PDGF-BB serum levels are decreased in adult onset Pompe patients

Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGFβ, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease

Spread of a SARS-CoV-2 variant through Europe in the summer of 2020.

Following its emergence in late 2019, the spread of SARS-CoV-21,2 has been tracked by phylogenetic analysis of viral genome sequences in unprecedented detail3–5. Although the virus spread globally in early 2020 before borders closed, intercontinental travel has since been greatly reduced. However, travel within Europe resumed in the summer of 2020. Here we report on a SARS-CoV-2 variant, 20E (EU1), that was identified in Spain in early summer 2020 and subsequently spread across Europe. We find no evidence that this variant has increased transmissibility, but instead demonstrate how rising incidence in Spain, resumption of travel, and lack of effective screening and containment may explain the variant’s success. Despite travel restrictions, we estimate that 20E (EU1) was introduced hundreds of times to European countries by summertime travellers, which is likely to have undermined local efforts to minimize infection with SARS-CoV-2. Our results illustrate how a variant can rapidly become dominant even in the absence of a substantial transmission advantage in favourable epidemiological settings. Genomic surveillance is critical for understanding how travel can affect transmission of SARS-CoV-2, and thus for informing future containment strategies as travel resumes. © 2021, The Author(s), under exclusive licence to Springer Nature Limited

Perturbative transport experiments on TJ-II Flexible Heliac

Transport properties of TJ-II are explored performing perturbative experiments and taking advantage of TJ-II flexibility. Rotational transform can be varied in a wide range, which allows one to introduce low order rationals and to study their effect on transport. On the other hand, confinement properties can be studied at very different rotational transform values and for different values of magnetic shear: Experiments on influence of the magnetic shear on confinement are reported. In these cases a Ohmic current has been induced in TJ-II plasma to modify magnetic shear and to evaluate itsd effect on confinement, showing that negative shear improves the confinement. Heat transport is also reduced by locating a low order rational near the power deposition profile. Plasma potential profiles have been recently measured in some configurations up to the plasma core with the Heavy Ion Beam Probe (HIBP) diagnostic and the electric field values measured in low-density plasmas are consistent with neoclassical calculations near the plasma core. Plasma edge turbulent transport has been studied in configurations that are marginally stable due to decreased magnetic well. Results show a dynamical coupling between gradients and turbulent transport. Finally, cold pulse propagation has been studied showing ballistic non diffusive propagation

Intake of slow-digesting carbohydrates is related to changes in the microbiome and its functional pathways in growing rats with obesity induced by diet.

Introduction: The main cause of insulin resistance in childhood is obesity, which contributes to future comorbidities as in adults. Although high-calorie diets and lack of exercise contribute to metabolic disease development, food quality rather than the quantity of macronutrients is more important than food density. The purpose of the present study was to examine the effects of changing the quality of carbohydrates from rapidly to slowly digestible carbohydrates on the composition of the gut microbiota and the profiles of the functional pathways in growing rats with obesity due to a high-fat diet (HFD). Methods: During the course of 4 weeks, rats growing on an HFD-containing carbohydrates with different digestive rates were fed either HFD-containing carbohydrates with a rapid digestion rate (OBE group) or HFD-containing carbohydrates with a slow digestion rate (OBE-ISR group). A non-obese group (NOB) was included as a reference, and rats were fed on a rodent standard diet (AIN93G). An analysis of gut microbiota was conducted using 16S rRNA-based metagenomics; a linear mixed-effects model (LMM) was used to determine changes in abundance between baseline and 4 weeks of treatment, and functional pathways were identified. Gut microbiota composition at bacterial diversity and relative abundance, at phylum and genus levels, and functional profiles were analyzed by integrating the Integrated Microbial Genomes (IMG) database. Results: The groups showed comparable gut microbiota at baseline. At the end of the treatment, animals from the ISR group exhibited differences at the phylum levels by decreasing the diversity of Fisher’s index and Firmicutes (newly named as Bacillota), and increasing the Pielou’s evenness and Bacteroidetes (newly named as Bacteroidota); at the genus level by increasing Alistipes, Bifidobacterium, Bacteroides, Butyricimonas, Lachnoclostridium, Flavonifractor, Ruminiclostridium 5, and Faecalibaculum and decreasing Muribaculum, Blautia, and Ruminiclostridium 9. Remarkably, relative abundances of genera Tyzzerella and Angelakisella were higher in the OBE group compared to NOB and OBE-ISR groups. In addition, some microbiota carbohydrate metabolism pathways such as glycolysis, glucuronic acid degradation, pentose phosphate pathway, methanogenesis, and fatty acid biosynthesis exhibited increased activity in the OBE-ISR group after the treatment. Higher levels of acetate and propionate were found in the feces of the ISR group compared with the NOB and OBE groups. Conclusion: The results of this study demonstrate that replacing rapidly digestible carbohydrates with slowly digestible carbohydrates within an HFD improve the composition of the gut microbiota. Consequently, metabolic disturbances associated with obesity may be prevented

Consensus statement on the diagnosis, management, and treatment of Angiodema mediated by Bradykinin. Part I. Classification, epidemiology, pathophysiology, genetics, clinical symptoms, and diagnosis

Background: There are no Spanish guidelines or consensus statement on bradykinin-induced angioedema. Aim: To review the pathophysiology, genetics, and clinical symptoms of the different types of bradykinin-induced angioedema and to draft a consensus statement in light of currently available scientifi c evidence and the experience of experts. This statement will serve as a guideline to health professionals. Methods: The consensus was led by the Spanish Study Group on Bradykinin-Induced Angioedema (SGBA), a working group of the Spanish Society of Allergology and Clinical Immunology. A review was conducted of scientifi c papers on different types of bradykinin-induced angioedema (hereditary and acquired angioedema due to C1 inhibitor defi ciency, hereditary angioedema related to estrogens, angioedema induced by angiotensin-converting enzyme inhibitors). Several discussion meetings of the SGBA were held in Madrid to reach the consensus. Results: The pathophysiology, genetics, and clinical symptoms of the different types of angioedema are reviewed. Diagnostic approaches are discussed and the consensus reached is described. Conclusions: A review of bradykinin-induced angioedema and a consensus on diagnosis are presentedIntroducción: No existen guías previas españolas sobre el manejo del angioedema mediado por bradicinina. Objetivos: Revisar la fi siopatología, genética y clínica y alcanzar un consenso sobre el diagnóstico de los diferentes tipos de angioedema mediado por bradicinina a la luz de la evidencia científi ca disponible y la experiencia de los expertos, que sirva como guía para profesionales de la salud. Métodos: SGBA/GEAB, un grupo de trabajo de la SEAIC dirigió el consenso. Se realizó una revisión de los documentos científi cos publicados sobre los diferentes tipos de angioedema mediado por bradicinina [angioedema hereditario o adquirido por defi ciencia de inhibidor de la C1 esterasa, angioedema hereditario relacionado con estrógenos (AEH tipo III, AEH-FXII), angioedema inducido por IECA (inhibidores del enzima convertidor de angiotensina]. Hubo varias reuniones del SGBA/GEAB para alcanzar el consenso. Resultados: Se revisan la fi siopatología, genética y clínica de los diferentes tipos de angioedema por bradicinina. Por otro lado, se discuten los procedimientos diagnósticos y se describe el consenso alcanzado sobre el diagnóstico. Conclusiones: Se presenta una revisión del angioedema mediado por bradicinina y un consenso sobre el diagnóstico del angioedema mediado por bradicina.Dr. Teresa Caballero is a researcher with the Hospital La Paz Health Research Institute (IdiPaz) program for promoting research activities (2009). Publication of this manuscript is sponsored by the Spanish Society of Allergy and Clinical Immunology (SEAIC) and IdiPa