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Foodborne disease outbreaks linked to consumption of vegetables have been often attributed to human enteric viruses, such as Norovirus (NoV), Hepatitis A virus (HAV), and Rotavirus (RoV). Information about the occurrence of these viruses is scarce in many fresh-producing countries. Viral contamination detection of indicators, such as somatic coliphages, could indirectly reflect the presence of viral pathogens, being a valuable tool for better viral risk assessment in food industry. This study aimed to establish the occurrence and correlation of foodborne viruses and somatic coliphages in leafy greens in northern Mexico. A total of 320 vegetable samples were collected, resulting in 80 composite rinses, 40 of lettuce and 40 of parsley. Somatic coliphages were determined using the EPA 1602 method, while foodborne viruses (HAV, RoV, NoV GI, and GII) were determined by qPCR. The occurrence of RoV was 22.5% (9/40, mean 2.11 log gc/g) in lettuce and 20% (8/40, mean 1.91 log gc/g) in parsley. NoV and HAV were not detected in any samples. Somatic coliphages were present in all lettuce and parsley samples, with mean levels of 1.85 log PFU/100 ml and 2.28 log PFU/100 ml, respectively. Spearman analysis established the correlation of somatic coliphages and genomic copies of RoV, resulting in an r2 value of - 0.026 in lettuce and 0.349 in parsley. Although NoV or HAV were undetected in the samples, the presence of RoV is a matter of concern as leafy greens are usually eaten raw, which poses a potential risk of infection.
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Enterovirus , Vírus da Hepatite A , Norovirus , Rotavirus , Vírus , Humanos , México , Enterovirus/genética , Vírus da Hepatite A/genética , Norovirus/genética , Rotavirus/genética , Colífagos , Contaminação de Alimentos/análiseRESUMO
BACKGROUND: The diversity and population genetic structure of many species have been shaped by historical and contemporary climatic changes. For the species of the South American Altiplano, the historical climatic changes are mainly related to the wet events of great magnitude and regional influence that occurred during the Pleistocene climatic oscillations (PCOs). In contrast, contemporary climate changes are associated with events of lesser magnitude and local influence related to intensifications of the South American Summer Monsoon (SASM). Although multiple studies have analyzed the effect of PCOs on the genetic patterns of highland aquatic species, little is known about the impact of contemporary climate changes in recent evolutionary history. Therefore, in this study, we investigated the change in population structure and connectivity using nuclear and mitochondrial markers throughout the distribution range of Heleobia ascotanensis, a freshwater Cochliopidae endemic to the Ascotán Saltpan. In addition, using geometric morphometric analyses, we evaluated the concomitance of genetic divergence and morphological differentiation. RESULTS: The mitochondrial sequence analysis results revealed the presence of highly divergent co-distributed and geographically nested haplotypes. This pattern reflects an extension in the distribution of groups that previously would have differentiated allopatrically. These changes in distribution would have covered the entire saltpan and would be associated with the large-scale wet events of the PCOs. On the other hand, the microsatellite results defined five spatially isolated populations, separated primarily by geographic barriers. Contemporary gene flow analyses suggest that post-PCO, climatic events that would have connected all populations did not occur. The morphometric analyses results indicate that there is significant morphological differentiation in the populations that are more isolated and that present the greatest genetic divergence. CONCLUSIONS: The contemporary population structure and morphological variation of H. ascotanensis mainly reflect the post-PCO climatic influence. Although both markers exhibit high genetic structuring, the microsatellite and morphology results show the preponderant influence of fragmentation in recent evolutionary history. The contemporary genetic pattern shows that in species that have limited dispersal capabilities, genetic discontinuities can appear rapidly, erasing signs of historical connectivity.
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Evolução Biológica , Mudança Climática , Animais , Chile , Água Doce , CaramujosRESUMO
Cellular senescence is a well-established driver of aging and age-related diseases. There are many challenges to mapping senescent cells in tissues such as the absence of specific markers and their relatively low abundance and vast heterogeneity. Single-cell technologies have allowed unprecedented characterization of senescence; however, many methodologies fail to provide spatial insights. The spatial component is essential, as senescent cells communicate with neighboring cells, impacting their function and the composition of extracellular space. The Cellular Senescence Network (SenNet), a National Institutes of Health (NIH) Common Fund initiative, aims to map senescent cells across the lifespan of humans and mice. Here, we provide a comprehensive review of the existing and emerging methodologies for spatial imaging and their application toward mapping senescent cells. Moreover, we discuss the limitations and challenges inherent to each technology. We argue that the development of spatially resolved methods is essential toward the goal of attaining an atlas of senescent cells.
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Envelhecimento , Senescência Celular , Estados Unidos , Humanos , Animais , Camundongos , LongevidadeRESUMO
Phosphoenolpyruvate carboxykinase (PEPCK) catalyses the reversible reaction of decarboxylation and phosphorylation of oxaloacetate (OAA) to generate phosphoenolpyruvate (PEP) and CO2 playing mainly a gluconeogenic role in green algae. We found two PEPCK isoforms in Chlamydomonas reinhardtii and we cloned, purified and characterised both enzymes. ChlrePEPCK1 is more active as decarboxylase than ChlrePEPCK2. ChlrePEPCK1 is hexameric and its activity is affected by citrate, phenylalanine and malate, while ChlrePEPCK2 is monomeric and it is regulated by citrate, phenylalanine and glutamine. We postulate that the two PEPCK isoforms found originate from alternative splicing of the gene or regulated proteolysis of the enzyme. The presence of these two isoforms would be part of a mechanism to finely regulate the biological activity of PEPCKs.
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Chlamydomonas reinhardtii , Fosfoenolpiruvato , Chlamydomonas reinhardtii/genética , Fosfoenolpiruvato Carboxiquinase (ATP)/genética , Isoformas de Proteínas , Fenilalanina , CitratosRESUMO
The emergence of COVID-19 as a global pandemic forced researchers worldwide in various disciplines to investigate and propose efficient strategies and/or technologies to prevent COVID-19 from further spreading. One of the main challenges to be overcome is the fast and efficient detection of COVID-19 using deep learning approaches and medical images such as Chest Computed Tomography (CT) and Chest X-ray images. In order to contribute to this challenge, a new dataset was collected in collaboration with "S.E.S Hospital Universitario de Caldas" ( https://hospitaldecaldas.com/ ) from Colombia and organized following the Medical Imaging Data Structure (MIDS) format. The dataset contains 7,307 chest X-ray images divided into 3,077 and 4,230 COVID-19 positive and negative images. Images were subjected to a selection and anonymization process to allow the scientific community to use them freely. Finally, different convolutional neural networks were used to perform technical validation. This dataset contributes to the scientific community by tackling significant limitations regarding data quality and availability for the detection of COVID-19.
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COVID-19 , Humanos , COVID-19/diagnóstico por imagem , Raios X , ColômbiaRESUMO
CONTEXT: Dairy cattle experience stressful environmental situations that affect production. Heat stress during gestation can influence the intrauterine development of offspring, resulting in long-term damage that can affect the reproductive life of the adult offspring. AIM: The aim of the present study was to evaluate changes in the expression and regulation of steroid hormone receptors in the ovary of Holstein cows gestated under different temperature-humidity index (THI) during their in utero development. METHODS: Animals were classified by their exposure to temperature-humidity index (THI) ≥72 during their development in utero according to date of birth or date of effective service of their mother. This study was not carried out under controlled conditions, but the conditions to which the cows were naturally exposed during their development were considered retrospectively, controlling the variables in the statistical analyses (age as a covariate, dairy farm as a random factor). Gestation was divided into two periods (P1=days 0-150; and P2=day 151 to calving) and three trimesters (T1=days 0-90; T2=days 91-180; and T3=day 181 to calving), and the exposure to THI ≥72 was calculated in each one. The following characteristics were evaluated: gene expression of estrogen receptor (ESR) 1, ESR2 and progesterone receptor (PGR), CpG methylation in the 5'UTR of ESR1 and ESR2, and protein expression of ESR1, ESR2, PGR and coregulatory proteins in the dominant follicles of daughter cows in adulthood. KEY RESULTS: We found associations between heat stress variables during gestation and the methylation status of CpG sites in the 5'UTR of ESR1 and ESR2 in dominant follicles. Results also showed association between exposure to high THI values during intrauterine development and expression of ESR1, ESR2 and PGR and coregulatory proteins in dominant follicles of adult cows. CONCLUSIONS: These results provide novel information about the impact of prenatal heat stress on molecular aspects at the ovary level in the offspring, during their adult life, which probably impacts the reproductive aspects of the herd.
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Doenças dos Bovinos , Transtornos de Estresse por Calor , Regiões 5' não Traduzidas , Animais , Bovinos , Doenças dos Bovinos/metabolismo , Feminino , Transtornos de Estresse por Calor/genética , Transtornos de Estresse por Calor/metabolismo , Transtornos de Estresse por Calor/veterinária , Resposta ao Choque Térmico/fisiologia , Hormônios , Temperatura Alta , Lactação/fisiologia , Leite/metabolismo , Ovário , Gravidez , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/genética , Receptores de Progesterona/metabolismo , Estudos Retrospectivos , EsteroidesRESUMO
In dairy cows, reproductive diseases such as cystic ovarian disease (COD) represent a major problem that impacts on dairy production. It has been postulated that the insulin-like growth factor (IGF) system may contribute to follicular persistence and development of COD. Thus, the aim of the present study was to analyze relevant members of the IGF system in a critical period immediately after the expected time of ovulation, to obtain information about their role in follicular persistence in dairy cows. Proteins of the IGF system were evaluated at 0 (expected day of ovulation), 5, 10 and 15 days of follicular persistence to determine whether the changes previously detected in cows with COD occur early in COD pathogenesis. The serum concentration of IGF1 was higher in cows with 10 and 15 days of follicular persistence than in control cows. IGF1 expression in granulosa cells was similar in the follicles analyzed. In contrast, in theca cells, persistent follicles of days 5 and 10 showed the lowest IGF1 expression. IGF binding protein (IGFBP) 2 and 3 expression was lower in persistent follicles than in dominant follicles of the control group. Although IGF receptor (IGFR) 1 expression was similar in the groups analyzed, p-IGFR1 expression was significantly higher in dominant follicles of the control group than in persistent follicles. These data suggest alterations in the IGF system at the early stages of follicular persistence. The evidences obtained allow supporting that the IGF system could plays a key role in dairy cattle reproduction.
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Doenças dos Bovinos , Folículo Ovariano , Animais , Bovinos , Doenças dos Bovinos/metabolismo , Feminino , Líquido Folicular/metabolismo , Células da Granulosa/metabolismo , Fator de Crescimento Insulin-Like I/genética , Fator de Crescimento Insulin-Like I/metabolismo , Folículo Ovariano/metabolismo , Ovulação , Células TecaisRESUMO
Research on the early lexical-semantic system has described how toddlers organize word representations based on semantic and phonological features. This study is a longitudinal investigation of the development of this organization during infancy. Middle-high socioeconomic status Mexican toddlers (n = 28, 15 female) were presented with a preferential looking task using an eye-tracker at 18, 21, and 24 months of age, manipulating semantic and phonological lexical links. The experimental task consisted of presenting an auditory label, which was phonologically or semantically related or unrelated, with a displayed target image. Mean proportion of target looking, time-course of fixations, pupillometry, and vocabulary network analysis were used to describe the properties of priming effects. The results showed that phonological priming developed earlier than semantic priming, and that they were produced by behavioral interference. In addition, pupil dilation showed differential use of cognitive effort in critical developmental periods. Finally, the density of vocabulary networks correlated with semantic effects, and vocabulary size and local network features with phonological effects. These findings extend our understanding of the development of the lexical-semantic system during infancy. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
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Semântica , Vocabulário , Pré-Escolar , Feminino , Humanos , Linguística , Atividade Motora , FonéticaAssuntos
Inseticidas , Periodontite , China , Humanos , Inseticidas/análise , Neonicotinoides , Nitrocompostos , Periodontite/epidemiologiaRESUMO
The aims of this in vitro study were to synthesize, characterize, and evaluate the efficacy of a Calcium Hydroxide/Iodoform nanoparticles (CHIN) paste compared with Ultrapex as intracanal filling medication using an experimental model of bovine primary teeth. CH nanoparticle synthesis was performed via the simple hydrolysis technique of reacting calcium nitrate with sodium hydroxide. SEM-EDS and FT-IR analyses were used to characterize the obtained product. 30% of CH nanoparticles were combined with 40% of iodoform and 30% silicone oil to prepare an intracanal filling paste (CHIN). All endodontic procedures were performed on 34 uniradicular primary bovine teeth. Every root canal was instrumented with K files (up to #35) and obturated with the nanoparticle paste (experimental) or Ultrapex® (control). Three outcome variables were studied: penetration depth through the root dentinal tubules, Ca2+ ion release, and filling paste dissolution rate. The obtained data were analyzed by Student's t test. The X-ray diffraction pattern of CH nanoparticles showed characteristic peaks at CH, as confirmed by FT-IR analyses in which an intense signal was observed at 3643 cm-1, characteristic of CH. In the morphological characterization, CH particles could be detected at the nanosize scale. When applied as intracanal filling, the CHIN paste exhibited a higher level of penetration through the root dentin tubules. The global mean penetration measures were 500 µm for the experimental paste and 380 µm for the control paste (p < 0.05). The release of Ca2+ ions (up to the seventh day) and the dissolution rate were significantly higher in the experimental paste group than in the control group. No significant differences were observed between the groups regarding pH levels. The findings of this study suggest the potential suitability of CHI nanoparticles as an alternative intracanal filling medication for infected or devitalized primary teeth.
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Nanopartículas , Materiais Restauradores do Canal Radicular , Animais , Hidróxido de Cálcio , Bovinos , Humanos , Hidrocarbonetos Iodados , Irrigantes do Canal Radicular , Espectroscopia de Infravermelho com Transformada de Fourier , Dente DecíduoRESUMO
Heat stress has been widely studied in relation to its effects on the production and reproduction of dairy cattle. However, the long-term effects of heat stress during intrauterine development on adult cows have been scarcely considered. Thus, the aim of this study was to evaluate possible changes in the reproductive performance of Holstein cows gestated under different values of the Temperature-Humidity Index (THI) during their intrauterine development. Data collected from a database of reproductive and productive records of 10,790 Holstein cows from the central region of Argentina and the THI data from the agrometeorological station of the Instituto Nacional de Tecnología Agropecuaria (INTA) EEA Rafaela, Santa Fe, Argentina, were used. The gestation of the cows evaluated was divided into trimesters, in which the highest THI cycles (sum of three or more consecutive days of exposure to a THI ≥72 during each trimester) and number of days with a THI ≥ 72 were calculated. The calving-to-conception and calving-to-first-service intervals of the cows evaluated were considered as reproductive variables associated with their first lactation. Generalized Linear Mixed Models were used, considering the cow's dairy farm as a random factor within the model. The exposure of the animals to environments with a THI ≥72 during the first trimester of gestation had a negative impact on the reproductive efficiency parameters analyzed. The results obtained indicate that the exposure of pregnant females to high THI values has a long-term impact on their daughters, which may contribute to a decrease in their reproductive performance, possibly through inherited epigenetic characteristics that remain in later generations through fetal programming.
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Transtornos de Estresse por Calor , Leite , Animais , Argentina , Bovinos , Feminino , Transtornos de Estresse por Calor/veterinária , Resposta ao Choque Térmico , Umidade , Lactação , GravidezRESUMO
Technology has the potential to facilitate the development of higher-order thinking skills in learning. There has been a rush towards online learning by education systems during COVID-19; this can therefore be seen as an opportunity to develop students' higher-order thinking skills. In this short report we show how critical thinking and creativity can be developed in an online context, as well as highlighting the importance of grit. We also suggest the importance of heuristic evaluation in the design of online systems to support twenty-first century learning.
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Reproductive diseases in dairy cows as cystic ovarian disease (COD) represent a major problem that impacts on dairy production. COD is characterized by anovulation, persistence of the dominant follicle, and interruption of normal estrous cycles. Anovulation is attributable to a failure in the LH surge, due to endocrine imbalances and alterations in local factors, such as the insulin signaling pathway. Thus, the aim of this study was to examine the expression of critical nodes of the insulin pathway, including insulin receptor (IR), IR substrate (IRS), phosphatidylinositol-3-kinase (PI3K), and protein kinase B (also known as Akt or pan-Akt), in ovarian follicular structures of cows during the development of follicular persistence induced by long-term progesterone administration. Immunoexpression of IR, p-IR, IRS1, p-IRS1, PI3K, pan-Akt and p-pan-Akt was evaluated in situ by immunohistochemistry and the concentration of insulin in serum and follicular fluid was determined by radioimmunoassay. p-IR, p-IRS1, PI3K and p-pan-Akt expression was decreased in follicles at different times of persistence in relation to the control dominant follicles, in both granulosa and theca cells, whereas IR and IRS1 immunoexpression was decreased in persistent follicles at 5 and 15 days of persistence in granulosa cells. Serum and follicular fluid insulin concentration was higher in cows with persistent follicles than in control cows. These results show that decreased expression and/or activation of the receptors and other intermediates of the insulin signaling pathway in persistent follicles indicates that reduced response/resistance to insulin rather than the concentration of insulin per se may be one of the important molecular mechanisms in the development of persistent follicles in dairy cows.
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Insulina , Ovário , Animais , Bovinos , Estradiol , Feminino , Líquido Folicular , Folículo Ovariano , Progesterona , Transdução de SinaisRESUMO
Little information is available regarding the pathogens that cause diarrhea in hospitalized patients who also have various clinical problems. The purpose of this study was to determine the presence of pathogens in fecal samples of hospitalized patients all suffering diarrhea in addition to other problems in Mexico. Diarrheic stools from 240 patients were obtained in a third-level hospital in Monterrey, Mexico. PCR was used for the detection of Salmonella spp., Shigella spp., Campylobacter spp., Yersinia spp., Aeromonas spp., Clostridioides difficile, and norovirus GI and GII. The presence of trophozoites, cysts of protozoa, eggs, and/or helminth larvae was determined by microscopic observation. Of the 240 patients analyzed, 40.4% presented at least one of the pathogens analyzed. Norovirus was the pathogen most frequently found (28.6%), followed by bacteria (11.7%), and parasites (8.3%). The majority of co-infections were parasites + norovirus, and bacteria + norovirus. Norovirus was detected mainly in children aged 0 to 10 years (9/15, 60%). Patients aged 0-20 years did not present co-infections. Entamoeba coli and Entamoeba histolytica were the most common parasites, (8/240), and Salmonella was the most prevalent bacteria (10/240). This information can help design specific strategies useful for hospitalized people with a compromised status.
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Insulin-like growth factors (IGFs) are among the primary compounds regulating placental development. In bitches, relative abundance of IGF1, IGF2 and IGFR1 mRNA transcripts have been studied in the pre-implantation uterus and early endotheliochorial placentas. The IGF2 and IGFR1 distribution has also been previously described in the uterus before embryo implantation. The aim of this study was to detect, characterize, and localize the presence of IGF1, IGF2, and IGFR1 in early-developing and mature placentas of dogs. Placentas of 15 bitches were analyzed using immunohistochemistry. The IGFs were located in endometrial epithelium and glands, with the staining pattern and intensity being less in mature placentas. Cytotrophoblast cells (CTB) and syncytiotrophoblast (STB) cells contained both IGFs; the labeling was greater in CTB of the early-developing than mature placentas. The maternal endothelium was positively stained for both IGFs, while the vascular endothelium of the chorioallantoic membrane were only stained for IGF2. The IGFR1 was detected in all cell populations evaluated. Results regarding trophoblastic IGF are quite consistent with those reported in human placentas. Spatiotemporal IGFs/IGFR1 pattern might reflect the occurrence of autocrine and paracrine signaling during placentation in bitches, and the involvement in early placental developmental processes. Furthermore, it is hypothesized that, besides hemotrophic actions of plasma IGFs, endometrial secreted IGFs may promote early placental development through histotrophic signaling.
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Cães/fisiologia , Fator de Crescimento Insulin-Like II/metabolismo , Fator de Crescimento Insulin-Like I/metabolismo , Placenta/metabolismo , Receptor IGF Tipo 1/metabolismo , Animais , Feminino , Fator de Crescimento Insulin-Like I/genética , Fator de Crescimento Insulin-Like II/genética , Gravidez , RNA Mensageiro/metabolismo , Receptor IGF Tipo 1/genéticaRESUMO
BACKGROUND: Coinfections of HIV patients with hepatitis B virus (HBV) and hepatitis C virus (HCV) are mayor public health problems, contributing to the emerging burden of HIV-associated hepatic mortality. Coinfection rates vary geographically, depending on various factors such as predominant transmission modes, HBV vaccination rates, and prevalence of HBV and HCV in the general population. In South America, the epidemiology of coinfections is uncertain, since systematic studies are scarce. Our study aimed to analyze rates of HBV and HCV infection in people living with HIV attending centers of the public and private health system in Chile. METHODS: We performed a cross-sectional study including a public university hospital and a private health center in Santiago, Metropolitan Region in Chile. Serum samples were used to determine serological markers of hepatitis B (HBsAg, anti-HBs, anti-HBc total, HBeAg, anti-HBe) and anti-HCV. Demographic, clinical and laboratory data were obtained from medical records. RESULTS: 399 patients were included (353 from public, 46 from private health center). Most (92.8%) were male, with a median age of 38.3 years; 99.4% acquired HIV through sexual contact (75.0% MSM); 25.7% had AIDS and 90.4% were on ART. In 78.9%, viral loads were <40 cps/mL; the median CD4 cell count was 468 cells/mm3. According to their serological status, 37.6% of patients were HBV naïve (susceptible), 6.5% were vaccinated, 43.6% had resolved HBV infection, and 5.8% were chronically infected. The rate of vaccination was 4.5% in the public and 21.7% in the private system. HCV coinfection was found in 1.0% of all patients. CONCLUSION: HBV coinfection rate was within the range of other South American countries, but lower than in non-industrialized regions in Asia and Africa. A low percentage of patients were HBV vaccinated, especially within the public system. HCV coinfection rate was very low, most probably due to the rareness of injecting drug use.
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Infecções por HIV/complicações , Hepatite B/complicações , Hepatite C/complicações , Adulto , Chile/epidemiologia , Coinfecção/sangue , Coinfecção/complicações , Coinfecção/epidemiologia , Estudos Transversais , Feminino , HIV/isolamento & purificação , Infecções por HIV/sangue , Infecções por HIV/epidemiologia , Hepacivirus/isolamento & purificação , Hepatite B/sangue , Hepatite B/epidemiologia , Vírus da Hepatite B/isolamento & purificação , Hepatite C/sangue , Hepatite C/epidemiologia , Hospitais Privados , Hospitais Públicos , Hospitais Universitários , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
The peri-calving period is characterized by a negative energy balance, which leads to lipid mobilization. Thus, during this period, the liver has important functions related to optimizing milk yield, preventing metabolic and infectious diseases, and improving fertility. To clarify the relationship between liver fatty acid metabolism and reproductive performance, the present study was conducted to assess the abundance of specific hepatic proteins related to lipid metabolism in both plasma and follicular fluid in dairy cattle with different days to conception (DC). Sixteen animals were grouped according to DC, as more and fewer DC (MDC and FDC, respectively). Blood and liver biopsies were sampled 14 days before the expected calving date and 4, 14 and 28 days after calving. The plasma beta-hydroxybutyric acid (BHBA) concentrations and the liver triacylglycerol (TAG) content were greater in the MDC group (Pâ¯<⯠0.05), whereas the protein abundance of carnitine palmitoyl transferase 1 was greater in the FDC group (P < 0.05). Additionally, total bilirubin (TBil) concentration was less in the FDC than MDC group on day 28 (P < 0.05). These results indicate lipid mobilization and liver fatty acid oxidation capacity in dairy cows could contribute to the adaptations and reproductive performance.
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Bovinos/fisiologia , Ácidos Graxos/metabolismo , Fígado/metabolismo , Reprodução/fisiologia , Acil-CoA Oxidase/genética , Acil-CoA Oxidase/metabolismo , Ração Animal , Criação de Animais Domésticos , Animais , Carnitina O-Palmitoiltransferase/genética , Carnitina O-Palmitoiltransferase/metabolismo , Bovinos/sangue , Diacilglicerol O-Aciltransferase/genética , Diacilglicerol O-Aciltransferase/metabolismo , Feminino , Regulação da Expressão Gênica , Metabolismo dos Lipídeos , PPAR alfa/genética , PPAR alfa/metabolismo , Período Periparto/sangue , Período Periparto/fisiologia , Gravidez , Triglicerídeos/metabolismoRESUMO
BACKGROUND: Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years. Family screening offers an important benefit for detection of new patients. The aim of this work is to present the approach along with the results of a targeted genetic strategy for pedigree analysis for FD in Argentina. METHODS: By this strategy as soon as a new index Fabry patient is diagnosed, the pedigree group contacts the physician and a meeting is arranged with the physician and the family to build the family tree. RESULTS: Pedigree analysis was carried out for full in 31 families. In the work period, we have tested 1,462 relatives, and 501 were diagnosed FD. The proportion of positive detection was 33%. CONCLUSION: The targeted family screening approach is successful to detect undiagnosed Fabry patients. By this approach, the highest ratio index to pedigree ever reported for FD pedigree analysis of 1:15 was obtained.
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Doença de Fabry/diagnóstico , Doença de Fabry/genética , Argentina/epidemiologia , Doença de Fabry/metabolismo , Família , Humanos , Mutação , Linhagem , FenótipoRESUMO
RESUMO A escolha da especialidade médica é de suma importância para o estudante de Medicina, uma vez que representa a escolha da sua prática diária. Embora a realização acadêmica, considerações financeiras e preferências de estilo de vida influenciem a escolha, os aspectos intrapessoais têm impacto na decisão do médico. Objetivos Avaliar os principais fatores que influenciam o acadêmico de Medicina na escolha da especialidade médica e identificar as áreas de atuação preferidas pelos estudantes dos quatro primeiros anos de uma instituição de ensino superior de Curitiba (PR). Resultados Dos 397 estudantes, 307 responderam a um questionário previamente elaborado para este estudo, sendo que 291 foram considerados válidos. Duzentos e quatro estudantes são do sexo feminino e 87 do sexo masculino. Os fatores de influência foram comparados entre os estudantes dos diferentes anos e com resultados publicados na literatura. Os principais fatores considerados pelos estudantes nesta decisão foram: conhecimento mais amplo ou específico, contato com o paciente, local de atuação profissional e estilo de vida após a residência médica. Para as mulheres, a pressão do dia a dia durante o exercício da especialidade, a relação a longo prazo com o paciente e a facilidade de emprego foram significativamente mais relevantes na escolha da especialidade do que para os homens. Pai ou mãe médicos influenciam os estudantes na decisão da escolha da especialidade. O perfil financeiro do estudante influenciou a escolha quando relacionado a retorno financeiro a longo prazo, sendo mais relevante para os estudantes com renda familiar mensal entre 6 mil e 15 mil reais ou maior que 20 mil reais. A especialidade de Cirurgia Geral foi a preferida pelos estudantes, com predominância no sexo masculino, seguida de Pediatria, Clínica Médica e Psiquiatria. Conclusões Estilo de vida, local de atuação e retorno financeiro precoce foram considerados igualmente importantes por estudantes de todos os anos avaliados. Devido à grande quantidade de variáveis avaliadas e de fatores que influenciam esta decisão, estudos adicionais são necessários para comparações mais significativas com a literatura disponível.
ABSTRACT Choosing a medical specialty is extremely important for medical students as it represents the choice of their day-to-day practice. While this choice is influenced by academic achievement, financial considerations and lifestyle preferences, intrapersonal aspects also have an impact on the decision. Objectives To evaluate the main factors that influence medical students in their choice of medical specialty, and to identify the areas of practice preferred by students in the first four years of a Higher Education Institution. Results Out of a total of 397 students, 307 answered a questionnaire previously prepared for this study, and of these, 291 were considered valid. 204 female, and 87 male. Influencing factors were compared among students from different years, and with results published in the literature. The main factors considered by the students in this decision were: broader or specific knowledge, contact with the patient, place of professional activity, and lifestyle after medical residency. For the women, the factors day-to-day stress of the specialty, the long-term relationship with the patient, and the ease of finding a job were significantly more relevant in the choice of specialty than for the men. Parents who were doctors also influenced the choice of specialty. The student's financial profile influenced the choice when related to long-term financial returns, being more relevant for students with monthly family incomes at the higher or lower ends of spectrum, i.e., - between 6 and 15 thousand Brazilian reals, or more than 20 thousand Brazilian reals. The specialty General Surgery was the first choice , predominantly among the male students, followed by Pediatrics, Clinical Medicine and Psychiatry. Conclusions Lifestyle, place of professional activity and early financial returns were considered equally important by students across all the years evaluated. Due to the large number of variables evaluated, and the many factors that influence this decision, additional studies are needed, in order to make more significant comparisons with the literature.