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Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and genetic testing using next generation sequencing. In four affected siblings, two novel compound heteroz
A novel membraneless β-glucan/O2 enzymatic fuel cell was developed by combining a bioanode based on buckypaper modified with co-immobilized Agaricus meleagris pyranose dehydrogenase (AmPDH) and Rhodothermus marinus β-glucosidase (RmBgl3B) (RmBgl3B-AmPDH/buckypaper) with a biocathode based on solid graphite modified with Myrothecium verrucaria bilirubin oxidase (MvBOx/graphite). AmPDH was connected
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common coding variants in COL9A3 and TMPRSS3. Through exome sequencing of 108,415 cases and 329,581 controls, we observed rare coding associations with 11 Mendelian hearing
Several orogenies have shaped the bedrock of southern Sweden. While mafic intrusions represent significant sources of information for reconstructing geodynamics and crustal evolution, the characterization of the various generations of such intrusions in Sweden remains limited. We report in situ zircon U–Pb ages and Hf isotope data from a Fe-Ti eclogite and a coronitic metagabbro from the Eastern S
Background: In Sweden, cobalt chloride 0.5% has been included in the baseline series since the mid-1980s. A recent study from Stockholm showed that cobalt chloride 1% petrolatum (pet.) was more suitable than 0.5%. Cobalt chloride at 1.0% has been patch tested for decades in many European countries and around the world. Objectives: To study the suitability of patch testing to cobalt 1.0% vs 0.5% an
Land-use and land-cover change (LULCC) is one of the key drivers of anthropogenic climate change. In addition to greenhouse gases such as CO2 or CH4, LULCC affects also the emission of other carbon trace gases such as biogenic volatile organic compounds (BVOCs). We investigate the impact of changing LULCC on the emission of isoprene and monoterpenes during the 21st century using seven different la
Abstract Background Gender specific outcome for children with anorectal malformations (ARM) is rarely reported although it is important for medical care and in parent counseling. Purpose To assess bowel function according to the Krickenbeck system in relation to ARM-subtype, gender and age. Method All children born with ARM in 1998–2008 and referred to two centers in two different countries wer
A bench scale aerobic submerged membrane bioreactor (ASMBR) was used to treat diluted palm oil mill effluent (POME). For further improving the effluent quality and reduction of bio-fouling, powdered activated carbon (PAC) and zeolite were used as bio-fouling reducers (BM). We compared the performances of ASMBR without BFR (called BFR0) with ASMBR using BFR, namely 2 g/L PAC (BFR1), 4 g/L PAC (BFR2
The aim of the European project MASTER (MAnaging Speeds of Traffic on European Roads) is to produce information that can be cited in the preparation of national and EU decisions concerning speed management and standards for speed control equipment. For this purpose, the project seeks answers to three key questions:1) What are acceptable ranges of speeds?2) What are the key factors influencing dri
Sweden is among those countries in Europe that have the lowest number of organ donors per million population (PMP). Because of the low numbers of actual donors, it is important to identify the total number of potential donors. Thus, a prospective registration of all deceased patients at all intensive care units was introduced in the Southern Healthcare Region of Sweden, which has a population of 1
Massive MIMO can greatly increase both spectral and transmit-energy efficiency. This is achieved by allowing the number of antennas and RF chains to grow very large. However, the challenges include high system complexity and hardware energy consumption. Here we investigate the possibilities to reduce the required number of RF chains, by performing antenna selection. While this approach is not a ve
Influences on stratospheric aerosol during the first four months following the eruption of Kasatochi volcano (Alaska) were studied using observations at 10700 +/- 600 m altitude from the CARIBIC platform. Collected aerosol samples were analyzed for elemental constituents. Particle number concentrations were recorded in three size intervals together with ozone mixing ratios and slant column densiti
P>Few data illustrate the man's reaction to orchidectomy. We investigated long-lasting feelings of loss and uneasiness or shame about the body after removal of a testicle by orchidectomy. We identified 1173 eligible men diagnosed with non-seminomatous testicular cancer treated according to the national cancer-care programmes Swedish-Norwegian Testicular Cancer Group I-IV between 1981 and 2004. We
OBJECTIVE: To determine the impact of improved glycemic control on the development and progression of retinopathy after the institution of insulin therapy in patients with type 2 diabetes and to assess the relation to IGF-1 and hemostatic variables. RESEARCH DESIGN AND METHODS: In a prospective observational study, 45 type 2 diabetic patients were examined at baseline and 1, 3, 6, 12, and 24 month
Intact and permeabilized yeast cells were tested as the biorecognition elements for amperometric assay of formaldehyde (FA). For this aim, the mutant G 105 (gcr1 catX) of the methylotrophic yeast Hansenula polymorpha with a high activity of AOX was chosen. Different approaches were used for monitoring FA-dependent cell response including analysis of their oxygen consumption rate by the use of a Cl
