• A 10-year follow-up of snoring in men

      Lindberg, E; Taube, A; Janson, C; Gislason, T; Svärdsudd, K; Boman, G; Department of Lung Medicine and Asthma Research Centre, Uppsala University, Akademiska Sjukhuset, Sweden. (American College of Chest Physicians, 1998-10-01)
      STUDY OBJECTIVES: Little is known about the natural development of snoring, and this survey was conducted to study the development of snoring in men over a 10-year period. DESIGN: Population-based prospective survey. SETTING: The Municipality of Uppsala, Sweden. PARTICIPANTS AND MEASUREMENTS: In 1984, 3,201 randomly selected men aged 30 to 69 years answered a questionnaire on snoring and sleep disturbances. Of the 2,975 survivors in 1994, 2,668 (89.7%) answered a new questionnaire with identical questions to those used at baseline. Questions about smoking habits, alcohol, and physical activity were also added. RESULTS: Habitual snoring was reported by 393 men (15.0%) in 1984 and by 529 (20.4%) 10 years later. In both 1984 and 1994, the prevalence of snoring increased until age 50 to 60 years and then decreased. Risk factors for being a habitual snorer at the follow-up were investigated using multiple logistic regression with adjustments for previous snoring status, age, body mass index (BMI), weight gain, smoking habits, and physical activity. In men aged 30 to 49 years at baseline, the predictors of habitual snoring at the follow-up, in addition to previous snoring status, were as follows: persistent smoking (adjusted odds ratio, 95% confidence interval) (1.4, 1.1 to 1.9), BMI 1984 (1.1, 1.02 to 1.1/kg/m2) and weight gain (1.1, 1.03 to 1.2/kg/m2). Among men aged 50 to 69 years, after adjustments for previous snoring status and age, weight gain was the only significant risk factor for developing habitual snoring (1.2, 1.05 to 1.4/kg/m2). CONCLUSIONS: In men, the prevalence of snoring increases up to the age of 50 to 60 years and is then followed by a decrease. Weight gain is a risk factor for snoring in all age groups, while smoking is mainly associated with snoring in men <60 years of age.
    • 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.

      Ulfarsson, M O; Walters, G B; Gustafsson, O; Steinberg, S; Silva, A; Doyle, O M; Brammer, M; Gudbjartsson, D F; Arnarsdottir, S; Jonsdottir, G A; Gisladottir, R S; Bjornsdottir, G; Helgason, H; Ellingsen, L M; Halldorsson, J G; Saemundsen, E; Stefansdottir, B; Jonsson, L; Eiriksdottir, V K; Eiriksdottir, G R; Johannesdottir, G H; Unnsteinsdottir, U; Jonsdottir, B; Magnusdottir, B B; Sulem, P; Thorsteinsdottir, U; Sigurdsson, E; Brandeis, D; Meyer-Lindenberg, A; Stefansson, H; Stefansson, K; [ 1 ] deCODE Genet Amgen, Sturlugata 8, Reykjavik 101, Iceland Show the Organization-Enhanced name(s) [ 2 ] Univ Iceland, Fac Elect & Comp Engn, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 3 ] Cardiff Univ, Brain Imaging Res Ctr, Cardiff, S Glam, Wales Show the Organization-Enhanced name(s) [ 4 ] Kings Coll London, Inst Psychiat, London, England Show the Organization-Enhanced name(s) [ 5 ] Univ Iceland, Fac Phys Sci, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 6 ] Landspitali Natl Univ Hosp, Dept Psychiat, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 7 ] Univ Iceland, Fac Med, Reykjavik, Iceland [ 8 ] State Diag & Counselling Ctr, Kopavogur, Iceland [ 9 ] Rontgen Domus, Reykjavik, Iceland [ 10 ] Univ Reykjavik, Sch Business, Reykavik, Iceland Show the Organization-Enhanced name(s) [ 11 ] Univ Zurich, Psychiat Hosp, Dept Child & Adolescent Psychiat & Psychotherapy, Zurich, Switzerland Show the Organization-Enhanced name(s) [ 12 ] Heidelberg Univ, Med Fac Mannheim, Cent Inst Mental Hlth, Mannheim, Germany (Nature Publishing Group, 2017-04-25)
      Several copy number variants have been associated with neuropsychiatric disorders and these variants have been shown to also influence cognitive abilities in carriers unaffected by psychiatric disorders. Previously, we associated the 15q11.2(BP1-BP2) deletion with specific learning disabilities and a larger corpus callosum. Here we investigate, in a much larger sample, the effect of the 15q11.2(BP1-BP2) deletion on cognitive, structural and functional correlates of dyslexia and dyscalculia. We report that the deletion confers greatest risk of the combined phenotype of dyslexia and dyscalculia. We also show that the deletion associates with a smaller left fusiform gyrus. Moreover, tailored functional magnetic resonance imaging experiments using phonological lexical decision and multiplication verification tasks demonstrate altered activation in the left fusiform and the left angular gyri in carriers. Thus, by using convergent evidence from neuropsychological testing, and structural and functional neuroimaging, we show that the 15q11.2(BP1-BP2) deletion affects cognitive, structural and functional correlates of both dyslexia and dyscalculia.
    • A [17F]-fluoromethane PET/TMS study of effective connectivity

      Ferrarelli, Fabio; Haraldsson, H Magnus; Barnhart, Todd E; Roberts, Andy D; Oakes, Terrence R; Massimini, Marcello; Stone, Charles K; Kalin, Ned H; Tononi, Giulio (Elsevier Science, 2004-08-30)
      We used transcranial magnetic stimulation (TMS) in combination with positron emission tomography (PET) to investigate the effective connectivity of four cortical regions within the same study. By employing [17F]-[CH3F] ([17F]-fluoromethane) as a radiotracer of blood-flow, we were able to obtain increased sensitivity compared to [15O]-H2O for both cortical and subcortical structures. The brain areas investigated were left primary motor cortex, right primary visual cortex, and left and right prefrontal areas. We found that each site of stimulation yielded a different pattern of activation/deactivation consistent with its anatomical connectivity. Moreover, we found that TMS of prefrontal and motor cortical areas gave rise to trans-synaptic activation of subcortical circuits.
    • [(18)F]Fluorodeoxyglucose-positron emission tomography/computed tomography response evaluation can predict histological response at surgery after induction chemotherapy for oligometastatic bladder cancer.

      Kollberg, Petter; Almquist, Helen; Bläckberg, Mats; Cwikiel, Magdalena; Gudjonsson, Sigurdur; Lyttkens, Kerstin; Patschan, Oliver; Liedberg, Fredrik; [ 1 ] Helsingborg Cty Hosp, Dept Urol, Helsingborg, Sweden Show the Organization-Enhanced name(s) [ 2 ] Lund Univ, Dept Translat Med, Lund, Sweden Show the Organization-Enhanced name(s) [ 3 ] Skane Univ Hosp, Dept Med Imaging & Physiol, Lund, Sweden Show the Organization-Enhanced name(s) [ 4 ] Skane Univ Hosp, Dept Oncol, Lund, Sweden Show the Organization-Enhanced name(s) [ 5 ] Landspitali Univ Hosp, Dept Urol, Reykjavik, Iceland Show the Organization-Enhanced name(s) [ 6 ] Skane Univ Hosp, Dept Urol, Malmo, Sweden (Taylor & Francis, 2017-08)
      Repeated FDG-PET/CT seems to predict histological response. However, with the histological response criteria used in this study, five non-responders were not identified by the second FDG-PET/CT investigation.
    • 2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

      Arnadottir, Margret; Laxdal, Throstur; Halldorsdottir, Bergljot (Taylor & Francis, 2005-02-01)
      Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there may be minimal consequences, there may be infiltration of the tubulointerstitial tissue with acute or chronic damage or there may be stone formation in the urinary tract. Effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis. Treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. Urinary 2,8-dihydroxyadenine crystals are easily recognized under a microscope. The diagnosis of 2,8-dihydroxyadeninuria can be confirmed by estimation of adenine phosphoribosyltransferase activity in erythrocyte lysates. More than 300 cases of 2,8-dihydroxyadeninuria have been diagnosed worldwide, most of them in Japan, France and Iceland. One case has been reported in Finland but there have been no reports from the Scandinavian peninsula or from Denmark. The relevant mutations may be very rare in these countries but underdiagnosis is also possible.
    • The 2-year course following detoxification treatment of substance abuse: the possible influence of psychiatric comorbidity

      Tomasson, K; Vaglum, P; Department of Psychiatry, National University Hospital, Landspítalinn, Reykjavík, Iceland. (Springer, 1997)
      The influence of psychiatric comorbidity on the course and outcome in a nationwide representative sample (n = 351) of treatment-seeking substance users over a 28-month period was studied prospectively. The patients were administered the Diagnostic Interview Schedule and a questionnaire on drinking history. At 16 and 28 months after admission the patients returned a questionnaire on drinking history and mental health. In cases of those lacking information on either follow-up (45%), details on drinking status was obtained from informants. Completely abstinent were 16%. Generalized anxiety disorder and/or social phobia at the index admission predicted abstinence during the follow-up [odds ratio (OR) = 0.25], whereas onset of alcoholism among these patients after age 25 years predicted a worse prognosis (OR = 13.5). Also increasing number of social consequences related to abuse (OR = 1.3) and drinking more than the median (OR = 2.1) predicted a poor outcome. The abstinent group had significantly better mental health at follow-up. The patients with comorbid psychiatric disorders at admission were worse at follow-up. Although substance use disorders and comorbid psychiatric disorders have to a certain degree separate courses, there is nevertheless significant interaction between them. Early treatment and recognition of comorbid psychiatric disorders among substance abusers is necessary.
    • 20 years follow-up after the first microsurgical lumbar discectomies in Iceland

      Jensdottir, M; Gudmundsson, K; Hannesson, B; Gudmundsson, G (Springer Verlag, 2007-01-01)
      Background. Microsurgical discectomies are an established procedure in spinal surgery. This operating technique was first used in the Department of Neurosurgery in Iceland in 1981 and has become standard operative treatment for herniated lumbar discs. There is a great variability in outcome reports regarding recurrence rate and re-operation rate. Few articles are based on follow-up of more than 10 years. This article presents the results of a 20 years follow-up study. Methods. A retrospective study of all patients undergoing microsurgical discectomy for herniated lumbar disc, from June 1, 1981 to December 31, 1984. Outcome, based on recurrence rate, return to work and patient satisfaction was determined by a self-evaluation questionnaire, phone interviews and patient medical records. Findings. Of the 170 patients, 134 (78.8%) were included in the study (M:F, 58:42%). Preoperative symptoms: back pain with sciatica 108 (80.6%), sciatica 20 (14.9%), back pain 2 (1.5%). Mean follow-up time was 20.7 years (19.5-22.8). Recurrence rate was 12.7%. 19 patients (14.2%) underwent a subsequent lumbar operation at a different level or side. A majority of patients 108 (80.6%) returned to previous level of work, 26 (19.4%) lost some or all working capabilities. Patient satisfaction was high, 91.1% reporting excellent (68.7%) or good (22.4%) results. 5.2% of patients rated the outcome fair and 3.7% poor. Women reported worse outcome than men, excellent M:F 74.7:60.7%, and poor 7.1:1.3%. There was no significant difference in patient satisfaction in patients undergoing additional operations or those with recurrence of the herniated disc. Conclusions. Outcome was very good with 92.0% return to work and 91.1% patient satisfaction. The recurrence rate was 12.7% with a substantial number of cases occuring 10-20 years after operation. To conclude, microsurgical discectomies maintain a high success rate in the long-term.
    • 2016 European Guidelines on cardiovascular disease prevention in clinical practice: The Sixth Joint Task Force of the European Society of Cardiology and Other Societies on Cardiovascular Disease Prevention in Clinical Practice (constituted by representatives of 10 societies and by invited experts): Developed with the special contribution of the European Association for Cardiovascular Prevention & Rehabilitation (EACPR).

      Piepoli, Massimo F; Hoes, Arno W; Agewall, Stefan; Albus, Christian; Brotons, Carlos; Catapano, Alberico L; Cooney, Marie-Therese; Corrà, Ugo; Cosyns, Bernard; Deaton, Christi; Graham, Ian; Hall, Michael Stephen; Hobbs, F D Richard; Løchen, Maja-Lisa; Löllgen, Herbert; Marques-Vidal, Pedro; Perk, Joep; Prescott, Eva; Redon, Josep; Richter, Dimitrios J; Sattar, Naveed; Smulders, Yvo; Tiberi, Monica; van der Worp, H Bart; van Dis, Ineke; Verschuren, W M Monique; De Backer, Guy; Roffi, Marco; Aboyans, Victor; Bachl, Norbert; Bueno, Héctor; Carerj, Scipione; Cho, Leslie; Cox, John; De Sutter, Johan; Egidi, Günther; Fisher, Miles; Fitzsimons, Donna; Franco, Oscar H; Guenoun, Maxime; Jennings, Catriona; Jug, Borut; Kirchhof, Paulus; Kotseva, Kornelia; Lip, Gregory Y H; Mach, François; Mancia, Giuseppe; Bermudo, Franz Martin; Mezzani, Alessandro; Niessner, Alexander; Ponikowski, Piotr; Rauch, Bernhard; Rydén, Lars; Stauder, Adrienne; Turc, Guillaume; Wiklund, Olov; Windecker, Stephan; Zamorano, Jose Luis; 1 Societies: European Society of Cardiology (ESC). 2 International Society of Behavioural Medicine (ISBM). 3 WONCA Europe. 4 European Atherosclerosis Society (EAS). 5 International Diabetes Federation European Region (IDF Europe). 6 International Federation of Sport Medicine (FIMS). 7 European Society of Hypertension (ESH). 8 European Association for the Study of Diabetes (EASD). 9 European Stroke Organisation (ESO). 10 European Heart Network (EHN). (Elsevier, 2016-07)
    • 2017 EACTS Guidelines on perioperative medication in adult cardiac surgery

      Sousa-Uva*, Miguel; Head, Stuart J; Milojevic, Milan; Collet, Jean-Philippe; Landoni, Giovanni; Castella, Manuel; Dunning, Joel; Gudbjartsson, Tómas; Linker, Nick J; Sandoval, Elena; Thielmann, Matthias; Jeppsson, Anders; Landmesser*, Ulf; [ 1 ] Hosp Santa Cruz, Dept Cardiac Surg, Av Prof Reinaldo dos Santos, P-2790134 Carnaxide, Portugal Show more [ 2 ] Univ Porto, Fac Med, Dept Cirurgia & Fisiol, Alameda Prof Hernani Monteiro, P-4200319 Porto, Portugal Show more [ 3 ] Charite Univ Med Berlin CBF, Dept Cardiol, Hindenburgdamm 30, D-12203 Berlin, Germany [ 4 ] BIH, Berlin, Germany [ 5 ] DZHK, Berlin, Germany (Oxford University Press, 2018-01)
    • 2018 EHRA expert consensus statement on lead extraction: recommendations on definitions, endpoints, research trial design, and data collection requirements for clinical scientific studies and registries: endorsed by APHRS/HRS/LAHRS

      Bongiorni, Maria G; Burri, Haran; Deharo, Jean C; Starck, Christoph; Kennergren, Charles; Saghy, Laszlo; Rao, Archana; Tascini, Carlo; Lever, Nigel; Kutarski, Andrzej; Fernandez Lozano, Ignacio; Strathmore, Neil; Costa, Roberto; Epstein, Laurence; Love, Charles; Blomstrom-Lundqvist, Carina; Fauchier, Laurent; Defaye, Pascal; Arnar, David O; Klug, Didier; Boveda, Serge; Nielsen, Jens Cosedis; Boriani, Giuseppe; Zhang, Shu; Martin, Andrew Paul; Prutkin, Jordan M; de Zuloaga, Claudio; 1 ] Univ Hosp Pisa, Dept Cardiol, Pisa, Italy Show more [ 2 ] Univ Hosp Geneva, Dept Cardiol, Geneva, Switzerland Show more [ 3 ] CHU Timone, Dept Cardiol, Marseilles, France Show more [ 4 ] German Heart Inst Berlin, Dept Cardiothorac & Vasc Surg, Berlin, Germany Show more [ 5 ] Sahlgrens Univ Hosp, Dept Cardiothorac Surg, Gothenburg, Sweden Show more [ 6 ] Univ Szeged, Dept Med 2, Electrophysiol Div, Szeged, Hungary Show more [ 7 ] Univ Szeged, Ctr Cardiol, Szeged, Hungary [ 8 ] Cardiothorac Ctr, Liverpool, Merseyside, England [ 9 ] Azienda Osped Colli, Cotugno Hosp, Div Infect Dis 1, Naples, Italy Show more [ 10 ] Auckland City Hosp, Green Lane Cardiovasc Serv, Auckland, New Zealand Show more [ 11 ] Med Univ, Dept Cardiol, Lublin, Poland Show more [ 12 ] Hosp Puerta Hierro, Serv Cardiol, Madrid, Spain Show more [ 13 ] Royal Melbourne Hosp, Dept Cardiol, Melbourne, Vic, Australia Show more [ 14 ] Hosp Clin Sao Paulo, Sao Paulo, Brazil Show more [ 15 ] Brigham & Womens Hosp, Div Cardiovasc Med, Clin Cardiac Electrophysiol, 75 Francis St, Boston, MA 02115 USA Show more [ 16 ] Ohio State Univ, Med Ctr, Div Cardiovasc Med, Columbus, OH 43210 USA Show more [ 17 ] Uppsala Univ, Inst Med Sci, Dept Cardiol, Uppsala, Sweden Show more [ 18 ] Ctr Hosp Univ Trousseau, Tours, France Show more [ 19 ] CHU Hop Albert Michallon, Unite Rythmol Serv Cardiol, Grenoble, France Show more [ 20 ] Landspitali Univ Hosp, Dept Cardiol, Reykjavik, Iceland Show more [ 21 ] CHRU Lille, Serv Cardiol A, Hop Cardiol, Lille, France [ 22 ] Clin Pasteur, Dept Cardiol, Toulouse, France Show more [ 23 ] Aarhus Univ Hosp, Dept Cardiol, Skejby, Aaehus, Denmark Show more [ 24 ] Modena Univ Hosp, Cardiol Dept, Modena, Italy Show more [ 25 ] Beijing Fuwai Hosp, Dept Cardiol, Beijing, Peoples R China Show more [ 26 ] Univ Washington, Med Ctr, Seattle, WA 98195 USA [ 27 ] Posadas Hosp Nacl, Buenos Aires, DF, Argentina; Department of Cardiology, University Hospital of Pisa, Pisa, Italy; Department of Cardiology, University Hospital of Geneva, Geneva, Switzerland; Department of Cardiology, CHU la Timone, Marseilles, France; Department of Cardiothoracic and Vascular Surgery, German Heart Institute Berlin, Berlin, Germany; Department of Cardiothoracic Surgery, Sahlgrenska University Hospital, Gothenburg, Sweden; Electrophysiology Division, 2nd Department of Medicine and Cardiology Center, University of Szeged, Szeged, Hungary; Cardiothoracic Centre, Liverpool, UK; First Division of Infectious Diseases, Cotugno Hospital, Azienda Ospedaliera dei Colli, Naples, Italy; APHRS Reviewer, Green Lane Cardiovascular Service, Auckland City Hospital, Auckland, New Zealand; Department of Cardiology, Medical University, Lublin, Poland; Servicio de Cardiología, Hospital Puerta de Hierro, Madrid, Spain; APHRS Reviewer, Department of Cardiology, Royal Melbourne Hospital, Melbourne, Australia; LAHRS Reviewer, Hospital das Clínicas, São Paulo, Brazil; HRS Reviewer, Clinical Cardiac Electrophysiology, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA, USA; HRS Reviewer, Division of Cardiovascular Medicine, the Ohio State University Medical Center Columbus, Ohio, USA; Department of Cardiology, Institution of Medical Science, Uppsala University, Sweden; Centre Hospitalier Universitaire Trousseau, Tours, France; CHU Hopital Albert Michallon, Unite de Rythmologie Service De Cardiologie, Grenoble, France; Landspitali University Hospital, Cardiology Department, Reykjavik, Iceland; Hopital Cardiologique, Chru Lille, Service De Cardiologie A, Lille, France; Clinique Pasteur, Cardiology Department, Toulouse, France; Department of Cardiology, Aarhus University Hospital, Skejby Sygehus, Aaehus, Denmark; Cardiology Department Modena University Hospital, Modena, Italy; Beijing Fuwai Hospital, Cardiology Department, Beijing, China; University of Washington Medical Center, Seattle, WA, USA; University of Washington Medical Center, Seattle, WA, USA; Posadas Hospital Nacional, Buenos Aires, Argentina (Oxford University Press, 2018-07)
    • 25-hydroxyvitamin D and cardiovascular disease in patients with systemic lupus erythematosus: data from a large international inception cohort.

      Lertratanakul, Apinya; Wu, Peggy; Dyer, Alan; Urowitz, Murray; Gladman, Dafna; Fortin, Paul; Bae, Sang-Cheol; Gordon, Caroline; Clarke, Ann; Bernatsky, Sasha; Hanly, John G; Isenberg, David; Rahman, Anisur; Merrill, Joan; Wallace, Daniel J; Ginzler, Ellen; Khamashta, Munther; Bruce, Ian; Nived, Ola; Sturfelt, Gunnar; Steinsson, Kristjan; Manzi, Susan; Dooley, Mary Anne; Kalunian, Kenneth; Petri, Michelle; Aranow, Cynthia; Font, Josep; van Vollenhoven, Ronald; Stoll, Thomas; Ramsey-Goldman, Rosalind; [ 1 ] Northwestern Univ, Chicago, IL 60611 USA [ 2 ] Toronto Western Hosp, Toronto, ON M5T 2S8, Canada [ 3 ] Univ Laval, Quebec City, PQ, Canada [ 4 ] CHU Quebec, Ctr Rech, Montreal, PQ, Canada [ 5 ] Hanyang Univ Hosp Rheumat Dis, Seoul, South Korea [ 6 ] Univ Birmingham, Birmingham, AL USA [ 7 ] McGill Univ, Montreal, PQ, Canada [ 8 ] Dalhousie Univ, Halifax, NS, Canada [ 9 ] Queen Elizabeth 2 Hlth Sci Ctr, Halifax, NS, Canada [ 10 ] UCL, London, England [ 11 ] Med Res Fdn, Oklahoma City, OK USA [ 12 ] Univ Calif Los Angeles, Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA [ 13 ] Suny Downstate Med Ctr, Brooklyn, NY 11203 USA [ 14 ] St Thomas Hosp, London, England [ 15 ] Kings Coll London, Sch Med, London WC2R 2LS, England [ 16 ] Univ Manchester, Manchester Acad Hlth Sci Ctr, Kellgren Ctr Rheumatol, NIHR Manchester Musculoskeletal Biomed Res Unit, Manchester, Lancs, England [ 17 ] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester, Lancs, England [ 18 ] Univ Lund Hosp, S-22185 Lund, Sweden [ 19 ] Landspitali Univ Hosp, Reykjavik, Iceland [ 20 ] Allegheny Gen Hosp, Pittsburgh, PA 15212 USA [ 21 ] Univ N Carolina, Chapel Hill, NC USA [ 22 ] Univ San Diego, San Diego, CA 92110 USA [ 23 ] Johns Hopkins Univ, Baltimore, MD USA [ 24 ] Feinstein Inst, New York, NY USA [ 25 ] Karolinska Inst, Stockholm, Sweden [ 26 ] Kantonsspital, Schaffhausen, Switzerland (Wiley-Blackwell, 2014-08)
      Lower baseline 25(OH)D levels are associated with higher risk for CV risk factors and more active SLE at baseline. There may be a trend toward a lower likelihood of CVD events in those with higher baseline 25(OH)D levels.
    • 3D False Color Computed Tomography for Diagnosis and Follow-Up of Permanent Denervated Human Muscles Submitted to Home-Based Functional Electrical Stimulation.

      Carraro, Ugo; Edmunds, Kyle J; Gargiulo, Paolo; 1IRRCS Fondazione Ospedale San Camillo , Venezia, Italy. 2Institute for Biomedical and Neural Engineering, Reykjavik University; Landspítali, Reykjavík, Iceland. (PagePress, 2015-03-11)
      This report outlines the use of a customized false-color 3D computed tomography (CT) protocol for the imaging of the rectus femoris of spinal cord injury (SCI) patients suffering from complete and permanent denervation, as characterized by complete Conus and Cauda Equina syndrome. This muscle imaging method elicits the progression of the syndrome from initial atrophy to eventual degeneration, as well as the extent to which patients' quadriceps could be recovered during four years of home-based functional electrical stimulation (h-b FES). Patients were pre-selected from several European hospitals and functionally tested by, and enrolled in the EU Commission Shared Cost Project RISE (Contract n. QLG5-CT-2001-02191) at the Department of Physical Medicine, Wilhelminenspital, Vienna, Austria. Denervated muscles were electrically stimulated using a custom-designed stimulator, large surface electrodes, and customized progressive stimulation settings. Spiral CT images and specialized computational tools were used to isolate the rectus femoris muscle and produce 3D and 2D reconstructions of the denervated muscles. The cross sections of the muscles were determined by 2D Color CT, while muscle volumes were reconstructed by 3D Color CT. Shape, volume, and density changes were measured over the entirety of each rectus femoris muscle. Changes in tissue composition within the muscle were visualized by associating different colors to specified Hounsfield unit (HU) values for fat, (yellow: [-200; -10]), loose connective tissue or atrophic muscle, (cyan: [-9; 40]), and normal muscle, fascia and tendons included, (red: [41; 200]). The results from this analysis are presented as the average HU values within the rectus femoris muscle reconstruction, as well as the percentage of these tissues with respect to the total muscle volume. Results from this study demonstrate that h-b FES induces a compliance-dependent recovery of muscle volume and size of muscle fibers, as evidenced by the gain and loss in muscle mass. These results highlight the particular utility of this modality in the quantitative longitudinal assessment of the responses of skeletal muscle to long-term denervation and h-b FES recovery.
    • 5-year incidence of age-related maculopathy in the Reykjavik Eye Study

      Jonasson, Fridbert; Arnarsson, Arsaell; Peto, Tunde; Sasaki, Hiroshi; Sasaki, Kazuyuki; Bird, Alan C (Elsevier, 2005-01-01)
      PURPOSE: To examine the age- and gender-specific 5-year incidence of age-related maculopathy (ARM) and age-related macular degeneration (AMD) in citizens of Reykjavik. DESIGN: Population-based, prospective cohort study. PARTICIPANTS: The cohort was a population-based random sample of citizens 50 years and older. Of 1379 eligible subjects, 1045 had a baseline examination in 1996; 846 of the 958 survivors (88.2%) had a 5-year follow-up examination in 2001. METHODS: The incidence of various characteristics of drusen and pigmentary changes that are typical of ARM were determined using the international classification and grading system for ARM and AMD. MAIN OUTCOME MEASURES: Early ARM and AMD were assessed by masked grading of stereo fundus photographs. RESULTS: Hypopigmentation developed at 5 years in 10.7% of people 50 to 59 years of age (95% confidence interval [CI], 6.9-14.4) and in 25.7% those 70 to 79 years of age (95% CI, 18.4-33.0) at baseline. Age-related macular degeneration developed in no one who was 50 to 59 years of age at baseline. Geographic atrophy (GA) developed in 4.6% (95% CI, 1.2-7.9) and exudative AMD in none of those who were 70 years and older at baseline. CONCLUSIONS: Geographic atrophy is the predominant type of AMD in Iceland, and the ratio of GA to neovascular AMD is higher than in racially similar populations.
    • 52 Genetic Loci Influencing Myocardial Mass.

      van der Harst, Pim; van Setten, Jessica; Verweij, Niek; Vogler, Georg; Franke, Lude; Maurano, Matthew T; Wang, Xinchen; Mateo Leach, Irene; Eijgelsheim, Mark; Sotoodehnia, Nona; Hayward, Caroline; Del Greco M, Fabiola; Levy, Daniel; Zhang, Weihua; Kellis, Manolis; Nolte, Ilja M; Silva, Claudia T; Padmanabhan, Sandosh; Tragante, Vinicius; Doevendans, Pieter A; Esko, Tõnu; Pers, Tune H; Bis, Joshua C; Bodmer, Rolf; Buckley, Brendan M; Campbell, Harry; Raychaudhuri, Soumya; Cannon, Megan V; Prins, Bram P; Dominiczak, Anna F; Ferrucci, Luigi; Ford, Ian; Bezzina, Connie R; Gieger, Christian; Sinagra, Gianfranco; Harris, Tamara B; Sehmi, Jobanpreet; Haugen, Eric; Kolcic, Ivana; Heinig, Matthias; Hernandez, Dena G; Raitakari, Olli T; Hillege, Hans L; Perz, Siegfried; Hirschhorn, Joel N; Hofman, Albert; Hubner, Norbert; Hwang, Shih-Jen; Macfarlane, Peter W; Iorio, Annamaria; Kooner, Ishminder K; Kooner, Jaspal S; Kors, Jan A; Lakatta, Edward G; Vitart, Veronique; Lage, Kasper; Visscher, Peter M; May, Dalit; Meitinger, Thomas; Metspalu, Andres; Nappo, Stefania; Munroe, Patricia B; Naitza, Silvia; Yang, Jian; Neph, Shane; Peters, Annette; Nord, Alex S; Nutile, Teresa; Meirelles, Osorio; Okin, Peter M; Sinner, Moritz F; Olsen, Jesper V; Oostra, Ben A; Penninger, Josef M; Rice, Ken M; Pennacchio, Len A; Pinto, Yigal M; Pfeufer, Arne; Pilia, Maria Grazia; Slowikowski, Kamil; Pramstaller, Peter P; Gasparini, Paolo; Rossin, Elizabeth J; Rotter, Jerome I; Schafer, Sebastian; Schlessinger, David; Chambers, John C; Schmidt, Carsten O; Newton-Cheh, Christopher; Soliman, Elsayed Z; Spector, Timothy D; Spiering, Wilko; Chen, Lin Y; Stamatoyannopoulos, John A; Lyytikäinen, Leo-Pekka; Stolk, Ronald P; Sorice, Rossella; Strauch, Konstantin; Völker, Uwe; Tan, Sian-Tsung; Tarasov, Kirill V; Hicks, Andrew A; Trinh, Bosco; Jukema, J Wouter; Uitterlinden, Andre G; van den Boogaard, Malou; van Duijn, Cornelia M; van Gilst, Wiek H; Snieder, Harold; Viikari, Jorma S; Waldenberger, Melanie; Weichenberger, Christian X; Westra, Harm-Jan; Wijmenga, Cisca; Andersen, Karl; Wolffenbuttel, Bruce H; Abecasis, Gonçalo R; Wright, Alan F; Rudan, Igor; Boyer, Laurie A; Asselbergs, Folkert W; Delitala, Alessandro; van Veldhuisen, Dirk J; Chakravarti, Aravinda; Stricker, Bruno H; Kääb, Stefan; Psaty, Bruce M; Ciullo, Marina; Adriaens, Michiel E; Sanna, Serena; Polašek, Ozren; Lehtimäki, Terho; Wilson, James F; Bandinelli, Stefania; Jamshidi, Yalda; Alonso, Alvaro; Gudnason, Vilmundur; Felix, Stephan B; Heckbert, Susan R; Tanaka, Toshiko; de Boer, Rudolf A; Kähönen, Mika; Visel, Axel; Christoffels, Vincent M; Isaacs, Aaron; Samani, Nilesh J; Lundby, Alicia; de Bakker, Paul I W; Launer, Lenore J; Arking, Dan E; Ulivi, Sheila; Trompet, Stella; Silljé, Herman H W; Müller-Nurasyid, Martina; Devereux, Richard B; Smith, Albert V; Dörr, Marcus; Kerr, Kathleen F; Barnett, Phil; Magnani, Jared W; e a Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; b Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; c Durrer Center for Cardiovascular Research, Netherlands Heart Institute, Utrecht, the Netherlands; d Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands; e Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands; f Development, Aging and Regeneration, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California; g Department of Genome Sciences, University of Washington, Seattle, Washington; h Department of Medicine, Division of Oncology, University of Washington, Seattle, Washington; i Department of Pathology, New York University Langone Medical Center, New York, New York; j Institute for Systems Genetics, New York University Langone Medical Center, New York, New York; k Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts; l Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; mDepartment of Internal Medicine, Erasmus Medical Center, Rotterdam, the Netherlands; n Division of Cardiology, Cardiovascular Health Research Unit, University of Washington, Seattle, Washington; o MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland; p Institute of Genetics and Biophysics A. Buzzati-Traverso, Naples, Italy; q Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland; r Department of Clinical Chemistry, Fimlab Laboratories, Tampere, Finland; s Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere, Finland; t Centre for Global Health Research, The Usher Institute for Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, Scotland; u Department of Public Health, Faculty of Medicine, University of Split, Split, Croatia; v Translational Gerontology Branch, National Institute on Aging, Baltimore, Maryland; wCenter for Complex Disease Genomics, McKusick–Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland; x Institute for Maternal and Child Health, IRCCS “Burlo Garofolo,” Trieste, Italy; y Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands; z Department of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands; aaDepartment of Medicine I, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians-University, Munich, Germany; bbInstitute of Medical Informatics, Biometry and Epidemiology, Genetic Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany; ccInstitute of Genetic Epidemiology, Helmholtz Zentrum München–German Research Center for Environmental Health, Neuherberg, Germany; ddDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany; Icelandic Heart Association, Kópavogur, Iceland; University of Iceland, Reykjavik, Iceland; ggDepartment of Internal Medicine B, University Medicine Greifswald, Greifswald, Germany; hhDZHK partner site, Greifswald, Germany; iiDepartment of Biostatistics, University of Washington, Seattle, Washington; jjSection of Cardiovascular Medicine, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts; kkCenter for Biomedicine, European Academy of Bozen/Bolzano (EURAC), Bolzano, Italy (Affiliated Institute of the University of Lübeck, Lübeck, Germany); llDepartment of Epidemiology and Biostatistics, Imperial College London, London, United Kingdom; mmEaling Hospital NHS Trust, Middlesex, United Kingdom; nnDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; ooGenetic Epidemiology Unit, Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands; ppDoctoral Program in Biomedical (Elsevier Biomedical, 2016-09-27)
      Taken together, our findings provide new insights into genes and biological pathways controlling myocardial mass and may help identify novel therapeutic targets.
    • 64,XX, SRY-, and ZFY-negative Icelandic horse likely to be true hermaphrodite

      Bodvarsdottir, S K; Imsland, F; Thorisson, B; Steinarsdottir, M; Eyfjord, J E (W. B. Saunders Co., 2009-10-01)
      A 4-year-old Icelandic horse, considered to be a mare, showed stallion-like behavior in a group of mares. On clinical examination, the horse turned out to have an enlarged erectable phallic clitoris. Ultrasound examination showed a normal-sized left ovary covered with numerous small follicular cysts and a compact testis-like tissue in place of the right ovary. The karyotype was normal for a mare (64,XX), and the horse was found to be negative for the Y chromosome-specific markers SRY, ZFY, and EIF1AY. This case indicates that the intersexual phenotype may be caused by autosomal recessive mutation, resulting in defects in cortisol biosynthesis rather than transferal of Y chromosome male-specific genes. This is the first report of an intersexual phenotype in an Icelandic horse that is likely to be a true hermaphrodite because of female sex chromosomes and a mixture of female and male gonads and external genitals.
    • The 7-year cumulative incidence of cornea guttata and morphological changes in the corneal endothelium in the Reykjavik Eye Study.

      Zoega, Gunnar M; Arnarsson, Arsaell; Sasaki, Hiroshi; Söderberg, Per G; Jonasson, Fridbert; Uppsala Univ, Dept Neurosci, Gullstrand Lab, Uppsala, Sweden Univ Akureyri, Akureyri, Iceland Kanazawa Med Univ, Dept Ophthalmol, Uchinada, Ishikawa 92002, Japan Univ Iceland, Dept Ophthalmol, IS-101 Reykjavik, Iceland Landspitali Univ Hosp IS-101 Reykjavik, Iceland (Wiley-Blackwell, 2013-05)
      The cumulative 7-year incidence of primary central CG for a middle-aged and older Caucasian population without history of potentially confounding eye disease has been established. Women tend to have higher incidence if onset occurs at middle age. If CG is present, the cell density and the cell size variation decrease within a 7-year period.
    • A population based study of the prevalence of pain in Iceland

      Gunnarsdottir, Sigridur; Ward, Sandra E.; Serlin, Ronald C. (Elsevier BV, 2010-07-01)
      Prevalence estimates of pain differ depending on how it is defined and measured and on the populations studied. It has been estimated that on a given day, as many as 30-44% of the general population experience some kind of pain. Information about the prevalence of pain in Iceland is not available. The aims of this study were to evaluate the prevalence of pain of various origins among the general population of Iceland, to test hypotheses regarding relationships between pain, quality of life (QOL) and demographic variables, to evaluate participants' beliefs about causes of their pain, and to evaluate how those who experience pain manage it. A random sample of 1286 adults was drawn from a national registry holding information about all citizens of Iceland. Data were collected with a postal-survey. Pain was evaluated with the Brief Pain Inventory (BPI), with instructions modified to evaluate pain in the past week as opposed to the past 24. h. Of 1286 invited, 599 (46.6%) participated, of which, 232 had experienced pain in the past week (40.3%). Participants had a mean (SD) age of 44.94 (17.12) years and 56% were women. Those who had pain perceived their health to be worse than those who had not [. B= -0.91, SE = 0.15, Wald = 38.75, p= 0.00], but did not differ on other variables. Of 232 individuals reporting pain, 183 (79.6%) or 30.6% of the total sample had experienced pain for more than three months. On a scale from 0 " no pain" to 10 " pain as bad as I can imagine" the mean (SD) pain severity score (composite of four pain severity scores) for the 232 participants reporting pain was 3.21 (1.73) and pain interference with life activities 2.59 (1.98), also on a 0-10 scale. Pain severity predicted pain interference [. B= 0.71; F= 126.14; df = 1,206; p= 0.00], which mediated the effects of pain severity on mood and QOL. Between Pain Interference with Life and Positive Affect [. B= -0.06; F= 4.53; df = 1,196; p= 0.04], between Pain Interference and Negative Affect [. B= 0.15; F= 23.21; df = 1,196; p= 0.00], and between Pain Interference and Global Quality of Life [. B= -0.18; F= 29.11; df = 1,196; p= 0.00]. Most frequent causes for pain were strain injuries (n= 79), resulting from work or sports activity, arthritis (n= 39), mechanical problems (e.g. due to birth defects, curvature, slipped discs, etc.) (n= 37), various diseases (n= 31) and accidents (n= 30). Nineteen participants did not know what caused their pain. Treatments for pain varied, but most had used medications alone (n= 76) or in combination with other treatments (n= 61). The prevalence of pain in the general population of Icelandic adults is similar to what has been reported. Estimates of chronic pain are towards the higher end when compared to data from other European counties, yet comparable to countries such as Norway. This raises questions about possible explanations to be looked for in genetics or cultural point of view. This population based study provides valuable information about the prevalence of pain in Iceland and also supports findings previously reported about pain in the neighboring countries.
    • Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1.

      Bown, Matthew J; Jones, Gregory T; Harrison, Seamus C; Wright, Benjamin J; Bumpstead, Suzannah; Baas, Annette F; Gretarsdottir, Solveig; Badger, Stephen A; Bradley, Declan T; Burnand, Kevin; Child, Anne H; Clough, Rachel E; Cockerill, Gillian; Hafez, Hany; Scott, D Julian A; Futers, Simon; Johnson, Anne; Sohrabi, Soroush; Smith, Alberto; Thompson, Matthew M; van Bockxmeer, Frank M; Waltham, Matthew; Matthiasson, Stefan E; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Blankensteijn, Jan D; Teijink, Joep A W; Wijmenga, Cisca; de Graaf, Jacqueline; Kiemeney, Lambertus A; Assimes, Themistocles L; McPherson, Ruth; Folkersen, Lasse; Franco-Cereceda, Anders; Palmen, Jutta; Smith, Andrew J; Sylvius, Nicolas; Wild, John B; Refstrup, Mette; Edkins, Sarah; Gwilliam, Rhian; Hunt, Sarah E; Potter, Simon; Lindholt, Jes S; Frikke-Schmidt, Ruth; Tybjærg-Hansen, Anne; Hughes, Anne E; Golledge, Jonathan; Norman, Paul E; van Rij, Andre; Powell, Janet T; Eriksson, Per; Stefansson, Kari; Thompson, John R; Humphries, Steve E; Sayers, Robert D; Deloukas, Panos; Samani, Nilesh J; Department of Cardiovascular Sciences, University of Leicester; Landspitali The National University Hospital, Reykjavík, Iceland. (University of Chicago Pres, 2011-11-11)
      Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10(-5)) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p < 1 × 10(-5)). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 × 10(-10), odds ratio 1.15 [1.10-1.21]). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA. Gene-expression studies demonstrated a trend toward increased LRP1 expression for the rs1466535 CC genotype in arterial tissues; there was a significant (p = 0.029) 1.19-fold (1.04-1.36) increase in LRP1 expression in CC homozygotes compared to TT homozygotes in aortic adventitia. Functional studies demonstrated that rs1466535 might alter a SREBP-1 binding site and influence enhancer activity at the locus. In conclusion, this study has identified a biologically plausible genetic variant associated specifically with AAA, and we suggest that this variant has a possible functional role in LRP1 expression.
    • Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.

      Reynolds, D M; Hayashi, T; Cai, Y; Veldhuisen, B; Watnick, T J; Lens, X M; Mochizuki, T; Qian, F; Maeda, Y; Li, L; Fossdal, R; Coto, E; Wu, G; Breuning, M H; Germino, G G; Peters, D J; Somlo, S; Department of Medicine, Albert Einstein College of Medicine, Bronx, New York, USA. (American Society of Nephrology, 1999-11-01)
      It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in PKD2. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the disorder. The current study describes mutations in six type 2 ADPKD families. Two single base substitution mutations discovered in the ORF in exon 14 constitute the most COOH-terminal pathogenic variants described to date. One of these mutations is a nonsense change and the other encodes an apparent missense variant. Reverse transcription-PCR from patient lymphoblast RNA showed that, in addition, both mutations resulted in out-of-frame splice variants by activating cryptic splice sites via different mechanisms. The apparent missense variant produced such a strong splicing signal that the processed transcript from the mutant chromosome did not contain any of the normally spliced, missense product. A third mutation, a nonconservative missense change effecting a negatively charged residue in the third transmembrane span, is likely pathogenic and defines a highly conserved residue consistent with a potential channel subunit function for polycystin-2. The remaining three mutations included two frame shifts resulting from deletion of one or two bases in exons 6 and 10, respectively, and a nonsense mutation due to a single base substitution in exon 4. The study also defined a novel intragenic polymorphism in exon 1 that will be useful in analyzing "second hits" in PKD2. Finally, the study demonstrates that there are reduced levels of normal polycystin-2 protein in lymphoblast lines from PKD2-affected individuals and that truncated mutant polycystin-2 cannot be detected in patient lymphoblasts, suggesting that the latter may be unstable in at least some tissues. The mutations described will serve as critical reagents for future functional studies in PKD2.
    • The ability of suspected victims of childhood sexual abuse (CSA) to give evidence. Findings from the Children's House in Iceland

      Gudjonsson, Gisli; Sveinsdottir, Thorbjorg; Sigurdsson, Jon Fridrik; Jonsdottir, Johanna (Brunner - Routledge (US), 2010-08-01)
      The main objective of the study was to further the understanding of age-related differences in children's ability to give an account of suspected sexual abuse during questioning. Video recordings of 285 Investigative Interviews referred by police and judges to the Children's House in Reykjavik over a five-year period were analysed. The great majority of the youngest children (31/2-5 years), and almost all of the older children, had the basic abilities to give testimony, although there were major age-related differences in their understanding of why they were being interviewed, their ability to answer open-ended questions about the suspected abuse, describe the immediate antecedents, conversation with the perpetrator, events immediately after the abuse, and ability to sustain concentration during the interview. The findings show that the interview technique used in the Children's House, which is based on Child Advocacy Model principles and protocol, is being used effectively in Iceland.