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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
An increasing incidence of testicular cancer has been reported from several western countries during the last decades. According to current hypothesis testicular cancer is initiated during the foetal period and exposure to endocrine disruptors such as some persistent organic pollutants has been of concern. We have previously reported the results for concentrations of polychlorinated biphenyls (PCB
Abstract Background and ObjectiveFluorescence techniques can provide powerful noninvasive means for medical diagnosis, based on the detection of either endogenous or exogenous fluorophores. The fluorescence of δ-aminolevulinic acid (ALA)-induced protoporphyrin IX (PpIX) has already shown promise for the diagnosis of tumors. The aim of the study was to investigate the localization of skin tumors a
Magnesium chelatase (EC 6.6.1.1) catalyses the insertion of magnesium into protoporphyrin IX, the first unique step of the chlorophyll biosynthetic pathway. The enzyme is composed of three different subunits of approximately 40, 70 and 140 kDa. In barley (Hordeum vulgare L.) the subunits are encoded by the genes Xantha-h, Xantha-g and Xantha-f. In the 1950s, eight induced xantha-f mutants were iso
The clinical features of delta infection were analysed retrospectively in 191 hepatitis B surface antigen (HBsAg) carriers and 592 cases of acute hepatitis B seen over 11 years in the Swedish town of Malmo (population 250 000). With a few exceptions delta infections occurred exclusively in drug addicts. In the chronic HBsAg-carriers the most common clinical manifestation was an episode of acute he
BACKGROUND: Indications for implantable cardioverter defibrillator (ICD) implantation have expanded considerably in recent years, resulting in steadily growing numbers of ICD recipients worldwide. The aim of this study was to review the overall experience with ICDs in Iceland. METHODS: This was a retrospective single centre study set at the University Hospital in Iceland. Data on all ICD implantat
Aim: To explore whether the phrasing of the questions and the response alternatives would influence the answers to questions about legalisation of euthanasia. Methods: Results were compared from two different surveys in populations with similar characteristics. The alternatives "positive'', "negative'', and "don't know'' (first questionnaire) were replaced with an explanatory text, "no legal sanct
High spin states in the nucleus Tc-90 have been identified for the first time via the fusion evaporation reaction (Ni(Ar,3pn)Tc)-Ni-58-Ar-36-Tc-90, at 149 MeV beam energy. The OSIRIS spectrometer with an additional high purity Ge detector at 162-degrees and several particle detectors were used to measure gammagamma and particle-gammagamma coincidences, directional correlations of oriented states (
The major aim of the study was to investigate whether differences concerning acceptance of dental treatment and amnesia after rectal sedation with midazolam can be explained by temperament traits in the child. Fifty children (1.5- 4.0 years), consecutively referred for dental extractions because of dental trauma or caries, were sedated with midazolam 0.3 mg kg(1) rectally. Level of sedation (state
Objective: To examine and compare the adult outcome in a representative sample of hospitalized adolescent-onset psychoses including occupational and social aspects. Method: A total of 81 patients with a first episode of early-onset psychosis (before age 19 years) presenting to the University Hospital of Lund, Sweden, between 1982 and 1993 were followed up an average of 10.5 years (range 5.1-18.2)
BACKGROUND: In Crohn's disease high tissue expression and serum levels of chemokines and their receptors are known to correlate with disease activity. Because statins can reduce chemokine expression in patients with coronary diseases, we wanted to test whether this can be achieved in patients with Crohn's disease. METHODOLOGY/PRINCIPAL FINDINGS: We investigated plasma levels of chemokines (CCL2, C
Hepatitis D virus (HDV) is dependent on the presence of hepatitis B virus (HBV) for transmission and replication because of its inability to produce its own coat. It remains unclear whether HDV infection increases the risk of hepatocellular carcinoma. Using the Swedish Hospital Discharge Register and Outpatient Registry, we identified 9160 patients with chronic HBV infection between 1997 and 2008,
The Swedish pulp and paper industry accounts for half of industrial final energy use in Sweden and 2.3 % in EU-27. On the basis of a disaggregated set of physical production data, a Logarithmic Mean Divisia Index decomposition method is applied to disentangle the influence from activity, structure and energy efficiency improvement (EEI) on its fuel, electricity and primary energy use. An extended
A two-step, un-coupled process producing hydrogen (H2) from wheat straw using Caldicellulosiruptor saccharolyticus in a ‘Continuously stirred tank reactor’ (CSTR) followed by anaerobic digestion of its effluent to produce methane (CH4) was investigated. C. saccharolyticus was able to convert wheat straw hydrolysate to hydrogen at maximum production rate of approximately 5.2 L H2/L/Day. The organic
This research presents the modeling of the anaerobic digestion of cane-molasses vinasse, hereby extending the Anaerobic Digestion Model No. 1 with sulfate reduction for a very high strength and sulfate rich wastewater. Based on a sensitivity analysis, four parameters of the original ADM1 and all sulfate reduction parameters were calibrated. Although some deviations were observed between model pred
Objective: The objective of the present study was to evaluate the pharmacokinetics and the clearance pathways of rFVIIa after intravenous administration to haemophilia patients. Methods: Ten severe haemophilia patients were included in the study; all patients were intravenously administered a clinical relevant dose of 90 μg/kg (1.8 nmol/kg) rFVIIa. Blood samples were collected consecutively to des
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
OBJECTIVES: Transport injuries (TI) are ranked as one of the leading causes of death, disability, and property loss worldwide. This paper provides an overview of the burden of TI in the Eastern Mediterranean Region (EMR) by age and sex from 1990 to 2015.METHODS: Transport injuries mortality in the EMR was estimated using the Global Burden of Disease mortality database, with corrections for ill-def
