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Hereditary retinal degenerations encompass a group of genetic diseases characterized by extreme clinical variability. Following next-generation sequencing and autozygome-based screening of patients presenting with a peculiar, recessive form of cone-dominated retinopathy, we identified five homozygous variants [p.(Asp594fs), p.(Gln117*), p.(Met712fs), p.(Ile756Phe), and p.(Glu543Lys)] in the polygl
This study deals with the diffusion of a new medical technology — vaccination against smallpox — in nineteenth-century Scania in Sweden. Using an aggregated sample of parishes as well as a micro-level dataset for four parishes, we investigate the socioeconomic as well as the geographical patterns of diffusion of vaccination in the province. We also relate the adoption of vaccination across geograp
Objective: To assess the quality of antibiotic prescribing in primary care in Belgium, the Netherlands and Sweden using European disease-specific antibiotic prescribing quality indicators (APQI) and taking into account the threshold to consult and national guidelines. Design: A retrospective observational database study. Setting: Routine primary health care registration networks in Belgium, the Ne
Vissa ungdomar som upplevt potentiellt traumatiserande händelser kan utveckla dissociationssymptom. Under gynnsamma förhållanden har människor en förmåga att integrera känslor, tankar, sinnesintryck och minnen av livshändelser in i en adaptiv och sammanhängande självbild och berättelse om självet. Dissociation i samband med trauma kan beskrivas som ett sammanbrott av denna förmåga. Dissociativa upAfter experiencing potentially traumatic events (PTEs) some adolescents develop pathological dissociation. Trauma-related dissociation can be described as a break-down of the individual’s capacity to integrate emotions, thoughts, sensations, and memories about traumatic or other events into an adaptive and coherent self-image and self-narrative. Dissociative experiences (DE) include experienced lo
Objective: Heart rate turbulence (HRT) has been successfully explored for cardiac risk stratification. While HRT is known to be influenced by the heart rate (HR) and the coupling interval (CI), nonconcordant results have been reported on how the CI influences HRT. The purpose of this study is to investigate HRT changes in terms of CI and HR by means of an especially designed protocol. Methods: A d
Background and Purpose - A patent foramen ovale (PFO) is disproportionately prevalent in patients with cryptogenic stroke. Without alternative explanations, it is frequently considered to be causative. A detailed stratification of these patients may improve the identification of incidental PFO. Methods - We investigated the PFO prevalence in 3497 transient ischemic attack and ischemic stroke patie
This paper presents an advanced signal processing schemefor time-domain induced polarization full waveform data.The scheme includes several steps with an improvedinduced polarization (IP) response gating design usingconvolution with tapered windows to suppress highfrequency noise, a logarithmic gate width distribution foroptimizing IP data quality and an estimate of gatinguncertainty. Additional s
Saccharomyces cerevisiae, the conventional baker's yeast, remains the most domesticated yeast monopolizing the baking industry. Its rapid consumption of sugars and production of CO2 are the most important attributes required to leaven the dough. New research attempts highlight that these attributes are not unique to S. cerevisiae, but also found in several non-conventional yeast species. A small n
Since potential changes in the dynamics and mobility of drugs upon complexation for delivery may affect their ultimate efficacy, we have investigated the dynamics of two local anesthetic molecules, bupivacaine (BVC, C18H28N2O) and ropivacaine (RVC, C17H26N2O), in both their crystalline forms and complexed with water-soluble oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HP-β-CD). The study was ca
Objectives Belimumab is the first biologic drug approved for Systemic Lupus Erythematosus (SLE). Here, we aimed to investigate the effects of belimumab on clinical and serologic outcomes, and sought to identify predictors of treatment response in three Swedish real-life settings. Methods Fifty-eight patients were enrolled at initiation of belimumab and followed longitudinally for up to 53 months.
BACKGROUND: Continuous epidural infusions of local anaesthetics have become increasingly popular in postoperative pain treatment, especially as they permit early mobilisation. Ropivacaine is a promising new agent which induces more pronounced sensory than motor blockade. This study was focused on the influence of continuous epidural infusion of ropivacaine on impulse conduction in large nerves (by
Objective to describe first-time fathers experiences of their prenatal preparation in relation to challenges met in the early parenthood period. Design a qualitative study was conducted and data was analysed with a phenomenographical approach. Setting and participants 15 first-time fathers were recruited from three postnatal units in southern Sweden and interviewed approximately one month after th
1. We estimated the correlation between host phylogeographical structure and beta diversity of avian haemosporidian assemblages of passerine birds to determine the degree to which parasite communities change with host evolution, expressed as genetic divergence between island populations, and we investigated whether differences among islands in the haemosporidia of a particular host species reflect
The progress of developing effective interventions against psychiatric disorders has been limited due to a lack of understanding of the underlying cellular and functional mechanisms. Recent research findings focused on exploring novel causes of psychiatric disorders have highlighted the importance of the axonal initial segment (AIS), a highly specialized neuronal structure critical for spike initi
Multiple beds in the Frankfort Shale (Upper Ordovician, New York State), including the original "Beecher's Trilobite Bed," yield fossils with pyritized soft-tissues. A bed-by-bed geochemical and sedimentological analysis was carried out to test previous models of soft-tissue pyritization by investigating environmental, depositional and diagenetic conditions in beds with and without soft-tissue pre
High-frequency stimulation of the subthalamic nucleus is believed to exert its main effects via the basal ganglia output structures. Previously, we have shown a concomitant increase in striatal dopamine (DA) metabolites in normal and 6-hydroxydopamine-lesioned rats. The present study was designed to determine whether this increase in striatal DA metabolites reflects enhanced intraneuronal DA turno
