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1.
Artigo em Inglês | MEDLINE | ID: mdl-38387856

RESUMO

The authors present a case report of a 73-year-old male on dual antiplatelet therapy with a retropharyngeal hematoma after a motor vehicle accident. We highlight the clinical, radiographic manifestations, and surgical management of retropharyngeal hematomas, especially on an initially asymptomatic patient. Additionally, we demonstrate the importance of establishing a secure airway early on, and multidisciplinary collaboration to maximize patient outcomes.

2.
Rev. chil. nutr ; 51(1)feb. 2024.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1550802

RESUMO

La literatura ha hecho hincapié en la centralidad que cumplen los entornos alimentarios en las elecciones alimentarias y en el estado nutricional de la población. Objetivo: identificar las percepciones de padres, madres y apoderados, profesionales de establecimientos educacionales, funcionarios municipales, y feriantes pertenecientes a la zona sur de Santiago de Chile, respecto a las barreras y limitaciones de la puesta en práctica de una alimentación saludable en el ambiente alimentario escolar. Método: se realizaron seis grupos focales agrupando a 50 actores claves vinculados a los establecimientos educacionales de Ciudad Sur utilizando una muestra no probabilística. Se aplicó un análisis de contenido mediante la técnica de codificación temática buscando relevar los universos semánticos emergentes. Resultados: se identificaron nueve barreras, o semánticas, que caracterizan limitantes a la realización de la alimentación saludable en los entornos escolares desde la perspectiva de los participantes: la familia, kioscos escolares, la salida de los establecimientos escolares, gusto, determinantes socioeconómicos, política pública, falta de conocimiento, publicidad y disponibilidad de productos sin sellos. Conclusiones: las limitaciones asociadas al ambiente alimentario doméstico tienen una representación significativamente alta (47,9%) y contienen un carácter de responsabilización individual en su enunciación. Esta cultura explicativa es opuesta a la evidencia científica y académica respecto al funcionamiento de la conducta alimentaria, y a la centralidad de los ambientes alimentarios respecto a la facilitación u obstaculización del consumo de alimentos saludables o adecuados.


Literature has emphasized on food environments centrality in food choices and nutritional status. Objective: identify social perceptions of fathers, mothers and guardians, professionals from educational establishments, municipal officials, and stallholders belonging to the southern area of Santiago de Chile, regarding limitations of healthy diet implementation on school environments. Method: six focus groups were carried out grouping 50 key actors linked to educational establishments using a non-probabilistic sample. A content analysis was applied through thematic coding technique seeking to reveal emerging semantic universes. Results: Nine barriers, or semantics, were identified characterizing limitations to healthy eating habits in school environments: family, school kiosks, leaving school establishments, taste, socioeconomic determinants, public policy, lack of knowledge, publicity, and availability of products without seals. Conclusions: limitations associated with domestic food environment have a significantly high representation (47,9%) and contain an individualized responsibility feature. This explanatory culture is opposed to scientific and academic evidence regarding the functioning of eating behavior, and the centrality of food environments facilitating or hindering healthy food consumption.

3.
Insects ; 15(2)2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38392516

RESUMO

The converse Bergmann's rule is a pattern of body size variation observed in many ectothermic organisms that contradicts the classic Bergmann's rule and suggests that individuals inhabiting warmer climates tend to exhibit larger body sizes compared to those inhabiting colder environments. Due to the thermoregulatory nature of Bergmann's rule, its application among ectotherms might prove to be more complicated, given that these organisms obtain heat by absorbing it from their habitat. The existence of this inverse pattern therefore challenges the prevailing notion that larger body size is universally advantageous in colder climates. Ceroglossus chilensis is a native Chilean beetle that has the largest latitudinal range of any species in the genus, from 34.3° S to 47.8° S. Within Chile, it continuously inhabits regions extending from Maule to Aysen, thriving on both native and non-native forest species. Beyond their remarkable color variation, populations of C. chilensis show minimal morphological disparity, noticeable only through advanced morphological techniques (geometric morphometrics). Based on both (1) the "temperature-size rule", which suggests that body size decreases with increasing temperature, and (2) the reduced resource availability in high-latitude environments that may lead to smaller body sizes, we predict that C. chilensis populations will follow the converse Bergmann's rule. Our results show a clear converse pattern to the normal Bergmann rule, where smaller centroid sizes were found to be measured in the specimens inhabiting the southern areas of Chile. Understanding the prevalence of the converse Bergmann's rule for ectotherm animals and how often this rule is broken is of utmost importance to understand the underlying mechanisms allowing organisms to adapt to different environments and the selective pressures they face.

4.
Artigo em Inglês | MEDLINE | ID: mdl-38199293

RESUMO

OBJECTIVE: To describe clinical, functional, surgical, and outcomes data in pediatric patients with a myocardial bridge (MB) evaluated and managed following a standardized approach. METHODS: Prospective observational study included patients evaluated in the Coronary Artery Anomalies Program. Anatomy was determined by computed tomography angiography, myocardial perfusion by stress perfusion imaging, and coronary hemodynamic assessment by cardiac catheterization. RESULTS: In total, 39 of 42 patients with a complete evaluation for MB were included (December 2012 to June 2022) at a median age of 14.1 years (interquartile range, 12.2-16.4). Sudden cardiac arrest occurred in 3 of 39 (8%), exertional symptoms in 14 (36%), and no/nonspecific symptoms in 7 (18%) patients. Exercise stress test was abnormal in 3 of 34 (9%), stress perfusion imaging in 8 of 34 (24%), and resting instantaneous wave-free ratio ≤0.89 or diastolic dobutamine fractional flow reserve ≤0.80 in 11 of 21 (52%) patients. As a result, 15 of 39 (38%) patients were determined to have hemodynamically significant MB, 1 of 15 patients started beta-blocker, and 14 of 15 were referred for surgery. Myotomy (n = 11) and coronary bypass (n = 1) were performed successfully, resulting in improved symptoms and stress testing results. One patient required pericardiocentesis postoperatively, and all were discharged without other complications. At median follow-up time of 2.9 (1.8-5.8) years, all (except 2 pending surgery) were doing well without exercise restriction. CONCLUSIONS: Pediatric patients with MB can present with myocardial ischemia and sudden cardiac arrest. Provocative stress test and intracoronary hemodynamic tests helped risk-stratify symptomatic patients with MB and concern for ischemia. Surgical repair was safe and effective in mitigating exertional symptoms and stress test results, allowing patients to return to exercise without restriction.

5.
bioRxiv ; 2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38260543

RESUMO

The C4 photosynthetic pathway provided a major advantage to plants growing in hot, dry environments, including the ancestors of our most productive crops. Two traits were essential for the evolution of this pathway: increased vein density and the functionalization of bundle sheath cells for photosynthesis. Although GRAS transcriptional regulators, including SHORT ROOT (SHR), have been implicated in mediating leaf patterning in both C3 and C4 species, little is known about what controls the specialized features of the cells that mediate C4 metabolism and physiology. We show in the model monocot, Setaria viridis, that SHR regulates components of multiple cell identities, including chloroplast biogenesis and photosynthetic gene expression in bundle sheath cells, a central feature of C4 plants. Furthermore, we found that it also contributes to the two-cell compartmentalization of the characteristic four-carbon shuttle pathway. Disruption of SHR function clearly reduced photosynthetic capacity and seed yield in mutant plants under heat stress. Together, these results show how cell identities are remodeled by SHR to host the suite of traits characteristic of C4 regulation, which are a main engineering target in non-C4 crops to improve climate resilience.

6.
Gastroenterology ; 166(3): 537-538, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38061474
7.
Trop Anim Health Prod ; 55(5): 346, 2023 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-37792078

RESUMO

The objective of this study was to evaluate the effect of dehydrated orange by-product on the productive parameters, carcass yield, and meat quality of rabbits in the fattening stage. Four diets with increasing levels of orange by-products (0%, 10%, 20%, and 30%) were evaluated, each with six replicates of two 32-day-old crossbred rabbits that were randomly allocated. The experimental period was from 32 to 70 days of age of the rabbits. A higher weight gain (p < 0.05) was achieved for observed with 20% substitution, along with a better feed conversion, without any effects on carcass yield and meat quality parameters. The treatment with 30% citrus pulp showed no differences (p > 0.05) in the parameters evaluated. Based on our results, dehydrated orange by-product can replace up to 30% of the commercial feed concentrate without affecting performance, yield, and carcass quality in rabbits feeding since 32 to 72 days of age.


Assuntos
Citrus , Animais , Coelhos , Carne , Aumento de Peso
8.
MicroPubl Biol ; 20232023.
Artigo em Inglês | MEDLINE | ID: mdl-37799205

RESUMO

Regeneration is the ability to functionally replace significant amounts of lost tissue or whole appendages like arms, limbs or tentacles. The amount of tissue that can be regenerated varies among species, but regeneration is found in both invertebrate and vertebrate animals. Cephalopods have been broadly reported in the literature to regenerate their arms. There are over 800 species of Cephalopod; however, regeneration has only been documented in the literature in a few species (1). Here we compare arm regeneration in two species of cephalopod, the Octopus bimaculoides and the hummingbird bobtail squid Euprymna berryi.

10.
J Biomol Struct Dyn ; : 1-10, 2023 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-37705289

RESUMO

Hepatocellular carcinoma is one of the top causes of cancer-related death globally. SIRT3 belongs to the Sirtuin family of proteins, a collection of NAD+-dependent enzymes that play a role in controlling several cellular functions, including metabolism, aging, and stress response. SIRT3 expression has been discovered to be often downregulated in HCC tissues relative to normal liver tissues. Hence, SIRT3 may function as a tumor suppressor in HCC. In the present study, pharmacophore-based virtual screening of a small molecule database was performed initially, and then the screened hits were docked to the active site of SIRT3 to choose the best binding modes. One co-crystal ligand (PDB name: 1NQ) was utilized as a template to generate pharmacophore model query. A total of 0.2 million compounds from the VITAS-M Lab database were downloaded and prepared for virtual screening. Following database preparation, ligand-based virtual screening was performed using the pharmacophore query model generated in the previous phase. The compounds with the same pharmacophoric characteristics as the query at the same distance were screened. There were a total of 74 hits that matched the query model. These compounds were then docked to the SIRT3 using the standard precision protocol of the glide tool. To select hits with high binding affinities, a threshold of -8 kcal/mol was used. Based on the glide gscore, two hits were chosen. These two hits were selected to investigate the stability of the protein-ligand complex by molecular dynamics simulation. All of these findings indicate that the selected hit compounds C1 and C2 can serve as lead compounds in inhibiting the biological activity of SIRT3 requiring further detailed investigations.Communicated by Ramaswamy H. Sarma.

11.
Mol Phylogenet Evol ; 189: 107932, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37751827

RESUMO

Diplomystidae is an early-diverged family of freshwater catfish endemic to southern South America. We have recently collected five juvenile specimens belonging to this family from the Bueno River Basin, a basin which the only previous record was a single juvenile specimen collected in 1996. This finding confirms the distribution of the family further South in northern Patagonia, but poses new questions about the origin of this population in an area with a strong glacial history. We used phylogenetic analyses to evaluate three different hypotheses that could explain the origin of this population in the basin. First, the population could have originated in Atlantic basins (East of the Andes) and dispersed to the Bueno Basin after the Last Glacial Maximum (LGM) via river reversals, as it has been proposed for other population of Diplomystes as well as for other freshwater species from Patagonia. Second, the population could have originated in the geographically close Valdivia Basin (West of the Andes) and dispersed south to its current location in the Bueno Basin. Third, regardless of its geographic origin (West or East of the Andes), the Bueno Basin population could have a longer history in the basin, surviving in situ through the LGM. In addition, we conducted species delimitation analyses using a recently developed method that uses a protracted model of speciation. Our goal was to test the species status of the Bueno Basin population along with another controversial population in Central Chile (Biobío Basin), which appeared highly divergent in previous studies with mtDNA. The phylogenetic analyses showed that the population from the Bueno Basin is more related to Atlantic than to Pacific lineages, although with a deep divergence that predated the LGM, supporting in situ survival rather than postglacial dispersal. In addition, these analyses also showed that the species D. nahuelbutaensis is polyphyletic, supporting the need for a taxonomic reevaluation. The species delimitation analyses supported two new species which are described using molecular diagnostic characters: Diplomystes arratiae sp. nov. from the Biobío, Carampangue, and Laraquete basins, maintaining D. nahuelbutaensis valid only for the Imperial Basin, and Diplomystes habitae sp. nov. from the Bueno Basin. This study greatly increases the number of species within both the family Diplomystidae and Patagonia, and contributes substantially to the knowledge of the evolution of southern South American freshwater biodiversity during its glacial history. Given the important contribution to the phylogenetic diversity of the family, we recommend a high conservation priority for both new species. Finally, this study highlights an exemplary scenario where species descriptions based only on DNA data are particularly valuable, bringing additional elements to the ongoing debate on DNA-based taxonomy.


Assuntos
Peixes-Gato , Animais , Filogenia , Peixes-Gato/genética , Chile , DNA Mitocondrial/genética , Filogeografia , Variação Genética
13.
PLoS One ; 18(8): e0281277, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37594978

RESUMO

Microbial communities in terrestrial geothermal systems often contain chemolithoautotrophs with well-characterized distributions and metabolic capabilities. However, the extent to which organic matter produced by these chemolithoautotrophs supports heterotrophs remains largely unknown. Here we compared the abundance and activity of peptidases and carbohydrate active enzymes (CAZymes) that are predicted to be extracellular identified in metagenomic assemblies from 63 springs in the Central American and the Andean convergent margin (Argentinian backarc of the Central Volcanic Zone), as well as the plume-influenced spreading center in Iceland. All assemblies contain two orders of magnitude more peptidases than CAZymes, suggesting that the microorganisms more often use proteins for their carbon and/or nitrogen acquisition instead of complex sugars. The CAZy families in highest abundance are GH23 and CBM50, and the most abundant peptidase families are M23 and C26, all four of which degrade peptidoglycan found in bacterial cells. This implies that the heterotrophic community relies on autochthonous dead cell biomass, rather than allochthonous plant matter, for organic material. Enzymes involved in the degradation of cyanobacterial- and algal-derived compounds are in lower abundance at every site, with volcanic sites having more enzymes degrading cyanobacterial compounds and non-volcanic sites having more enzymes degrading algal compounds. Activity assays showed that many of these enzyme classes are active in these samples. High temperature sites (> 80°C) had similar extracellular carbon-degrading enzymes regardless of their province, suggesting a less well-developed population of secondary consumers at these sites, possibly connected with the limited extent of the subsurface biosphere in these high temperature sites. We conclude that in < 80°C springs, chemolithoautotrophic production supports heterotrophs capable of degrading a wide range of organic compounds that do not vary by geological province, even though the taxonomic and respiratory repertoire of chemolithoautotrophs and heterotrophs differ greatly across these regions.

14.
Gut ; 72(10): 1971-1984, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37541771

RESUMO

OBJECTIVE: Exhausted T cells with limited effector function are enriched in chronic hepatitis B and C virus (HBV and HCV) infection. Metabolic regulation contributes to exhaustion, but it remains unclear how metabolism relates to different exhaustion states, is impacted by antiviral therapy, and if metabolic checkpoints regulate dysfunction. DESIGN: Metabolic state, exhaustion and transcriptome of virus-specific CD8+ T cells from chronic HBV-infected (n=31) and HCV-infected patients (n=52) were determined ex vivo and during direct-acting antiviral (DAA) therapy. Metabolic flux and metabolic checkpoints were tested in vitro. Intrahepatic virus-specific CD8+ T cells were analysed by scRNA-Seq in a HBV-replicating murine in vivo model of acute and chronic infection. RESULTS: HBV-specific (core18-27, polymerase455-463) and HCV-specific (NS31073-1081, NS31406-1415, NS5B2594-2602) CD8+ T cell responses exhibit heterogeneous metabolic profiles connected to their exhaustion states. The metabolic state was connected to the exhaustion profile rather than the aetiology of infection. Mitochondrial impairment despite intact glucose uptake was prominent in severely exhausted T cells linked to elevated liver inflammation in chronic HCV infection and in HBV polymerase455-463 -specific CD8+ T cell responses. In contrast, relative metabolic fitness was observed in HBeAg-negative HBV infection in HBV core18-27-specific responses. DAA therapy partially improved mitochondrial programmes in severely exhausted HCV-specific T cells and enriched metabolically fit precursors. We identified enolase as a metabolic checkpoint in exhausted T cells. Metabolic bypassing improved glycolysis and T cell effector function. Similarly, enolase deficiency was observed in intrahepatic HBV-specific CD8+ T cells in a murine model of chronic infection. CONCLUSION: Metabolism of HBV-specific and HCV-specific T cells is strongly connected to their exhaustion severity. Our results highlight enolase as metabolic regulator of severely exhausted T cells. They connect differential bioenergetic fitness with distinct exhaustion subtypes and varying liver disease, with implications for therapeutic strategies.


Assuntos
Hepatite B Crônica , Hepatite C Crônica , Hepatite C , Humanos , Animais , Camundongos , Linfócitos T CD8-Positivos/metabolismo , Antivirais/uso terapêutico , Infecção Persistente , Hepatite C Crônica/tratamento farmacológico , Hepatite B Crônica/tratamento farmacológico , Hepatite B Crônica/metabolismo , Hepatite C/tratamento farmacológico , Vírus de Hepatite , Vírus da Hepatite B
15.
Prev Vet Med ; 218: 105979, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37544080

RESUMO

In Paraguay, whose main economic activity is cattle raising, bovine brucellosis is an endemic disease. Between May 2019 and October 2020, a national prevalence survey was implemented by the Paraguayan Veterinary Services. In the frame of that survey, a cross-sectional study was conducted in the eastern region of Paraguay to identify the risk factors that could be associated with brucellosis-positive farms and to estimate the bovine brucellosis seroprevalence and farmers' awareness about the disease. A questionnaire was administered to farmers to collect data on potential risk factors for bovine brucellosis as well as awareness on the disease. A logistic regression model was used to identify the risk factors associated with a farm brucellosis positive status. Blood samples were collected from 2551 cattle on 133 farms. The overall apparent seroprevalence was 27.8 % (95 % CI: 20.4-36.3 %) at the farm level, and 5.5 % (95 % CI: 4.7-6.5 %) at the animal level. Among 18 potential risk factors, four were associated with a farm brucellosis positive status. Farm size was associated with a higher risk of positive status in medium (20-80 cows) and large farms (>80 cows), compared with small farms (<20 cows). Barn disinfection had a protective effect on the risk of positive status. Conversely, presence of dogs and not incinerating/burying aborted material increased this risk. Even if 89 % of the farmers acknowledged being aware of the bovine brucellosis transmission to humans, only 46% of these farmers declared using protective gloves during calving or when handling abortions. The findings of this study emphasize the importance of implementing biosecurity measures and proper disposal of aborted material to control the disease. Therefore, to control the disease in Paraguay, vaccination campaigns should be accompanied by awareness campaigns addressing good farm management practices to minimize the risk of introduction and maintenance of brucellosis as well as the risk of human infection.

16.
Biomater Adv ; 153: 213525, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37352744

RESUMO

The upsurge of bacterial resistance to conventional antibiotics turned a well-recognized public health threat. The need of developing new biomaterials of effective practical use in order to tackle bacterial resistance became urgent. In this study, a submicrometric bioparticle of known antibacterial activity was produced in powder form with suitable texture and appealing characteristics for effective oral administration. Through complex coacervating a natural-source antimicrobial polypeptide with chitosan-N-arginine and alginate, the bioactive polypeptide was physically incorporated to the bioparticle whose structure positively responds to the pH variations found in gastrointestinal tract. The powder formulation presented high palatability that was evaluated using fish as in vivo animal model. A thorough survey of the fish intestinal tissues, following a systematic oral administration, revealed high penetration potential of the biomaterial through epithelial cells and deeper intestine layers. Despite, no cytotoxic effect was observed in analyzing the tissues through different histology methods. The absence of intestinal damage was corroborated by immune histochemistry, being the integrity of epithelial motor myosin Vb and related traffic proteins preserved. Hematology further endorsed absence of toxicity in blood cells whose morphology was evaluated in detail. The study evidenced the applicability potential of a new biomaterial of appealing and safe oral administration of antibacterial polypeptide.


Assuntos
Antibacterianos , Peptídeos , Peptídeos/química , Peptídeos/farmacologia , Antibacterianos/química , Antibacterianos/farmacologia , Administração Oral , Pós/química , Peixes-Gato , Animais , Tamanho da Partícula , Concentração de Íons de Hidrogênio
17.
Gastroenterology ; 165(3): 696-716, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37263305

RESUMO

BACKGROUND & AIMS: Genetic ancestry or racial differences in health outcomes exist in diseases associated with systemic inflammation (eg, COVID-19). This study aimed to investigate the association of genetic ancestry and race with acute-on-chronic liver failure (ACLF), which is characterized by acute systemic inflammation, multi-organ failure, and high risk of short-term death. METHODS: This prospective cohort study analyzed a comprehensive set of data, including genetic ancestry and race among several others, in 1274 patients with acutely decompensated cirrhosis who were nonelectively admitted to 44 hospitals from 7 Latin American countries. RESULTS: Three hundred ninety-five patients (31.0%) had ACLF of any grade at enrollment. Patients with ACLF had a higher median percentage of Native American genetic ancestry and lower median percentage of European ancestry than patients without ACLF (22.6% vs 12.9% and 53.4% vs 59.6%, respectively). The median percentage of African genetic ancestry was low among patients with ACLF and among those without ACLF. In terms of race, a higher percentage of patients with ACLF than patients without ACLF were Native American and a lower percentage of patients with ACLF than patients without ACLF were European American or African American. In multivariable analyses that adjusted for differences in sociodemographic and clinical characteristics, the odds ratio for ACLF at enrollment was 1.08 (95% CI, 1.03-1.13) with Native American genetic ancestry and 2.57 (95% CI, 1.84-3.58) for Native American race vs European American race CONCLUSIONS: In a large cohort of Latin American patients with acutely decompensated cirrhosis, increasing percentages of Native American ancestry and Native American race were factors independently associated with ACLF at enrollment.


Assuntos
Insuficiência Hepática Crônica Agudizada , COVID-19 , Humanos , América Latina/epidemiologia , Cirrose Hepática/diagnóstico , Cirrose Hepática/epidemiologia , Cirrose Hepática/genética , Estudos Prospectivos , COVID-19/complicações , Insuficiência Hepática Crônica Agudizada/diagnóstico , Insuficiência Hepática Crônica Agudizada/epidemiologia , Insuficiência Hepática Crônica Agudizada/genética , Inflamação/complicações , Prognóstico
18.
Nature ; 617(7962): 785-791, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37165193

RESUMO

Different plant species within the grasses were parallel targets of domestication, giving rise to crops with distinct evolutionary histories and traits1. Key traits that distinguish these species are mediated by specialized cell types2. Here we compare the transcriptomes of root cells in three grass species-Zea mays, Sorghum bicolor and Setaria viridis. We show that single-cell and single-nucleus RNA sequencing provide complementary readouts of cell identity in dicots and monocots, warranting a combined analysis. Cell types were mapped across species to identify robust, orthologous marker genes. The comparative cellular analysis shows that the transcriptomes of some cell types diverged more rapidly than those of others-driven, in part, by recruitment of gene modules from other cell types. The data also show that a recent whole-genome duplication provides a rich source of new, highly localized gene expression domains that favour fast-evolving cell types. Together, the cell-by-cell comparative analysis shows how fine-scale cellular profiling can extract conserved modules from a pan transcriptome and provide insight on the evolution of cells that mediate key functions in crops.


Assuntos
Produtos Agrícolas , Setaria (Planta) , Sorghum , Transcriptoma , Zea mays , Sequência de Bases , Regulação da Expressão Gênica de Plantas/genética , Sorghum/citologia , Sorghum/genética , Transcriptoma/genética , Zea mays/citologia , Zea mays/genética , Setaria (Planta)/citologia , Setaria (Planta)/genética , Raízes de Plantas/citologia , Análise da Expressão Gênica de Célula Única , Análise de Sequência de RNA , Produtos Agrícolas/citologia , Produtos Agrícolas/genética , Evolução Molecular
19.
Mol Ecol ; 2023 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-37194086

RESUMO

A main goal of evolutionary biology is to understand the genetic basis of adaptive evolution. Although the genes that underlie some adaptive phenotypes are now known, the molecular pathways and regulatory mechanisms mediating the phenotypic effects of those genes often remain a black box. Unveiling this black box is necessary to fully understand the genetic basis of adaptive phenotypes, and to understand why particular genes might be used during phenotypic evolution. Here, we investigated which genes and regulatory mechanisms are mediating the phenotypic effects of the Eda haplotype, a locus responsible for the loss of lateral plates and changes in the sensory lateral line of freshwater threespine stickleback (Gasterosteus aculeatus) populations. Using a combination of RNAseq and a cross design that isolated the Eda haplotype on a fixed genomic background, we found that the Eda haplotype affects both gene expression and alternative splicing of genes related to bone development, neuronal development and immunity. These include genes in conserved pathways, like the BMP, netrin and bradykinin signalling pathways, known to play a role in these biological processes. Furthermore, we found that differentially expressed and differentially spliced genes had different levels of connectivity and expression, suggesting that these factors might influence which regulatory mechanisms are used during phenotypic evolution. Taken together, these results provide a better understanding of the mechanisms mediating the effects of an important adaptive locus in stickleback and suggest that alternative splicing could be an important regulatory mechanism mediating adaptive phenotypes.

20.
Circ Cardiovasc Interv ; 16(5): e012635, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37192311

RESUMO

BACKGROUND: Anomalous aortic origin of the left coronary artery (AAOLCA) confers a rare, but significant, risk of sudden cardiac death in children. Surgery is recommended for interarterial AAOLCA, and other subtypes considered benign. We aimed to determine the clinical characteristics and outcomes of 3 AAOLCA subtypes. METHODS: All patients with AAOLCA <21 years old were prospectively enrolled (December 2012-November 2020), including group 1: AAOLCA from the right aortic sinus with interarterial course, group 2: AAOLCA from the right aortic sinus with intraseptal course, and group 3: AAOLCA with a juxtacommissural origin between the left and noncoronary aortic sinus. Anatomic details were assessed using computed tomography angiography. Provocative stress testing (exercise stress testing and stress perfusion imaging) was performed in patients >8 years old or younger if concerning symptoms. Surgery was recommended for group 1 and in select cases in group 2 and group 3. RESULTS: We enrolled 56 patients (64% males) with AAOLCA (group 1, 27; group 2, 20; group 3, 9) at median age of 12 years (interquartile range, 6-15). Intramural course was common in group 1 (93%) compared with group 3 (56%) and group 2 (10%). Seven (13%) presented with aborted sudden cardiac death (group 1, 6/27; group 3, 1/9); 1 (group 3) with cardiogenic shock. Fourteen/42 (33%) had inducible ischemia on provocative testing (group 1, 32%; group 2, 38%; group 3, 29%). Surgery was recommended in 31/56 (56%) patients (group 1, 93%; group 2, 10%; and group 3, 44%). Surgery was performed in 25 patients at a median age 12 (interquartile range, 7-15) years; all have been asymptomatic and free from exercise restrictions at median follow-up of 4 (interquartile range, 1.4-6.3) years. CONCLUSIONS: Inducible ischemia was noted in all 3 AAOLCA subtypes while most aborted sudden cardiac deaths occurred in interarterial AAOLCA (group 1). Aborted sudden cardiac death and cardiogenic shock may occur in AAOLCA with left/nonjuxtacommissural origin and intramural course, thus also deemed high-risk. A systematic approach is essential to adequately risk stratify this population.


Assuntos
Anomalias dos Vasos Coronários , Parada Cardíaca , Masculino , Humanos , Criança , Adulto Jovem , Adulto , Feminino , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/cirurgia , Choque Cardiogênico , Resultado do Tratamento , Aorta , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Anomalias dos Vasos Coronários/complicações , Anomalias dos Vasos Coronários/diagnóstico por imagem , Anomalias dos Vasos Coronários/cirurgia
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