OBJECTIVES/GOALS: Diagnostic odyssey is the time it can take to a patient for receiving a diagnosis. Diagnostic process in rare diseases can be complex due to the heterogeneity of symptoms and lack of access to care. We aim to evaluate the association between diagnostic odyssey, perceived stress, and access to care, in parents of Puerto Rican patients with a rare disease. METHODS/STUDY POPULATION: We propose a cross-sectional study in parents of 100 children who received an uninformative whole exome sequencing (WES) report during a scheduled appointment with their geneticist. Discussion of WES results during clinical session, followed by a Perceived Stress Scale (PSS-10) and semi-structured interview to explore the experience of access to care during the diagnostic process will be arranged. Observation and interviews will be recorded. Data analysis and descriptive statistics will be calculated using STATA. Statistical associations (OR) will be estimated using generalized linear models at a 5% significance level. RESULTS/ANTICIPATED RESULTS: We expect to find high perceived stress in parents of Puerto Rican pediatric individuals having rare diseases, especially among single mothers. We will be able to identify limited access to care in Puerto Rico, especially in the testing pre-authorization process and long waits for geneticist appointments. Demand for advanced diagnostics is above the number of medical geneticists available in Puerto Rico, which triggers delayed diagnosis, management, and counseling. Therefore, these could affect the health disparities in our population with rare diseases. DISCUSSION/SIGNIFICANCE: This descriptive study will evaluate perceived stress in parents of pediatric patients living a diagnostic odyssey in Puerto Rico. No study has described perceived stress and access to care in this Hispanic population with undiagnosed conditions. Findings will contribute to a deep understanding of diagnostic process and limited access to care.

The famous greenstone figure known as the Tuxtla Statuette is one of only 12 objects known to bear an epi-Olmec inscription and was the first to become known to scholarship. For more than a century its original find-spot was imprecisely and erroneously identified as lying in the township of San Andrés Tuxtla or, more generally, in the Tuxtla Mountains. Correspondence in the National Anthropology Archives of the Smithsonian Institution documents that the figure was found on the Hacienda de Hueyapan de Mimendi, near the colossal head of Tres Zapotes. Archival research in Mexico's National Museum of Anthropology and the Archivo General del Estado de Veracruz, as well as interviews with descendants of owners of the Hacienda de Hueyapan and the statuette, allow us to confirm several features of the Smithsonian correspondence. The data indicate that the statuette was found within or very near the epi-Olmec regional center of Tres Zapotes and within the township of Santiago Tuxtla.

Pulses such as peas, beans or lentils are one of the most complete foods at the nutritional level; however, they are one of the most often neglected foods in the diets of university students. Entrance to university translates into a major lifestyle change for many young people, and the habits acquired or cemented at this time will remain into adulthood. The objective of this study is to analyse the association between personal/sociodemographic factors, dietary intake of other food groups and the consumption of pulses in first-year university students. This cross-sectional study is part of the UniHcos project, a multicentre study of multipurpose prospective cohorts in eleven Spanish universities. Data from 9862 university students were collected through an online self-questionnaire completed by all students who met the selection criteria and agreed to participate in the project during the 2011–2018 academic years. Of students, 75·8 % presented an inadequate (≤2 times/week) consumption of pulses. Living outside the family home in either a student residence (OR 0·76; 95 % CI 0·69, 0·84) or rental (OR 0·81; 95 % CI 0·70, 0·95) decreased the compliance with recommendations on the consumption of pulses. Low consumption of pulses is seemingly not restricted to a specific profile or dietary pattern among university students, and no specific focus group for intervention can be identified. Policies promoting the consumption of pulses among the university population as a whole are necessary to increase compliance rates with the dietary recommendations.

Darwin's frogs Rhinoderma darwinii and Rhinoderma rufum are the only known species of amphibians in which males brood their offspring in their vocal sacs. We propose these frogs as flagship species for the conservation of the Austral temperate forests of Chile and Argentina. This recommendation forms part of the vision of the Binational Conservation Strategy for Darwin's Frogs, which was launched in 2018. The strategy is a conservation initiative led by the IUCN SSC Amphibian Specialist Group, which in 2017 convened 30 governmental, non-profit and private organizations from Chile, Argentina and elsewhere. Darwin's frogs are iconic examples of the global amphibian conservation crisis: R. rufum is categorized as Critically Endangered (Possibly Extinct) on the IUCN Red List, and R. darwinii as Endangered. Here we articulate the conservation planning process that led to the development of the conservation strategy for these species and present its main findings and recommendations. Using an evidence-based approach, the Binational Conservation Strategy for Darwin's Frogs contains a comprehensive status review of Rhinoderma spp., including critical threat analyses, and proposes 39 prioritized conservation actions. Its goal is that by 2028, key information gaps on Rhinoderma spp. will be filled, the main threats to these species will be reduced, and financial, legal and societal support will have been achieved. The strategy is a multi-disciplinary, transnational endeavour aimed at ensuring the long-term viability of these unique frogs and their particular habitat.

Low birth weight (LBW) and macrosomia have been associated with later-in-life metabolic alterations. The aim of this study was to elucidate whether the expression levels of circulating microRNAs (c-miRNAs) associated with adult metabolic diseases are also dysregulated in newborns with LBW or macrosomia. The expression levels of five microRNAs (miRNAs) associated with metabolic diseases were quantified in dried blood spots of newborns with adequate birth weight, LBW and macrosomia by stem-loop real-time polymerase chain reaction. miR-29a-5p, miR-126-3p, miR-221-3p, and miR-486-5p were significantly overexpressed in newborns with macrosomia and showed no significant change in the LBW group compared to normal weight controls. miR-320a showed no statistical difference among groups. We predicted the putative target genes and pathways of the overexpressed miRNAs with bioinformatic tools. Bioinformatic analyses of overexpressed miRNAs predicted target genes involved in carbohydrate metabolism, participate in FoxO and PI3K/Akt signaling pathways, and are associated with diabetes, obesity, and cardiovascular diseases. The overexpression of circulating miR-29a-5p, miR-126-3p, miR-221-3p, and miR-486-5p may explain the increased risk of obesity and diabetes associated with macrosomia. The use of dried blood spots from newborn screening cards to quantify miRNAs expression levels could be an early and minimally invasive predictive tool for these metabolic alterations.

Little is known about the clustering patterns of lifestyle behaviours in adult populations. We explored clusters in multiple lifestyle behaviours including physical activity (PA), smoking, alcohol use and eating habits in a sample of adult population. A cross-sectional and multi-centre study was performed with six participating groups distributed throughout Spain. Participants (n 1327) were part of the Lifestyles and Endothelial Dysfunction (EVIDENT) study and were aged between 20 and 80 years. The lifestyle and cardiovascular risk (CVR) factors were analysed using a clustering method based on the HJ-biplot coordinates to understand the variables underlying these groupings. The following three clusters were identified. Cluster 1: unhealthy, 677 subjects (51 %), with a slight majority of men (58·7 %), who were more sedentary and smokers with higher consumption of whole-fat dairy products, bigger waist circumference as well as higher TAG levels, systolic blood pressure (SBP) and CVR. Cluster 2: healthy/PA, 265 subjects (20 %), including 24·0 % of males with high PA. Cluster 3: healthy/diet, including 29 % of the participants, with a higher consumption of olive oil, fish, fruits, nuts, vegetables and lower alcohol consumption. Using the unhealthy cluster as a reference, and after adjusting for age and sex, the multiple regression analysis showed that belonging to the healthy/PA cluster was associated with a lower waist circumference, body fat percentage, SBP and CVR. In summary, the three clusters were identified according to lifestyles. The ‘unhealthy’ cluster had the least favourable clinical parameters, the ‘healthy/PA’ cluster had good HDL-cholesterol levels and low SBP and the ‘healthy/diet’ cluster had lower LDL-cholesterol levels and clinical blood pressure.

We continue the study of the boundedness of the operator

on the set of decreasing functions in Lp(w). This operator was first introduced by Braverman and Lai and also studied by Andersen, and although the weighted weak-type estimate was completely solved, the characterization of the weights w such that is bounded is still open for the case in which p > 1. The solution of this problem will have applications in the study of the boundedness on weighted Lorentz spaces of important operators in harmonic analysis.

Intra-uterine growth restriction (IUGR) may induce significant metabolic and inflammatory anomalies, increasing the risk of obesity and CVD later in life. Similarly, alterations in the adipose tissue may lead to metabolic changes in children with a history of extra-uterine growth restriction (EUGR). These mechanisms may induce alterations in immune response during early life. The aim of the present study was to compare pro-inflammatory markers in prepubertal EUGR children with those in a reference population. A total of thirty-eight prepubertal children with a history of EUGR and a reference group including 123 healthy age- and sex-matched children were selected. Perinatal data were examined. In the prepubertal stage, the concentrations of inflammatory biomarkers were measured in both groups. The serum concentrations of C-reactive protein (CRP) and plasma concentrations of hepatocyte growth factor (HGF), IL-6, IL-8, monocyte chemotactic protein type 1 (MCP-1), neural growth factor, TNF-α and plasminogen activator inhibitor type 1 were determined. The plasma concentrations of inflammatory biomarkers CRP, HGF, IL-8, MCP-1 and TNF-α were higher in the EUGR group than in the reference group (P< 0·001). After adjustment for gestational age, birth weight and length, blood pressure values and TNF-α concentrations remained higher in the EUGR group than in the reference group. Therefore, further investigations should be conducted in EUGR children to evaluate the potential negative impact of metabolic, nutritional and pro-inflammatory changes induced by the EUGR condition.

Experimental and human studies have shown that proteinuria contributes to the progression of renal disease. Overexposure to filtered proteins promotes the expression and release of chemokines by tubular epithelial cells, thus leading to inflammatory cell recruitment and renal impairment. This review focuses on recent progress in cellular and molecular understanding of the role of chemokines in the pathogenesis of proteinuria-induced renal injury, as well as their clinical implications and therapeutic potential.

The aims of this study are to assess L1 and L2 variables that influence the reading acquisition of students of Moroccan origin in the South of Spain and compare their reading ability with native Spanish-speaking children. Participants were 38 students of Moroccan origin and 37 native Spanish-speaking students from the same classes. We used an oral vocabulary test and a reading comprehension test, which taps lexical, semantic, and syntactic reading processes, and reading fluency. The results indicated that immigrant students differed from native Spanish-speaking students in word reading, reading fluency, and the use of punctuation marks, but there were no significant differences in reading comprehension. In native Spanish-speaking students, reading comprehension correlated significantly with oral vocabulary and the other reading processes, but in the students of Moroccan origin, only receptive oral vocabulary in L2 correlated with the use of punctuation marks. Being in schools with educational resources specifically aimed at helping the Moroccan pupils was associated with a higher level of word reading in immigrant students.

In Amazonian fisheries, the silver arowana, Osteoglossum bicirrhosum (Cuvier 1829) is heavily exploited for human consumption as an adult, and for the aquarium trade as a small juvenile (yolk sac juvenile mainly). The periodicity of annuli formation on otoliths and growth variability of the silver arowana were studied in different river river-basins of the Peruvian Amazon between 2006 and 2009. Transverse stained sections of 606 individual otoliths were analysed from four different river-basins, the Amazonas, Ucayali, Napo and Putumayo, of which 554 could be interpreted. These belonged to 274 females ranging from 15 to 91 cm (standard length) and 280 males ranging from 30 to 91 cm. In addition, yolk sac juveniles of known age were collected to improve growth modelling. Monthly proportions of stained otolith edges validated the formation of a single annulus per year in two different river-basins with lagged hydrological cycles: the Amazonas-Ucayali and the Putumayo. Stained growth mark counts resulted in a longevity estimate of at least 16 years for the silver arowana in the Peruvian Amazon. This fish grew quickly during the first two years, and asymptotic growth was reached after four to five years, except in the Putumayo where it was reached slightly earlier. Results showed no significant growth dimorphism between sexes within basins, but indicated significant growth differences among river basins. Silver arowanas measured, on average, between 38 and 40 cm at the end of their first year. Length-at-age differences among river basins increased with age to reach over 14 cm (and >3 kg) after 7 years between the faster and slower growing populations (Amazonas and Putumayo, respectively). The growth differences observed emphasize the need for further investigation on the population structure of this species as, although these differences might merely be phenotypic responses to contrasted environmental conditions, they could alternatively reflect the existence of several populations with distinct genetic and life history characteristics. The consequences of such differences would be very important for the management and conservation of this fragile and extensively exploited species.

Modeling Olmec participation in Early Horizon interaction networks requires better understanding of the relations of Gulf Olmec communities with one another as well as with contemporaries elsewhere in Mesoamerica. We compare pottery, figurines, and obsidian assemblages from a recently isolated Early Formative component at Tres Zapotes with contemporary assemblages from San Lorenzo and Macayal, both in the Coatzacoalcos basin. Our analysis indicates that village inhabitants at Tres Zapotes interacted with populations in eastern Olman but also forged their own economic and social ties with central Veracruz and the Mexican highlands. This evidence suggests a heterogeneous politico-economic landscape in which multiple polities of varying complexity participated in overlapping networks of interaction, alliance, and competition within and beyond Olman.

Luminescent multilayers of SiGe nanocrystals embedded in an oxide matrix have been fabricated by Low Pressure Chemical Vapour Deposition of a-SiGe and SiO2 in a single run followed by a Rapid Thermal Annealing treatment. The diameter of the nanoparticles, the oxide interlayer thickness and the annealing conditions have been investigated in order to get the maximum intensity of the luminescence. The structures with small nanoparticles (3-4.5 nm) separated by thick oxide barriers (≈35 nm) annealed at 900 °C for 60 s yield the maximum intensity. These samples exhibit luminescence from 80 K to room temperature. An additional treatment at 450 °C in forming gas further increases the intensity of this luminescence.