1,721,274 research outputs found
Critical review of the chapter ‘Metabolic Myopathies’, Vol 29 edited by David Hilton-Jones, Marian Squier, Taylor Doris, and Paul M. Matthews, 287 pp, ill., London W.B. Saunders Company Ltd, 1995 in Major Problems in Neurology
No full textRe: Rubino M, Cavagnaro L and Sansone V. A new surgical technique for the treatment of scaphotrapezial arthritis associated with trapeziometacarpal arthritis: The narrow pseudoarthrosis. J Hand Surg Eur. 2016, 41: 710-718
No full textInhibitory action of acetylcholine, baclofen and GTP-gamma-S on calcium channels in adult rat sensory neurons
No full textHigh- and low-voltage activated calcium channel currents (HVA and LVA) were inhibited by acetylcholine (10-100-mu-M) and baclofen (10-mu-M) in adult rat sensory neurons. This modulatory effect was present on dihydropyridine (nifedipine 1-mu-M) and/or omega-conotoxin (3.2-mu-M, 2-5 h incubation) insensitive components and was insensitive to holding potentials (V(h) -50 to -90 mV). GTP-gamma-S (100-mu-M) prolonged calcium channel current activation in a time- and voltage-dependent manner. On the other hand, the current amplitude reduction induced by muscarinic and GABA(B) receptor activation, was not relieved by a 50-ms conditioning prepulse to +50 mV. This suggests the possibility of an alternative voltage-independent modulation mechanism
DM1, DM2 e paralisi periodiche : diagnosi e terapia
No full textLe sindromi miotoniche comprendono le
distrofie miotoniche e le miotonie non distrofiche (canalopatie del muscolo scheletrico, del sodio e del cloro). Viene
posto l’accento sulla moderna classificazione della distrofia miotonica di tipo 1, di Steinert (DM1), causata da
un’abnorme espansione della tripletta CTG nel cromosoma 19q13, e della distrofia miotonica di tipo 2 (DM2/PROMM/PDM), causata da un’abnorme espansione della tetrapletta CCTG sul cromosoma 3q21.3. Oltre agli
elementi clinici differenziali della DM1 e DM2, vengono descritti l’iter diagnostico nell’ambito delle distrofie miotoniche
e l’algoritmo per l’iter diagnostico nei pazienti adulti con sindrome miotonica. Vengono fatti anche cenni di terapia della miotonia e di management del paziente
affetto da distrofia miotonica sia tipo 1 che di tipo 2
Cerebral involvement in myotonic dystrophies
Full text linkMyotonic dystrophy types 1 (DM1) and 2 (DM2) are similar
yet distinct autosomal-dominant disorders characterized by muscle weakness,
myotonia, cataracts, and multiple organ involvement, including the
brain. One key difference between DM1 and DM2 is that a congenital form
has been described for DM1 only. Expression of RNA transcripts containing
pathogenic repeat lengths produces defects in alternative splicing of multiple
RNAs, sequesters specific repeat-binding proteins, and ultimately leads to
developmentally inappropriate splice products for a particular tissue.
Whether brain pathology in its entirety in adult DM1 and DM2 is caused by
interference in RNA processing remains to be determined. This review
focuses on the similarities and differences between DM1 and DM2 with
respect to neuropsychological, neuropathological, and neuroimaging data
relating to cerebral involvement, with special emphasis on the clinical relevance
and social consequences of such involvement
A newly-described myotonic disorder (proximal myotonic myopathy--PROMM): personal experience and review of the literature
No full textThe aim of this study is to describe the essential characteristics of a family affected by the newly-described proximal myotonic myopathy (PROMM). The clinical, laboratory and genetic findings are described and compared with those reported in the literature, and the clinical spectrum of the manifestations that are similar to but distinct from myotonic dystrophy (MD) is also explored. This has practical implications because the cases so far described suggest that the long-term prognosis of patients with PROMM seems to be more favourable than that of patients with MD
Management and treatment of Andersen-Tawil syndrome (ATS)
No full textAndersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS I) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2. 1. The skeletal muscle and cardiac symptoms are accounted for, in most cases, by a dominant negative effect of the mutations on potassium channel current, resulting in prolonged depolarization of the action potential. Mechanisms of disruption of channel function include abnormal trafficking and assembly of second messengers such as phosphatidylinositol 4,5bisphosphate, abnormal gating of the channel, and incorrect folding of the Kir2.1 protein. Less apparent is the mechanism by which these mutations account for the typical facial and skeletal abnormalities. The concomitant involvement of cardiac and skeletal muscle in ATS poses unique treatment and management challenges. Because of differences in cardiac and skeletal muscle physiology, drugs that may have a beneficial effect on cardiac function may have a detrimental effect on skeletal muscle and vice versa. We review the clinical, laboratory, and genetic features of this disorder with particular emphasis on treatment and management
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