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Nutrition: Calcium

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Total 268 results found since Jan 2013.

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation
This study shows for the first time that functional characterization of omega pore currents is possible using a cultured cell line expressing mutant Cav1.1 channels. Likewise, it is the first calcium channel mutation for complicated normokalaemic periodic paralysis.
Source: Brain - December 11, 2013 Category: Neurology Authors: Fan, C., Lehmann-Horn, F., Weber, M.-A., Bednarz, M., Groome, J. R., Jonsson, M. K. B., Jurkat-Rott, K. Tags: Original Articles Source Type: research

Saturated fat link with heart disease questioned
This article is one doctor's opinion based on his own knowledge, research and experience. However, it is fair to say there is an ongoing debate about how far cholesterol is a risk factor for heart disease, especially in people who are otherwise healthy. There is also a similar debate about the use of statins in people who have no evidence of cardiovascular disease. This is alongside ongoing research into the components of LDL and the different types of lipoproteins known to increase risk the most. None of this relevant new evidence is covered by the news reporting.   What should you eat? There is no need to change curren...
Source: NHS News Feed - October 23, 2013 Category: Consumer Health News Tags: Heart/lungs Food/diet QA articles Source Type: news

Vitamin D: role and opportunity to prescribe.
Abstract The major role of vitamin D in humans is to increase the absorption of calcium and phosphatase for the mineralization of the skeleton. The synthesis of vitamin D3 in the skin under influence of UV light decreases with aging due to insufficient sunlight exposure, and a decreased functional capacity of the skin. Deficiency in vitamin D causes secondary hyperparathyroidism, high bone turnover, bone loss, mineralization defects, proximal myopathy, falls and hip and other fractures. The goal of therapy of hypovitaminosis D is to restore normal serum and deposits of 25 (OH) D. The daily supplementation of vitam...
Source: Aging Clinical and Experimental Research - September 18, 2013 Category: Geriatrics Authors: Resmini G, Tarantino U, Iolascon G Tags: Aging Clin Exp Res Source Type: research

The HDAC Inhibitor TSA Ameliorates a Zebrafish Model of Duchenne Muscular Dystrophy
Discussion Our results identify a dmd morpholino cocktail that induces a high penetrance of muscle lesions and strongly resembles the zebrafish dmd mutant phenotype. We also show that the HDAC inhibitor TSA rescues both dmd-MO and dmd mutant muscle lesions. By comparing different approaches to scoring muscle lesions, our study confirms a previous report 13 that simple assessment of the muscle birefringence pattern in whole larvae, using a stereomicroscope, is a reliable approach to scoring the dmd-MO or dmd mutant phenotype following chemical treatment. Thus, our work identifies optimal morpholino and phenotypic scoring ap...
Source: PLOS Currents Muscular Dystrophy - September 17, 2013 Category: Neurology Authors: njohnso8 Source Type: research

P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1
This woman, now 33years old, was first investigated at age 14 and previously described as a case report of tubular aggregate myopathy (Tulinius MH, Lundberg A, Oldfors A. Early-onset myopathy with tubular aggregates. Pediatric Neurol 1996;15:68–71). There was no family history of neuromuscular disease. Early motor milestones were normal. She never learned to run and at four years the parents noted she had a wide-based gait. At 12years she lost the ability to rise from the squatting position without using her hands. The muscle weakness was slowly progressive over the years and she now presents with moderate proximal muscl...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: A. Oldfors, C. Hedberg, B. Lindvall, M. Tulinius Source Type: research

P.12.2 Dominant distal myopathy due to slow channelopathy
We examined 3 biopsies in 3 patients (2 males – 55years and 66years, 1 female – 61years) presenting a dominant distal myopathy with variable age at onset (from second to third decade). The patients had ophtalmoparesis, upper limb extensor, forearm and finger weakness and distal myopathy with a progressive slow course.The woman had also some difficulty in anterior tibial flexor muscle but also atrophy of forearms muscles. Electrophysiology on single stimulus of ulnar nerve showed repetitive CMAP.The genomic wide linkage analysis identified 3 regions co-segregating with the disease in chromosome 1, 13, 17. Next generatio...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: C. Angelini, G. Vazza, M.L. Mostacciuolo Source Type: research

P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
In conclusion, we have characterized the first nebulin-based NM model, which recapitulates important features of the phenotype observed in patients harboring this particular mutation, and which has severe muscle weakness caused by thin filament dysfunction.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: C.A.C. Ottenheijm, D. Buck, J. de Winter, C. Ferrara, N. Piroddi, C. Tesi, R. Jasper, F. Malik, F. Meng, G. Stienen, A.H. Beggs, S. Labeit, C. Poggesi, M. Lawlor, H. Granzier Source Type: research

P.4.10 Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
This study is the first demonstration of the potential of exon skipping for the therapy of Central Core Disease, from the molecular to the functional level.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: J. Rendu, J. Brocard, N. Monnier, F. Piétri-Rouxel, L. Garcia, J. Lunardi, J. Fauré, A. Fourest-Lieuvin, I. Marty Source Type: research

P.4.12 Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect?
Central core disease (CCD) is a congenital myopathy, characterized by the presence of central core-like areas in muscle fibers. Patients usually have mild or moderate axial and proximal weakness, hypotonia and motor developmental delay. CCD is associated with mutations in human RYR1 gene, which encodes a calcium release channel known as ryanodine receptor (RyR1). Here we present a family diagnosed with CCD with distinct phenotypes. A 48-year old female was referred to our service with clinical features suggesting a congenital myopathy. Histological analysis confirmed the diagnosis of CCD. Nine exons from the C-terminal reg...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: T. Cuperman, S. Alcântara, M. Canovas, L.U. Yamamoto, R.C. Pavanello, M. Zatz, A.S. Oliveira, M. Vainzof Source Type: research

P.4.13 Central core disease (CCD): Improving the screening for mutations in RYR1 gene
Central core disease (CCD) is a congenital myopathy, characterized by the presence of central core-like areas in muscle fibers. Patients with RYR-related CCD usually have mild or moderate axial and proximal weakness, hypotonia and motor developmental delay. CCD is associated with susceptibility to malignant hyperthermia (MH), and both conditions have been linked to mutations in human RYR1 gene, which encodes a calcium release channel known as ryanodine receptor (RyR1). RYR1 mutational spectrum linked with CCD includes more than 200 described mutations mostly heterozygous dominant missense mutations and minor deletions or d...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: T. Cuperman, S. Alcântara, N.C.V. Lourenço, L.U. Yamamoto, R.C. Pavanello, H.C. Silva, J. Gurgel-Gianetti, M. Zatz, A.S. Oliveira, M. Vainzof Source Type: research

P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1
This woman, now 33years old, was first investigated at age 14 and previously described as a case report of tubular aggregate myopathy (Tulinius MH, Lundberg A, Oldfors A. Early-onset myopathy with tubular aggregates. Pediatric Neurol 1996;15:68–71). There was no family history of neuromuscular disease. Early motor milestones were normal. She never learned to run and at four years the parents noted she had a wide-based gait. At 12years she lost the ability to rise from the squatting position without using her hands. The muscle weakness was slowly progressive over the years and she now presents with moderate proximal muscl...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Oldfors, C. Hedberg, B. Lindvall, M. Tulinius Source Type: research

P.12.2 Dominant distal myopathy due to slow channelopathy
We examined 3 biopsies in 3 patients (2 males – 55years and 66years, 1 female – 61years) presenting a dominant distal myopathy with variable age at onset (from second to third decade). The patients had ophtalmoparesis, upper limb extensor, forearm and finger weakness and distal myopathy with a progressive slow course.The woman had also some difficulty in anterior tibial flexor muscle but also atrophy of forearms muscles. Electrophysiology on single stimulus of ulnar nerve showed repetitive CMAP.The genomic wide linkage analysis identified 3 regions co-segregating with the disease in chromosome 1, 13, 17. Next generatio...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: C. Angelini, G. Vazza, M.L. Mostacciuolo Source Type: research

P.9.10 Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy
In conclusion, we have characterized the first nebulin-based NM model, which recapitulates important features of the phenotype observed in patients harboring this particular mutation, and which has severe muscle weakness caused by thin filament dysfunction.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: C.A.C. Ottenheijm, D. Buck, J. de Winter, C. Ferrara, N. Piroddi, C. Tesi, R. Jasper, F. Malik, F. Meng, G. Stienen, A.H. Beggs, S. Labeit, C. Poggesi, M. Lawlor, H. Granzier Source Type: research

P.4.10 Exon skipping as a therapeutic strategy applied to a RyR1 mutation causing severe core myopathy
This study is the first demonstration of the potential of exon skipping for the therapy of Central Core Disease, from the molecular to the functional level.
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: J. Rendu, J. Brocard, N. Monnier, F. Piétri-Rouxel, L. Garcia, J. Lunardi, J. Fauré, A. Fourest-Lieuvin, I. Marty Source Type: research

P.4.12 Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect?
Central core disease (CCD) is a congenital myopathy, characterized by the presence of central core-like areas in muscle fibers. Patients usually have mild or moderate axial and proximal weakness, hypotonia and motor developmental delay. CCD is associated with mutations in human RYR1 gene, which encodes a calcium release channel known as ryanodine receptor (RyR1). Here we present a family diagnosed with CCD with distinct phenotypes. A 48-year old female was referred to our service with clinical features suggesting a congenital myopathy. Histological analysis confirmed the diagnosis of CCD. Nine exons from the C-terminal reg...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: T. Cuperman, S. Alcântara, M. Canovas, L.U. Yamamoto, R.C. Pavanello, M. Zatz, A.S. Oliveira, M. Vainzof Source Type: research