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- Bevilacqua, Jorge A, et al.
(författare)
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"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
- 2009
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Ingår i: Acta neuropathologica. - : Springer Science and Business Media LLC. - 1432-0533 .- 0001-6322. ; 117:3, s. 283-91
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Tidskriftsartikel (refereegranskat)abstract
- Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been recognized as the underlying cause of "atypical" forms of XLMTM in newborn boys, female infants, female manifesting carriers and adult men. We reviewed systematically the biopsies of a cohort of patients with an unclassified form of centronuclear myopathy (CNM) and identified four patients presenting a peculiar histological alteration in some muscle fibers that resembled a necklace ("necklace fibers"). We analyzed further the clinical and morphological features and performed a screening of the genes involved in CNM. Muscle biopsies in all four patients demonstrated 4-20% of fibers with internalized nuclei aligned in a basophilic ring (necklace) at 3 microm beneath the sarcolemma. Ultrastructurally, such necklaces consisted of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. In the four patients (three women and one man), myopathy developed in early childhood but was slowly progressive. All had mutations in the MTM1 gene. Two mutations have previously been reported (p.E404K and p.R241Q), while two are novel; a c.205_206delinsAACT frameshift change in exon 4 and a c.1234A>G mutation in exon 11 leading to an abnormal splicing and the deletion of nine amino acids in the catalytic domain of MTM1. Necklace fibers were seen neither in DNM2- or BIN1-related CNM nor in males with classical XLMTM. The presence of necklace fibers is useful as a marker to direct genetic analysis to MTM1 in CNM.
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- Jégou, F., et al.
(författare)
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Validation of Odin/SMR limb observations of ozone, comparisons with OSIRIS, POAM III, ground-based and balloon-borne intruments
- 2008
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8:13, s. 3385-3409
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Tidskriftsartikel (refereegranskat)abstract
- The Odin satellite carries two instruments capable of determining stratospheric ozone profiles by limb sounding: the Sub-Millimetre Radiometer (SMR) and the UV-visible spectrograph of the OSIRIS (Optical Spectrograph and InfraRed Imager System) instrument. A large number of ozone profiles measurements were performed during six years from November 2001 to present. This ozone dataset is here used to make quantitative comparisons with satellite measurements in order to assess the quality of the Odin/SMR ozone measurements. In a first step, we compare Swedish SMR retrievals version 2.1, French SMR ozone retrievals version 222 (both from the 501.8 GHz band), and the OSIRIS retrievals version 3.0, with the operational version 4.0 ozone product from POAM III (Polar Ozone Atmospheric Measurement). In a second step, we refine the Odin/SMR validation by comparisons with ground-based instruments and balloon-borne observations. We use observations carried out within the framework of the Network for Detection of Atmospheric Composition Change (NDACC) and balloon flight missions conducted by the Canadian Space Agency (CSA), the Laboratoire de Physique et de Chimie de l\'{}Environnement (LPCE, Orléans, France), and the Service d'Aéronomie (SA, Paris, France). Coincidence criteria were 5° in latitude×10° in longitude, and 5 h in time in Odin/POAM III comparisons, 12 h in Odin/NDACC comparisons, and 72 h in Odin/balloons comparisons. An agreement is found with the POAM III experiment (10–60 km) within −0.3±0.2 ppmv (bias±standard deviation) for SMR (v222, v2.1) and within −0.5±0.2 ppmv for OSIRIS (v3.0). Odin ozone mixing ratio products are systematically slightly lower than the POAM III data and show an ozone maximum lower by 1–5 km in altitude. The comparisons with the NDACC data (10–34 km for ozonesonde, 10–50 km for lidar, 10–60 for microwave instruments) yield a good agreement within −0.15±0.3 ppmv for the SMR data and −0.3±0.3 ppmv for the OSIRIS data. Finally the comparisons with instruments on large balloons (10–31 km) show a good agreement, within −0.7±1 ppmv. The official SMR v2.1 dataset is consistent in all altitude ranges with POAM III, NDACC and large balloon-borne instruments measurements. In the SMR v2.1 data, no different systematic error has been found in the 0–35km range in comparison with the 35–60 km range. The same feature has been highlighted in both hemispheres in SMR v2.1/POAM III intercomparisons, and no latitudinal dependence has been revealed in SMR v2.1/NDACC intercomparisons.
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