• Incidence and outcome of Guillain-Barré syndrome in Iceland: A population-based study.

  Hafsteinsdóttir, Brynhildur; Ólafsson, Elías; Jakobsson, Finnbogi; 1 Department of Neurology, Landspitali University Hospital, Reykjavik, Iceland. 2 School of Medicine, University of Iceland, Reykjavik, Iceland. (Wiley, 2018-11-01)

  In this study, we determine the incidence and outcomes of Guillain-Barré syndrome (GBS) in Iceland over a 20-year period. Cases were identified from the records of both referral hospitals in the country. All cases met the Brighton Criteria for GBS. Disability was assessed at diagnosis, peak of symptoms, discharge, and follow-up using the Guillain-Barré Disability Scale. Sixty-three individuals fulfilled the diagnostic criteria with an average age of onset of 46 years (range 1-89 years) and a male:female ratio of 1. The average annual incidence was 1.1 per 100 000 person-years. Nerve conduction studies were consistent with demyelinating polyneuropathy in 87% of cases, acute motor axonal neuropathy (AMAN) in 4%, and were normal in 9%. Treatment was received by 89% of patients and included IVIG (84%), plasmapheresis (8%), or both treatments (3%). Mechanical ventilation was required by 22% of patients. Long-term follow-up with an average length of 6.5 years was available for 98% of patients, and the average GBS disability score at follow-up was 0.9. Four deaths related to GBS (6%) were observed. We believe we have identified all patients diagnosed with GBS in Iceland during the study period, with an incidence comparable to recent studies from well-defined populations around the world. Our reported mortality is similar to or higher than other population-based studies. At follow-up, 13% of patients still required a walking aid, but most survivors (74%) had minor or no symptoms.
• 

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

  Arnadottir, Gudny A; Norddahl, Gudmundur L; Gudmundsdottir, Steinunn; Agustsdottir, Arna B; Sigurdsson, Snaevar; Jensson, Brynjar O; Bjarnadottir, Kristbjorg; Theodors, Fannar; Benonisdottir, Stefania; Ivarsdottir, Erna V; Oddsson, Asmundur; Kristjansson, Ragnar P; Sulem, Gerald; Alexandersson, Kristjan F; Juliusdottir, Thorhildur; Gudmundsson, Kjartan R; Saemundsdottir, Jona; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Manzanillo, Paolo; Gudjonsson, Sigurjon A; Thorisson, Gudmundur A; Magnusson, Olafur Th; Masson, Gisli; Orvar, Kjartan B; Holm, Hilma; Bjornsson, Sigurdur; Arngrimsson, Reynir; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Jonsdottir, Ingileif; Haraldsson, Asgeir; Sulem, Patrick; Stefansson, Kari; 1 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 3 Department of Internal Medicine, Landspitali University Hospital, Reykjavik, Iceland. 4 The Medical Center, Glaesibae, Reykjavik, Iceland. 5 Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 6 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 7 Children's Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland. 8 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. patrick.sulem@decode.is. 9 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. kari.stefansson@decode.is. 10 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is. (Nature Publishing Group, 2018-10-25)

  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 (gp91
• Reclassification of Treatment Strategy With Instantaneous Wave-Free Ratio and Fractional Flow Reserve: A Substudy From the iFR-SWEDEHEART Trial.

  Andell, Pontus; Berntorp, Karolina; Christiansen, Evald H; Gudmundsdottir, Ingibjörg J; Sandhall, Lennart; Venetsanos, Dimitrios; Erlinge, David; Fröbert, Ole; Koul, Sasha; Reitan, Christian; Götberg, Matthias; 1 Department of Cardiology, Clinical Sciences, Lund University, Skane University Hospital, Lund, Sweden. Electronic address: pontus.andell@med.lu.se. 2 Department of Cardiology, Clinical Sciences, Lund University, Skane University Hospital, Lund, Sweden. 3 Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark. 4 Department of Cardiology, University Hospital of Iceland, Reykjavik, Iceland. 5 Departments of Cardiology and Radiology, Helsingborg Hospital, Helsingborg, Sweden. 6 Departments of Cardiology and of Medical and Health Sciences, Linköping University, Linköping, Sweden. 7 Department of Cardiology, Faculty of Health, Örebro University, Örebro, Sweden. (Elsevier Science, 2018-10-22)

  The authors sought to compare reclassification of treatment strategy following instantaneous wave-free ratio (iFR) and fractional flow reserve (FFR). iFR was noninferior to FFR in 2 large randomized controlled trials in guiding coronary revascularization. Reclassification of treatment strategy by FFR is well-studied, but similar reports on iFR are lacking. The iFR-SWEDEHEART (Instantaneous Wave-Free Ratio Versus Fractional Flow Reserve in Patients With Stable Angina Pectoris or Acute Coronary Syndrome Trial) study randomized 2,037 participants with stable angina or acute coronary syndrome to treatment guided by iFR or FFR. Interventionalists entered the preferred treatment (optimal medical therapy [OMT], percutaneous coronary intervention [PCI], or coronary artery bypass grafting [CABG]) on the basis of coronary angiograms, and the final treatment decision was mandated by the iFR/FFR measurements. In the iFR/FFR (n = 1,009/n = 1,004) populations, angiogram-based treatment approaches were similar (p = 0.50) with respect to OMT (38%/35%), PCI of 1 (37%/39%), 2 (15%/16%), and 3 vessels (2%/2%) and CABG (8%/8%). iFR and FFR reclassified 40% and 41% of patients, respectively (p = 0.78). The majority of reclassifications were conversion of PCI to OMT in both the iFR/FFR groups (31.4%/29.0%). Reclassification increased with increasing number of lesions evaluated (odds ratio per evaluated lesion for FFR: 1.46 [95% confidence interval: 1.22 to 1.76] vs. iFR 1.37 [95% confidence interval: 1.18 to 1.59]). Reclassification rates for patients with 1, 2, and 3 assessed vessels were 36%, 52%, and 53% (p < 0.01).
• Risk of venous thromboembolism in patients with psoriatic arthritis, psoriasis and rheumatoid arthritis: a general population-based cohort study.

  Ogdie, Alexis; Kay McGill, Neilia; Shin, Daniel B; Takeshita, Junko; Jon Love, Thorvardur; Noe, Megan H; Chiesa Fuxench, Zelma C; Choi, Hyon K; Mehta, Nehal N; Gelfand, Joel M; 1 Division of Rheumatology, Department of Medicine, Center for Clinical Epidemiology and Biostatistics, Center for Pharmacoepidemiology Research and Training, Perelman School of Medicine at the University of Pennsylvania, White Building, Room 5024, 3400 Spruce St, Philadelphia, PA, USA. 2 Division of Rheumatology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. 3 Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, South Tower, 7th Floor, 3400 Civic Center Blvd, Philadelphia, PA, USA. 4 Department of Dermatology, Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. 5 Division of Rheumatology/Department of Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 6 Department of Science, Landspitali University Hospital, Reykjavik, Iceland. 7 Division of Rheumatology and Allergy/Immunology, Massachusetts General Hospital, 55 Fruit Street, Bulfinch 165, Boston, MA, USA. 8 Section of Inflammation and Cardiometabolic Diseases, National Heart, Lung, and Blood Institute, 10 Center Drive, Bethesda, MD, USA. 9 Department of Biostatistics and Epidemiology, Center for Clinical Epidemiology and Biostatistics, Center for Pharmacoepidemiology Research and Training, Perelman School of Medicine at the University of Pennsylvania, 8th Floor, Blockley Hall, 423 Guardian Drive, Philadelphia, PA, USA. (Oxford University Press, 2018-10-14)

  To determine the risk of venous thromboembolism (VTE) defined as the combined endpoint of deep venous thrombosis (DVT) and pulmonary embolism (PE) among patients with psoriatic arthritis (PsA), psoriasis and rheumatoid arthritis (RA) compared with population controls. A cohort study was conducted in a primary care medical record database in the UK with data from 1994-2014 among patients with PsA, RA, or psoriasis. Cox proportional hazards models were used to calculate the relative hazards for DVT, PE, and VTE. An interaction with disease modifying anti-rheumatic drugs (DMARD) was hypothesized a priori and was significant. Patients with PsA (n = 12 084), RA (n = 51 762), psoriasis (n = 194 288) and controls (n = 1 225 571) matched on general practice and start date were identified. Patients with RA (with and without a DMARD prescription) and patients with mild psoriasis had significantly elevated risks of VTE (HR 1.35, 1.29, and 1.07, respectively) after adjusting for traditional risk factors. Severe psoriasis and PsA prescribed a DMARD had an elevated but not statistically significant risk for VTE. Findings were similar for DVT. The age-and-sex-adjusted risk of PE was elevated in RA, severe psoriasis and PsA patients prescribed a DMARD. While systemic inflammation is a risk factor for VTE, the risk of VTE compared with controls is different among patients with three different inflammatory disorders: RA, PsA, and psoriasis.
• Recovery of Kidney Function in Children Treated with Maintenance Dialysis.

  Bonthuis, Marjolein; Harambat, Jérôme; Bérard, Etienne; Cransberg, Karlien; Duzova, Ali; Garneata, Liliana; Herthelius, Maria; Lungu, Adrian C; Jahnukainen, Timo; Kaltenegger, Lukas; Ariceta, Gema; Maurer, Elisabeth; Palsson, Runolfur; Sinha, Manish D; Testa, Sara; Groothoff, Jaap W; Jager, Kitty J; 1 European Society for Pediatric Nephrology/ European Renal Association-European Dialysis and Transplant Association Registry, Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands; m.bonthuis@amc.uva.nl. 2 Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France. 3 Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Nice-Hôpital Archet2, Nice, France. 4 Department of Pediatric Nephrology, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands. 5 Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. 6 Department of Internal Medicine and Nephrology, Carol Davila University of Medicine and Pharmacy, Dr. Carol Davila Teaching Hospital of Nephrology, Bucharest, Romania. 7 Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden. 8 Department of Pediatric Nephrology, Fundeni Clinical Institute, Bucharest, Romania and Carol Davila University of Medicine, Pediatrics, Bucharest, Romania. 9 Department of Pediatric Nephrology and Transplantation, Helsinki University Hospital and University of Helsinki, Helsinki, Finland. 10 Division of Pediatric Nephrology and Gastroenterology, Department of Pediatric and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. 11 Pediatric Nephrology Department, Hospital Universitari Vall d'Hébron, Universitat Autónoma de Barcelona, Barcelona, Spain. 12 Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland. 13 Division of Nephrology, Landspitali-The National University Hospital of Iceland, Reykjavik, Iceland and Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 14 Department of Pediatric Nephrology, Evelina London Children's Hospital, Guys and St Thomas' National Health Service Foundation Trust, London, United Kingdom. 15 Pediatric Nephrology and Dialysis Unit, Fondazione Instituto di Ricovero e cura a Carattere Scientifico, Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy; and. 16 Department of Pediatric Nephrology, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 17 European Society for Pediatric Nephrology/ European Renal Association-European Dialysis and Transplant Association Registry, Department of Medical Informatics, Academic Medical Center, University of Amsterdam, Amsterdam Public Health Research Institute, Amsterdam, The Netherlands. (American Society of Nephrology, 2018-10-08)

  Data on recovery of kidney function in pediatric patients with presumed ESKD are scarce. We examined the occurrence of recovery of kidney function and its determinants in a large cohort of pediatric patients on maintenance dialysis in Europe. Data for 6574 patients from 36 European countries commencing dialysis at an age below 15 years, between 1990 and 2014 were extracted from the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant Association Registry. Recovery of kidney function was defined as discontinuation of dialysis for at least 30 days. Time to recovery was studied using a cumulative incidence competing risk approach and adjusted Cox proportional hazard models. Two years after dialysis initiation, 130 patients (2%) experienced recovery of their kidney function after a median of 5.0 (interquartile range, 2.0-9.6) months on dialysis. Compared with patients with congenital anomalies of the kidney and urinary tract, recovery more often occurred in patients with vasculitis (11% at 2 years; adjusted hazard ratio [HR], 20.4; 95% confidence interval [95% CI], 9.7 to 42.8), ischemic kidney failure (12%; adjusted HR, 11.4; 95% CI, 5.6 to 23.1), and hemolytic uremic syndrome (13%; adjusted HR, 15.6; 95% CI, 8.9 to 27.3). Younger age and initiation on hemodialysis instead of peritoneal dialysis were also associated with recovery. For 42 patients (32%), recovery was transient as they returned to kidney replacement therapy after a median recovery period of 19.7 (interquartile range, 9.0-41.3) months. We demonstrate a recovery rate of 2% within 2 years after dialysis initiation in a large cohort of pediatric patients on maintenance dialysis. There is a clinically important chance of recovery in patients on dialysis with vasculitis, ischemic kidney failure, and hemolytic uremic syndrome, which should be considered when planning kidney transplantation in these children.

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