Case of the month: facial subcutaneous emphysema [case reports]

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn Skoða/Opna(view/open)91 árs áður hraustur karlmaður leitaði á heilsugæslu utan höfuðborgarsvæðisins vegna fjögurra daga sögu um vaxandi mæði og þrota í andliti. Hann tók engin lyf að staðaldri og hafði ekki þekkt ofnæmi. Nokkrum dögum áður hafði hann hlotið áverka á vinstri síðu við fall. Við skoðun var öndun hröð og andlit greinilega þrútið (mynd 1). Vegna gruns um ofnæmislost var manninum gefið adrenalín og bólgueyðandi sterar í æð. Honum versnaði enn frekar eftir lyfjagjöfina og var því fluttur með sjúkrabíl á Landspítala þar sem gerðar voru frekari rannsóknir, meðal annars myndrannsóknir af lungum (mynd 2). Hver er greiningin, helstu mismunagreiningar og meðferð

Relationship between body composition and glomerular filtration rate estimates in the general population.

To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.Differences in body composition may lead to imprecision in estimates of glomerular filtration rate (eGFR) derived from serum creatinine. Our aims were to examine the relationship between eGFR and anthropometric and body composition measures and handgrip strength.We analyzed data from a cross-sectional study comprising 1,630 randomly selected community-dwelling adults. The Modification of Diet in Renal Disease (MDRD) and Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations were used to calculate eGFR from IMDS-standardized serum creatinine. Body mass index and body surface area were calculated from measured height and weight. Body composition was determined by dual-energy x-ray absorptiometry, handgrip strength measured by a hand-held dynamometer. Regression analysis was used to examine the association between eGFR and other factors.In women, eGFR determined by the MDRD equation was inversely associated with height (β = -0.08; p = 0.012), lean mass percentage (β = -0.06; p = 0.047) and handgrip strength (β = -0.15; p < 0.001) and eGFR calculated using the CKD-EPI equation was inversely associated with handgrip strength (β = -0.08; p = 0.001). In men, there was an inverse association between eGFR by the MDRD equation and lean mass percentage (β = -0.10; p = 0.013) and handgrip strength (β = -0.12; p = 0.022) and between eGFR by the CKD-EPI equation and lean mass percentage (β = -0.07; p = 0.018). The R(2) for these variables was <0.02.The inverse relationship between eGFR and measures of lean mass percentage and handgrip strength suggests that incorporation of these variables might improve eGFR prediction from serum creatinine in the general population. This effect appears to be small however and needs to be examined in studies that include measured GFR

Lung volume reduction surgery for severe pulmonary emphysema in Iceland

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 DownloadInngangur: Lungnasmækkunaraðgerð (lung volume reduction surgery) getur bætt lungnastarfsemi, líðan og lífshorfur sjúklinga með alvarlega lungnaþembu. Tilgangur þessarar rannsóknar var að kanna árangur lungnasmækkunaraðgerða hér á landi. Efniviður og aðferðir: Framskyggn rannsókn á 16 sjúklingum sem gengust undir lungnasmækkunaraðgerð á Landspítala 1996-2008. Allir sjúklingarnir voru með lungnaþembu á háu stigi og aðgerðirnar gerðar í gegnum bringubeinsskurð. Fyrir aðgerð luku allir sjúklingarnir lungnaendurhæfingu. Mælingar á lungnastarfsemi, blóðgösum og þoli voru gerðar fyrir og eftir aðgerð. Lifun var könnuð með aðferð Kaplan-Meier og meðaleftirfylgd var 8,7 ár. Niðurstöður: Meðalaldur var 59,2 ± 5,9 ár og áttu allir sjúklingarnir sér langa reykingasögu. Allir sjúklingarnir lifðu aðgerðina af og lifun einu, fimm og tíu árum frá aðgerð var 100%, 93% og 63%. Eftir aðgerð hækkaði fráblástur á einni sekúndu (FEV1) um 35% (p<0,001), hámarksfráblástur (FVC) um 14% (p<0,05) og lungnarúmmál (TLC) og loftleif (RV) lækkuðu einnig (p<0,05). Hlutþrýstingur CO2 í slagæðablóði lækkaði einnig eftir aðgerð en hlutþrýstingur O2 hélst óbreyttur. Hvorki mældust marktækar breytingar á loftdreifiprófi, þoli né hámarksafkastagetu eftir aðgerð. Algengasti fylgikvilli eftir aðgerð var loftleki (n=7). Fimm sjúklingar gengust undir enduraðgerð, oftast vegna loss á bringubeini (n=4). Ályktun: Lungnastarfsemi batnaði marktækt eftir lungnasmækkun með hækkun á FEV1 og FVC, auk lækkunar á lungnarúmmáli og koltvísýringi í blóði. Lifun var svipuð og í erlendum rannsóknum, þó svo að tíðni fylgikvilla og enduraðgerða í þessum rannsóknarhópi væri há.Introduction: Lung volume reduction surgery (LVRS) can benefit patients with severe emphysema. The aim of this study was to evaluate the outcome of LVRS performed in Iceland. Materials and methods: A prospective study of 16 consecutive patients who underwent bilateral LVRS through median sternotomy between January 1996 and December 2008. All patients had disabling dyspnea, lung hyperinflation, and emphysema with upper lobe predominance. Preoperatively all patients underwent pulmonary rehabilitation. Spirometry, lung volumes, arterial blood gases and exercise capacity were measured before and after surgery. Mean follow-up time was 8.7 years. Results: Mean age was 59.2 ± 5.9 years. All patients had a history of heavy smoking. There was no perioperative mortality and survival was 100%, 93%, and 63% at 1, 5, and 10 years, respectively. The forced expiratory volume in 1 second (FEV1) and the forced vital capacity (FVC) improved significantly after surgery by 35% (p<0.001) and 14% (p<0.05), respectively. The total lung capacity, residual volume and partial pressure of CO2 also showed statistically significant improvements but exercise capacity, O2 consumption and diffusing capacity of the lung for CO did not change. Prolonged air leak (≥7 days) was the most common complication (n=7). Five patients required reoperation, most commonly for sternal dehiscence (n=4). Conclusion: In this small prospective study, FEV1 and FVC increased and lung volumes and PaCO2 improved after LVRS. Long term survival was satisfactory although complications such as reoperations for sternal dehiscence were common and hospital stay therefore often prolonged.Vísinda- og fræðslusjóður Félags fagfólks um hjarta- og lungnaendurhæfingu

First record of Risso's dolphin Grampus griseus (Cuvier, 1812) in Icelandic waters

Abstract In July 2022, two Risso's dolphins were reported stranded in Hrútafjörður (N65° 09,503; W21° 05,529), a fjord in northern Iceland. These events represent the first confirmed observations and strandings of Risso's dolphins in Icelandic waters. Given the uniqueness of these events, a decision was made to conduct full necropsies on these individuals. This study reports findings from viral and parasitological investigations, morphological and fitness measurements, as well as stomach and intestine content analysis for each of the Risso's dolphin specimens. The results of the necropsies do not suggest any other cause of death than lack of food and exhaustion. A large plastic fragment in one individual's stomach supports these suggestions. The presence of those specimens in the middle of the subarctic ocean illustrates ongoing changes in spatial distribution expanding northward, impacting not only Risso's dolphins but more generally marine life and biodiversity

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

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 DownloadCoarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA. We performed a genome-wide association study of CoA among Icelanders (120 cases and 355 166 controls) based on imputed variants identified through whole-genome sequencing. We found association with a rare (frequency = 0.34%) missense mutation p.Arg721Trp in MYH6 (odds ratio = 44.2, P = 5.0 × 10-22), encoding the alpha-heavy chain subunit of cardiac myosin, an essential sarcomere protein. Approximately 20% of individuals with CoA in Iceland carry this mutation. We show that p.Arg721Trp also associates with other CHDs, in particular bicuspid aortic valve. We have previously reported broad effects of p.Arg721Trp on cardiac electrical function and strong association with sick sinus syndrome and atrial fibrillation. Through a population approach, we found that a rare missense mutation p.Arg721Trp in the sarcomere gene MYH6 has a strong effect on the risk of CoA and explains a substantial fraction of the Icelanders with CoA. This is the first mutation associated with non-familial or sporadic form of CoA at a population level. The p.Arg721Trp in MYH6 causes a cardiac syndrome with highly variable expressivity and emphasizes the importance of sarcomere integrity for cardiac development and function.deCODE genetics/Amgen, Inc