deletions or breakpoints. The proportion of tumors with C3CER1 deletions was high in all tumor types investigated, ranging from 70% to 94%, except for the soft-tissue sarcomas (40%). In the VHL and FHIT regions, deletions were observed in 73% and 43%, respectively, of the tumors. Of the three 3p regions analyzed, the highest deletion frequency was observed in the C3CER1 region. Furthermore, we demonstrated that the interstitial deletions including C3CER1 prevail over 3p14.2-pter losses in solid tumors.Science Fund of the Icelandic Cancer Society, Science Fund of Landspitali University Hospital, Memorial Fund of Bergthora Magnusdottir and Jakob B. Bjarnason