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- Cuisset, J. M., et al.
(författare)
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'Cap myopathy' : case report of a family
- 2006
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Ingår i: Neuromuscular Disorders. - : Institute of Information Science. - 0960-8966 .- 1873-2364. ; 16:4, s. 277-281
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Tidskriftsartikel (refereegranskat)abstract
- We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis.
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| 2. |
- Bourgoin, M., et al.
(författare)
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Investigation of the small-scale statistics of turbulence in the Modane S1MA wind tunnel
- 2018
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Ingår i: CEAS Aeronautical Journal. - : Springer. - 1869-5582 .- 1869-5590. ; 9:2, s. 269-281
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Tidskriftsartikel (refereegranskat)abstract
- This article describes the planning, set-up, turbulence characterization and analysis of measurements of a passive grid turbulence experiment that was carried out in the S1MA wind-tunnel from ONERA in Modane, in the context of the ESWIRP European project. This experiment aims at a detailed investigation of the statistical properties of turbulent flows at large Reynolds numbers. The primary goal is to take advantage of the unequaled large-scale dimensions of the ONERA S1MA wind-tunnel facility, to make available to the broad turbulence community high-quality experimental turbulence data with unprecendented resolution (both spatial and temporal) and accuracy (in terms of statistical convergence). With this goal, we designed the largest grid-generated turbulence experiment planned and performed to date. Grid turbulence is a canonical flow known to produce almost perfectly homogeneous and isotropic turbulence (HIT) which remains a unique framework to investigate fundamental physics of turbulent flows. Here, we present a brief description of the measurements, in particular those based on hot-wire diagnosis. By comparing results from classical hot-wires and from a nano-fabricated wire (developed at Princeton University), we show that our goal of resolving down to the smallest dissipative scales of the flow has been achieved. We also present the full characterization of the turbulence here, in terms of turbulent energy dissipation rate, injection and dissipation scales (both spatial and temporal) and Reynolds number.
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| 5. |
- Nicole, Sophie, et al.
(författare)
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Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
- 2014
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 137:P9, s. 2429-2443
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Tidskriftsartikel (refereegranskat)abstract
- Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly homogenous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy reminiscent of a distal myopathy. MRI and neurophysiological studies were compatible with mild myopathy restricted to distal limb muscles, but decrement (up to 72%) in response to 3Hz repetitive nerve stimulation pointed towards a neuromuscular transmission defect. Post-exercise increment (up to 285%) was observed in the distal limb muscles in all cases suggesting presynaptic congenital myasthenic syndrome. Immunofluorescence and ultrastructural analyses of muscle end-plate regions showed synaptic remodelling with denervation-reinnervation events. We performed whole-exome sequencing in two kinships and Sanger sequencing in one isolated case and identified five new recessive mutations in the gene encoding agrin. This synaptic proteoglycan with critical function at the neuromuscular junction was previously found mutated in more typical forms of congenital myasthenic syndrome. In our patients, we found two missense mutations residing in the N-terminal agrin domain, which reduced acetylcholine receptors clustering activity of agrin in vitro. Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an unexpected correlation between the mutated gene and the associated phenotype. This provides a good rationale for examining patients with apparent distal myopathy for a neuromuscular transmission disorder and agrin mutations.
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