Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 255
Filtrar
1.
EJVES Vasc Forum ; 61: 99-103, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38560760

RESUMO

Introduction: Horseshoe kidney (HK) is an anatomical variant characterised by abnormalities in the position, rotation, and vascular supply of the kidney, with functioning renal masses on both sides of the vertebral column fused together at the isthmus. Due to the altered pattern of kidney vasculature, endovascular aortic repair for aortic abdominal aneurysm (AAA) in the presence of HK requires vascular anatomy specific planning. Report: A 68 year old male, with multiple comorbidities, presented with an asymptomatic AAA and HK. The kidney vasculature was characterised by the presence of three arteries: two arising laterally at the same level and a third polar artery arising from below. The polar artery was 6 mm in diameter and larger than the other two; therefore, in order to preserve this artery, a custom-made device with a single side branch was implanted below the main renal arteries. A balloon expandable covered stent was used to complete the side branch into the polar renal artery. The follow-up computed tomography angiography revealed a successful outcome, with total aneurysm exclusion, branched graft patency, no endoleak, and unchanged renal function. Discussion: This case report shows a possible surgical solution for a case of HK with AAA and the importance of accurate endovascular planning. Large polar arteries, if present, need to be preserved, and custom-made devices in the modern endovascular era permit that. This approach could represent the best option for complicated patients.

2.
Acta Neurochir (Wien) ; 166(1): 73, 2024 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-38329587

RESUMO

BACKGROUND: Chronic low back pain (CLBP) is a complex condition in which genetic factors play a role in its susceptibility. Catechol-O-methyltransferase (COMT) and sodium channel NaV1.7 (SCN9A) genes are implicated in pain perception. The aim is to analyze the association of COMT and SCN9A with CLBP and their interaction, in a Mexican-Mestizo population. METHODS: A case-control study was conducted. Cases corresponded to adults of both sexes with CLBP. Controls were adults with no CLBP. Variants of SCN9A and COMT were genotyped. Allelic and genotypic frequencies and Hardy-Weinberg equilibrium (HWE) were calculated. Association was tested under codominant, dominant, and recessive models. Multifactor dimensionality reduction was developed to detect epistasis. RESULTS: Gene variants were in HWE, and there was no association under different inheritance models in the whole sample. In women, in codominant and dominant models, a trend to a high risk was observed for AA of rs4680 of COMT (OR = 1.7 [0.5-5.3] and 1.6 [0.7-3.4]) and for TT of rs4633 (OR = 1.6 [0.7-3.7] and 1.6 [0.7-3.4]). In men, a trend to low risk was observed for AG genotype of rs4680 in the same models (OR = 0.6 [0.2-1.7] and 0.7 [0.3-1.7]), and for TC genotype of rs4633 in the codominant model (OR = 0.6 [0.2-1.7]). In the interaction analysis, a model of the SCN9A and COMT variants showed a CVC of 10/10; however, the TA was 0.4141. CONCLUSION: COMT and SCN9A variants are not associated with CLBP in the analyzed Mexican-Mestizo population.


Assuntos
Catecol O-Metiltransferase , Dor Lombar , Canal de Sódio Disparado por Voltagem NAV1.7 , Adulto , Feminino , Humanos , Masculino , Estudos de Casos e Controles , Catecol O-Metiltransferase/genética , Dor Lombar/genética , Canal de Sódio Disparado por Voltagem NAV1.7/genética
3.
Front Neurol ; 15: 1309173, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38361645

RESUMO

The thymus is the primary lymphoid organ responsible for the maturation and proliferation of T lymphocytes. During the first years of our lives, the activation and inactivation of T lymphocytes occur within the thymus, facilitating the correct maturation of central immunity. Alterations in the positive and negative selection of T lymphocytes have been studied as the possible origins of autoimmune diseases, with Myasthenia Gravis (MG) being the most representative example. Structural alterations in the thymus appear to be involved in the initial autoimmune response observed in MG, leading to the consideration of thymectomy as part of the treatment for the disease. However, the role of thymectomy in MG has been a subject of controversy for many years. Several publications raised doubts about the lack of evidence justifying thymectomy's role in MG until 2016 when a randomized study comparing thymectomy via sternotomy plus prednisone versus prednisone alone was published in the New England Journal of Medicine (NEJM). The results clearly favored the group of patients who underwent surgery, showing improvements in symptoms, reduced corticosteroid requirements, and fewer recurrences over 3 years of follow-up. In recent years, the emergence of less invasive surgical techniques has made video-assisted or robotic-assisted thoracoscopic (VATS/RATS) thymectomy more common, replacing the traditional sternotomy approach. Despite the increasing use of VATS, it has not been validated as a technique with lower morbidity compared to sternotomy in the treatment of MG. The results of the 2016 trial highlighted the benefits of thymectomy, but all the patients underwent surgery via sternotomy. Our hypothesis is that VATS thymectomy is a technique with lower morbidity, reduced postoperative pain, and shorter postoperative hospital stays than sternotomy. Additionally, VATS offers better clinical improvement in patients with MG. The primary objective of this study is to validate the VATS technique as the preferred approach for thymectomy. Furthermore, we aim to analyze the impact of VATS thymectomy on symptoms and corticosteroid dosage in patients with MG, identifying factors that may predict a better response to surgery.

4.
Biomed Res Int ; 2024: 2052766, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38249632

RESUMO

Background: Diabetic retinopathy (DR) risk has been shown to vary depending on ethnic backgrounds, and thus, it is worthy that underrepresented populations are analyzed for the potential identification of DR-associated genetic variants. We conducted a case-control study for the identification of DR-risk variants in Mexican population. Methods: We ascertained 60 type 2 diabetes mellitus (T2DM) patients. Cases (n = 30) were patients with advanced proliferative DR (PDR) with less than 15 years after a T2DM diagnosis while controls (n = 30) were patients with no DR 15 years after the diagnosis of T2DM. Exome sequencing was performed in all patients, and the frequency of rare variants was compared. In addition, the frequency of variants occurring in a set of 169 DR-associated genes were compared. Results: Statistically significant differences were identified for rare missense and splice variants and for rare splice variants occurring more than once in either group. A strong statistical difference was observed when the number of rare missense variants with an aggregated prediction of pathogenicity and occurring more than once in either group was compared (p = 0.0035). Moreover, 8 variants identified more than once in either group, occurring in previously identified DR-associated genes were recognized. The p.Pro234Ser KIR2DS4 variant showed a strong protective effect (OR = 0.04 [0.001-0.36]; p = 0.04). Conclusions: Our study showed an enrichment of rare splice acceptor/donor variants in patients with PDR and identified a potential protective variant in KIR2DS4. Although statistical significance was not reached, our results support the replication of 8 previously identified DR-associated genes.


Assuntos
Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Humanos , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/genética , Retinopatia Diabética/genética , Sequenciamento do Exoma , Fenótipo
5.
Vet Clin Pathol ; 53(1): 93-98, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38240087

RESUMO

BACKGROUND: The diagnosis of multiple myeloma (MM) in dogs may be challenging and complex. The cell blocks are a diagnostic technique that allows the characterization of neoplastic cells and, therefore, might help in the diagnosis of atypical MM. OBJECTIVE: The objective of the present work is to describe three clinical cases in which the cell blocks and immunohistochemistry contributed to the definitive diagnosis of canine MM. METHODS: Three dogs, one female and two males, with different clinical signs, were presented for consultation with anemia, hyperproteinemia with monoclonal gammopathy, and the presence of plasmacytosis in the bone marrow. Cytologic analysis of the spleen was performed in two dogs and was suggestive of the presence of lymphocytes or plasma cells of a neoplastic nature in one of the cases and plasma cell hyperplasia associated with extramedullary hematopoiesis in the other. Given the hypotheses of lymphoid neoplasms with a plasma cell phenotype, cell blocks from aspiration punctures were performed for immunohistochemical analysis with anti-CD3, CD20, CD79αcy, PAX5, and MUM1 antibodies. RESULTS: The results revealed positive staining for MUM1 in 80% of the cells in the spleen cell block and for CD20 and MUM1 in 70% of the cells in the bone marrow cell blocks, with negative staining for the other antibodies. The immunophenotyping results allowed the diagnosis of MM in the three cases and excluded other lymphoid neoplasms. CONCLUSIONS: This work reinforces the importance of using cell blocks in the diagnosis of neoplasms by demonstrating their potential to aid the diagnosis of MM.


Assuntos
Doenças do Cão , Linfoma , Mieloma Múltiplo , Paraproteinemias , Masculino , Cães , Animais , Feminino , Mieloma Múltiplo/veterinária , Plasmócitos , Paraproteinemias/veterinária , Linfoma/veterinária , Imuno-Histoquímica , Doenças do Cão/diagnóstico
6.
Nature ; 624(7991): 366-377, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38092913

RESUMO

Cytosine DNA methylation is essential in brain development and is implicated in various neurological disorders. Understanding DNA methylation diversity across the entire brain in a spatial context is fundamental for a complete molecular atlas of brain cell types and their gene regulatory landscapes. Here we used single-nucleus methylome sequencing (snmC-seq3) and multi-omic sequencing (snm3C-seq)1 technologies to generate 301,626 methylomes and 176,003 chromatin conformation-methylome joint profiles from 117 dissected regions throughout the adult mouse brain. Using iterative clustering and integrating with companion whole-brain transcriptome and chromatin accessibility datasets, we constructed a methylation-based cell taxonomy with 4,673 cell groups and 274 cross-modality-annotated subclasses. We identified 2.6 million differentially methylated regions across the genome that represent potential gene regulation elements. Notably, we observed spatial cytosine methylation patterns on both genes and regulatory elements in cell types within and across brain regions. Brain-wide spatial transcriptomics data validated the association of spatial epigenetic diversity with transcription and improved the anatomical mapping of our epigenetic datasets. Furthermore, chromatin conformation diversities occurred in important neuronal genes and were highly associated with DNA methylation and transcription changes. Brain-wide cell-type comparisons enabled the construction of regulatory networks that incorporate transcription factors, regulatory elements and their potential downstream gene targets. Finally, intragenic DNA methylation and chromatin conformation patterns predicted alternative gene isoform expression observed in a whole-brain SMART-seq2 dataset. Our study establishes a brain-wide, single-cell DNA methylome and 3D multi-omic atlas and provides a valuable resource for comprehending the cellular-spatial and regulatory genome diversity of the mouse brain.


Assuntos
Encéfalo , Metilação de DNA , Epigenoma , Multiômica , Análise de Célula Única , Animais , Camundongos , Encéfalo/citologia , Encéfalo/metabolismo , Cromatina/química , Cromatina/genética , Cromatina/metabolismo , Citosina/metabolismo , Conjuntos de Dados como Assunto , Fatores de Transcrição/metabolismo , Transcrição Gênica
7.
Nature ; 624(7991): 378-389, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38092917

RESUMO

Recent advances in single-cell technologies have led to the discovery of thousands of brain cell types; however, our understanding of the gene regulatory programs in these cell types is far from complete1-4. Here we report a comprehensive atlas of candidate cis-regulatory DNA elements (cCREs) in the adult mouse brain, generated by analysing chromatin accessibility in 2.3 million individual brain cells from 117 anatomical dissections. The atlas includes approximately 1 million cCREs and their chromatin accessibility across 1,482 distinct brain cell populations, adding over 446,000 cCREs to the most recent such annotation in the mouse genome. The mouse brain cCREs are moderately conserved in the human brain. The mouse-specific cCREs-specifically, those identified from a subset of cortical excitatory neurons-are strongly enriched for transposable elements, suggesting a potential role for transposable elements in the emergence of new regulatory programs and neuronal diversity. Finally, we infer the gene regulatory networks in over 260 subclasses of mouse brain cells and develop deep-learning models to predict the activities of gene regulatory elements in different brain cell types from the DNA sequence alone. Our results provide a resource for the analysis of cell-type-specific gene regulation programs in both mouse and human brains.


Assuntos
Encéfalo , Cromatina , Análise de Célula Única , Animais , Humanos , Camundongos , Encéfalo/citologia , Encéfalo/metabolismo , Córtex Cerebral/citologia , Cromatina/química , Cromatina/genética , Cromatina/metabolismo , Aprendizado Profundo , Elementos de DNA Transponíveis/genética , Redes Reguladoras de Genes/genética , Neurônios/metabolismo
8.
Science ; 382(6667): eadf7044, 2023 10 13.
Artigo em Inglês | MEDLINE | ID: mdl-37824643

RESUMO

Recent advances in single-cell transcriptomics have illuminated the diverse neuronal and glial cell types within the human brain. However, the regulatory programs governing cell identity and function remain unclear. Using a single-nucleus assay for transposase-accessible chromatin using sequencing (snATAC-seq), we explored open chromatin landscapes across 1.1 million cells in 42 brain regions from three adults. Integrating this data unveiled 107 distinct cell types and their specific utilization of 544,735 candidate cis-regulatory DNA elements (cCREs) in the human genome. Nearly a third of the cCREs demonstrated conservation and chromatin accessibility in the mouse brain cells. We reveal strong links between specific brain cell types and neuropsychiatric disorders including schizophrenia, bipolar disorder, Alzheimer's disease (AD), and major depression, and have developed deep learning models to predict the regulatory roles of noncoding risk variants in these disorders.


Assuntos
Atlas como Assunto , Encéfalo , Cromatina , Animais , Humanos , Camundongos , Encéfalo/citologia , Encéfalo/metabolismo , Cromatina/metabolismo , DNA/metabolismo , Neurônios/metabolismo , Sequências Reguladoras de Ácido Nucleico/genética , Análise de Célula Única
10.
Rev. bras. cir. plást ; 38(3): 1-6, jul.set.2023. ilus
Artigo em Inglês, Português | LILACS-Express | LILACS | ID: biblio-1525366

RESUMO

Introdução: O uso da corrente elétrica é imprescindível nas nossas atividades do cotidiano, porém, seu contato com tecidos vivos pode provocar queimaduras desde leves até graves ou fatais. Por se tratar de um problema de saúde pública, o conhecimento de sua epidemiologia é essencial para o desenvolvimento de programas em saúde. Método: Estudo transversal de dados registrados nos prontuários dos pacientes atendidos por queimadura elétrica na Unidade de Queimados do Hospital de Clínicas da Universidade Federal de Uberlândia entre os anos de 2013 e 2019. Resultados: Foram admitidos 26 pacientes, a maioria de sexo masculino (76,9%) e adultos (30,7%), vítimas de corrente de alta voltagem (65,4%) no trabalho (57,7%), que mais afetou as extremidades superiores (80,7%), sendo as crianças todas do sexo feminino (15,3%). O percentual médio de área queimada foi de 14,5% e o percentual de tratados com autoenxerto de pele foi de 53,8%. A média de permanência hospitalar foi de 40 dias e 3,8% deles foram para a Unidade de Terapia Intensiva. Não se registraram óbitos durante o período. Conclusão: A incidência de pacientes atendidos por queimadura elétrica é baixa, acometendo vítimas em todas as faixas etárias e com predomínio em indivíduos adultos do sexo masculino em seu local de trabalho. O tratamento cirúrgico mais realizado foi o autoenxerto de pele. As políticas de promoção, prevenção e proteção em saúde no que diz respeito aos perigos da corrente elétricas não estariam sendo praticadas e difundidas em nossa população doméstica, laboral ou empregadora, diferentemente como ocorre em grande parte dos países desenvolvidos.


Introduction: Using electric current is essential in our daily activities; however, its contact with living tissue can cause mild to severe or fatal burns. As it is a public health problem, knowledge of its epidemiology is essential for the development of health programs. Method: Cross-sectional study of data recorded in the medical records of patients treated for electrical burns at the Burns Unit of the Hospital de Clínicas of the Universidade Federal de Uberlândia between 2013 and 2019. Results: 26 patients were admitted, the majority of whom were male (76 .9%) and adults (30.7%), victims of high voltage current (65.4%) at work (57.7%), which most affected the upper extremities (80.7%), with children all female (15.3%). The average percentage of burned area was 14. 5% and the % of those treated with skin autograft was 53.8%. The average hospital stay was 40 days, and 3.8% went to the Intensive Care Unit. No deaths were recorded during the period. Conclusion: The incidence of patients treated for electrical burns is low, affecting victims in all age groups and with a predominance of adult males in their workplace. The most common surgical treatment was skin autograft. Health promotion, prevention, and protection policies regarding the dangers of electrical currents would not be practiced and disseminated among our domestic, working, or employing population, unlike what occurs in most developed countries.

11.
Cell Genom ; 3(7): 100342, 2023 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-37492103

RESUMO

Single-cell sequencing could help to solve the fundamental challenge of linking millions of cell-type-specific enhancers with their target genes. However, this task is confounded by patterns of gene co-expression in much the same way that genetic correlation due to linkage disequilibrium confounds fine-mapping in genome-wide association studies (GWAS). We developed a non-parametric permutation-based procedure to establish stringent statistical criteria to control the risk of false-positive associations in enhancer-gene association studies (EGAS). We applied our procedure to large-scale transcriptome and epigenome data from multiple tissues and species, including the mouse and human brain, to predict enhancer-gene associations genome wide. We tested the functional validity of our predictions by comparing them with chromatin conformation data and causal enhancer perturbation experiments. Our study shows how controlling for gene co-expression enables robust enhancer-gene linkage using single-cell sequencing data.

12.
bioRxiv ; 2023 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-37131654

RESUMO

Cytosine DNA methylation is essential in brain development and has been implicated in various neurological disorders. A comprehensive understanding of DNA methylation diversity across the entire brain in the context of the brain's 3D spatial organization is essential for building a complete molecular atlas of brain cell types and understanding their gene regulatory landscapes. To this end, we employed optimized single-nucleus methylome (snmC-seq3) and multi-omic (snm3C-seq1) sequencing technologies to generate 301,626 methylomes and 176,003 chromatin conformation/methylome joint profiles from 117 dissected regions throughout the adult mouse brain. Using iterative clustering and integrating with companion whole-brain transcriptome and chromatin accessibility datasets, we constructed a methylation-based cell type taxonomy that contains 4,673 cell groups and 261 cross-modality-annotated subclasses. We identified millions of differentially methylated regions (DMRs) across the genome, representing potential gene regulation elements. Notably, we observed spatial cytosine methylation patterns on both genes and regulatory elements in cell types within and across brain regions. Brain-wide multiplexed error-robust fluorescence in situ hybridization (MERFISH2) data validated the association of this spatial epigenetic diversity with transcription and allowed the mapping of the DNA methylation and topology information into anatomical structures more precisely than our dissections. Furthermore, multi-scale chromatin conformation diversities occur in important neuronal genes, highly associated with DNA methylation and transcription changes. Brain-wide cell type comparison allowed us to build a regulatory model for each gene, linking transcription factors, DMRs, chromatin contacts, and downstream genes to establish regulatory networks. Finally, intragenic DNA methylation and chromatin conformation patterns predicted alternative gene isoform expression observed in a companion whole-brain SMART-seq3 dataset. Our study establishes the first brain-wide, single-cell resolution DNA methylome and 3D multi-omic atlas, providing an unparalleled resource for comprehending the mouse brain's cellular-spatial and regulatory genome diversity.

13.
Materials (Basel) ; 16(8)2023 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-37109923

RESUMO

This paper presents a literature review on the effects of accelerated carbonation on alkali-activated materials. It attempts to provide a greater understanding of the influence of CO2 curing on the chemical and physical properties of various types of alkali-activated binders used in pastes, mortars, and concrete. Several aspects related to changes in chemistry and mineralogy have been carefully identified and discussed, including depth of CO2 interaction, sequestration, reactions with calcium-based phases (e.g., calcium hydroxide and calcium silicate hydrates and calcium aluminosilicate hydrates), as well as other aspects related to the chemical composition of alkali-activated materials. Emphasis has also been given to physical alterations such as volumetric changes, density, porosity, and other microstructural properties caused by induced carbonation. Moreover, this paper reviews the influence of the accelerated carbonation curing method on the strength development of alkali-activated materials, which has been awarded little attention considering its potential. This curing technique was found to contribute to the strength development mainly through decalcification of the Ca phases existing in the alkali-activated precursor, leading to the formation of CaCO3, which leads to microstructural densification. Interestingly, this curing method seems to have much to offer in terms of mechanical performance, making it an attractive curing solution that can compensate for the loss in performance caused by less efficient alkali-activated binders replacing Portland cement. Optimising the application of such CO2-based curing methods for each of the potential alkali-activated binders is recommended for future studies for maximum microstructural improvement, and thus mechanical enhancement, to make some of the "low-performing binders" adequate Portland cement substitutes.

14.
Ceska Slov Farm ; 72(1): 11-20, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36858976

RESUMO

This study provides new empirical evidence on the changes in competition and entry decisions of pharmacies after regulatory changes. It investigates the development of the retail pharmacy market in Portugal, which underwent major regulatory changes in 2004 and 2007. Sale of OTC drugs and ownership of pharmacies were liberalized while entry restrictions related to market size and the location of new pharmacies prevailed. Our empirical strategy was based on entry models and provided indirect information on the toughness of competition and entry decisions of firms in the market. We estimated and compared the entry thresholds and their ratios before and after liberalization. Such a comparison allows to see if competition got tenser with OTC drugs deregulated. There were three main findings from the study. First, the entry thresholds decreased regardless of the number of pharmacies in the market, suggesting that room for the realization of profits is broader than it was in the past. Second, although the entry thresholds were lower in value, their increase was steeper with each incumbent in 2020, suggesting harsher price competition with new entrants. Third, the current rule of 3,500 patients per pharmacy is likely overly restrictive, pharmacies could break-even even in smaller markets.


Assuntos
Assistência Farmacêutica , Farmácias , Farmácia , Humanos , Propriedade , Comércio
15.
Materials (Basel) ; 16(5)2023 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-36903038

RESUMO

Three industrial aluminosilicate wastes were studied as precursors to produce alkali-activated concrete: (i) electric arc furnace slag, (ii) municipal solid waste incineration bottom ashes, and (iii) waste glass rejects. These were characterized via X-ray diffraction and fluorescence, laser particle size distribution, thermogravimetric, and Fourier-transform infrared analyses. Distinctive combinations of anhydrous sodium hydroxide and sodium silicate solution were tried by varying the Na2O/binder ratio (8%, 10%, 12%, 14%) and SiO2/Na2O ratio (0, 0.5, 1.0, 1.5) to find the optimum solution for maximized mechanical performance. Specimens were produced and subjected to a three-step curing process: (1) 24 h thermal curing (70 °C), (2) followed by 21 days of dry curing in a climatic chamber (~21 °C, 65% RH), and (3) ending with a 7-day carbonation curing stage (5 ± 0.2% CO2; 65 ± 10% RH). Compressive and flexural strength tests were performed, to ascertain the mix with the best mechanical performance. The precursors showed reasonable bonding capabilities, thus suggesting some reactivity when alkali-activated due to the presence of amorphous phases. Mixes with slag and glass showed compressive strengths of almost 40 MPa. Most mixes required a higher Na2O/binder ratio for maximized performance, even though, contrary to expectations, the opposite was observed for the SiO2/Na2O ratio.

16.
Cells ; 12(4)2023 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-36831251

RESUMO

The TBX20 gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). The purpose of this study was to assess the association between DNA methylation status and congenital septal defects. The DNA methylation of seven CpG sites in the TBX20 gene promoter was analyzed through pyrosequencing as a quantitative method in 48 patients with congenital septal defects and 104 individuals with patent ductus arteriosus (PDA). The average methylation was higher in patients than in PDA (p < 0.001). High methylation levels were associated with a higher risk of congenital septal defects (OR = 4.59, 95% CI = 1.57-13.44, p = 0.005). The ROC curve analysis indicated that methylation of the TBX20 gene could be considered a risk marker for congenital septal defects (AUC = 0.682; 95% CI = 0.58-0.77; p < 0.001). The analysis of environmental risk factors in patients with septal defects and PDA showed an association between the consumption of vitamins (OR = 0.10; 95% CI = 0.01-0.98; p = 0.048) and maternal infections (OR = 3.10; 95% CI = 1.26-7.60; p = 0.013). These results suggest that differences in DNA methylation of the TBX20 gene can be associated with septal defects.


Assuntos
Permeabilidade do Canal Arterial , Cardiopatias Congênitas , Proteínas com Domínio T , Criança , Humanos , Epigênese Genética , Cardiopatias Congênitas/genética , Regiões Promotoras Genéticas , Fatores de Risco , Proteínas com Domínio T/genética
17.
Cir. Esp. (Ed. impr.) ; 101(2): 80-89, feb. 2023. ilus, graf, tab
Artigo em Espanhol | IBECS | ID: ibc-215349

RESUMO

Introducción: La presencia de metástasis hepáticas en pacientes con sarcomas se asocia a peor pronóstico, aunque en casos seleccionados la resección de dichas metástasis se ha propuesto para aumentar la supervivencia. El objetivo de este estudio es describir la evolución postoperatoria y los resultados oncológicos tras la resección hepática. Métodos: Se presenta un estudio retrospectivo unicéntrico. Se incluyen pacientes diagnosticados de metástasis hepáticas de sarcoma intervenidos quirúrgicamente entre 2003-2019. Los criterios de inclusión fueron la presencia de enfermedad resecable, la presencia de enfermedad extrahepática controlada no se consideró criterio de irresecabilidad. Resultados: Diecinueve pacientes se sometieron a resección hepática de 7 tipos distintos de estirpes sarcomatosas. La mediana de edad fue de 58 años. Las metástasis se diagnosticaron 25 meses de mediana tras el primario, 6 (32%) presentaron lesiones sincrónicas y 12 (63%) estaban afectos de enfermedad extrahepática. Se realizó hepatectomía mayor en 5 (26%) pacientes; se describieron 8 (42%) complicaciones menores. La mediana de seguimiento fue de 33 meses. El análisis de supervivencia se realizó estratificando en 2 grupos, la supervivencia fue del 100%, 85,7% y del 42,9% al año, a los 3 años y a los 5 años, en los no-GIST, y del 100% y del 40% a los 5 y 10 años en los GIST. Conclusiones: El abordaje quirúrgico de las metástasis hepáticas de sarcoma parece aumentar la supervivencia en pacientes seleccionados, asociando pocas complicaciones. En nuestra serie, la tasa de enfermedad extrahepática es elevada en comparación con series previas, no obstante la supervivencia es equiparable. Dichos resultados apoyan la resección hepática en pacientes con enfermedad extrahepática estable. (AU)


Introduction: The presence of liver metastases in sarcomatous tumors is associated with poor prognosis. However, in selected patients, surgical resection has been suggested as a tool to improve survival rates. The aim of our study is to describe postoperative and oncological outcomes after liver resection. Methods: A retrospective unicentric study was conducted including patients diagnosed with hepatic metastases from soft tissue sarcoma who underwent hepatic resection between 2003 and 2019. The inclusion criteria were the presence of resectable disease, including synchronic and metachronic lesions. The presence of extra-hepatic controlled disease was not considered unresectable. Results: Nineteen patients underwent liver resection for liver metastasis of 7 different sarcomatous subtypes. Median age was 58-yo. Liver metastases were diagnosed a median 25 months after primary tumor diagnosis. Six patients (32%) suffered of synchronic metastases and 12 (63%) were affected of extrahepatic disease. Major hepatectomy was done in 5 (26%) patients, 8 (42%) minor complications were described. Median follow-up was 33 months. Survival analysis was performed independently for, GIST tumors and non-GIST sarcomas. One, three and five-year survival rate was 100%, 85.7% and 42.9% in non-GIST sarcomas, while five and ten-year survival rate was 100% and 40% in GIST, respectively. Conclusions: Surgical approach of liver metastases of sarcomatous tumors seems to be useful in order to improve survival in selected patients, while associated to be of low complications rate. In our cohort, extrahepatic disease rate is high in comparison with series published before, nevertheless survival is comparable. These results support performing surgical resection in selected patients with stable extrahepatic disease. (AU)


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Metástase Neoplásica , Tumores do Estroma Gastrointestinal , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/tratamento farmacológico , Estudos Retrospectivos , Sarcoma
18.
Cir Esp (Engl Ed) ; 101(2): 80-89, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35901963

RESUMO

INTRODUCTION: The presence of liver metastases in sarcomatous tumors is associated with poor prognosis. However, in selected patients, surgical resection has been suggested as a tool to improve survival rates. The aim of our study is to describe postoperative and oncological outcomes after liver resection. METHODS: A retrospective unicentric study was conducted including patients diagnosed with hepatic metastases from soft tissue sarcoma who underwent hepatic resection between 2003-2019. The inclusion criteria were the presence of resectable disease, including synchronic and metachronic lesions. The presence of extra-hepatic controlled disease was not considered unresectable. RESULTS: Nineteen patients underwent liver resection for liver metastasis of 7 different sarcomatous subtypes. Median age was 58-years. Liver metastases were diagnosed a median 25 months after primary tumor diagnosis. Six patients (32%) suffered of synchronic metastases and 12 (63%) were affected of extrahepatic disease. Major hepatectomy was done in 5 (26 %) patients, 8 (42%) minor complications were described. Median follow-up was 33 months. Survival analysis was performed independently for, GIST tumors and non-GIST sarcomas. One, three and five-year survival rate was 100%, 85.7% and 42.9% in non-GIST sarcomas, while Five and ten-year survival rate was 100% and 40% in GIST, respectively. CONCLUSION: Surgical approach of liver metastases of sarcomatous tumors seems to be useful in order to improve survival in selected patients, while been associated to low complications rate. In our cohort, extrahepatic disease rate is high in comparison with series published before, nevertheless survival is comparable. These results support performing surgical resection in selected patients with stable extrahepatic disease.


Assuntos
Neoplasias Hepáticas , Sarcoma , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Hepáticas/secundário , Hepatectomia/métodos , Sarcoma/cirurgia
19.
Biota Neotrop. (Online, Ed. ingl.) ; 23(3): e20231488, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1520276

RESUMO

Abstract The first list of Aetalionidae and Membracidae species for western Acre is presented, including the Alto do Juruá regions of Serra do Divisor National Park and the Campus Floresta of the Federal University of Acre. In total, 94 species of treehoppers were collected, of which Centrotinae (Membracidae) is recorded for the first time for Brazil (Abelus maculatus Schimidt), another 16 species are new Brazilian records, and 69 species (Aetalionidae and Membracidae) are new records for Acre. Data on type locality, geographic distribution and images of all species are presented. The males of Lophyraspis fenestrata Sakakibara & Creão-Duarte and Erechtia sanguinolenta (Fairmaire) are known for the first time. The species diversity was compared to four other treehopper surveys in the Amazon region, with similarity indices of about 43.6% for Colombian Amazon (at least 650 km away), 27.6% for Panguana Biological Research Station, Peru (250 km), 20.2% for Adolpho Ducke Forest Reserve, Brazil (1,600 km) and 8.5% for Villa Carmen Biological Station/Los Amigos Biological Station, Peru (600/700 km). The estimated richness of Serra do Divisor National Park was just over 70%, suggesting that local diversity could be significantly higher than that presented in this study.


Resumo A primeira lista de espécies de Aetalionidae e Membracidae para o extremo oeste do Acre é apresentada, incluindo as regiões do Alto do Juruá do Parque Nacional da Serra do Divisor e o Campus Floresta da Universidade Federal do Acre. No total, foram coletadas 94 espécies de soldadinhos, das quais Centrotinae (Membracidae) é registrada pela primeira vez para o Brasil (Abelus maculatus Schimidt), 16 outras espécies de membracídeos são novos registros para o Brasil e 69 espécies (Aetalionidae e Membracidae) são novos registros para o Acre. Dados sobre localidade-tipo, distribuição geográfica e imagens de todas as espécies são apresentados. Os machos de Lophyraspis fenestrata Sakakibara & Creão-Duarte e Erechtia sanguinolenta (Fairmaire) são conhecidos pela primeira vez. A diversidade de espécies foi comparada a outros quatro levantamentos de soldadinhos na região amazônica, com índices de similaridade de cerca de 43,6% para a Amazônia colombiana (pelo menos 650 km de distância), 27,6% para a Estação de Pesquisa Biológica de Panguana, Peru (250 km), 20,2% para Adolpho Reserva Florestal Ducke, Brasil (1.600 km) e 8,5% para Estação Biológica Villa Carmen/Estação Biológica Los Amigos, Peru (600/700 km). A riqueza estimada do Parque Nacional da Serra do Divisor foi de pouco mais de 70%, sugerindo que a diversidade local pode ser significativamente maior do que a apresentada neste estudo.

20.
Animals (Basel) ; 12(24)2022 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-36552451

RESUMO

An 8-year-old female neutered Labrador retriever was presented for a second opinion consultation due to vomiting and lethargy, having failed to respond to symptomatic therapy. Blood analysis revealed hyperbilirubinemia and hypoalbuminemia, associated with hypocobalaminemia. An abdominal ultrasound identified diffused bowel thickening and hypoechoic hepatomegaly. An ultrasound-guided liver fine-needle aspiration was performed for cytology and also for cell block immunocytochemistry. Gastric and duodenal biopsies were collected by gastroduodenoscopy. Liver cytology showed numerous lymphocytes, suggesting lymphoma at the hepatic infiltration stage, and immunocytochemistry in the cell block of the hepatic aspirate indicated co-expression of CD3 and CD20 in the lymphoid cells present. The histopathology of gastric and duodenal biopsies supported the hypothesis of gastrointestinal lymphoma due to heavy lymphoid infiltration of the gastric epithelium and intestinal mucosa, including the villi. Concurrent immunohistochemistry was performed using CD3, CD20, PAX5, and CD79αcy antibodies. Immunomarking was positive for CD3 and CD20, which overlapped populations of lymphoid cells, and was negative for all other antibodies. In the clonality test, lymphocyte co-expression of CD3 and CD20 was confirmed by monoclonal rearrangement of T-cell gamma receptors. The final diagnosis was type 2 enteropathy-associated T-cell lymphoma with hepatic infiltration. Co-expression was examined in conjunction with the PARR result in the presence of T-cell monoclonal rearrangement.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...