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1.
Arq Bras Cir Dig ; 35: e1708, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36542006

RESUMO

BACKGROUND: The COVID-19 pandemic has had a negative effect on surgical education in Latin America, decreasing residents' surgical training and supervised clinical practice. AIMS: This study aimed to identify strategies that have been proposed or implemented to adapt surgical training and supervised clinical practice to COVID-19-related limitations in Latin America. METHOD: A literature review was performed between April and May 2021, divided into two searches. The first one sought to identify adaptation strategies in Latin America for surgical training and supervised clinical practice. The second one was carried out as a complement to identify methodologies proposed in the rest of the world. RESULTS: In the first search, 16 of 715 articles were selected. In the second one, 41 of 1,637 articles were selected. Adaptive strategies proposed in Latin America focused on videoconferencing and simulation. In the rest of the world, remote critical analysis of recorded/live surgeries, intrasurgical tele-mentoring, and surgery recording with postoperative feedback were suggested. CONCLUSIONS: Multiple adaptation strategies for surgical education during the COVID-19 pandemic have been proposed in Latin America and the rest of the world. There is an opportunity to implement new strategies in the long term for surgical training and supervised clinical practice, although more prospective studies are required to generate evidence-based recommendations.


Assuntos
COVID-19 , Humanos , América Latina , Pandemias , Estudos Prospectivos
2.
Can J Microbiol ; 68(2): 139-145, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34662521

RESUMO

While monitoring the presence of antibiotic resistance in municipal wastewater bacteria from Mexico City, five Escherichia coli isolates were found to be resistant to carbapenems, antibiotics of "last resort" used mostly in hospitals. Further analysis revealed that these carbapenem-resistant isolates carried the gene encoding a metallo-beta-lactamase, NDM-5. The gene was found to be beared by a large, ∼145 kb conjugative plasmid, which also carries putative genes encoding resistance to sulfonamides, trimethoprim, tetracycline, ciprofloxacin, and chloramphenicol (although no phenotypic chloramphenicol resistance was detected) and quaternary-ammonium compounds. The plasmid also carried gene mobility determinants, such as integron integrase and two transposases. In addition to the direct public health threat posed by the presence of such multi-resistant organisms in wastewater released into the environment and used for crop irrigation; it is particularly concerning that carbapenem-resistant E. coli is rather rare in Mexican hospitals (<1%), but was found in small, 100 mL samples of municipal wastewater. This suggests that these organisms are under-reported by clinical microbiology laboratories, underlining the usefulness of wastewater monitoring, or that there is an unknown source of such carbapenem-resistant organisms that are being dumped into the wastewater. The source of these bacteria must be assessed and controlled to prevent further spread of this multi-resistance plasmid among other environmental and clinical microorganisms.


Assuntos
Escherichia coli/isolamento & purificação , Esgotos/microbiologia , beta-Lactamases , Antibacterianos/farmacologia , Escherichia coli/genética , Infecções por Escherichia coli , Humanos , México , Testes de Sensibilidade Microbiana , beta-Lactamases/genética
3.
ABCD (São Paulo, Online) ; 35: e1708, 2022. graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1419802

RESUMO

ABSTRACT BACKGROUND: The COVID-19 pandemic has had a negative effect on surgical education in Latin America, decreasing residents' surgical training and supervised clinical practice. AIMS: This study aimed to identify strategies that have been proposed or implemented to adapt surgical training and supervised clinical practice to COVID-19-related limitations in Latin America. METHOD: A literature review was performed between April and May 2021, divided into two searches. The first one sought to identify adaptation strategies in Latin America for surgical training and supervised clinical practice. The second one was carried out as a complement to identify methodologies proposed in the rest of the world. RESULTS: In the first search, 16 of 715 articles were selected. In the second one, 41 of 1,637 articles were selected. Adaptive strategies proposed in Latin America focused on videoconferencing and simulation. In the rest of the world, remote critical analysis of recorded/live surgeries, intrasurgical tele-mentoring, and surgery recording with postoperative feedback were suggested. CONCLUSIONS: Multiple adaptation strategies for surgical education during the COVID-19 pandemic have been proposed in Latin America and the rest of the world. There is an opportunity to implement new strategies in the long term for surgical training and supervised clinical practice, although more prospective studies are required to generate evidence-based recommendations.


RESUMO RACIONAL: A pandemia de COVID-19 teve um efeito negativo na educação cirúrgica na América Latina, diminuindo o treinamento cirúrgico dos residentes e a prática clínica supervisionada. OBJETIVOS: Identificar estratégias que foram propostas ou implementadas para adaptar o treinamento cirúrgico e a prática clínica supervisionada às limitações relacionadas ao COVID-19 na América Latina. MÉTODOS: Foi realizada revisão de literatura entre abril-maio de 2021, dividida em duas buscas. O primeiro procurou identificar estratégias de adaptação em América Latina para treinamento cirúrgico e prática clínica supervisionada. A segunda foi realizada como complemento para identificar metodologias propostas no resto do mundo. RESULTADOS: Na primeira busca, foram selecionados 16 dos 715 artigos. Na segunda, foram selecionados 41 dos 1.637 artigos. Estratégias adaptativas propostas na América Latina com foco em videoconferência e simulação. No resto do mundo, foram sugeridas análises críticas remotas de cirurgias gravadas/ao vivo, tele-mentoria intra-cirúrgica e gravação de cirurgia com feedback pós-operatório. CONCLUSÕES: Múltiplas estratégias de adaptação para educação cirúrgica durante a pandemia de COVID-19 foram propostas na América Latina e no resto do mundo. Há uma oportunidade de implementar novas estratégias a longo prazo para treinamento cirúrgico e prática clínica supervisionada, embora mais estudos prospectivos sejam necessários para gerar recomendações baseadas em evidências.

4.
Rev. argent. mastología ; 40(148): 38-43, dic. 2021. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1417698

RESUMO

Las pacientes sanas portadoras de mutaciones patogénicas del gen BRCA1 tiene un riesgo muy elevado de desarrollar cáncer de mama y ovario, con cifras reportadas que ascienden a 84% y 59% respec- tivamente.¹ Esto motivó a implementar distintas medidas de segui- miento y de reducción de riesgo, como la mastectomía bilateral de reducción de riesgo (MRR) y la salpingo-ooforectomía de reducción de riesgo (SORR). Pero aún así, distintas experiencias publicadas re- fieren que en pacientes portadoras de mutacion BRCA1 sometidas a MRR, el riesgo subsiguiente de desarrollar un cáncer primario de mama puede llegar al 10%.2 Por otro lado, las técnicas de mastectomías en general han experi- mentado modificaciones en menos, conservando las estructuras te- gumentarias y el tejido adiposo que la recubre. Últimamente se ha expuesto que, con la guía de las imágenes, se puede resecar menos tejido aun, fundamentalmente en los contornos mamarios donde se observa tejido adiposo y nada (o muy escaso) tejido glandular.3 Esta recomendación hoy es empírica, ya que no hay evidencia de la segu- ridad oncológica de conservar estos tejidos


Assuntos
Neoplasias da Mama , Mama , Genes BRCA1 , Mastectomia
5.
Sci Rep ; 11(1): 21544, 2021 11 03.
Artigo em Inglês | MEDLINE | ID: mdl-34732792

RESUMO

Arapaima gigas is one of the largest freshwater fish species of high ecological and economic importance. Overfishing and habitat destruction are severe threats to the remaining wild populations. By incorporating a chromosomal Hi-C contact map, we improved the arapaima genome assembly to chromosome-level, revealing an unexpected high degree of chromosome rearrangements during evolution of the bonytongues (Osteoglossiformes). Combining this new assembly with pool-sequencing of male and female genomes, we identified id2bbY, a duplicated copy of the inhibitor of DNA binding 2b (id2b) gene on the Y chromosome as candidate male sex-determining gene. A PCR-test for id2bbY was developed, demonstrating that this gene is a reliable male-specific marker for genotyping. Expression analyses showed that this gene is expressed in juvenile male gonads. Its paralog, id2ba, exhibits a male-biased expression in immature gonads. Transcriptome analyses and protein structure predictions confirm id2bbY as a prime candidate for the master sex-determiner. Acting through the TGFß signaling pathway, id2bbY from arapaima would provide the first evidence for a link of this family of transcriptional regulators to sex determination. Our study broadens our current understanding about the evolution of sex determination genetic networks and provide a tool for improving arapaima aquaculture for commercial and conservation purposes.


Assuntos
Peixes/genética , Peixes/fisiologia , Duplicação Gênica , Proteína 2 Inibidora de Diferenciação/genética , Proteína 2 Inibidora de Diferenciação/fisiologia , Cromossomos Sexuais , Animais , Mapeamento Cromossômico , Conservação dos Recursos Naturais , DNA/metabolismo , Evolução Molecular , Feminino , Pesqueiros , Marcadores Genéticos/genética , Genótipo , Masculino , Fenótipo , Filogenia , Reação em Cadeia da Polimerase , Estrutura Secundária de Proteína , Estrutura Terciária de Proteína , Análise de Sequência de DNA , Cromossomo Y
6.
BMC Genomics ; 22(1): 709, 2021 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-34598670

RESUMO

BACKGROUND: Tambaqui (Colossoma macropomum, Cuvier, 1818) is the most economically important native freshwater fish species in Brazil. It can reach a total length of over 1 m and a weight of over 40 kg. The species displays a clear sex dimorphism in growth performance, with females reaching larger sizes at harvest. In aquaculture, the production of monosex populations in selective breeding programmes has been therefore identified as a key priority. RESULTS: In the present study, a genetic linkage map was generated by double digest restriction-site associated DNA (ddRAD) sequencing from 248 individuals sampled from two F1 families. The map was constructed using 14,805 informative SNPs and spanned 27 linkage groups. From this, the tambaqui draft genome was improved, by ordering the scaffolds into chromosomes, and sex-linked markers were identified. A total of 235 markers on linkage group 26 showed a significant association with the phenotypic sex, supporting an XX/XY sex determination system in the species. The four most informative sex-linked markers were validated on another 206 sexed individuals, demonstrating an accuracy in predicting sex ranging from 90.0 to 96.7%. CONCLUSIONS: The genetic mapping and novel sex-linked DNA markers identified and validated offer new tools for rapid progeny sexing, thus supporting the development of monosex female production in the industry while also supporting breeding programmes of the species.


Assuntos
Caraciformes/genética , Caracteres Sexuais , Animais , Mapeamento Cromossômico , Feminino , Ligação Genética , Marcadores Genéticos , Masculino
8.
Genet Mol Biol ; 43(4): e20200006, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33174977

RESUMO

In the present study, the complete characterization of cDNA and genomic sequences of IL-1ß and IL-8, as well as the expression profile of these genes in the South American fish pacu (Piaractus mesopotamicus) is provided. The full-length pmIL-1ß cDNA was composed of 1208 nucleotides that would produce a precursor peptide with 273 amino acid residues. A putative caspase-1 cleavage site, similar to what is found in mammalian IL-1ß, was identified producing a mature peptide with a theoretical molecular weight of 17.21 kDa. The pmIL-8 cDNA sequence consisted of 1019 nucleotides which encoded a 95-amino acid protein with a theoretical molecular weight of 10.43 kDa that showed all typical CXC chemokine features, including a 20-residue signal peptide and four conserved cysteine residues. Constitutive mRNA expression was detected for both genes in the liver, head kidney, gill, intestine, skin and spleen. After a bacterial challenge, up-regulation was detected for both pmIL-1ß and pmIL-8 in the spleen and head kidney at 12 h post-infection. At 24 h post-infection there was a decrease in the expression of both genes, with pmIL-8 showing a significant down-regulation in the liver and head kidney when compared to the control groups.

9.
Front Cell Infect Microbiol ; 10: 525335, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33194783

RESUMO

Helicobacter pylori is a bacteria with high genome plasticity that has been associated with diverse gastric pathologies. The genetic diversity of this bacteria has limited the characterization of virulence factors associated with gastric cancer (GC). To identify potentially helpful disease biomarkers, we compared 38 complete genomes and 108 draft genomes of H. pylori isolated worldwide from patients with diverse gastric pathologies and 53 draft genomes of H. pylori isolated from Mexican patients with GC, intestinal metaplasia, gastritis, peptic ulcer, and dyspepsia. H. pylori strains isolated from GC were 3-11 times more likely to harbor any of seven genes encoded within an integrative and conjugative element (ICE) than H. pylori isolated from subjects with other gastric pathologies. We tested the cytopathic effects on AGS cells of selected H. pylori strains with known cytotoxin-associated gene pathogenicity island (cag-PAI) and ICE status (H. pylori strains 29CaP, 29CaCe, 62A9, 7C, 8822, and 26695) and the histopathological damage of H. pylori 29CaP and 62A9 in a mouse model. H. pylori 29CaP, which harbors a complete ICEHptfs3 but lacks cag-PAI, elicited distinctive morphology changes and higher histopathological scores compared with other H. pylori strains carrying cag-PAI and hybrid ICE with incomplete TFSS. The presence of intact segments of ICE regions might be a risk factor to develop GC that needs to be addressed in future studies.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Neoplasias Gástricas , Animais , Antígenos de Bactérias , Proteínas de Bactérias/genética , Helicobacter pylori/genética , Humanos , México , Camundongos , Fatores de Virulência/genética
10.
Am J Trop Med Hyg ; 103(6): 2347-2349, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33124543

RESUMO

It has been suggested that high altitude can reduce the infectivity and case fatality rate of COVID-19. We investigated the relationship between altitude and the COVID-19 pandemic in Colombia. Epidemiological data included the number of positive cases, deaths, and the case fatality rate of COVID-19. In particular, we analyzed data from 70 cities with altitudes between 1 and 3,180 m. Correlations and linear regression models adjusted to population density were performed to examine the relationship and contribution of altitude to epidemiological variables. The case fatality rate was negatively correlated with the altitude of the cities. The incidence of cases and deaths from COVID-19 had an apparent correlation with altitude; however, these variables were better explained by population density. In general, these findings suggest that living at high altitude can reduce the impact of COVID-19, especially the case fatality rate.


Assuntos
Altitude , COVID-19/epidemiologia , Pandemias , SARS-CoV-2/patogenicidade , COVID-19/diagnóstico , COVID-19/mortalidade , COVID-19/transmissão , Cidades , Colômbia/epidemiologia , Humanos , Incidência , Modelos Lineares , Densidade Demográfica , Análise de Sobrevida
11.
An Acad Bras Cienc ; 92(1): e20180496, 2020 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-32187273

RESUMO

Arapaima is a widely-distributed fish of enormous economic importance in the Amazon region. In the present study, a total of 232 specimens were sampled, 121 from five sites in the Amazon basin and 111 from five sites in the Tocantins-Araguaia basin. The analyses investigated fragments of the Cytochrome b, Control Region, Cytochrome Oxidase I, NADH dehydrogenase subunit 2 and seven loci microsatellites. The analyses revealed the existence of two mitochondrial lineages within the general area, with no haplotypes shared between basins, and genetic variability significantly higher in the Amazon than in the Tocantins-Araguaia basin. Two divergent, but sympatric mitochondrial lineages were found in the Amazon basin, but only a single lineage in the Tocantins-Araguaia basin. The existence of these two mitochondrial lineages indicates that past events, probably occurring during the Pleistocene, resulted in the separation of the populations of this species and molded its evolutionary history, which is reflected directly in its mitochondrial DNA. The analysis of the arapaima population structure identified distinct levels of diversity within the distribution of the species, indicating specific geographic regions that will require special attention for the development of conservation and management strategies.


Assuntos
DNA Mitocondrial/genética , Peixes/genética , Variação Genética/genética , Repetições de Microssatélites/genética , Animais , Brasil , Peixes/classificação , Geografia , Filogenia , Rios
12.
Rev. argent. cir ; 112(1): 16-22, mar. 2020. tab
Artigo em Inglês, Espanhol | LILACS | ID: biblio-1125777

RESUMO

Antecedentes: dada la mayor disponibilidad de estudios genéticos, en los últimos años se incrementaron significativamente las mastectomías de reducción de riesgo (MRR). Objetivo: analizar la experiencia institucional en MRR. Material y métodos: se tuvieron en cuenta las pacientes sanas sometidas a MRR bilateral simultánea y también las pacientes con antecedentes de cáncer de mama que luego fueron sometidas a MRR contralateral. No fueron tenidas en cuenta las mastectomías realizadas como tratamiento actual de un cáncer, pero sí la mastectomía contralateral. Resultados: se realizaron 70 MRR en 49 pacientes que cumplían con los criterios de inclusión para el análisis. La edad promedio fue de 44 años (rango 34-64). En 60 casos se conservó el complejo areola-pezón. En 50 casos, la reconstrucción mamaria fue con implante protésico directo. En 57 pacientes la incisión fue radiada en cuadrante superoexterno. En 57 casos no presentaron complicaciones y, de las restantessolo en 1 (1,4%) se perdió el implante. En un solo caso se detectó un carcinoma de mama oculto, y, en la evolución, una paciente desarrolló un carcinoma pequeño en la mama operada. Conclusión: la MRR es una alternativa válida y segura en mujeres con alto riesgo de cáncer de mama, pues logra disminuir en forma significativa la probabilidad de padecer la enfermedad, con buenos resultados estéticos y alto nivel de satisfacción.


Background: The number of risk-reducing mastectomies (RRM) has increased over the past years as genetic testing has become more readily available. Objective: The aim of this study was to analyze the experience of our institution with RRM. Material and methods: The analysis included healthy patients undergoing simultaneous bilateral RRM and those with a history of breast cancer who underwent contralateral RRM. Patients with mastectomies performed as treatment of breast cancer were not considered, but those with contralateral mastectomies were included. Results: Seventy RRM were performed in 49 patients who fulfilled the inclusion criteria for the analysis. Mean age was 44 years (range: 34-64). The nipple-areola complex was preserved in 60 cases. In 50 cases, a prosthesis was implanted for breast reconstruction during the same procedure. The breast was approach through a radial incision in the upper outer quadrant in 57 patients. Fifty-seven patients did not present complications, and in the rest of the cases the implant failed in only one (1.4%) case. An occult breast cancer was detected in only one patient. During follow-up, one patient developed a small carcinoma in the operated breast. Conclusion: RRM is a valid and safe option for women at high risk for breast cancer, since it significantly reduces the probability of developing the disease, with good aesthetic results and a high level of patient satisfaction.


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Neoplasias da Mama/cirurgia , Mastectomia/métodos , Argentina , Biópsia , Estudos Retrospectivos , Hospitais Universitários
13.
Rev Med Inst Mex Seguro Soc ; 58(Supl 2): S292-300, 2020 09 21.
Artigo em Espanhol | MEDLINE | ID: mdl-34695342

RESUMO

SARS-CoV-2 is a new virus causing an infection and illness referred to as COVID-19. As of July 7th of 2020, this virus has been associated worldwide with over 12 million of infections and more than 550,000 deaths. Transmission rate of SARS-CoV-2 in the population is high, and the origin of this coronavirus appears to be related to some species of the bat. However, scientific information related to the pathogenesis, and immune response to COVID-19 changes rapidly, which is why the aim of this work is to provide recent information related to an exacerbated inflammatory immune response which causes multiorgan failure and patient death. The timely identification of infected individuals will be key to stop the spread of infection and in severe cases to establish optimal strategies to reduce the risk of death in critically ill patients. In this review, we have considered the latest findings collected from the clinical studies, diagnostic tests, and treatment for COVID-19. Information presented here will help to the better understanding of this disease.


El SARS-CoV-2 es un nuevo virus que causa la enfermedad denominada COVID-19. Este virus ha generado hasta el 7 de julio de 2020 12 millones de contagios y más de 550 000 muertes en todo el mundo. Se sabe que la tasa de transmisión es muy alta y su origen está relacionado con una especie del murciélago. Sin embargo, la información científica relacionada con la COVID-19 cambia rápidamente, por lo que este trabajo tiene como objetivo aportar información reciente y relacionada con el desarrollo de la respuesta inflamatoria exacerbada, que con frecuencia causa falla orgánica múltiple y muerte del paciente. La rápida identificación de los individuos infectados es clave para detener la propagación de esta enfermedad y en los casos más graves establecer estrategias que permitan la reducción de la infección y del riesgo de muerte. En esta revisión, hemos considerado los últimos hallazgos recopilados de los estudios clínicos, pruebas diagnósticas y de tratamiento para COVID-19. La información presentada en este trabajo contribuirá al entendimiento de esta enfermedad.

14.
Rev. argent. mastología ; 38(140): 48-57, dic. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1116270

RESUMO

Objetivo El objetivo del presente trabajo es analizar la evolución de las pacientes sometidas a reconstrucción mamaria inmediata con implantes asistidos con mallas de poliglactina 910. Material y método Se colocaron 135 mallas de poliglactina en 100 pacientes. En 35 pacientes, la reconstrucción mamaria fue bilateral y en 65 casos fue unilateral. En 71 casos (52,6%), se realizó con implante mamario directo y en 64 (47,4%) con expansor tisular transitorio seguido de reemplazo por prótesis definitiva. En 87 casos (64,4%), la herida cutánea no estaba en contacto con la malla, y en 48 (35,6%) la malla estaba en contacto con el tejido celular subcutáneo y la herida quirúrgica. 18 reconstrucciones mamarias fueron realizadas en tejidos previamente irradiados mientras que 7 pacientes fueron irradiadas luego de la mastectomía. Resultados Se registraron 32 complicaciones en 25 pacientes. En 21 pacientes (84%), se requirió corrección quirúrgica. En total, fueron 7 implantes perdidos (5,2%), 5 de los cuales tenían antecedentes de radioterapia previa. Conclusiones Pudimos constatar la buena adaptación de las mallas de poliglactina a la técnica quirúrgica, permitiendo obtener buenos resultados iniciales con una adecuada tasa de complicaciones. Las pacientes con tratamientos radiantes son los más expuestos a complicaciones y pérdidas del implante


Objective To assess the outcomes in patients undergoing implant-based immediate breast reconstruction assisted with polyglactin 910 mesh. Materials and method 135 polyglactin meshes were placed in 100 patients. In 35 patients, breast reconstruction was bilateral and in 65 cases it was unilateral. The reconstruction was performed in 71 cases (52.6%) with a definitive breast implant and in 64 cases (47.4%) with a tissue expander followed later by its replacement for a definitive prosthesis. In 87 cases (64.4%) the wound was not in contact with the mesh, and in 48 (35.6%) the mesh was in contact with the subcutaneous cellular tissue and the surgical wound. 18 breast reconstructions were performed on previously irradiated tissues while 7 patients received postmastectomy radiotherapy. Results There were 32 complications in 25 patients. In 21 cases (84%) there was some surgical procedure required. There were 7 implants lost (5.2%), 5 of which belonged to patients that had previous radiotherapy history. Conclusions We acknowledge the good adaptation of the polyglactin meshes to the surgical technique, allowing to obtain good results with low complications rate. Patients with radiotherapy are the most exposed to complications and implant losses


Assuntos
Mamoplastia , Implantes de Mama , Mastectomia
15.
Rev. argent. mastología ; 38(139): 62-79, oct. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1116520

RESUMO

Introducción El cáncer de mama hereditario es el 10% de los cánceres mamarios a expensas principalmente de los genes brca 1 y 2. La identificación de pacientes de Alto Riesgo inicia el proceso de Asesoramiento Genético en Oncología (ago). Objetivo Presentar nuestra experiencia inicial de Asesoramiento Genético, evaluando las Estrategias de Reducción de Riesgo y las variables que influyeron en la toma de decisiones. Material y método Se analizaron en forma retrospectiva los registros clínicos de las pacientes consideradas de Alto Riesgo Heredo Familiar (arhf) que concurrieron a la consulta desde junio del año 2000 a enero de 2019. Las variables analizadas fueron: edad, antecedente personal de cáncer de mama, antecedentes familiares de cáncer de mama y ovario, derivación a ago, concurrencia a la consulta, solicitud de test genético, realización del mismo y Estrategia de Reducción de Riesgo adoptada. Resultados Analizamos 420 pacientes, 228 (54%) con cáncer de mama y 192 (46%) sanas. Fueron derivadas a ago 335 (80%) de las cuales concurrieron 224 (67%). Se les solicitó estudio genético a 195 (87%); de ellas 164 (84%) pudieron realizarlo, con el siguiente resultado: 46 fueron brca positivas, 90 negativas y 22 con Variantes de Significado Incierto. Se realizaron 68 (16%) Mastectomías de Reducción de Riesgo, 293 pacientes (70%) ingresaron en Vigilancia, 1 paciente en Quimioprevención y 58 pacientes (14%) quedaron pendientes. El 67% de las pacientes brca positivas eligieron cirugía. El estado brca positivo y la edad menor de 50 años fueron variables independientes significativas para la conducta quirúrgica. Conclusiones Las pacientes de Alto Riesgo deben ser tratadas en equipos multidisciplinarios a fin de optimizar el proceso de Asesoramiento Genético. La decisión de la Estrategia de Reducción de Riesgo puede estar influenciada por la edad, el antecedente personal de cáncer y un resultado brca mutado


Introduction Hereditary breast cancer is 10% of breast cancers at the expense mainly of the brca 1 and 2 genes. The identification of High Risk patients begins the process of Genetic Counseling in Oncology Objective We present our initial experience in the Genetic Counseling process, evaluating the Risk Reduction Strategies and the variables that influenced decision making. Materials and method We retrospectively analyzed the clinical records of patients considered to be High Risk Family Inheritance (arhf) who attended the consultation from June 2000 to January 2019. The variables analyzed were: age, personal history of breast cancer, family history of breast and ovarian cancer, referral to ago, attendance at the consultation, request for genetic testing, performance of the same and Risk Reduction Strategy adopted. Results We analyzed 420 patients, 228 (54%) with breast cancer and 192 (46%) healthy. 335 (80%) were referred to ago, 224 (67%) attended. 195 (87%) were asked for a genetic study and 164 (84%) were able to do it. Of these, 46 were brca Positive, 90 Negative and 22 with Variants of Uncertain Meaning. 68 (16%) Risk Reduction Mastectomies were performed, 293 (70%) chose Surveillance, 1 patient in Chemoprevention and 58 patients (14%) pending. 67% of brca + patients chose surgery. Positive brca status and age under 50 years were significant independent variables for surgical behavior. Conclusions High-risk patients should be treated in multidisciplinary teams in order to optimize the genetic counseling process. The decision of the Risk Reduction Strategy may be influenced by age, personal history of cancer and a mutated brca result


Assuntos
Neoplasias Ovarianas , Neoplasias da Mama , Genética
16.
Mol Immunol ; 112: 369-377, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31279218

RESUMO

Obesity is characterized by immune cell infiltration and inflammation. Purinergic receptors such as P2X1, 4 and 7 are expressed on immune cells and their activation contributes with an inflammatory response. However, the simultaneous expression of P2X1, 4 and 7 during overweight or obesity have not been described. Therefore, the aim of this study was to determine single and simultaneously expression and function of the P2X1, 4 and 7 receptors in lymphocytes and CD4 + T cells from peripheral blood (PB) and adipose tissue (AT). Our results showed a higher expression of the P2X4 receptor on CD4 + T cells from PB regarding P2X7 and P2X1 receptor expression. In addition, P2X4 receptor expression on CD4 + T cells from PB and AT was increased in individuals with BMI ≥ 25 Kg/m2. Moreover, a higher simultaneous expression of the P2X4 and P2X7 receptors on CD4 + T cells from AT compared to CD4 + T cells expressing P2X1 and P2X7 receptors simultaneously. Besides, CD4 + T cells expressing P2X4 and P2X7 receptors from PB and AT were augmented in individuals with BMI ≥ 25 Kg/m2. In addition, the percentage of lymphocytes and also CD4 + T cells expressing P2X4 receptor were elevated both in PB and AT compared to cells expressing P2X7 or P2X1. However, CD4 + T cells expressing P2X4 and P2X7 were augmented in AT compared to PB. The function of the receptors showed a lower shedding of CD62 L in adipose tissue mononuclear cells (ATMC) compared with peripheral blood mononuclear cells (PBMC) and a greater participation of P2X4 in the mobilization of intracellular calcium. We concluded that it was possible to determine for the first time the simultaneous expression of purinergic receptors in ATMC, where the P2X4 receptor has a greater participation in the activation of CD4 + T cells possibly modulating the function of the other two receptors.


Assuntos
Tecido Adiposo/metabolismo , Linfócitos T CD4-Positivos/metabolismo , Leucócitos Mononucleares/metabolismo , Receptores Purinérgicos P2X1/metabolismo , Receptores Purinérgicos P2X4/metabolismo , Receptores Purinérgicos P2X7/metabolismo , Trifosfato de Adenosina/metabolismo , Adulto , Cálcio/metabolismo , Células Cultivadas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
17.
Rev. argent. mastología ; 38(137): 38-52, abr. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1116958

RESUMO

Introducción Las pacientes con Carcinoma Ductal in Situ de mama (cdis) tienen mayor riesgo de desarrollar carcinoma invasor. Aquellas con receptores hormonales positivos se beneficiarían con hormonoterapia. El largo período de tratamiento y los efectos adversos asociados al mismo hacen dificultosa la adherencia. Objetivos El objetivo del presente trabajo es analizar la adherencia a la hormonoterapia en pacientes operadas por Carcinoma Ductal in Situ en el Hospital Universitario Austral. Material y método Es un estudio observacional, analítico, de corte transversal. Se incluyeron pacientes con diagnóstico de Carcinoma Ductal in Situ que fueron intervenidas quirúrgicamente en el Hospital Universitario Austral en el período comprendido entre el 24 de julio de 2000 y el 5 de julio de 2017. Los datos fueron recopilados a través de una encuesta. Resultados Se obtuvieron 100 encuestas. La adherencia fue del 82%. La misma no se modificó según edad, conocimiento de riesgos y beneficios del tratamiento, tipo y número de cirugías, radioterapia y número de consultas. Las reacciones adversas a la medicación fueron la causa más frecuente de abandono al tratamiento. Conclusiones El tratamiento multidisciplinario podría asegurar un óptimo nivel de adherencia


Introduction Patients with Ductal Carcinoma in Situ of the breast (dcis) have a higher risk of developing invasive carcinoma. Those with hormone receptor-positive would benefit from hormonal therapy. The long period of treatment and the associated adverse events make adherence difficult. Objectives The aim of this study is to analyze the adherence of hormonal therapy in operated patients with Ductal Carcinoma in Situ at Hospital Universitario Austral. Materials and method It is an observational, analytical and cross-sectional study. Patients diagnosed with Ductal Carcinoma in Situ who underwent surgery at Hospital Universitario Austral in the period between 07/24/2000 and 07/05/2017 were included. The data was collected through a survey. Results 100 surveys were obtained. The adherence was 82%. It was not modified according to age, knowledge of risks and benefits of the treatment, type and number of surgeries, radiotherapy and number of consultations. Adverse events were the most frequent cause of discontinue of treatment. Conclusions Multidisciplinary treatment could ensure an optimal level of adherence


Assuntos
Tamoxifeno , Neoplasias da Mama , Carcinoma Intraductal não Infiltrante
18.
BMC Genet ; 20(1): 13, 2019 01 28.
Artigo em Inglês | MEDLINE | ID: mdl-30691389

RESUMO

BACKGROUND: Arapaima gigas (Schinz, 1822) is the largest freshwater scaled fish in the world, and an emerging species for tropical aquaculture development. Conservation of the species, and the expansion of aquaculture requires the development of genetic tools to study polymorphism, differentiation, and stock structure. This study aimed to investigate genomic polymorphism through ddRAD sequencing, in order to identify a panel of single nucleotide polymorphisms (SNPs) and to simultaneously assess genetic diversity and structure in wild (from rivers Amazon, Solimões, Tocantins and Araguaia) and captive populations. RESULTS: Compared to many other teleosts, the degree of polymorphism in A. gigas was low with only 2.3% of identified RAD-tags (135 bases long) containing SNPs. A panel of 393 informative SNPs was identified and screened across the five populations. Higher genetic diversity indices (number of polymorphic loci and private alleles, Shannon's Index and HO) were found in populations from the Amazon and Solimões, intermediate levels in Tocantins and Captive, and very low levels in the Araguaia population. These results likely reflect larger population sizes from less urbanized environments in the Amazon basin compared to Araguaia. Populations were significantly differentiated with pairwise FST values ranging from 0.086 (Amazon × Solimões) to 0.556 (Amazon × Araguaia). Mean pairwise relatedness among individuals was significant in all populations (P < 0.01), reflecting a degree of inbreeding possibly due to severe depletion of natural stocks, the species sedentary behaviour and possible sampling biases. Although Mantel test was not significant (P = 0.104; R2 = 0.65), Bayesian analysis in STRUCTURE and discriminant analysis of principal components (DAPC) showed populations of Amazon and Solimões to be genetically differentiated from Araguaia, with Tocantins comprising individuals from both identified stocks. CONCLUSIONS: This relatively rapid genotyping by sequencing approach proved to be successful in delineating arapaima stocks. The approach and / or SNP panels identified should prove valuable for more detailed genetic studies of arapaima populations, including the elucidation of the genetic status of described discrete morphotypes and aid in delivery of conservation programs to maintain genetic diversity in reservoirs across the Amazon region.


Assuntos
Peixes/genética , Variação Genética , Rios , Animais , Conservação dos Recursos Naturais , DNA Mitocondrial/genética , Polimorfismo Genético
19.
Diabetes Metab Syndr ; 13(1): 582-589, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30641770

RESUMO

INTRODUCTION: Sirtuins regulate energy metabolism and insulin sensitivity through their ability to act as energy sensors and regulators in several metabolic tissues. AIM: To evaluate the expression levels of sirtuin genes SIRT1, SIRT2, SIRT3 and SIRT6 and their target genes (PPAR-α, PGC1-α, NRF1, DGAT1, PPAR-γ and FOXO3a) in subcutaneous adipose tissue collected from individuals with normoweight, overweight and obesity. METHODS: Adipose tissue samples, obtained by lipoaspiration during liposuction surgery, were processed to obtain RNA, which was reverse-transcribed to cDNA. Then, we measured the expression levels of each gene by qPCR. RESULTS: We found differences in the mRNA expression of SIRT1, SIRT2, SIRT3 and SIRT6 and their target genes (PPAR-α, PGC1-α, NRF1, DGAT1, PPAR-γ and FOXO3a) in adipose tissue from overweight or obese subjects when compared to normoweight subjects. All genes analyzed, except SIRT2, showed correlation with BMI. CONCLUSIONS: Our findings in human subcutaneous adipose tissue show that increased body mass index modifies the expression of genes encoding sirtuins and their target genes, which are metabolic regulators of adipose tissue. Therefore, these could be used as biomarkers to predict the ability of adipose tissue to gain mass of adipose tissue.


Assuntos
Tecido Adiposo/fisiologia , Obesidade/genética , Sirtuína 1/genética , Sirtuína 2/genética , Sirtuína 3/genética , Sirtuínas/genética , Adulto , Índice de Massa Corporal , Feminino , Humanos , Pessoa de Meia-Idade , Obesidade/diagnóstico , Obesidade/metabolismo , Sirtuína 1/biossíntese , Sirtuína 2/biossíntese , Sirtuína 3/biossíntese , Sirtuínas/biossíntese , Adulto Jovem
20.
Rev. argent. mastología ; 37(136): 57-90, oct. 2018. tab, graf
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1117927

RESUMO

Introducción El cáncer de mama (cm) es la principal causa de muerte por enfermedad oncológica en mujeres. Con el aumento de su incidencia y de las tasas de sobrevida, resulta importante evaluar los efectos de la enfermedad en la calidad de vida (cv) de las pacientes. Objetivos Medir el impacto del diagnóstico y tratamientos del cm en la cv de las pacientes e identificar factores de riesgo (fr) para la afectación de las distintas dimensiones de la cv, a fin de brindar mejor contención e implementar medidas específicas. Material y método Es un estudio observacional, analítico, transversal. Se incluyeron pacientes con diagnóstico y tratamientos por cm en tiempos y lugares variables, tratadas actualmente en el Centro Mamario del Hospital Universitario Austral. La información se obtuvo a través de encuestas anónimas, que incluían dos cuestionarios que evaluaban cv en cáncer (eortc qlq-c30) y en cm específicamente (eortc qlq-br23) y un cuestionario propio. Resultados Se obtuvieron 171 encuestas. El promedio de cv fue bueno en todos los grupos. La escala de funcionamiento emocional fue la más afectada. Los síntomas más frecuentes fueron: fatiga e insomnio. El funcionamiento sexual y la preocupación por el futuro fueron las áreas de mayor afectación en el cuestionario específico de cm. Los síntomas específicos más reportados fueron las molestias por la pérdida del cabello. Logramos identificar al menos 10 fr con diferencias estadísticamente significativas. Conclusiones Resulta fundamental el conocimiento de la población tratada para medir el impacto de la enfermedad y de sus tratamientos y para reconocer los grupos más vulnerables. Esto permite no solo implementar medidas para mejorar la cv de las pacientes sino también mejorar la relación médicopaciente


Introduction Breast cancer (bc) is the main cause of death due to malignancy in women. With its rising incidence and prolonged survival rates, it is important to assess its effect on quality of life (qol) on women. Objectives To measure the impact of bc diagnosis and treatments on patients' qol and to identify wich risk factors (rf) play a role on qol, in orther to better understand, improve and develop patient centered care strategies. Materials and method This is a cross-sectional observational study of women with a diagnosis of bc who received treatment at different institutions, with different followup times, that are currently treated at the Breast Center of the Hospital Universitario Austral. Patients were evaluated via anonymous surveys, which included two questionnaires that evaluated qol in cancer (eortc qlq-c30) and in bc specifically (eortc qlq-br23), and a personalized questionnaire of our own. Results 171 surveys were obtained. The average qol was scored good among all groups. The emotional functioning scale was the most affected. The most frequent symptoms experienced were fatigue and insomnia. Sexual functioning and future perspectives were the most affected areas in the specific bc questionnaire. The specific symptom most commonly reported was upset by hair loss. At least 10 rf with statistically significant differences were identified. Conclusions Knowledge of the treated population is essential to assess the impact of the disease and its treatments, and to know the most vulnerable groups. This allows, not only the implementation of actions to improve patients' qol, but also to improve the doctor-patient relationship


Assuntos
Relações Médico-Paciente , Qualidade de Vida , Neoplasias da Mama
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