1,721,045 research outputs found
Long term follow-up of cerebrovascular abnormalities in late onset pompe disease (LOPD)
No full textPompe disease or glycogen storage disease type II (GSDII;
OMIM #232300) is a rare recessive metabolic disorder
caused by a deficiency in the lysosomal acid a-glucosidase
activity resulting in lysosomal glycogen accumulation in
different tissues. Glycogen accumulation has been detected
in skeletal and heart muscles, in smooth muscle of blood
vessels, gastrointestinal tract and urinary bladder, leading a
multisystemic clinical or subclinical involvement.
Enzyme replacement therapy (ERT) changed the natural
history of classic form of Pompe disease (infantile onset)
and showed to improve or stabilize motor and respiratory
performance in 2/3 of LOPD patients
Miopatie e malattie della giunzione neuromuscolare
No full textDefinizione, caratteristiche fisiopatologiche, morfologiche e cliniche delle malattie del muscolo e della giunzione neuromuscolareDefinition, pathophysiological, morphological and clinical characteristics of muscular and neuromuscular junction disorder
Lipid Myopathies
Full text linkDisorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications
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
Immune checkpoint inhibitors (ICIs)-related ocular myositis
No full textWe present extensive clinical, serological, morphological and muscle imaging data of a 66-year-old man with isolated bilateral ptosis and external ophthalmoplegia secondary to Immune checkpoint inhibitors (Pembrolizumab). He had elevated CK level (>5000 UI/L). No facial, bulbar, proximal, distal or axial muscular weakness was observed. Electromyography (EMG) showed myopathic pattern, with spontaneous activity. Myositis specific antibodies and anti-striational antibodies were negative. Cardiac and respiratory functions were preserved. Skeletal muscle MRI was unremarkable, whereas extraocular muscles revealed bilateral hyperintensities in inferior rectus, medial rectus and superior oblique muscles in both T1 and STIR sequences, with mild muscle atrophy. Muscle biopsy showed endomysial inflammatory infiltrates, MHC-1 expression was observed in clusters of non-necrotic cells. CD56 positive cells were observed in perifascicular regions. Patient discontinued Pembrolizumab and received corticosteroid treatment with progressive clinical improvement and CK normalization. Our findings support this clinical entity, suggesting that isolated ocular myositis represents a subgroup of generalised myositis with predominant ocular symptoms
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
Effects of Skin Stimulation on Sensory-Motor Networks Excitability: Possible Implications for Physical Training in Amyotrophic Lateral Sclerosis
Full text linkBACKGROUND: Many different trials were assessed for rehabilitation of patients with amyotrophic lateral sclerosis (ALS), with non-unique results. Beside the effects on muscle trophism, some of the encouraging results of physical training could be ascribed to the modulation of cortical excitability, which was found hyperexcited in ALS. OBJECTIVE: The effects of tactile skin stimulation in the modulation of the sensory-motor integrative networks in healthy subjects were assayed through the paired associative stimulation (PAS) protocol. METHODS: In total, 15 healthy subjects were enrolled. In the standard PAS session, the average amplitude of the motor evoked potential (MEP) after 10 stimuli of transcranial magnetic stimulation (TMS) was measured at the baseline and after the PAS protocol (0, 10, 20, 30, and 60 min). In the skin stimulation session, the average amplitude of the MEP was measured before and after 10 min of skin stimulation over the hand. Subsequently, each subject underwent the PAS stimulation and the measure of the average amplitude of the MEP (0, 10, 20, 30, and 60 min). RESULTS: The tactile skin stimulation on healthy subjects increases the PAS-induced sensory-motor network hyperexcitability in healthy subjects. CONCLUSION: Skin stimulation should be avoided in the physiotherapeutic approaches for patients with ALS, given the possible hyperexciting effects on the already upmodulated sensory-motor networks. They can be taken into account for diseases characterized by downregulation of cortical and transcortical networks
CORRELATIONS BETWEEN ULTRASOUND CHARACTERISTICS AND NEUROPHYSIOLOGICAL DATA IN PATIENTS WITH CHRONIC INFLAMMATORY DEMYELINATING NEUROPATHY (CIDP): A BLINDED CASE-CONTROL STUDY
No full textUltrasound imaging (US) is largely used for visualizing
peripheral nerve pathology in traumatic and entrapment
neuropathies. Few data are available on the applications of
US in inflammatory neuropathies. In a blinded case–control
study, we evaluated the US characteristics of morphological
changes and their correlations with the neurophysiological
data in the nerves of a series of patientswith CIDP. An expert
evaluator (ADP), blinded to clinical data, performed the US
study using a 15 MHz US linear transducer, in 14 continuous
CIDP patients (10 M, 5 F; median age 62, range 28–78 yrs.;
median disease duration 6.5, range 1–18 yrs.; INCAT range
0–4) and in 20 age- and body mass index-matched healthy
controls.Median, ulnar and peroneal nerves were scanned on
both sides. Nerve cross sectional area (NCSA) was evaluated
at forearm, arm and axilla for median and ulnar nerves and at
popliteal fossa for peroneal nerves. Nerves were not scanned
at sites of possible entrapment or compression (wrist, elbow and fibular head). Nerve conduction velocity (NCV) and CMAP
Prox/Dist RATIO were measured along forearms, arms and
legs. Mann–Whitney U Test was used to compare NCSA
of patients and controls; linear regression analysis was used
to evaluate the correlation of NCSA with neurophysiological
data and with disease duration. CIDP patients showed a
significant increase of NCSA of median nerve at forearm
(p<0.03), arm (p<0.001) and axilla (p<0.001), and of ulnar
nerve at arm (p=0.04) and axilla (p<0.005). NCSA was
inversely correlated to NCV along the evaluated segments
(p<0.03). Most of the nerve segments with highest NCSA
had a more marked reduction of NCV and a higher frequency
of conduction blocks. Finally, NCSA was inversely correlated
to disease duration (p<0.03). This study shows that US is
able to detect morphological changes in nerves of patients
with CIDP. These changes are characterized by an increase
of NCSA along the nerves of upper limbs, either in their
proximal or distal segments, and are correlated to nerve
functional changes, as shown by reduction of NCV and the
occurrence of conduction blocks
- …
