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| 2. |
- Guergueltcheva, V., et al.
(författare)
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Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
- 2012
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Ingår i: Journal of Neurology. - : Springer Science and Business Media LLC. - 0340-5354 .- 1432-1459. ; 259:5, s. 838-850
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Tidskriftsartikel (refereegranskat)abstract
- Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. A difficult to diagnose subgroup of CMS is characterised by proximal muscle weakness and fatigue while ocular and facial involvement is only minimal. DOK7 mutations have been identified as causing the disorder in about half of the cases. More recently, using classical positional cloning, we have identified mutations in a previously unrecognised CMS gene, GFPT1, in a series of DOK7-negative cases. However, detailed description of clinical features of GFPT1 patients has not been reported yet. Here we describe the clinical picture of 24 limb-girdle CMS (LG-CMS) patients and pathological findings of 18 of them, all carrying GFPT1 mutations. Additional patients with CMS, but without tubular aggregates, and patients with non-fatigable weakness with tubular aggregates were also screened. In most patients with GFPT1 mutations, onset of the disease occurs in the first decade of life with characteristic limb-girdle weakness and fatigue. A common feature was beneficial and sustained response to acetylcholinesterase inhibitor treatment. Most of the patients who had a muscle biopsy showed tubular aggregates in myofibers. Analysis of endplate morphology in one of the patients revealed unspecific abnormalities. Our study delineates the phenotype of CMS associated with GFPT1 mutations and expands the understanding of neuromuscular junction disorders. As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we suggest calling this condition congenital myasthenic syndrome with tubular aggregates (CMS-TA).
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| 4. |
- Senderek, J, et al.
(författare)
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Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
- 2011
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Ingår i: American journal of human genetics. - 0002-9297. ; 88:2, s. 162-172
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Tidskriftsartikel (refereegranskat)abstract
- Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromusculartransmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in 13 unrelated families with an autosomal recessive CMS. Consistent with these data, downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development. GFPT1 is the key enzyme of the hexosaminepathway yielding the amino sugar UDP-N-acetylglucosamine, an essential substrate for protein glycosylation. Our findings provide further impetus to study the glycobiology of NMJ and synapses in general.
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| 6. |
- Severo, J. H. F., et al.
(författare)
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Error analysis in the electron temperature measurements in TCABR
- 2012
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Ingår i: Journal of Physics, Conference Series. - : IOP Publishing. - 1742-6588 .- 1742-6596. ; 370:1, s. 012045-
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Tidskriftsartikel (refereegranskat)abstract
- An analytical method is proposed to evaluate the experimental uncertainty in the electron temperature measurements in the TCABR tokamak. Solving the integral equation resulting from the convolution of two functions, one representing, the scattered light and the other the spectral apparatus function, i.e., the polychromator, an analytical expression for the electron temperature is obtained, from which the uncertainty in the measured value is readily evaluated. The results show that the major contribution to the error comes from the noise in the signal; the uncertainties in the filters parameters do not contribute significantly to the total error.
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| 7. |
- Yamamoto, T., et al.
(författare)
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Changes in circulating biomarkers during a single hemodialysis session
- 2013
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Ingår i: Hemodialysis International. - : Wiley. - 1492-7535 .- 1542-4758. ; 17:1, s. 59-66
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Tidskriftsartikel (refereegranskat)abstract
- The hemodialysis (HD) procedure induces an inflammatory response potentially contributing to cardiovascular disease. Here we investigated the acute impact of HD on circulating biomarkers. Circulating biomarkers (small solutes, middle molecular-sized peptides, and proteins) related to inflammation, oxidative stress, and vascular calcification (VC) were measured before and after a single session of HD in 45 clinically stable patients. Concentrations were corrected for ultrafiltration-induced hemoconcentration. Among vascular calcification-related biomarkers, osteoprotegerin and fetuin-A remained unchanged while fibroblast growth factor-23 (FGF23) decreased by -19%. Changes of FGF23 and changes of phosphate correlated (ρ=0.61, P<0.001). While C-reactive protein did not change, interleukin-6 (IL-6) increased by 14% and pentraxin 3 (PTX3) increased by 45%. IL-6 and PTX3 appear to be valid biomarkers of the intradialytic inflammatory response. VC-related markers were in general not affected by the single HD session; however, the observed correlation between acute changes of FGF-23 and phosphate during HD warrants further studies.
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| 8. |
- Andrade, Carlos A. P., et al.
(författare)
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Allometric Growth in Red Porgy Larvae : Developing Morphological Indices for Mesocosm Semi-Intensive Culture
- 2013
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Ingår i: North American Journal of Aquaculture. - : Wiley. - 1522-2055 .- 1548-8454. ; 75:1, s. 42-49
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Tidskriftsartikel (refereegranskat)abstract
- We studied the morphological development, allometric growth, and cannibalistic behavior of Red Porgy Pagrus pagrus reared in mesocosm semi-intensive culture. The study was conducted from hatching to 32 d after hatching (DAH). Red porgy ontogeny was characterized by strong positive allometric growth of body depth at anus (BDA) to 6.7mm total length (TL) at about 2122 DAH. The BDA combined with standard length (SL) in a morphometric index was found to be better correlated with dry weight than TL and provided an improved method to estimate larval growth. Mouth size also exhibited strong positive allometric growth at early larval stages that, together with inflation of the swim bladder, may have contributed to improve feeding ability, in preparation for the high energy demands of metamorphosis. A predictive regression model developed for cannibalism underestimated prey size. Cannibalism coincided with the development of acidic digestion and was first evident at 27 DAH as larvae reached about 23% of their maximum size variation. We hypothesize that cannibalism is associated with larval size and condition, but is prompted by physiological and energetic factors. The bivariate morphometric index developed in this study can be used to mitigate cannibalism by controlling larval size variation and improving feed supply. The morphological measurements and morphometric indices that result from this study provide important tools for improving red porgy larvae culture. Received December 13, 2011; accepted July 12, 2012
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| 9. |
- Andrade, Carlos A. P., et al.
(författare)
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Red Porgy, Pagrus pagrus, Larvae Performance and Nutritional Condition in Response to Different Weaning Regimes
- 2012
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Ingår i: Journal of the World Aquaculture Society. - : Wiley. - 0893-8849 .- 1749-7345. ; 43:3, s. 321-334
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Tidskriftsartikel (refereegranskat)abstract
- Red porgy, Pagrus pagrus, is a candidate species for aquaculture diversification. The aim of this work was to assess whether an early supply of enriched Artemia (D1) or a direct step to dry diets (D3) would be advantageous weaning strategies for red porgy larvae, compared to a later supply of Artemia followed by dry diets (D2). Direct weaning to dry diet resulted in significantly lower growth, survival, pancreatic (trypsin and lipase), and intestinal (alkaline phosphatase) enzyme-specific activity, with the exception of leucine-alanine peptidase. The direct weaning strategy presented severe nutritional restrictions from early weaning stages with an associated delay of the maturation of digestive system. The two-step strategy presented in D1 and D2 resulted in comparable results in most parameters, including survival. Weaning using enriched Artemia as an intermediate step is confirmed as the most adequate strategy for red porgy larvae. Digestive enzymes and selected fatty acids correlated well with performance responses to dietary regimes, thereby supporting the use of these parameters as sensitive and reliable indicators of red porgy nutritional or physiological status during larval stages.
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| 10. |
- Bonaglia, Stefano, et al.
(författare)
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Meiofauna increases bacterial denitrification in marine sediments
- 2014
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 5, s. 5133-
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Tidskriftsartikel (refereegranskat)abstract
- Denitrification is a critical process that can alleviate the effects of excessive nitrogen availability in aquatic ecosystems subject to eutrophication. An important part of denitrification occurs in benthic systems where bioturbation by meiofauna (invertebrates <1mm) and its effect on element cycling are still not well understood. Here we study the quantitative impact of meiofauna populations of different abundance and diversity, in the presence and absence of macrofauna, on nitrate reduction, carbon mineralization and methane fluxes. In sediments with abundant and diverse meiofauna, denitrification is double that in sediments with low meiofauna, suggesting that meiofauna bioturbation has a stimulating effect on nitrifying and denitrifying bacteria. However, high meiofauna densities in the presence of bivalves do not stimulate denitrification, while dissimilatory nitrate reduction to ammonium rate and methane efflux are significantly enhanced. We demonstrate that the ecological interactions between meio-, macrofauna and bacteria are important in regulating nitrogen cycling in soft-sediment ecosystems.
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