Nonsense mediated mRNA decay affects nonsense transcripts levelsand in vitro response to gentamicin and ataluren in X-ALD

1 p.Fil: Amorosi, CA. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Kemp, Stephan. Universidad de Amsterdan; Netherlands.Fil: : Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Argaraña, Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones en Química Biológica de Córdoba; Argentina.Fil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Background: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene, characterized by increased concentrations of very long-chain fatty acids due to a defect in peroxisomal β-oxidation. Aminoglycosides and PTC124 can readthrough premature termination codons (PTCs), allowing the translation of full length proteins. Response to drugs found only in patients with the higher level of mRNA. Nonsense-mediated mRNA decay (NMD) is a mechanism, which degrades transcripts carrying PTCs and has an important role in response to treatments to promote readthrough. UPF1 RNA helicase are involved in this pathway. Objetives: Prove aminoglycosides and PTC124 in fibroblast cultures from patients with X-ALD. Analyze NMD efficiency in X-ALD fibroblasts. Materials and Methods: Fibroblasts from patients (p.Trp137*, p.Ser290*, p.Arg464*) were treated with different doses of gentamicin and PTC124. Protein expression was analyzed by Western blot. NMD was directly inhibited by using siRNA against UPF1 and indirectly by Cicloheximide. Levels of mRNA were determined by qPCR. * The study was approved by Comité Institucional de Etica para la Investigación Clínica (CIEIS) Polo Hospitalario, Provincia de Córdoba. * This work was supported by Fundación Florencio Fiorini , SECyT-UNC, PICT-FONCYThttps://onlinelibrary.wiley.com/doi/epdf/10.1007/s10545-013-9633-zFil: Amorosi, CA. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Kemp, Stephan. Universidad de Amsterdan; Netherlands.Fil: : Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Fil: Argaraña, Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones en Química Biológica de Córdoba; Argentina.Fil: Ramirez Oller, Ana María. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Hospital de Niños de la Santísima Trinidad. Centro de Estudio de las Metabolopatías Congénitas; Argentina.Bioquímica y Biología Molecular (ídem 1.6.3

New insights into the effects of support matrix on the removal of organic micro-pollutants and the microbial community in constructed wetlands

Constructed wetlands (CWs) are an eco-friendly and cost-effective technology to remove organic micro-pollutants (OMPs) from wastewater. The support matrix is an important component in CWs as it has a primary role in the growth and development of plants and microbes. However, the roles of the support matrix in CWs in removing OMPs have not been systematically studied. Therefore, in this study, six common materials (sand, zeolite, blast iron slag, petcoke, polonite and crushed autoclaved aerated concrete (CAAC)) as support matrixes were firstly investigated by batch tests to explore their adsorption capacities to selected OMPs (ibuprofen, iohexol, tebuconazole and imazalil). Results showed that the adsorption capacities of the materials were low (at the level of μg/g) compared to well-known sorbents (at the level of mg/g), such as activated carbon and carbon nanotubes. Columns packed with the six materials, respectively, were then built up to study the effects of different materials on microbial community. In the medium-term study (66 days), the removal of four OMPs in all the columns increased by 2–58% from day 25 to day 66, and was mainly attributed to microbial degradation. Furthermore, Community-level physiological profiling (CLPP) analysis indicates that material presence shaped the microbial community metabolic function not only in the interstitial water but also in the biofilm. Overall, all the findings demonstrate that although the adsorption capacities of the common materials are low, they may be a driver to improve the removal of OMPs by altering microbial community function in CWs

Renal vasculitis in Colombia

A retrospective review of publications about primary vasculitis cases was performed from the Colombian medical literature, the clinical and pathological features are described.The Renal vasculitis occurred in 33.9% of cases of primary vasculitis reviewed and was more frequent in women. The main clinical, hematological, immunological variables and nephropathology and immunosuppressive treatments used findings are described

Aproximación a la creación de las redes de distribución de libros en América a través de las fuentes españolas (segunda mitad del siglo XVI)

This article analyses the merchants’ networks through which books arrived to the Americas and circulated on it during the Sixteenth century. In order to do so, the documents from different Spanish archives are combined here. Those documents allow us to complete the American sources, having a more precise idea about the book trade in the Atlantic, and who were the agents involved on it.Este artículo analiza las redes comerciales a través de las cuales los libros llegaban y circulaban por América durante el siglo XVI. Para ello se combinan distintos archivos españoles, los cuales nos permiten completar la información ofrecida por los archivos americanos, de forma que podamos tener una idea más precisa sobre el mercado del libro en el ámbito atlántico y quiénes fueron los agentes implicados en el mismo

Diabetes-related excess mortality in Mexico: a comparative analysis of National Death Registries between 2017-2019 and 2020

OBJECTIVE: To estimate diabetes-related mortality in Mexico in 2020 compared with 2017-2019 after the onset of the coronavirus disease 2019 (COVID-19) pandemic. RESEARCH DESIGN AND METHODS: This retrospective, state-level study used national death registries of Mexican adults aged ≥20 years for the 2017-2020 period. Diabetes-related death was defined using ICD-10 codes listing diabetes as the primary cause of death, excluding certificates with COVID-19 as the primary cause of death. Spatial and negative binomial regression models were used to characterize the geographic distribution and sociodemographic and epidemiologic correlates of diabetes-related excess mortality, estimated as increases in diabetes-related mortality in 2020 compared with average 2017-2019 rates. RESULTS: We identified 148,437 diabetes-related deaths in 2020 (177 per 100,000 inhabitants) vs. an average of 101,496 deaths in 2017-2019 (125 per 100,000 inhabitants). In-hospital diabetes-related deaths decreased by 17.8% in 2020 versus 2017-2019, whereas out-of-hospital deaths increased by 89.4%. Most deaths were attributable to type 2 diabetes (130 per 100,000 inhabitants). Compared with 2018-2019 data, hyperglycemic hyperosmolar state and diabetic ketoacidosis were the two contributing causes with the highest increase in mortality (128% and 116% increase, respectively). Diabetes-related excess mortality clustered in southern Mexico and was highest in states with higher social lag, rates of COVID-19 hospitalization, and prevalence of HbA1c ≥7.5%. CONCLUSIONS: Diabetes-related deaths increased among Mexican adults by 41.6% in 2020 after the onset of the COVID-19 pandemic, occurred disproportionately outside the hospital, and were largely attributable to type 2 diabetes and hyperglycemic emergencies. Disruptions in diabetes care and strained hospital capacity may have contributed to diabetes-related excess mortality in Mexico during 2020

Salivary characteristics may be associated with burning mouth syndrome?

Burning mouth syndrome (BMS) it is characterized by burning and uncomfortable sensations with no clinical alterations or laboratory findings. The evaluation of the salivary characteristics of people with BMS can help the understanding of the pathogenesi

Structure of the TPR Domain of AIP: Lack of Client Protein Interaction with the C-Terminal alpha-7 Helix of the TPR Domain of AIP Is Sufficient for Pituitary Adenoma Predisposition

PMCID: PMC3534021This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Collaborative and Inclusive Process with the Autism Community: A Case Study in Colombia About Social Robot Design

One of the most promising areas in which social assistive robotics has been introduced is therapeutic intervention for children with autism spectrum disorders (CwASD). Even though there are promising results in therapeutic contexts, there is a lack of guidelines on how to select the appropriate robot and how to design and implement the child-robot interaction. The use of participatory design (PD) methods in the design of technology-based processes for CwASD is a recognition of the stakeholders as "experts" in their fields. This work explores the benefits brought by the use of PD methods in the design of a social robot, with a specific focus on their use in autism spectrum disorders therapies on the Colombian autism community. Based on what proved to be effective in our previous research, we implemented participatory methods for both the CwASD and the stakeholders. The process leverages the active role of participants using a focus group approach with parents and specialists, and scene cards, narrative and handmade generative methods with the children. To overcome some challenges of traditional PD processes, where not all community actors are considered, we included a Colombian community consisting of therapists, nurses, caregivers and parents. The proposed PD process provides an opportunity to learn from several community actors (and thus different cultural and social aspects of developing countries), improving traditional robot design methods. In this way, the findings are summarized through a set of guidelines regarding the design of a social robot-device suitable to be implemented for robot-assisted therapy for CwASD

Active commuting to and from university, obesity and metabolic syndrome among Colombian university students

Background: There is limited evidence concerning how active commuting (AC) is associated with health benefits in young. The aim of the study was to analyze the relationship between AC to and from campus (walking) and obesity and metabolic syndrome (MetS) in a sample of Colombian university students. Methods: A total of 784 university students (78.6% women, mean age = 20.1 ± 2.6 years old) participated in the study. The exposure variable was categorized into AC (active walker to campus) and non-AC (non/infrequent active walker to campus: car, motorcycle, or bus) to and from the university on a typical day. MetS was defined in accordance with the updated harmonized criteria of the International Diabetes Federation criteria. Results: The overall prevalence of MetS was 8.7%, and it was higher in non-AC than AC to campus. The percentage of AC was 65.3%. The commuting distances in this AC from/to university were 83.1%, 13.4% and 3.5% for < 2 km, 2- 5 km and > 5 km, respectively. Multiple logistic regressions for predicting unhealthy profile showed that male walking commuters had a lower probability of having obesity [OR = 0.45 (CI 95% 0.25–0.93)], high blood pressure [OR = 0.26 (CI 95% 0.13–0.55)] and low HDL cholesterol [OR = 0.29 (CI 95% 0.14–0.59)] than did passive commuters. Conclusions: Our results suggest that in young adulthood, a key life-stage for the development of obesity and MetS, AC could be associated with and increasing of daily physical activity levels, thereby promoting better cardiometabolic health.This study was part of the project entitled “Body Adiposity Index and Biomarkers of Endothelial and Cardiovascular Health in Adults”, which was funded by Centre for Studies on Measurement of Physical Activity, School of Medicine and Health Sciences, Universidad del Rosario (Code N° FIUR DNBG001) and Universidad de Boyacá (Code N° RECT 60)