1,720,989 research outputs found
Nephrogenic diabetes insipidus and Werdnig-Hoffman disease in a child: an unusual association.
No full textJuvenile type of distal and segmental muscular atrophy of upper extremities. Description of a case.
No full textLong-term efficacy of interferon-alpha in chronic inflammatory demyelinating polyneuropathy.
No full textWe describe a single case of chronic inflammatory demyelinating polyneuropathy (CIDP) responding to interpheron alpha treatment
Sensory manifestations in Charcot-Marie-Tooth disease
No full textInvolvement of sensory nerves in Charcot-Marie-Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p < 0.001); there was a presenting manifestation in 11/32 CMT2 patients vs. 1/20 in CMT1 patients (p = 0.018), and one of the main features in 6/32 CMT2 patients vs. 1/20 CMT1 patients. Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT1 group. Within the CMT2 group, patients with positive sensory symptoms as a main or onset feature (11 patients) had significantly later onset (median 57 vs. 25 years; p = 0.042) and less severely impaired motor action potentials than CMT2 patients without positive sensory symptoms (8 patients). Nociceptive pain was especially frequent in CMT1A patients (10/14, 71%). Sensory manifestations in CMT seem more frequent than previously thought, especially in CMT2; however, their frequency may be different in the genetic subtypes of the disease and/or an expression of phenotypic variability. Sensory symptoms, and in particular pain, may represent an important issue in the management of CMT patients, especially in a physical medicine approach
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Immunohistochemical localization of utrophin and other cytoskeletral proteins in skin smooth muscle in neuromuscular diseases
No full textWe investigated the immunohistochemical distribution of cytoskeletal proteins in smooth muscles of 15 patients with Duchenne muscular dystrophy (DMD), 8 patients with Becker muscular dystrophy (BMD), 28 patients with various neuromuscular diseases, and 2 normal controls, performing skin and muscle biopsies. Dystrophin immunostaining confirmed absent reaction in the arrector pili muscles of DMD patients, faint positive reaction in BMD patients, and strong dystrophin reaction in patients with other neuromuscular diseases and normal controls. Immunostaining of utrophin was positive with variable intensity in the arrector pili muscles in all DMD patients. In BMD patients, utrophin was faintly expressed in the arrector pili muscles in 2 cases, and negative in the other 5 patients. In the other cases of neuromuscular diseases and in normal controls, immunostaining for utrophin was negative in the arrector pili muscles. Staining of the capillary endothelial cells and muscular vessel walls was seen in normal controls, as well as in DMD, BMD, and other neuromuscular diseases. Vinculin, vimentin and desmin were expressed both in arrector pili smooth muscles and in vessel walls of patients with dystrophinopathy and other neuromuscular diseases, as well as in normal controls. Thus utrophin is normally expressed in the smooth muscle of the vessels and its expression does not vary in neuromuscular diseases. On the contrary, in the arrector pili smooth muscle utrophin is not expressed in normal controls but it is in dystrophinopathies, paralleling the findings in striated muscle, which expresses utrophin in a reciprocal manner with respect to dystrophin
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