104,240 research outputs found
Il carriaggo di Nîmes, canzone di gesta del XII secólo, a cura di G. E. Sansone, 1969
No full textMcMillan Duncan. Il carriaggo di Nîmes, canzone di gesta del XII secólo, a cura di G. E. Sansone, 1969. In: Romania, tome 91 n°361, 1970. pp. 114-115
Angelone F. , Ponsiglione A.M. , Belfiore M.P. , Gatta G. , Grassi R. , Amato F. , Sansone M.
No full textDM1, 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
No full textMyotonic 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
Experiments on Speeding Up the Recursive Fast Fourier Transform by Using AVX-512 SIMD Instructions
No full textThe Fast Fourier Transform is probably one of the most studied algorithms of all time. New techniques regarding hardware and software are often applied and tested on it, but the interest in FFT is still large because of its applications - signal and image processing, numerical computations, etc. In this paper, we start from a trivial recursive version of the algorithm and we speed it up using AVX-512 Single Instruction Multiple Data (SIMD) instructions on an Intel i7 CPU with native support to AVX-512. In particular, we study the impact of two different storage choices of vector of complex numbers: block interleaving and complex interleaving. Experimental results show that automatic vectorization provides a 10.65% (∼ 1.12 × ) speedup, while with vectorization done by hand the speedup reaches 33.78% (∼ 1.51 × ). We have made our code publicly available, which could be helpful for SIMD instructions teaching purposes
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
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