12 research outputs found
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1).status: publishe
Retrospective Analysis of Chilean and Mexican GI Stromal Tumor Registries: A Tale of Two Latin American Realities
Les piliers du diaphragme et la traversée diaphragmatique de l'œsophage. Applications au reflux gastro-œsophagien, a son exploration et à son traitement
An international perspective on preceding infections in Guillain-Barré Syndrome: the IGOS-1000 cohort
Background and objectives: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across geographical regions has been suggested to be related to differences in the distribution of preceding infections, but this has not been studied on a large scale.
Methods: We analysed the first 1000 patients included in the International GBS Outcome Study with available biosamples (n=768) for the presence of a recent infection with: Campylobacter jejuni, hepatitis E virus, Mycoplasma pneumoniae, cytomegalovirus, and Epstein-Barr virus.
Results: Serological evidence of a recent infection with C. jejuni was found in 228 (30%), M. pneumoniae in 77 (10%), hepatitis E virus in 23 (3%), cytomegalovirus in 30 (4%) and Epstein-Barr virus in 7 (1%) patients. Evidence of more than one recent infection was found in 49 (6%) of these patients. Symptoms of antecedent infections were reported in 556 patients (72%), and this proportion did not significantly differ between those testing positive or negative for a recent infection. The proportions of infections were similar across continents. The sensorimotor variant and the demyelinating electrophysiological subtype were most frequent across all infection groups, although proportions were significantly higher in patients with a cytomegalovirus and significantly lower in those with a C. jejuni infection. C. jejuni–positive patients were more severely affected, indicated by a lower MRC sum score at nadir (P=0.004), and a longer time to regain the ability to walk independently (P=0.005). The pure motor variant and axonal electrophysiological subtype were more frequent in Asian compared to American or European C. jejuni-positive patients (P<0.001, resp. P= 0.001). Time to nadir was longer in the cytomegalovirus-positive patients (P=0.004).
Conclusion: Across geographical regions, the distribution of infections was similar but the association between infection and clinical phenotype differed. A mismatch between symptom reporting and serological results and the high frequency of co-infections, demonstrate the importance of broad serological testing in identifying the most likely infectious trigger. The association between infections and outcome indicates their value for future prognostic models
Overexpression of the Promigratory and Prometastatic PTK7 Receptor Is Associated with an Adverse Clinical Outcome in Colorectal Cancer
Assembling the Dead, Gathering the Living: Radiocarbon Dating and Bayesian Modelling for Copper Age Valencina de la Concepción (Seville, Spain)
The great site of Valencina de la Concepción, near Seville in the lower Guadalquivir valley of southwest Spain, is presented in the context of debate about the nature of Copper Age society in southern Iberia as a whole. Many aspects of the layout, use, character and development of Valencina remain unclear, just as there are major unresolved questions about the kind of society represented there and in southern Iberia, from the late fourth to the late third millennium cal BC. This paper discusses 178 radiocarbon dates, from 17 excavated sectors within the c. 450 ha site, making it the best dated in later Iberian prehistory as a whole. Dates are modelled in a Bayesian statistical framework. The resulting formal date estimates provide the basis for both a new epistemological approach to the site and a much more detailed narrative of its development than previously available. Beginning in the 32nd century cal BC, a long-lasting tradition of simple, mainly collective and often successive burial was established at the site. Mud-vaulted tholoi appear to belong to the 29th or 28th centuries cal BC; large stone-vaulted tholoi such as La Pastora appear to date later in the sequence. There is plenty of evidence for a wide range of other activity, but no clear sign of permanent, large-scale residence or public buildings or spaces. Results in general support a model of increasingly competitive but ultimately unstable social relations, through various phases of emergence, social competition, display and hierarchisation, and eventual decline, over a period of c. 900 years