1,721,035 research outputs found
Postural instability in Charcot-Marie-Tooth 1A disease
No full textThe aim of this study was to evaluate the influence of somatosensory impairment, distal muscle weakness and foot deformities on the balance in 21 CMT1A patients using a baropodometric platform. Stabilometric analysis by measuring sway area and velocity of a centre of pressure (CoP) both at open and closed eyes were used to assess postural imbalance. Static analysis, by measuring the load and the plantar surface of forefoot, midfoot and hindfoot was used to define the footprint shape and to assess as a whole foot deformities. Stabilometric and static results were compared with those of a control group. In CMT1A patients, stabilometric findings were correlated with static parameters, Achilles' tendon retraction, distal muscle strength and CMT examination score (CMTES). CMT1A patients compared to controls had lower plantar surface and load on midfoot, and higher load on a forefoot. CMT1A patients had a greater postural instability, since they had a higher CoP velocity, both at open and closed eyes. Moreover, the CoP velocity correlated inversely with the strength of ankle dorsi-flexion muscles and directly with CMTES as whole and with the item "motor symptoms legs". Postural imbalance was not correlated with sensory impairment and foot deformities as expressed by static analysis and Achilles' tendon retraction. In this study we demonstrated an altered balance in CMT1A patients during upright standing. The imbalance in our CMT patients seems to be related to the weakness of ankle dorsi-flexor muscles rather than sensory impairment or foot deformities. These results could be due to a mildly affected CMT1A population, evaluated in an early stage of the disease
Role of Imaging in Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review
No full textIntroduction: Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is a treatable immune-mediated neuropathy with a relapsing-remitting course and symmetrical proximal and distal weakness. Diagnosis relies on nerve conduction studies (NCS) to detect demyelination but can be difficult in atypical cases. In such instances, nerve ultrasound (US) and MRI of the brachial and lumbosacral plexuses help improve diagnostic accuracy and guide treatment. This review examines the role of imaging in CIDP, focusing on its contribution to diagnosis, prognosis, and follow-up. Methods: A total of 183 articles were identified in the PubMed database using the search terms: “CIDP AND imaging,” “CIDP AND ULTRASOUND,” and “CIDP AND MRI.” Based on predefined inclusion criteria, 106 articles were selected for review (63 related to US and 43 to MRI). From each included study, data were extracted on the study population, imaging protocols used, outcome measures applied, and main findings relevant to the review's aim. Results: The most used ultrasound and MRI protocols, along with their associated outcome measures, are discussed. Furthermore, the roles of each imaging modality in diagnosis, prognosis, and follow-up are analysed. Conclusion: Although NCS remain the primary instrumental test for the diagnosis of CIDP, US and MRI can be valuable adjuncts in cases with diagnostic uncertainty. Additionally, these imaging modalities may be more useful than NCS in prognostic evaluation, helping in predict treatment response and monitoring subclinical disease activity
Acute onset anti-MAG neuropathy and paradoxical worsening to rituximab: a challenging case
No full textBackground and aim: Anti-myelin-associated glycoprotein (anti-MAG) neuropathy is typically a chronic, progressive, predominantly sensory distal and demyelinating neuropathy, with ataxia and postural tremor Methods and results: Herein we describe an atypical case of anti-MAG neuropathy, characterized by acute lower limb weakness and severe ataxia with difficulty in stance and walking, resembling a Guillain-Barrè Syndrome. The presence of disproportionate distal nerve conduction slowing, and an IgM k monoclonal component have arisen the suspect of anti-MAG neuropathy, confirmed by high titer anti-MAG antibody. Rituximab treatment was started, and patient experienced a dramatic clinical worsening which was rescued by Plasma Exchange. Interpretation: We described an atypical case of anti-MAG neuropathy that was challenging in diagnosis and therapeutic management
Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report
Full text link: Antagonists of tumour necrosis factor α (TNFα) are a common therapeutic choice for autoimmune diseases. Although they are effective and relatively safe, an increasing number of immune-mediated adverse events have been reported. Among these, neurological adverse effectsm such as consisting of demyelinating events in the central and peripheral nervous system were described. Demyelination of the central nervous system is a rare complication after treatment with TNFα antagonists. Here, we report a case of multiple sclerosis under treatment with TNFα antagonists and discuss its etiopathogenesis. This 45-year-old female patient developed signs and symptoms suggestive of primary progressive multiple sclerosis during treatment with adalinumab for nodular cystic acne, and magnetic resonance imaging of the patient showed typical lesions of demyelinating disease
A case of severe increase of liver enzymes in a ATTRv patient after one year of inotersen treatment
Full text linkBACKGROUND: Inotersen is an antisense oligonucleotide used to treat hereditary transthyretin amyloidosis (ATTRv). The most common drug-related adverse effects (AEs) include thrombocytopenia and glomerulonephritis. Hepatic damage is rare, but liver enzyme monitoring is mandatory. CASE REPORT: A 70-year-old man with ATTRv (Val30Met) treated with inotersen developed a severe increase of transaminases, with normal bilirubin and cholinesterase levels, that forced us to stop therapy. At the same time, other causes of acquired hepatitis were excluded, and the hypothesis of an inotersen-related hepatic toxicity was supported by the normalization of liver enzymes after 40 days from the drug interruption. DISCUSSION: Our case showed that 1-year inotersen treatment can stabilize neurological impairment and even improve quality of life and suggests to carefully monitor liver enzymes in order to avoid an inotersen-related hepatic dysfunction
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
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP
No full textObjective: The current clinical measures (ONLS, R-ODS, mRS, and MRC) may not be so sensitive in capturing minimal variations or measuring fatigue in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to assess if 6-min walk test (6MWT) is able to increase the sensitivity in detecting response to therapy and to capture fatigue in CIDP patients. Methods: We tested 6MWT in 42 CIDP patients. Using both anchor-based and distribution-based approaches, we estimated the meaningful clinical change after therapy by calculating the minimum improvement cutoff (Minimal Clinically Important Difference Score—MCID) required for considering a patient as responder. We calculated the sensitivity of the 6MWT versus the other clinical outcomes. We analysed fatigue by comparing the velocities between first and sixth minutes of the 6MWT and the effect of treatment on fatigue using an ANOVA model for repeated measures. Results: MCID resulted equal to 20 m. The combination of 6MWT-MCID cutoff with the other clinical measures led to identify 74% of responders. The sensitivity of the 6MWT was 90% versus 77% of the other clinical measures. The 6MWT was also sensitive in capturing fatigue-related changes, even though fatigue was not influenced by treatment. Conclusions: The combination of the 6MWT with the other clinical measures increased the chance to detect the quote of responders. We propose to include the 6MWT in the routine assessment of CIDP patients and the MCID cutoff at 20 m could be set for identifying the responders and properly guiding the therapy managemen
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
Pregnancy experience in women with spinal muscular atrophy: a case series
Full text link: Many women with spinal muscular atrophy (SMA) types II, III, and IV reach fertile age, and some of them may consider pregnancy. However, limited data are available about the potential effects of pregnancy on the course of SMA and the outcomes of pregnancies in these patients. Furthermore, the use of several disease-modifying therapies for the treatment of all types of SMA is expected to increase the number of female SMA patients considering pregnancy in the coming years. The aim of this report is to provide clinicians with an overview of the patients in our cohort who have experienced pregnancies. We conducted a retrospective analysis on these women, through the administration of a questionnaire, which investigated how they experienced the different stages of the pregnancy. Ten patients (3 SMAII; 7 SMA III) participated in the survey; 40% had pregnancies for a total of nine, six of which were term-pregnancies. The mean age of first pregnancy was 32.5 ± 7.8 years for SMA II patients, and 30.5 ± 2.1 years for SMA III. All pregnancies ended in cesarean sections. Interestingly, the sitters had more frequent complications in pre-term labor and delivery, but the newborns were all healthy. This report shows that a successful pregnancy is possible in female patients with SMA. However, the ideal approach should involve a standardized multidisciplinary team capable of effectively addressing every possible scenario. For this reason, it is critically important that clinicians working with SMA patients gain more in-dept knowledge about this topic
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