ABSTRACT
Armoured dinosaurs are well known for their evolution of specialized tail weapons-paired tail spikes in stegosaurs and heavy tail clubs in advanced ankylosaurs1. Armoured dinosaurs from southern Gondwana are rare and enigmatic, but probably include the earliest branches of Ankylosauria2-4. Here we describe a mostly complete, semi-articulated skeleton of a small (approximately 2 m) armoured dinosaur from the late Cretaceous period of Magallanes in southernmost Chile, a region that is biogeographically related to West Antarctica5. Stegouros elengassen gen. et sp. nov. evolved a large tail weapon unlike any dinosaur: a flat, frond-like structure formed by seven pairs of laterally projecting osteoderms encasing the distal half of the tail. Stegouros shows ankylosaurian cranial characters, but a largely ancestral postcranial skeleton, with some stegosaur-like characters. Phylogenetic analyses placed Stegouros in Ankylosauria; specifically, it is related to Kunbarrasaurus from Australia6 and Antarctopelta from Antarctica7, forming a clade of Gondwanan ankylosaurs that split earliest from all other ankylosaurs. The large osteoderms and specialized tail vertebrae in Antarctopelta suggest that it had a tail weapon similar to Stegouros. We propose a new clade, the Parankylosauria, to include the first ancestor of Stegouros-but not Ankylosaurus-and all descendants of that ancestor.
Subject(s)
Aggression , Dinosaurs/anatomy & histology , Dinosaurs/physiology , Fossils , Tail/anatomy & histology , Tail/physiology , Animals , Antarctic Regions , Chile , Predatory Behavior , SkeletonABSTRACT
In deserts, water has been singled out as the most important factor for choosing where to settle, but trees were likely an important part of the landscape for hunter-gatherers beyond merely constituting an economic resource. Yet, this critical aspect has not been considered archaeologically. Here, we present the results of mapping and radiocarbon dating of a truly unique archaeological record. Over 150 preserved stumps around five Late Pleistocene/Early Holocene archaeological campsites (12,800 to 11,200 cal BP) show that trees were key features in the creation of everyday habitats for the first inhabitants of the Atacama Desert. At two of these sites, QM12 and QM35, the spatial and chronological correlation between trees and hearths reveals that people located their homes under the tree canopy. At residential site QM35, artifact distribution coincides with a grove dated to ~11,600 to 11,200 cal BP. A third residential area (QM32) occurred along the grove margins ~12,000 to 11,200 cal BP. Based on the distinct cultural material of these two camps, we propose that two different groups intermittently shared this rich wetland-grove environment. The tree taxa suggest a preference for the native Schinus molle, a tree scarcely present on the landscape today, over the endemic, nitrogen-fixing Strombocarpa tamarugo, both for toolmaking and firewood and even though the S. tamarugo was locally more abundant. Together with the spatial and chronological coincidence of campsites, hearths, and trees, we propose that people spared the most abundant and resilient species to create their homes, in turn promoting fertility oases amid the Atacama's hyperaridity.
Subject(s)
Archaeology , Desert Climate , Trees , Humans , History, Ancient , Ecosystem , Radiometric Dating , ChileABSTRACT
So far in this century, six very large-magnitude earthquakes (MW ≥ 7.8) have ruptured separate portions of the subduction zone plate boundary of western South America along Ecuador, Peru, and Chile. Each source region had last experienced a very large earthquake from 74 to 261 y earlier. This history led to their designation in advance as seismic gaps with potential to host future large earthquakes. Deployments of geodetic and seismic monitoring instruments in several of the seismic gaps enhanced resolution of the subsequent faulting processes, revealing preevent patterns of geodetic slip deficit accumulation and heterogeneous coseismic slip on the megathrust fault. Localized regions of large slip, or asperities, appear to have influenced variability in how each source region ruptured relative to prior events, as repeated ruptures have had similar, but not identical slip distributions. We consider updated perspectives of seismic gaps, asperities, and geodetic locking to assess current very large earthquake hazard along the South American subduction zone, noting regions of particular concern in northern Ecuador and Colombia (1958/1906 rupture zone), southeastern Peru (southeasternmost 1868 rupture zone), north Chile (1877 rupture zone), and north-central Chile (1922 rupture zone) that have large geodetic slip deficit measurements and long intervals (from 64 to 154 y) since prior large events have struck those regions. Expanded geophysical measurements onshore and offshore in these seismic gaps may provide critical information about the strain cycle and fault stress buildup late in the seismic cycle in advance of the future great earthquakes that will eventually strike each region.
Subject(s)
Earthquakes , Chile , Ecuador , Peru , ColombiaABSTRACT
BACKGROUND: In Santiago, Chile, where typhoid had been hyperendemic (1977-1991), we investigated whether residual chronic carriers could be detected among household contacts of non-travel-related typhoid cases occurring during 2017-2019. METHODS: Culture-confirmed cases were classified as autochthonous (domestically acquired) versus travel/immigration related. Household contacts of cases had stool cultures and serum Vi antibody measurements to detect chronic Salmonella Typhi carriers. Whole genome sequences of acute cases and their epidemiologically linked chronic carrier isolates were compared. RESULTS: Five of 16 autochthonous typhoid cases (31.3%) were linked to 4 chronic carriers in case households; 2 cases (onsets 23 months apart) were linked to the same carrier. Carriers were women aged 69-79 years with gallbladder dysfunction and Typhi fecal excretion; 3 had highly elevated serum anti-Vi titers. Genomic analyses revealed close identity (≤11 core genome single-nucleotide polymorphism [SNP] differences) between case and epidemiologically linked carrier isolates; all were genotypes prevalent in 1980s Santiago. A cluster of 4 additional autochthonous cases unlinked to a carrier was identified based on genomic identity (0-1 SNPs). Travel/immigration isolate genotypes were typical for the countries of travel/immigration. CONCLUSIONS: Although autochthonous typhoid cases in Santiago are currently rare, 5 of 16 such cases (31.3%) were linked to elderly chronic carriers identified among household contacts of cases.
Subject(s)
Carrier State , Salmonella typhi , Typhoid Fever , Humans , Chile/epidemiology , Typhoid Fever/epidemiology , Typhoid Fever/microbiology , Salmonella typhi/genetics , Salmonella typhi/isolation & purification , Female , Aged , Carrier State/epidemiology , Carrier State/microbiology , Male , Middle Aged , Adult , Feces/microbiology , Genotype , Whole Genome Sequencing , Travel , Child , Polymorphism, Single Nucleotide , Child, Preschool , Young Adult , Aged, 80 and over , AdolescentABSTRACT
BACKGROUND: Breast density (BD) is a strong risk factor for breast cancer. Little is known about how BD develops during puberty. Understanding BD trajectories during puberty and its determinants could be crucial for promoting preventive actions against breast cancer (BC) at early ages. The objective of this research is to characterize % fibroglandular volume (%FGV), absolute fibroglandular volume (AFGV), and breast volume (BV) at different breast Tanner stages until 4-year post menarche in a Latino cohort and to assess determinants of high %FGV and AFGV during puberty and in a fully mature breast. METHODS: This is a longitudinal follow-up of 509 girls from low-middle socioeconomic status of the Southeast area of Santiago, recruited at a mean age of 3.5 years. The inclusion criteria were singleton birth born, birthweight between 2500 and 4500 g with no medical or mental disorder. A trained dietitian measured weight and height since 3.5 years old and sexual maturation from 8 years old (breast Tanner stages and age at menarche onset). Using standardized methods, BD was measured using dual-energy X-ray absorptiometry (DXA) in various developmental periods (breast Tanner stage B1 until 4 years after menarche onset). RESULTS: In the 509 girls, we collected 1,442 breast DXA scans; the mean age at Tanner B4 was 11.3 years. %FGV increased across breast Tanner stages and peaked 250 days after menarche. AFGV and BV peaked 2 years after menarche onset. Girls in the highest quartiles of %FGV, AFGV, and BV at Tanner B4 and B5 before menarche onset had the highest values thereafter until 4 years after menarche onset. The most important determinants of %FGV and AFGV variability were BMI z-score (R2 = 44%) and time since menarche (R2 = 42%), respectively. CONCLUSION: We characterize the breast development during puberty, a critical window of susceptibility. Although the onset of menarche is a key milestone for breast development, we observed that girls in the highest quartiles of %FGV and AFGV tracked in that group afterwards. Following these participants in adulthood would be of interest to understand the changes in breast composition during this period and its potential link with BC risk.
Subject(s)
Breast Neoplasms , Female , Humans , Child, Preschool , Child , Cohort Studies , Chile , Puberty , Menarche , ObesityABSTRACT
Whether trace metals modify breast density, the strongest predictor for breast cancer, during critical developmental stages such as puberty remains understudied. Our study prospectively evaluated the association between trace metals at Tanner breast stage B1 (n = 291) and at stages both B1 and B4 (n = 253) and breast density at 2 years post-menarche among Chilean girls from the Growth and Obesity Cohort Study. Dual-energy x-ray absorptiometry assessed the volume of dense breast tissue (absolute fibroglandular volume [FGV]) and percent breast density (%FGV). Urine trace metals included arsenic, barium, cadmium, cobalt, cesium, copper, magnesium, manganese, molybdenum, nickel, lead, antimony, selenium, tin, thallium, vanadium, and zinc. At B1, a doubling of thallium concentration resulted in 13.69 cm3 increase in absolute FGV (ß: 13.69, 95% confidence interval [CI]: 2.81, 24.52), while a doubling of lead concentration resulted in a 7.76 cm3 decrease in absolute FGV (ß: -7.76, 95%CI: -14.71, -0.73). At B4, a doubling of barium concentration was associated with a 10.06 cm3 increase (ß: 10.06, 95% CI: 1.44, 18.60), copper concentration with a 12.29 cm3 increase (ß: 12.29, 95% CI: 2.78, 21.56), lead concentration with a 9.86 cm3 increase (ß: 9.86, 95% CI: 0.73, 18.98), antimony concentration with a 12.97 cm3 increase (ß: 12.97, 95% CI: 1.98, 23.79) and vanadium concentration with a 13.14 cm3 increase in absolute FGV (ß: 13.14, 95% CI: 2.73, 23.58). Trace metals may affect pubertal breast density at varying developmental stages with implications for increased susceptibility for breast cancer.
Subject(s)
Absorptiometry, Photon , Breast Density , Trace Elements , Humans , Female , Chile/epidemiology , Adolescent , Breast Density/drug effects , Trace Elements/analysis , Trace Elements/urine , Prospective Studies , Child , Breast/drug effects , Breast/growth & development , Breast Neoplasms/epidemiologyABSTRACT
AbstractIn the world's highest mountain ranges, uncertainty about the upper elevational range limits of alpine animals represents a critical knowledge gap regarding the environmental limits of life and presents a problem for detecting range shifts in response to climate change. Here we report results of mountaineering mammal surveys in the Central Andes, which led to the discovery of multiple species of mice living at extreme elevations that far surpass previously assumed range limits for mammals. We livetrapped small mammals from ecologically diverse sites spanning >6,700 m of vertical relief, from the desert coast of northern Chile to the summits of the highest volcanoes in the Andes. We used molecular sequence data and whole-genome sequence data to confirm the identities of species that represent new elevational records and to test hypotheses regarding species limits. These discoveries contribute to a new appreciation of the environmental limits of vertebrate life.
Subject(s)
Altitude , Animals , Mice/genetics , Mice/physiology , Chile , Phylogeny , Animal DistributionABSTRACT
BACKGROUND: The safety and efficacy of the AZD1222 (ChAdOx1 nCoV-19) vaccine in a large, diverse population at increased risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in the United States, Chile, and Peru has not been known. METHODS: In this ongoing, double-blind, randomized, placebo-controlled, phase 3 clinical trial, we investigated the safety, vaccine efficacy, and immunogenicity of two doses of AZD1222 as compared with placebo in preventing the onset of symptomatic and severe coronavirus disease 2019 (Covid-19) 15 days or more after the second dose in adults, including older adults, in the United States, Chile, and Peru. RESULTS: A total of 32,451 participants underwent randomization, in a 2:1 ratio, to receive AZD1222 (21,635 participants) or placebo (10,816 participants). AZD1222 was safe, with low incidences of serious and medically attended adverse events and adverse events of special interest; the incidences were similar to those observed in the placebo group. Solicited local and systemic reactions were generally mild or moderate in both groups. Overall estimated vaccine efficacy was 74.0% (95% confidence interval [CI], 65.3 to 80.5; P<0.001) and estimated vaccine efficacy was 83.5% (95% CI, 54.2 to 94.1) in participants 65 years of age or older. High vaccine efficacy was consistent across a range of demographic subgroups. In the fully vaccinated analysis subgroup, no severe or critical symptomatic Covid-19 cases were observed among the 17,662 participants in the AZD1222 group; 8 cases were noted among the 8550 participants in the placebo group (<0.1%). The estimated vaccine efficacy for preventing SARS-CoV-2 infection (nucleocapsid antibody seroconversion) was 64.3% (95% CI, 56.1 to 71.0; P<0.001). SARS-CoV-2 spike protein binding and neutralizing antibodies increased after the first dose and increased further when measured 28 days after the second dose. CONCLUSIONS: AZD1222 was safe and efficacious in preventing symptomatic and severe Covid-19 across diverse populations that included older adults. (Funded by AstraZeneca and others; ClinicalTrials.gov number, NCT04516746.).
Subject(s)
COVID-19/prevention & control , ChAdOx1 nCoV-19 , Vaccine Efficacy , Adolescent , Adult , Aged , Aged, 80 and over , Antibodies, Neutralizing/blood , Antibodies, Viral/blood , COVID-19/epidemiology , ChAdOx1 nCoV-19/adverse effects , Chile/epidemiology , Double-Blind Method , Female , Humans , Immunogenicity, Vaccine , Male , Middle Aged , Peru/epidemiology , SARS-CoV-2/immunology , Spike Glycoprotein, Coronavirus/immunology , United States/epidemiology , Young AdultABSTRACT
BACKGROUND: Mass vaccination campaigns to prevent coronavirus disease 2019 (Covid-19) are occurring in many countries; estimates of vaccine effectiveness are urgently needed to support decision making. A countrywide mass vaccination campaign with the use of an inactivated severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine (CoronaVac) was conducted in Chile starting on February 2, 2021. METHODS: We used a prospective national cohort, including participants 16 years of age or older who were affiliated with the public national health care system, to assess the effectiveness of the inactivated SARS-CoV-2 vaccine with regard to preventing Covid-19 and related hospitalization, admission to the intensive care unit (ICU), and death. We estimated hazard ratios using the extension of the Cox proportional-hazards model, accounting for time-varying vaccination status. We estimated the change in the hazard ratio associated with partial immunization (≥14 days after receipt of the first dose and before receipt of the second dose) and full immunization (≥14 days after receipt of the second dose). Vaccine effectiveness was estimated with adjustment for individual demographic and clinical characteristics. RESULTS: The study was conducted from February 2 through May 1, 2021, and the cohort included approximately 10.2 million persons. Among persons who were fully immunized, the adjusted vaccine effectiveness was 65.9% (95% confidence interval [CI], 65.2 to 66.6) for the prevention of Covid-19 and 87.5% (95% CI, 86.7 to 88.2) for the prevention of hospitalization, 90.3% (95% CI, 89.1 to 91.4) for the prevention of ICU admission, and 86.3% (95% CI, 84.5 to 87.9) for the prevention of Covid-19-related death. CONCLUSIONS: Our results suggest that the inactivated SARS-CoV-2 vaccine effectively prevented Covid-19, including severe disease and death, a finding that is consistent with results of phase 2 trials of the vaccine. (Funded by Agencia Nacional de Investigación y Desarrollo and others.).
Subject(s)
COVID-19 Vaccines/immunology , COVID-19/prevention & control , Immunogenicity, Vaccine , Mass Vaccination , Adolescent , Adult , Aged , Aged, 80 and over , COVID-19/epidemiology , COVID-19/mortality , Chile/epidemiology , Female , Hospitalization/statistics & numerical data , Humans , Incidence , Intensive Care Units , Male , Middle Aged , Patient Acuity , Prospective Studies , Treatment Outcome , Vaccines, Inactivated , Young AdultABSTRACT
Global change drivers are imposing novel conditions on Earth's ecosystems at an unprecedented rate. Among them, biological invasions and climate change are of critical concern. It is generally thought that strictly asexual populations will be more susceptible to rapid environmental alterations due to their lack of genetic variability and, thus, of adaptive responses. In this study, we evaluated the persistence of a widely distributed asexual lineage of the alfalfa race of the pea aphid, Acyrthosiphon pisum, along a latitudinal transect of approximately 600 km in central Chile after facing environmental change for a decade. Based on microsatellite markers, we found an almost total replacement of the original aphid superclone by a new variant. Considering the unprecedented warming that this region has experienced in recent years, we experimentally evaluated the reproductive performance of these two A. pisum lineages at different thermal regimes. The new variant exhibits higher rates of population increase at warmer temperatures, and computer simulations employing a representative temperature dataset suggest that it might competitively displace the original superclone. These results support the idea of a superclone turnover mediated by differential reproductive performance under changing temperatures.
Subject(s)
Aphids , Pisum sativum , Animals , Aphids/physiology , Ecosystem , Chile , ReproductionABSTRACT
MAIN CONCLUSIONS: In contrast to Neltuma species, S. tamarugo exhibited higher stress tolerance, maintaining photosynthetic performance through enhanced gene expression and metabolites. Differentially accumulated metabolites include chlorophyll and carotenoids and accumulation of non-nitrogen osmoprotectants. Plant species have developed different adaptive strategies to live under extreme environmental conditions. Hypothetically, extremophyte species present a unique configuration of physiological functions that prioritize stress-tolerance mechanisms while carefully managing resource allocation for photosynthesis. This could be particularly challenging under a multi-stress environment, where the synthesis of multiple and sequential molecular mechanisms is induced. We explored this hypothesis in three phylogenetically related woody species co-occurring in the Atacama Desert, Strombocarpa tamarugo, Neltuma alba, and Neltuma chilensis, by analyzing their leaf dehydration and freezing tolerance and by characterizing their photosynthetic performance under natural growth conditions. Besides, the transcriptomic profiling, biochemical analyses of leaf pigments, and metabolite analysis by untargeted metabolomics were conducted to study gene expression and metabolomic landscape within this challenging multi-stress environment. S. tamarugo showed a higher photosynthetic capacity and leaf stress tolerance than the other species. In this species, a multifactorial response was observed, which involves high photochemical activity associated with a higher content of chlorophylls and ß-carotene. The oxidative damage of the photosynthetic apparatus is probably attenuated by the synthesis of complex antioxidant molecules in the three species, but S. tamarugo showed the highest antioxidant capacity. Comparative transcriptomic and metabolomic analyses among the species showed the differential expression of genes involved in the biosynthetic pathways of key stress-related metabolites. Moreover, the synthesis of non-nitrogen osmoprotectant molecules, such as ciceritol and mannitol in S. tamarugo, would allow the nitrogen allocation to support its high photosynthetic capacity without compromising leaf dehydration tolerance and freezing stress avoidance.
Subject(s)
Desert Climate , Photosynthesis , Stress, Physiological , Transcriptome , Photosynthesis/genetics , Stress, Physiological/genetics , Chlorophyll/metabolism , Metabolomics , Plant Leaves/metabolism , Plant Leaves/genetics , Plant Leaves/physiology , Gene Expression Regulation, Plant , Gene Expression Profiling , Carotenoids/metabolism , Metabolome/genetics , ChileABSTRACT
The best ideotypes are under mounting pressure due to increased aridity. Understanding the conserved molecular mechanisms that evolve in wild plants adapted to harsh environments is crucial in developing new strategies for agriculture. Yet our knowledge of such mechanisms in wild species is scant. We performed metabolic pathway reconstruction using transcriptome information from 32 Atacama and phylogenetically related species that do not live in Atacama (sister species). We analyzed reaction enrichment to understand the commonalities and differences of Atacama plants. To gain insights into the mechanisms that ensure survival, we compared expressed gene isoform numbers and gene expression patterns between the annotated biochemical reactions from 32 Atacama and sister species. We found biochemical convergences characterized by reactions enriched in at least 50% of the Atacama species, pointing to potential advantages against drought and nitrogen starvation, for instance. These findings suggest that the adaptation in the Atacama Desert may result in part from shared genetic legacies governing the expression of key metabolic pathways to face harsh conditions. Enriched reactions corresponded to ubiquitous compounds common to extreme and agronomic species and were congruent with our previous metabolomic analyses. Convergent adaptive traits offer promising candidates for improving abiotic stress resilience in crop species.
Subject(s)
Desert Climate , Phylogeny , Transcriptome , Chile , Adaptation, Physiological , Metabolic Networks and PathwaysABSTRACT
Soils in hyper-arid climates, such as the Chilean Atacama Desert, show indications of past and present forms of life despite extreme water limitations. We hypothesize that fog plays a key role in sustaining life. In particular, we assume that fog water is incorporated into soil nutrient cycles, with the inland limit of fog penetration corresponding to the threshold for biological cycling of soil phosphorus (P). We collected topsoil samples (0-10 cm) from each of 54 subsites, including sites in direct adjacency (<10 cm) and in 1 m distance to plants, along an aridity gradient across the Coastal Cordillera. Satellite-based fog detection revealed that Pacific fog penetrates up to 10 km inland, while inland sites at 10-23 km from the coast rely solely on sporadic rainfall for water supply. To assess biological P cycling we performed sequential P fractionation and determined oxygen isotope of HCl-extractable inorganic P δ 18 O HCl - P i $$ \mathrm{P}\ \left({\updelta}^{18}{\mathrm{O}}_{\mathrm{HCl}-{\mathrm{P}}_{\mathrm{i}}}\right) $$ . Total P (Pt ) concentration exponentially increased from 336 mg kg-1 to a maximum of 1021 mg kg-1 in inland areas ≥10 km. With increasing distance from the coast, soil δ 18 O HCl - P i $$ {\updelta}^{18}{\mathrm{O}}_{\mathrm{HCl}-{\mathrm{P}}_{\mathrm{i}}} $$ values declined exponentially from 16.6 to a constant 9.9 for locations ≥10 km inland. Biological cycling of HCl-Pi near the coast reached a maximum of 76%-100%, which could only be explained by the fact that fog water predominately drives biological P cycling. In inland regions, with minimal rainfall (<5 mm) as single water source, only 24 ± 14% of HCl-Pi was biologically cycled. We conclude that biological P cycling in the hyper-arid Atacama Desert is not exclusively but mainly mediated by fog, which thus controls apatite dissolution rates and related occurrence and spread of microbial life in this extreme environment.
Subject(s)
Phosphorus , Soil , Oxygen Isotopes , Water , Chile , Desert ClimateABSTRACT
The hadopelagic environment remains highly understudied due to the inherent difficulties in sampling at these depths. The use of sediment environmental DNA (eDNA) can overcome some of these restrictions as settled and preserved DNA represent an archive of the biological communities. We use sediment eDNA to assess changes in the community within one of the world's most productive open-ocean ecosystems: the Atacama Trench. The ecosystems around the Atacama Trench have been intensively fished and are affected by climate oscillations, but the understanding of potential impacts on the marine community is limited. We sampled five sites using sediment cores at water depths from 2400 to ~8000 m. The chronologies of the sedimentary record were determined using 210Pbex. Environmental DNA was extracted from core slices and metabarcoding was used to identify the eukaryote community using two separate primer pairs for different sections of the 18S rRNA gene (V9 and V7) effectively targeting pelagic taxa. The reconstructed communities were similar among markers and mainly composed of chordates and members of the Chromista kingdom. Alpha diversity was estimated for all sites in intervals of 15 years (from 1842 to 2018), showing a severe drop in biodiversity from 1970 to 1985 that aligns with one of the strongest known El Niño events and extensive fishing efforts during the time. We find a direct impact of sea surface temperature on the community composition over time. Fish and cnidarian read abundance was examined separately to determine whether fishing had a direct impact, but no direct relation was found. These results demonstrate that sediment eDNA can be a valuable emerging tool providing insight in historical perspectives on ecosystem developments. This study constitutes an important step toward an improved understanding of the importance of environmental and anthropogenic drivers in affecting open and deep ocean communities.
Subject(s)
Biodiversity , DNA, Environmental , Ecosystem , Geologic Sediments , RNA, Ribosomal, 18S , Geologic Sediments/analysis , DNA, Environmental/analysis , RNA, Ribosomal, 18S/genetics , Chile , Animals , DNA Barcoding, Taxonomic , Eukaryota/genetics , Aquatic Organisms/geneticsABSTRACT
Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases encompass a range of clinical presentations, highlighting the phenotypic variability within SCA19 from an early-onset, severe disease to a late-onset, slowly progressive condition with normal lifespan. While some patients present with pure ataxia, others also show cognitive impairment, dystonia, and other neurological symptoms. The correlations between specific KCND3 variants and phenotypic outcomes are complex and warrant further investigation. As the genomic landscape of spinocerebellar ataxias evolves, comprehensive genetic testing is becoming pivotal in improving diagnostic accuracy. This study contributes to a better understanding of the clinical spectrum of SCA19, laying the groundwork for further genotype-phenotype correlations and functional studies to elucidate the underlying pathophysiology.
Subject(s)
Phenotype , Humans , Male , Female , Middle Aged , Adult , Mexico/epidemiology , Chile/epidemiology , Aged , Spinocerebellar Degenerations/genetics , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/epidemiologyABSTRACT
In Chile, there are no validated instruments for the evaluation of quality of life (QoL) of people with Down syndrome (DS). To analyze construct validity and reliability of the KidsLife-Down scale in Chile to measure QoL in people with DS aged from 4 to 21 years. Families of boys, girls, and young people with DS between 4 and 21 years were invited to participate. The scale was answered by relatives or caregivers. To assess the internal consistency, reliability tests were performed using Cronbach's alpha coefficient. A confirmatory factor analysis was performed. The scale was answered by 531 relatives or caregivers. Cronbach's coefficient was greater than 0.7 in all the items. The confirmatory factor analysis of the scale allowed its validation for clinical use in the Chilean population. "Kids Life Down-Chile" scale has adequate psychometric properties to be used in clinical practice and to help us improve QoL with better support strategies.
Subject(s)
Down Syndrome , Quality of Life , Male , Child , Female , Humans , Adolescent , Chile/epidemiology , Down Syndrome/epidemiology , Reproducibility of Results , Caregivers , Psychometrics , Surveys and QuestionnairesABSTRACT
Testosterone plays an important role as a social hormone. Current evidence suggests that testosterone is positively related to sociosexuality increasing the psychological attitudes toward investing in short-term versus long-term mating and promotes status-seeking behaviors both by dominance and prestige. In addition, the social environment may play an important role in the expression of mating effort through changes in sociosexuality and status-seeking behaviors. However, the causal relationships among the mentioned variables are still debated. We employed a double-blind, placebo-controlled within-individual design, in order to test and integrate the proposed causal relationships between testosterone and social environment over short-term and long-term mating orientation and dominant and prestigious status-seeking behaviors in a sample of 95 young Chilean men. We did not find evidence that the administration of exogenous testosterone increased short-term or decreased long-term mating orientation as expected. Moreover, exogenous testosterone did not affect either aggressive or cooperative behavior failing to support the social status hypothesis. We also did not find any relationship between short or long-term mating orientation with status-seeking behaviors. Finally, we found support for the effect of social environment on sociosexual attitudes but not over status-seeking behaviors. Thus, men reported higher levels of short-term mating orientation in the presence of a woman compared to a man and no differences were found for long-term mating orientation. We argue that sociosexuality may be expressed flexibly, but contextual factors such as the presence of women seem more important than changes in testosterone levels.
Subject(s)
Social Environment , Testosterone , Adolescent , Adult , Female , Humans , Male , Young Adult , Chile , Double-Blind Method , Sexual Behavior/physiology , Sexual Behavior/psychology , Social Behavior , Social DominanceABSTRACT
In Chile, as in the rest of the world, only a small fraction of the fungal diversity inhabiting the wide variety of its ecosystems is known. This diversity must hide an inestimable richness of species with interesting biotechnological potential, including fungal pigment producers. Recently, interest in filamentous fungi has increased significantly due to their importance as alternative sources of pigments and colorants that are environmentally and human health friendly. As a result, fungal pigments are gaining importance in various industrial applications, such as food, textiles, pharmaceuticals, cosmetics, etc. The increasing consumer demand for "green label" natural colorants requires the exploration of different ecosystems in search of new fungal species that are efficient producers of different pigment with a wide range of colors and ideally without the co-production of mycotoxins. However, advances are also needed in pigment production processes through fermentation, scale-up from laboratory to industrial scale, and final product formulation and marketing. In this respect, the journey is still full of challenges for scientists and entrepreneurs. This chapter describes studies on pigment-producing fungi collected in the forests of central-southern Chile. Aspects such as the exploration of potential candidates as sources of extracellular pigments, the optimization of pigment production by submerged fermentation, methods of pigment extraction and purification for subsequent chemical characterization, and formulation (by microencapsulation) for potential cosmetic applications are highlighted. This potential use is due to the outstanding bioactivity of most fungal pigments, making them interesting functional ingredients for many applications. Finally, the use of fungal pigments for textile and spalting applications is discussed.
Subject(s)
Forests , Fungi , Pigments, Biological , Pigments, Biological/biosynthesis , Pigments, Biological/chemistry , Chile , Fungi/metabolism , Fungi/genetics , Fungi/classification , FermentationABSTRACT
INTRODUCTION: Systemic lupus erythematosus (SLE) causes kidney compromise in up to 40% of patients, contributing significantly to morbidity. Lupus nephritis (LN), an early onset manifestation in most patients, is histologically classified into six types, with types III, IV, and V requiring treatment with induction therapies, usually glucocorticoids with mycophenolate mofetil (MMF) or intravenous cyclophosphamide (IVC). However, up to 60% of patients fail to achieve complete remission, and 27%-66% have subsequent flares. There is scarce literature on the superiority of IVC or MMF in the Latin population. METHODOLOGY: A retrospective cohort study of 72 LN patients at a high-complexity hospital in Chile between 2016 and 2021 was conducted. Demographics, urine studies, creatinine levels, complement levels, antibody profiles, biopsy results, and response to treatment were analysed. RESULTS: The median age of the cohort was 29 years, with women representing 90% of patients. At diagnosis, 87.5% of the patients presented with proteinuria, 55% had haematuria, and 49% had acute kidney injury. The most common LN type was type IV. For induction therapy, half of the patients were treated with IVC, and the other half with MMF. The response to treatment did not differ significantly between the two. DISCUSSION: This is one of the few studies to focus on the Latin American population, specifically Chile. These results are consistent with the current understanding of LN treatment. Despite its limitations, this study provides valuable insights into the treatment effectiveness of IVC and MMF in this population. CONCLUSION: This study did not find significant differences in the clinical response to IVC or MMF at 6 months. Future prospective studies are required to determine the optimal induction therapy for LN, especially in Latin populations.
Subject(s)
Cyclophosphamide , Glucocorticoids , Immunosuppressive Agents , Lupus Nephritis , Mycophenolic Acid , Humans , Lupus Nephritis/drug therapy , Chile/epidemiology , Female , Adult , Retrospective Studies , Male , Cyclophosphamide/therapeutic use , Immunosuppressive Agents/therapeutic use , Mycophenolic Acid/therapeutic use , Glucocorticoids/therapeutic use , Young Adult , Middle Aged , Treatment Outcome , Remission Induction , AdolescentABSTRACT
Strain LB-N7T, a novel Gram-negative, orange, translucent, gliding, rod-shaped bacterium, was isolated from water samples collected from an open system of Atlantic salmon (Salmo salar) smolts in a fish farm in Chile during a flavobacterial infection outbreak in 2015. Phylogenetic analysis based on 16S rRNA sequences (1337 bp) revealed that strain LB-N7T belongs to the genus Flavobacterium and is closely related to the type strains Flavobacterium ardleyense A2-1T (98.8â%) and Flavobacterium cucumis R2A45-3T (96.75â%). The genome size of strain LB-N7T was 2.93 Mb with a DNA G+C content 32.6 mol%. Genome comparisons grouped strain LB-N7T with Flavobacterium cheniae NJ-26T, Flavobacterium odoriferum HXWNR29T, Flavobacterium lacisediminis TH16-21T and Flavobacterium celericrescens TWA-26T. The calculated digital DNA-DNA hybridization values between strain LB-N7T and the closest related Flavobacterium strains were 23.3â% and the average nucleotide identity values ranged from 71.52 to 79.39â%. Menaquinone MK-6 was the predominant respiratory quinone, followed by MK-7. The major fatty acids were iso-C15â:â0 and anteiso-C15â:â0. The primary polar lipids detected included nine unidentified lipids, two amounts of aminopospholipid and phospholipids, and a smaller amount of aminolipid. Phenotypic, genomic, and chemotaxonomic data suggest that strain LB-N7T (=CECT 30406T=RGM 3221T) represents as a novel bacterial species, for which the name Flavobacterium psychraquaticum sp. nov. is proposed.