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  • 1. Casar-Borota, O.
    et al.
    Jacobsson, Johan
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Libelius, Rolf
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Moslemi, A. R.
    Hedberg, C.
    Oldfors, A.
    A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres2012In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 22, no 9-10, p. 843-843Article in journal (Other academic)
  • 2. Casar-Borota, Olivera
    et al.
    Jacobsson, Johan
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Libelius, Rolf
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Hedberg Oldfors, Carola
    Malfatti, Edoardo
    Romero, Norma Beatriz
    Oldfors, Anders
    A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres2015In: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 25, no 4, p. 345-348Article in journal (Refereed)
    Abstract [en]

    Nuclear centralisation and internalisation, sarcoplasmic radiating strands and type 1 muscle fibre predominance and hypotrophy characterise dynamin-2 (DNM2) associated centronuclear myopathy, whereas necklace fibres are typically seen in late onset myotubularin-1 (MTM1)-related myopathy. We report a woman with unilateral symptoms probably related to brachial plexus neuritis. Electromyography revealed localised neuropathic and generalised myopathic abnormalities. The typical features of DNM2 centronuclear myopathy with additional necklace fibres were found in the muscle biopsy. Sequencing of the DNM2 and MTM1 genes revealed a novel heterozygous missense mutation in exon 18 of the DNM2, leading to replacement of highly conserved proline at position 647 by arginine. The muscle symptoms have not progressed during the 3-year follow-up. However, the patient has developed bilateral subtle lens opacities. Our findings support the concept that necklace fibres may occasionally be found in DNM2-related myopathy, possibly indicating a common pathogenic mechanism in DNM2 and MTM1 associated centronuclear myopathy.

  • 3.
    Linder, Jan
    et al.
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Libelius, Rolf
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Nordh, Erik
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Holmberg, Björn
    Institute of Neuroscience and Physiology/Neurology Göteborg University, Göteborg, Sweden..
    Stenlund, Hans
    Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Epidemiology and Global Health.
    Forsgren, Lars
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neuroscience.
    Anal sphincter electromyography in patients with newly diagnosed idiopathic parkinsonism2012In: Acta Neurologica Scandinavica, ISSN 0001-6314, E-ISSN 1600-0404, Vol. 126, no 4, p. 248-255Article in journal (Refereed)
    Abstract [en]

    Objectives The differential diagnosis of patients with idiopathic parkinsonism is difficult, especially early in the course of the disease. External anal sphincter electromyography has been reported to be of value in the differential diagnosis between Parkinson’s disease and multiple system atrophy. Patients with multiple system atrophy are reported to have pathological external anal sphincter electromyography and patients with Parkinson’s disease are reported to have significantly less pathological external anal sphincter electromyography results. Comparisons between patients with parkinsonian disorders have usually been made many years into the disease, and thus it is largely unknown if the results of external anal sphincter electromyography can be used to distinguish the different diagnoses in the early phase of the disease.

    Material and methods We investigated 148 newly diagnosed patients with idiopathic parkinsonism from a population-based incidence cohort (100 definite Parkinson’s disease, 21 probable Parkinson’s disease, 16 multiple system atrophy, eleven progressive supranuclear palsy, and 40 controls) with external anal sphincter electromyography within three months of their first visit and, in the majority of patients, before start of treatment with dopaminergic drugs. The clinical diagnoses were made using established clinical diagnostic criteria after a median follow-up of three years.

    Results All patient groups had more pathological external anal sphincter electromyography results than controls. No external anal sphincter electromyography differences were found between the patient groups, especially not between Parkinson’s disease and multiple system atrophy.

    Conclusions External anal sphincter electromyography examination cannot separate the different parkinsonian subgroups from each other in early course of the diseases.

  • 4. Norman, Holly
    et al.
    Zackrisson, Håkan
    Hedström, Yvette
    Andersson, Per
    Nordquist, Jenny
    Eriksson, Lars I
    Libelius, Rolf
    Umeå University, Faculty of Medicine, Department of Pharmacology and Clinical Neuroscience, Clinical Neurophysiology.
    Larsson, Lars
    Myofibrillar protein and gene expression in acute quadriplegic myopathy2009In: Journal of the Neurological Sciences, ISSN 0022-510X, E-ISSN 1878-5883, Vol. 285, no 1-2, p. 28-38Article in journal (Refereed)
    Abstract [en]

    The dramatic muscle wasting, preferential loss of myosin and impaired muscle function in intensive care unit (ICU) patients with acute quadriplegic myopathy (AQM) have traditionally been suggested to be the result of proteolysis via specific proteolytic pathways. In this study we aim to investigate the mechanisms underlying the preferential loss of thick vs. thin filament proteins and the reassembly of the sarcomere during the recovery process in muscle samples from ICU patients with AQM. Quantitative and qualitative analyses of myofibrillar protein and mRNA expression were analyzed using SDS-PAGE, confocal microscopy, histochemistry and real-time PCR. The present results demonstrate that the transcriptional regulation of myofibrillar protein synthesis plays an important role in the loss of contractile proteins, as well as the recovery of protein levels during clinical improvement, myosin in particular, presumably in concert with proteolytic pathways, but the mechanisms are specific to the different thick and thin filament proteins studied.

  • 5.
    Qamhawi, Rami
    et al.
    Umeå University, Faculty of Social Sciences, Umeå School of Business.
    Lindroos, Robin
    Umeå University, Faculty of Social Sciences, Umeå School of Business.
    Sveriges storbanker - mästare med lojalitet?: en studie om hur Sveriges fyra storbanker arbetar för att skapa lojalitet hos privatkunder2009Independent thesis Basic level (degree of Bachelor), 10 credits / 15 HE creditsStudent thesis
    Abstract [sv]

    Vi har valt att undersöka hur Sveriges fyra storbanker arbetar för att skapa lojalitet till privatkunden. Vi har utfört studien med hjälp av fyra telefonintervjuer riktat mot lämpliga representanter inom varje bank. Bankerna vi har valt att undersöka är Swedbank, SEB, Nordea samt Handelsbanken. Utifrån den datainsamling vi fått fram har vi evaluerat faktorer såsom kundnöjdhet, lojalitet och lönsamhet och deras påverkan på kundlojalitet. Tanken med arbetet har varit att ge en insikt till hur banker arbetar kring dessa faktorer samt vad som initierar dem.

    Kundlojalitet har alltid varit ett välkänt begrepp. Fast det är nu på senare år som området har belysts mer frenetiskt än tidigare av diverse väletablerade forskare. Begreppet är omdiskuterat då definitionen på lojalitet är splittrat, den har tolkats ur olika perspektiv av en rad oliksinnade forskare. Vi kommer att ge läsaren en bild av hur banker arbetar vid värvning av kunder samt när kunden är del av banken hur dem skall kvarhålla denna relation som slutligen skall leda till ett lojalitetsbaserat samarbete.

    Dem resultat vi har kommit fram till i studien kan konkluderas till att samtliga banker inser väsentligheten med att skapa en lojalitetsbaserad relation till privatkunden. Samtliga banker arbetar med att stärka och utveckla dem befintliga kundrelationerna. Deras strävan till att ständigt attrahera nya kunder med mål att initiera en relation, relationen skall över tiden bli ett långsiktigt samarbete där både banken och privatkunden får utbyte av varandra. Samtliga banker trycker på att kundlojalitet inte är ett kortsiktigt förfarande utan snarare en process som långsiktigt evalueras utifrån kundens tillfredställelse gällande bankens utvecklande av erbjudanden och tjänster.

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