348 research outputs found
Takotsubo Cardiomyopathy: Cause of a Cardiogenic Shock
A miocardiopatia de Takotsubo, de etiologia desconhecida, caracteriza-se pela disfunção sistólica súbita e transitória dos segmentos médio-apicais do ventrículo esquerdo, sem doença coronária significativa, com total normalização das alterações segmentares. É mais frequente em mulheres de meia-idade, implicando diagnóstico diferencial com a sindrome coronária aguda. Apresentamos o caso de uma mulher de 59 anos que recorreu ao Serviço de Urgência por dispneia súbita e dor torácica. À admissão apresentava-se em edema pulmonar agudo hipotensivo com necessidade de suporte aminérgico e ventilação invasiva. A avaliação analítica demonstrava elevação dos marcadores cardíacos. Electrocardiogramas seriados em ritmo sinusal com inversão progressiva da onda T nas derivações precordiais (v2 - v6). Ecocardiogramas de controlo revelando acinésia apical com diminuição da função sistólica global, e reversão total das alterações em duas semanas. Admitido choque cardiogénico de etiologia não esclarecida foi excluída doença coronária,
sustentando o diagnóstico de miocardiopatia de Takotsubo
Spectrum and Frequency of GJB2 Mutations in a Cohort of 264 Portuguese Nonsyndromic Sensorineural Hearing Loss Patients
OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients.
DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions.
STUDY SAMPLE:
A cohort of 264 Portuguese NSSHL patients.
RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations.
CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families
Development of the preterm gut microbiome in twins at risk of necrotising enterocolitis and sepsis
The preterm gut microbiome is a complex dynamic community influenced by genetic and environmental factors and is implicated in the pathogenesis of necrotising enterocolitis (NEC) and sepsis. We aimed to explore the longitudinal development of the gut microbiome in preterm twins to determine how shared environmental and genetic factors may influence temporal changes and compared this to the expressed breast milk (EBM) microbiome. Stool samples (n = 173) from 27 infants (12 twin pairs and 1 triplet set) and EBM (n = 18) from 4 mothers were collected longitudinally. All samples underwent PCR-DGGE (denaturing gradient gel electrophoresis) analysis and a selected subset underwent 454 pyrosequencing. Stool and EBM shared a core microbiome dominated by Enterobacteriaceae, Enterococcaceae, and Staphylococcaceae. The gut microbiome showed greater similarity between siblings compared to unrelated individuals. Pyrosequencing revealed a reduction in diversity and increasing dominance of Escherichia sp. preceding NEC that was not observed in the healthy twin. Antibiotic treatment had a substantial effect on the gut microbiome, reducing Escherichia sp. and increasing other Enterobacteriaceae.
This study demonstrates related preterm twins share similar gut microbiome development, even within the complex environment of neonatal intensive care. This is likely a result of shared genetic and immunomodulatory factors as well as exposure to the same maternal microbiome during birth, skin contact and exposure to EBM. Environmental factors including antibiotic exposure and feeding are additional significant determinants of community structure, regardless of host genetics
Young adults who self-harm: Barriers to and facilitators of seeking help
In Portugal, the lifetime prevalence of DSH in adolescents is situated between 16% and 35% (Duarte et al.,
2020a; Gouveia-Pereira et al., 2016). Help-seeking is an important facilitator to stop these behaviors, although it
is known that most individuals who engage in self-harm do not ask for help (Rowe et al., 2014). Study one (n =
222) examines the differences between two groups of young adults with a history of deliberate self-harm (participants
who asked for help and participants who did not ask for help) regarding these behaviors’ severity and
diversity, suicidal ideation, and family conflicts. Participants completed a self-report questionnaire which
included an open-ended question focused on the reasons that may or may not contribute for seeking help. Significant
differences between the two groups were found for all variables and are further discussed, followed by a
qualitative analysis concerning the help-seeking motives. Study two (n = 110) used a self-report questionnaire to
analyze the expectations of young adults with a history of deliberate self-harm concerning their social support
network and the role of healthcare workers when they asked or thought about asking for help. These expectations
included contents related with problem-solving, confidentiality, understanding and trust, support, and
unburdening.
Identifying facilitators and barriers to help-seeking can be a relevant step in planning and managing interventions
within deliberate self-harm. Future directions and limitations are discussed.Fundação para a Ciência e Tecnologia - FCTinfo:eu-repo/semantics/publishedVersio
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Dinosaurs reveal the geographical signature of an evolutionary radiation
Dinosaurs dominated terrestrial ecosystems across the globe for over 100 million years and provide a classic example of an evolutionary radiation. However, little is known about how these animals radiated geographically to become globally distributed. Here, we use a biogeographical model to reconstruct the dinosaurs’ ancestral locations, revealing the spatial mechanisms that underpinned this 170-million-year-long radiation. We find that dinosaurs spread rapidly initially, followed by a significant continuous and gradual reduction in their speed of movement towards the Cretaceous/Tertiary boundary (66 million years ago). This suggests that the predominant mode of dinosaur speciation changed through time with speciation originally largely driven by geographical isolation—when dinosaurs speciated more, they moved further. This was gradually replaced by increasing levels of sympatric speciation (species taking advantage of ecological opportunities within their existing environment) as terrestrial space became a limiting factor. Our results uncover the geographical signature of an evolutionary radiation
Lysine-based surfactants in nanovesicle formulations: the role of cationic charge position and hydrophobicity in in vitro cytotoxicity and intracellular delivery
Understanding nanomaterial interactions within cells is of increasing importance for assessing their toxicity and cellular transport. Here, we developed nanovesicles containing bioactive cationic lysine-based amphiphiles, and assessed whether these cationic compounds increase the likelihood of intracellular delivery and modulate toxicity. We found different cytotoxic responses among the formulations, depending on surfactant, cell line and endpoint assayed. The induction of mitochondrial dysfunction, oxidative stress and apoptosis were the general mechanisms underlying cytotoxicity. Fluorescence microscopy analysis demonstrated that nanovesicles were internalized by HeLa cells, and evidenced that their ability to release endocytosed materials into cell cytoplasm depends on the structural parameters of amphiphiles. The cationic charge position and hydrophobicity of surfactants determine the nanovesicle interactions within the cell and, thus, the resulting toxicity and intracellular behavior after cell uptake of the nanomaterial. The insights into some toxicity mechanisms of these new nanomaterials contribute to reducing the uncertainty surrounding their potential health hazards
Using Geotechnology to Estimate Annual Soil Loss Rate in the Brazilian Cerrado
Soil erosion is a serious environmental problem that has adversely affected the world’s food production through the reduction of land productivity and water availability. The present study estimated annual soil loss rate and its spatial distribution in the most important Brazil’s agricultural region, the Brazilian Cerrado, using Revised Soil Loss Equation (RUSLE) model into Geographic Information System (GIS) framework. For this purpose, the soil erosion annual rate was determined in function of RUSLE model factors: rainfall erosivity (R), soil erodibility (K), topography (LS), crop management (C) and supporting conservation practice (P). All factors were obtained from literature. They were processed and integrated into a GIS, resulting in a map of annual soil loss rate. The methodology applied showed acceptable precision and it was possible to identify the most susceptible areas to water erosion. The average estimated rate of soil loss for the entire Cerrado was 12.8 t∙ha−1∙yr−1. Large part of the Cerrado is under low soil loss zone corresponding to 79.91% of total surface area, while 15.70%, 3.74%, and 0.66% are under moderate, high, and very high, respectively. The average estimated rate of soil loss in areas used for silviculture was 52.1 t∙ha−1∙yr−1. In semi-perennial, perennial, and annual crops cultivation were 29.3, 23.9, and 9.8 t∙ha−1∙yr−1, respectively, while in the pasture was 13.3 t∙ha−1∙yr−1. Except for annual crops, all farm and silviculture areas showed average soil loss ranging from moderate to high rate. These results suggest that the implementation of more effective management techniques and conservation practices are necessary for the Cerrado to maintain and to improve land productivity by ensuring national and international food demands
Sex-Biased Expression of MicroRNAs in Schistosoma mansoni
Schistosomiasis is an important neglected tropical disease caused by digenean helminth parasites of the genus Schistosoma. Schistosomes are unusual in that they are dioecious and the adult worms live in the blood system. MicroRNAs play crucial roles during gene regulation and are likely to be important in sex differentiation in dioecious species. Here we characterize 112 microRNAs from adult Schistosoma mansoni individuals, including 84 novel microRNA families, and investigate the expression pattern in different sexes. By deep sequencing, we measured the relative expression levels of conserved and newly identified microRNAs between male and female samples. We observed that 13 microRNAs exhibited sex-biased expression, 10 of which are more abundant in females than in males. Sex chromosomes showed a paucity of female-biased genes, as predicted by theoretical evolutionary models. We propose that the recent emergence of separate sexes in Schistosoma had an effect on the chromosomal distribution and evolution of microRNAs, and that microRNAs are likely to participate in the sex differentiation/maintenance process
Animal Models of Acute Gastric Mucosal Injury: Macroscopic and Microscopic Evaluation
Acute gastric mucosal injury is a common disorder of the gastrointestinal tract and the search for new therapeutics is ongoing. The aim of this study is to update and expand the information related to the most widely used rat models of acute gastric ulcer, the ethanol-induced ulcer and the indomethacin-induced ulcer. These two models are compared in terms of macroscopic and microscopic features. Experimentally, ethanol was given orally in a single dose and indomethacin was subcutaneously injected into male Wistar rats. After ulcerative challenges, the stomachs were removed and visually inspected. Anti-ulcerative drugs were used to validate the models. Histological analysis of the stomachs determined the microscopic score. The methodology used for model evaluation applied to macroscopic and microscopic gastric lesions. With these methods it was possible to induce lesions in the gastric mucosa. Microscopic evaluation permitted assessment of the inflammatory and apoptotic impact in the mucosa not observable by macroscopic evaluation. Groups of animals were treated with two standard drugs: sulcralfate suspension or lansoprazole solution. Both drugs reduced macroscopic and microscopic lesions, particularly the hemorrhagic ones. Both models induced acute gastric mucosal injury and no single evaluation method can address all the aspects of the pathology of gastric lesions. As a complement to macroscopic evaluation, microscopy appears to be a relevant tool to selectively identify specific aspects of the development of mucosal injury, quantify the extent of lesions, and contribute to an appropriate interpretation of results. The score systems established here offer a reliable method for testing antiulcer drugs.info:eu-repo/semantics/publishedVersio
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