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Sökning: L773:0960 8966

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121.
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122.
  • Pater, Ronne, et al. (författare)
  • 267th ENMC International Workshop: Psychological Interventions for Improving Quality of Life in Slowly Progressive Neuromuscular Disorders. Hoofddorp, The Netherlands, 20-22 May 2022.
  • 2023
  • Ingår i: Neuromuscular Disorders. - : Elsevier. - 0960-8966.
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • This workshop aimed to develop recommendations for psychological interventions to support people living with slowly progressive neuromuscular disorders (NMD). The workshop comprised clinicians, researchers, people living with NMD and their relatives. First, participants considered the key psychological challenges presented by NMD and the impact of NMD on relationships and mental health. Later, several psychological approaches for enhancing well-being in NMD were described. The results of randomised controlled trials of Cognitive Behaviour Therapy and Acceptance and Commitment Therapy for improving fatigue, quality of life, and mood in adults with NMD were examined. Then the group considered ways to adapt therapies for cognitive impairments or neurodevelopmental differences that occur in some NMD, alongside ways to support children and adolescents with NMD and their family members. Based on the evidence from randomised controlled trials, carefully conducted observational studies, and the coherence of these data with the experience of those living with NMD, the group recommends that psychological interventions should be embedded in the routine clinical care offered to people living with NMD.
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123.
  • Penttilä, S., et al. (författare)
  • Late-onset spinal motor neuronopathy - A common form of dominant SMA
  • 2014
  • Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 24:3, s. 259-268
  • Tidskriftsartikel (refereegranskat)abstract
    • We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2-q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8. Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. © 2013 Elsevier B.V.
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124.
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125.
  • Périé, Sophie, et al. (författare)
  • Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy : Therapeutic perspectives of autologous myoblast transplantation.
  • 2006
  • Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 16:11, s. 770-81
  • Tidskriftsartikel (refereegranskat)abstract
    • Cultures of myoblasts isolated from cricopharyngeal muscles from patients with oculopharyngeal muscular dystrophy (OPMD) have been performed to study the effect of the expanded (GCG)8-13 repeat, located on the poly(A) binding protein nuclear-1 (PABPN1), on satellite cell phenotype. Cell cultures exhibited a reduced myogenicity, as well as a rapid decrease in proliferative lifespan, as compared to controls. The incorporation of BrdU decreased during the proliferative lifespan, due to a progressive accumulation of non-dividing cells. A lower fusion index was also observed, but myoblasts were able to form large myotubes when OPMD cultures were purified, although a rapid loss of myogenicity during successive passages was also observed. Myoblasts isolated from unaffected muscles did not show the defects observed in cricopharyngeal muscle cultures. The PABPN1 was predominantly located in nuclei of myoblasts and in both the nuclei and cytoplasm of myotubes in OPMD cultures. In vivo analysis of OPMD muscles showed that the number of satellite cells was slightly higher than that observed in age matched controls. Mutation of the PABPN1 in OPMD provokes premature senescence in dividing myoblasts, that may be due to intranuclear toxic aggregates. These results suggest that myoblast autografts, isolated from unaffected muscles, and injected into the dystrophic pharyngeal muscles, may be a useful therapeutic strategy to restore muscular function. Its tolerance and feasibility has been preclinically demonstrated in the dog.
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126.
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127.
  • Riazi, Sheila, et al. (författare)
  • Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH)
  • 2022
  • Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966. ; 32:8, s. 628-634
  • Tidskriftsartikel (refereegranskat)abstract
    • Malignant hyperthermia (MH) is a life-threatening reaction triggered by volatile anesthetics and succinylcholine. MH is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene, as is rhabdomyolysis triggered by exertion and/or pyrexia. The discrepancy between the prevalence of risk genotypes and actual MH incidence remains unexplained. We investigated the role of pre-operative exercise and pyrexia as potential MH modifying factors. We included cases from 5 MH referral centers with 1) clinical features suggestive of MH, 2) confirmation of MH susceptibility on Contracture Testing (IVCT or CHCT) and/or RYR1 genetic testing, and a history of 3) strenuous exercise within 72 h and/or pyrexia >37.5 °C prior to the triggering anesthetic. Characteristics of MH-triggering agents, surgery and succinylcholine use were collected. We identified 41 cases with general anesthesias resulting in an MH event (GA+MH, n = 41) within 72 h of strenuous exercise and/or pyrexia. We also identified previous general anesthesias without MH events (GA-MH, n = 51) in the index cases and their MH susceptible relatives. Apart from pre-operative exercise and/or pyrexia, trauma and acute abdomen as surgery indications, emergency surgery and succinylcholine use were also more common with GA+MH events. These observations suggest a link between pre-operative exercise, pyrexia and MH.
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128.
  • Rohdin, Cecilia (författare)
  • Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D
  • 2021
  • Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 31, s. 56-68
  • Tidskriftsartikel (refereegranskat)abstract
    • Mutations in the N-myc downstream-regulated gene 1 (NDRG1) cause degenerative polyneuropathy in ways that are poorly understood. We have investigated Alaskan Malamute dogs with neuropathy caused by a missense mutation in NDRG1. In affected animals, nerve levels of NDRG1 protein were reduced by more than 70% (p < 0.03). Nerve fibers were thinly myelinated, loss of large myelinated fibers was pronounced and teased fiber preparations showed both demyelination and remyelination. Inclusions of filamentous material containing actin were present in adaxonal Schwann cell cytoplasm and Schmidt-Lanterman clefts. This condition strongly resembles the human Charcot-MarieTooth type 4D. However, the focally folded myelin with adaxonal infoldings segregating the axon found in this study are ultrastructural changes not described in the human disease. Furthermore, lipidomic analysis revealed a profound loss of peripheral nerve lipids. Our data suggest that the low levels of mutant NDRG1 is insufficient to support Schwann cells in maintaining myelin homeostasis. (C) 2020 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license.
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129.
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130.
  • Roos, Sara, 1979, et al. (författare)
  • Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations
  • 2014
  • Ingår i: Neuromuscular Disorders. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 24:8, s. 713-720
  • Tidskriftsartikel (refereegranskat)abstract
    • The mitochondrial DNA (mtDNA) depletion syndrome is a genetically heterogeneous group of diseases caused by nuclear gene mutations and secondary reduction in mtDNA copy number. We describe a patient with progressive muscle weakness and increased creatine kinase and lactate levels. Muscle weakness was first noted at age 1.5 years and he died of respiratory failure and bronchopneumonia at age 3.5 years. The muscle biopsy showed dystrophic features with ragged red fibers and numerous cytochrome c oxidase (COX)-negative fibers. qPCR analysis demonstrated depletion of mtDNA and sequence analysis of the mitochondrial thymidine kinase 2 (TK2) gene revealed two novel heterozygous variants, c.332C > T, p.(T111I) and c.156 + 5G > C. Quantitative analysis of mtDNA in single muscle fibers demonstrated that COX-deficient fibers showed more pronounced depletion of mtDNA when compared with fibers with residual COX activity (P < 0.01, n = 25). There was no evidence of manifestations from other organs than skeletal muscle although there was an apparent reduction of mtDNA copy number also in liver. The patient showed a pronounced, albeit transient, improvement in muscle strength after onset of treatment with coenzyme Q10, asparaginase, and increased energy intake, suggesting that nutritional modulation may be a therapeutic option in myopathic mtDNA depletion syndrome. (C) 2014 Elsevier B.V. All rights reserved.
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