27 research outputs found
Are anti-ganglioside antibodies detectable in serum from patients with critical illness myopathy and polyneuropathy?
Introduction: Critical illness myopathy (CIM) and polyneuropathy (CIP) are the most common cause of acquired weakness in intensive care units (ICU). However, its exact pathogenesis remains unclear. Abnormal excitability of muscle due to a sodium channelopathy is one of the mechanisms proposed. The aim of this study is to test for the presence of anti-ganglioside antibodies in serum from patients with CIM or both combined CIM/CIP, since there is evidence that they can cause reversible dysfunction of voltage-gated sodium channels.Methods: In a prospective way, we studied 35 patients admitted in ICU by weekly EMG. When positive spontaneous activity (PSA) was detected, a muscle biopsy was performed. Twenty patients met criteria of CIM; five of them also developed overlapping CIP. We did not detect any kind of abnormality in 10 patients during the follow up period. Sera were analyzed for the presence of anti-ganglioside antibodies (Ganglioside-profile 2 Euroline, Euroimmun). Results: Overall, positive reactivity against anti-GT1b was found in one patient with CIM, representing 2.8% (1/35) of the total sample.Conclusion: Reduced percentage of patients affected of CIM or CIM/CIP exhibits positive reactive against anti-ganglioside antibodies. Thus, it could be suggested they do not play a primary role in their pathogenesis. Key words: Critical illness myopathy, critical illness polineuropathy, difficult weaning, channelopathy, muscle fiber inexcitability, anti-ganglioside antibodies DOI: http://dx.doi.org/10.17268/rmt.2020.v15i01.0
The need for establishing a universal CTG sizing method in myotonic dystrophy type 1
The number of cytosine-thymine-guanine (CTG) repeats (‘CTG expansion size’) in the 3′untranslated region (UTR) region of the dystrophia myotonica-protein kinase (DMPK) gene is a hallmark of myotonic dystrophy type 1 (DM1), which has been related to age of disease onset and clinical severity. However, accurate determination of CTG expansion size is challenging due to its characteristic instability. We compared five different approaches (heat pulse extension polymerase chain reaction [PCR], long PCR-Southern blot [with three different primers sets—1, 2 and 3] and small pool [SP]-PCR) to estimate CTG expansion size in the progenitor allele as well as the most abundant CTG expansion size, in 15 patients with DM1. Our results indicated variability between the methods (although we found no overall differences between long PCR 1 and 2 and SP-PCR, respectively). While keeping in mind the limited sample size of our patient cohort, SP-PCR appeared as the most suitable technique, with an inverse significant correlation found between CTG expansion size of the progenitor allele, as determined by this method, and age of disease onset (r = −0.734, p = 0.016). Yet, in light of the variability of the results obtained with the different methods, we propose that an international agreement is needed to determine which is the most suitable method for assessing CTG expansion size in DM1
Preliminary findings on CTG expansion determination in different tissues from patients with myotonic dystrophy type 1
Myotonic Dystrophy type 1 (DM1) is characterized by a high genetic and clinical variability. Determination of the genetic variability in DM1 might help to determine whether there is an association between CTG (Cytosine-Thymine-Guanine) expansion and the clinical manifestations of this condition. We studied the variability of the CTG expansion (progenitor, mode, and longest allele, respectively, and genetic instability) in three tissues (blood, muscle, and tissue) from eight patients with DM1. We also studied the association of genetic data with the patients’ clinical characteristics. Although genetic instability was confirmed in all the tissues that we studied, our results suggest that CTG expansion is larger in muscle and skin cells compared with peripheral blood leukocytes. While keeping in mind that more research is needed in larger cohorts, we have provided preliminary evidence suggesting that the estimated progenitor CTG size in muscle could be potentially used as an indicator of age of disease onset and muscle function impairment
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild. However, the data available on interrupted DM1 patients and their phenotype are scarce. We studied 49 Spanish DM1 patients, whose clinical phenotype was evaluated in depth. Blood DNA was obtained and analyzed through triplet‐primed polymerase chain reaction (PCR), long PCR‐Southern blot, small pool PCR, AciI digestion, and sequencing. Five patients of our registry (10%), belonging to the same family, carried CCG interruptions at the 3’ end of the CTG expansion. Some of them presented atypical traits such as a very late onset of symptoms (>50 years) and a severe axial and proximal weakness requiring walking assistance. They also showed classic DM1 symptoms including cardiac and respiratory dysfunction, which were severe in some of them. Sizes and interrupted allele patterns were determined, and we found a contraction and an expansion in two intergenerational transmissions. Our study contributes to the observation that DM1 patients carrying interruptions present with atypical clinical features that can make DM1 diagnosis difficult, with a later than expected age of onset and a previously unreported aging‐related severe disease manifestation
Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the <em>MYH7</em> gene
Myotilinopathy unmasked by statin treatment: A case report
Sin financiación2.393 JCR (2018) Q3, 115/199 Clinical Neurology, 184/261 Neurosciences0.950 SJR (2018) Q2, 134/378 Neurology (clinical), 80/188 Physiology, 45/108 Physiology (medical); Q3, 59/90 Cellular and Molecular NeuroscienceNo data IDR 2018UE