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1.
Gac Med Mex ; 160(1): 76-85, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38753554

RESUMO

BACKGROUND: Chromosomal abnormalities are present in 50 to 60% of miscarriages and in 6 to 19% of stillbirths. Although microarrays are preferred for studying chromosomal abnormalities, many hospitals cannot offer this methodology. OBJECTIVE: To present the results of the cytogenetic analysis of 303 products of conception (POC), which included 184 miscarriages, 49 stillbirths and 17 cases of undefined age. MATERIAL AND METHODS: Karyotyping, fluorescence in situ hybridization, short tandem repeats and microarrays were used, depending on the type of loss and available sample. RESULTS: In 29 POCs we found maternal tissue and were eliminated from the analyses. Informative results were obtained in 250 (91.2 %)/274 cases; the karyotyping success rate was 80.7%; that of single nucleotide polymorphism microarrays, 94.5%; and that of fluorescence in situ hybridization and short tandem repeat, 100%. Cytogenetic abnormalities were observed in 57.6% of miscarriages and in 24.5% of stillbirths; 94% of total anomalies were numerical and 6% were submicroscopic. CONCLUSIONS: Karyotyping with simultaneous short tandem repeat study to rule out contamination of maternal cells is effective for studying miscarriages; in stillbirths, microarrays are recommended.


ANTECEDENTES: Las alteraciones cromosómicas están presentes en 50 a 60 % de los abortos espontáneos y en 6 a 19 % de los mortinatos. Aunque se prefieren los microarreglos para estudiarlos, numerosos hospitales no pueden ofrecerlos. OBJETIVO: Presentar los resultados del estudio citogenético de 303 productos de la concepción (POC), 184 se obtuvieron de abortos espontáneos, 49 fueron mortinatos y en 17 no se identificó la de edad gestacional. MATERIAL Y MÉTODOS: Se empleó cariotipo, hibridación in situ con fluorescencia, secuencias cortas repetidas en tándem y microarreglos, según el tipo de pérdida y la muestra disponible. RESULTADOS: En 29 POC se encontró tejido materno, por lo que fueron eliminados de los análisis. En 250 (91.2 %)/274 casos se obtuvieron resultados informativos; la tasa de éxito del cariotipo fue de 80.7 %; la de los microarreglos de SNP, de 94.5 %; y la de la hibridación fluorescente in situ y la repetición corta en tándem, de 100 %. Se observaron anomalías citogenéticas en 57.6 % de los abortos espontáneos y en 24.5 % de los mortinatos; 94 % de las anomalías fueron numéricas y 6 %, submicroscópicas. CONCLUSIONES: El cariotipo en conjunto con el estudio de secuencias cortas repetidas en tándem para descartar contaminación de células maternas es efectivo para estudiar abortos espontáneos; los microarreglos se recomiendan en los mortinatos.


Assuntos
Aborto Espontâneo , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Cariotipagem , Humanos , Feminino , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/genética , México/epidemiologia , Gravidez , Cariotipagem/métodos , Natimorto/genética , Natimorto/epidemiologia , Adulto , Análise Citogenética/métodos , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Adulto Jovem
3.
Theor Biol Med Model ; 12: 19, 2015 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-26385365

RESUMO

BACKGROUND: The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition. Upon DNA damage, normal and FA cells inhibit the cell cycle progression, until the G2/M checkpoint is turned off by the checkpoint recovery, which becomes activated when the DNA damage has been repaired. Interestingly, highly damaged FA cells seem to override the G2/M checkpoint. In this study we explored with a Boolean network model and key experiments whether checkpoint recovery activation occurs in FA cells with extensive unrepaired DNA damage. METHODS: We performed synchronous/asynchronous simulations of the FA/BRCA pathway Boolean network model. FA-A and normal lymphoblastoid cell lines were used to study checkpoint and checkpoint recovery activation after DNA damage induction. The experimental approach included flow cytometry cell cycle analysis, cell division tracking, chromosome aberration analysis and gene expression analysis through qRT-PCR and western blot. RESULTS: Computational simulations suggested that in FA mutants checkpoint recovery activity inhibits the checkpoint components despite unrepaired DNA damage, a behavior that we did not observed in wild-type simulations. This result implies that FA cells would eventually reenter the cell cycle after a DNA damage induced G2/M checkpoint arrest, but before the damage has been fixed. We observed that FA-A cells activate the G2/M checkpoint and arrest in G2 phase, but eventually reach mitosis and divide with unrepaired DNA damage, thus resolving the initial checkpoint arrest. Based on our model result we look for ectopic activity of checkpoint recovery components. We found that checkpoint recovery components, such as PLK1, are expressed to a similar extent as normal undamaged cells do, even though FA-A cells harbor highly damaged DNA. CONCLUSIONS: Our results show that FA cells, despite extensive DNA damage, do not loss the capacity to express the transcriptional and protein components of checkpoint recovery that might eventually allow their division with unrepaired DNA damage. This might allow cell survival but increases the genomic instability inherent to FA individuals and promotes cancer.


Assuntos
Ciclo Celular , Dano ao DNA , Reparo do DNA , Anemia de Fanconi/patologia , Western Blotting , Neoplasias da Mama/patologia , Ciclo Celular/efeitos dos fármacos , Pontos de Checagem do Ciclo Celular/efeitos dos fármacos , Divisão Celular/efeitos dos fármacos , Linhagem Celular , Reparo do DNA/efeitos dos fármacos , Densitometria , Feminino , Regulação da Expressão Gênica/efeitos dos fármacos , Redes Reguladoras de Genes/efeitos dos fármacos , Humanos , Mitomicina/farmacologia , Mutação/genética
4.
Bioinformatics ; 28(6): 858-66, 2012 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-22267503

RESUMO

MOTIVATION: Fanconi anemia (FA) is a chromosomal instability syndrome originated by inherited mutations that impair the Fanconi Anemia/Breast Cancer (FA/BRCA) pathway, which is committed to the repair of DNA interstrand cross-links (ICLs). The disease displays increased spontaneous chromosomal aberrations and hypersensitivity to agents that create DNA interstrand cross-links. In spite of DNA damage, FA/BRCA-deficient cells are able to progress throughout the cell cycle, probably due to the activity of alternative DNA repair pathways, or due to defects in the checkpoints that monitor DNA integrity. RESULTS: We propose a Boolean network model of the FA/BRCA pathway, Checkpoint proteins and some alternative DNA repair pathways. To our knowledge, this is the largest network model incorporating a DNA repair pathway. Our model is able to simulate the ICL repair process mediated by the FA/BRCA pathway, the activation of Checkpoint proteins observed by recurrent DNA damage, as well as the repair of DNA double-strand breaks and DNA adducts. We generated a series of simulations for mutants, some of which have never been reported and thus constitute predictions about the function of the FA/BRCA pathway. Finally, our model suggests alternative DNA repair pathways that become active whenever the FA/BRCA pathway is defective.


Assuntos
Reparo do DNA , Anemia de Fanconi/metabolismo , Modelos Biológicos , Proteína BRCA1/metabolismo , Neoplasias da Mama/genética , Neoplasias da Mama/metabolismo , Ciclo Celular , Células Cultivadas , Dano ao DNA , Anemia de Fanconi/genética , Proteínas de Grupos de Complementação da Anemia de Fanconi/metabolismo , Instabilidade Genômica , Humanos
5.
Front Genet ; 14: 1293929, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38327701

RESUMO

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a major medical institution in Mexico, where patients with BMF receive a complete approach that includes paraclinical tests. Readily recognizable features, such as the hematological and distinctive physical phenotypes, identified by clinical dysmorphologists, remain crucial for the diagnosis and management of these patients, particularly in circumstances where next-generation sequencing (NGS) is not easily available. Here, we describe a group of Mexican patients with a high clinical suspicion of an IBMFS. Methods: We performed a systematic retrospective analysis of the medical records of patients who had a high IBMFS suspicion at our institution from January 2018 to July 2021. An initial assessment included first ruling out acquired causes of BMF by the Hematology Department and referral of the patient to the Department of Human Genetics for physical examination to search for specific phenotypes suggesting an IBMFS. Patients with high suspicion of having an IBMFS were classified into two main groups: 1) specific IBMFS, including dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), Shwachman-Diamond syndrome (SDS), thrombocytopenia with absent radii (TAR), and severe congenital neutropenia (SCN); 2) undefined IBMFS (UI). Results: We established a high suspicion of having an IBMFS in 48 patients. At initial evaluation, the most common hematologic features were bicytopenia (20%) and aplastic anemia (16%); three patients received hematopoietic stem cell transplantation. Among patients with a suspicion of an IBMFS, the most common physical abnormality was minor craniofacial features in 83% of patients and neurodevelopmental disorders in 52%. The specific suspicions that we built were DBA (31%), SDS (18%), DC (14%), TAR (4%), and SCN (4%), whereas 27% of cases remained as undefined IBMFS. SDS, TAR, and SCN were more commonly suspected at an earlier age (<1 year), followed by DBA (2 years) and DC (5 years). Conclusions: Thorough examination of reported clinical data allowed us to highly suspect a specific IBMFS in approximately 70% of patients; however, an important number of patients remained with suspicion of an undefined IBMFS. Implementation of NGS and telomere length measurement are forthcoming measures to improve IBMFS diagnosis in Mexico.

6.
Front Immunol ; 13: 946350, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35860267

RESUMO

Background: Chagas disease is a lifelong infection caused by the protozoa Trypanosoma cruzi endemic in Latin-America and emergent worldwide. Decades after primary infection, 20-30% of infected people develop chronic Chagas cardiomyopathy (CCC) while the others remain asymptomatic. CCC pathogenesis is complex but associated with sustained pro-inflammatory response leading to tissue damage. Hence, levels of IL-10 could have a determinant role in CCC etiology. Studies with Latin-American populations have addressed the association of genetic variants of IL-10 and the risk of developing CCC with inconsistent results. We carried out a case control study to explore the association between IL-10-1082G>A (rs18008969), -819C>T (rs1800871), -592A>C (rs1800872) polymorphisms and CCC in a population attending a hospital in Buenos Aires Argentina. Next, a systematic review of the literature and a meta-analysis were conducted combining present and previous studies to further study this association. Methods: Our case control study included 122 individuals with chronic T. cruzi infection including 64 patients with any degree of CCC and 58 asymptomatic individuals. Genotyping of IL-10 -1082G>A, -819C>T, -592A>C polymorphisms was performed by capillary sequencing of the region spanning the three polymorphic sites and univariate and multivariate statistical analysis was undertaken. Databases in English, Spanish and Portuguese language were searched for papers related to these polymorphisms and Chagas disease up to December 2021. A metanalysis of the selected literature and our study was performed based on the random effect model. Results: In our cohort, we found a significant association between TT genotype of -819 rs1800871 and AA genotype of -592 rs1800872 with CCC under the codominant (OR=5.00; 95%CI=1.12-23.87 P=0,04) and the recessive models (OR=5.37; 95%CI=1.12-25.68; P=0,03). Of the genotypes conformed by the three polymorphic positions, the homozygous genotype ATA was significantly associated with increased risk of CCC. The results of the meta-analysis of 754 cases and 385 controls showed that the TT genotype of -819C>T was associated with increased CCC risk according to the dominant model (OR=1.13; 95% CI=1.02-1.25; P=0,03). Conclusion: The genotype TT at -819 rs1800871 contributes to the genetic susceptibility to CCC making this polymorphism a suitable candidate to be included in a panel of predictive biomarkers of disease progression.


Assuntos
Cardiomiopatia Chagásica , Doença de Chagas , Estudos de Casos e Controles , Cardiomiopatia Chagásica/genética , Doença de Chagas/genética , Humanos , Interleucina-10/genética , Fatores de Risco
7.
Medwave ; 20(3): e7873, 2020 Apr 09.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-32469849

RESUMO

INTRODUCTION: By definition, hypertensive cardiopathy is a series of complex and variable effects responsible for the chronic elevation of blood pressure in the heart. It stands out within a broad spectrum of cardiovascular diseases associated with hypertension. OBJECTIVE: To evaluate the capacity to predict the development of adaptive changes to hypertensive cardiopathy within ten years following diagnosis of the condition, using a model based on prognostic factors. METHODS: A prospective cohort study was conducted in hypertensive patients. The patients were followed at the specialized hypertension physicians office of the specialty policlinic attached to Carlos Manuel de Céspedes University Hospital, in the Bayamo Municipality, Granma Province, Cuba, from 1 January 2008 to 31 December 2018. RESULTS: Coxs proportional regression model showed a significant statistical relationship between most of the factors and the development of the adaptive changes in hypertensive cardiopathy within ten years of follow-up after the diagnosis of this condition. The lack of blood pressure control (Hazard ratio: 2.090; confidence interval 95%: 1.688 to 2.588; p: 0.000) followed by stage 2 of hypertension (hazard ratio: 1.987; confidence interval 95%: 1.584 to 2.491; p: 0.000) were the main factors. Internal validation of the model, discriminant capacity (C- statistic: 0.897) and calibration Hosmer-Lemeshow (χ2: 5.384; p: 0.716), was acceptable. CONCLUSIONS: We develop a model to predict the progression of hypertensive cardiopathy from grade I to grade IV with adequate discriminatory capacity. The model is based on prognostic factors, among which characteristic effects of arterial hypertension, diabetes mellitus, and chronic kidney disease stood out.


INTRODUCCIÓN: La cardiopatía hipertensiva sobresale dentro del amplio espectro de las enfermedades cardiovasculares asociadas con la hipertensión. Esta es definida como un complejo y variable conjunto de efectos que provoca en el corazón la elevación crónica de la presión arterial. OBJETIVO: Evaluar la capacidad de vaticinar el desarrollo de los cambios evolutivos de la cardiopatía hipertensiva en los diez años siguientes al diagnóstico, mediante un modelo basado en factores pronósticos. MÉTODOS: Realizamos un estudio de cohortes, prospectivo en pacientes hipertensos atendidos en la consulta especializada de hipertensión arterial de la policlínica de especialidades del Hospital General Universitario Carlos Manuel de Céspedes del municipio de Bayamo, Cuba, desde el uno de enero de 2008 hasta el 31 de diciembre de 2018. RESULTADOS: El modelo de riesgos proporcionales de Cox mostró una relación estadística significativa entre la mayoría de los factores y el desarrollo de los cambios evolutivos de la cardiopatía hipertensiva en los diez años siguientes al diagnóstico. El lugar más relevante lo ocupó la falta de control de la presión arterial (Hazard ratio: 2,090; intervalo de confianza 95%: 1,688 a 2,588; p = 0,000) seguido al de clasificar en el estadio dos de la hipertensión arterial (Hazard ratio: 1,987; intervalo de confianza 95%: 1,584 a 2,491; p = 0,000). La validez interna del modelo fue adecuada: la capacidad discriminativa (estadístico C = 0,897) y la calibración (χ2: 5,384; p = 0,716). CONCLUSIONES: Se obtiene un modelo para pronosticar la progresión de la cardiopatía hipertensiva de grado I a grado IV, con capacidad discriminativa y calibración adecuadas a partir de factores pronósticos. Entre estos últimos sobresalen los efectos propios de la hipertensión arterial, la diabetes mellitus y enfermedad renal crónica.


Assuntos
Cardiopatias/fisiopatologia , Hipertensão/fisiopatologia , Pressão Sanguínea , Estudos de Coortes , Cuba , Diástole/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Análise de Regressão , Índice de Gravidade de Doença , Sístole/fisiologia
8.
Gac. méd. Méx ; 160(1): 81-91, ene.-feb. 2024. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1557807

RESUMO

Resumen Antecedentes: Las alteraciones cromosómicas están presentes en 50 a 60 % de los abortos espontáneos y en 6 a 19 % de los mortinatos. Aunque se prefieren los microarreglos para estudiarlos, numerosos hospitales no pueden ofrecerlos. Objetivo: Presentar los resultados del estudio citogenético de 303 productos de la concepción (POC), 184 se obtuvieron de abortos espontáneos, 49 fueron mortinatos y en 17 no se identificó la de edad gestacional. Material y métodos: Se empleó cariotipo, hibridación in situ con fluorescencia, secuencias cortas repetidas en tándem y microarreglos, según el tipo de pérdida y la muestra disponible. Resultados: En 29 POC se encontró tejido materno, por lo que fueron eliminados de los análisis. En 250 (91.2 %)/274 casos se obtuvieron resultados informativos; la tasa de éxito del cariotipo fue de 80.7 %; la de los microarreglos de SNP, de 94.5 %; y la de la hibridación fluorescente in situ y la repetición corta en tándem, de 100 %. Se observaron anomalías citogenéticas en 57.6 % de los abortos espontáneos y en 24.5 % de los mortinatos; 94 % de las anomalías fueron numéricas y 6 %, submicroscópicas. Conclusiones: El cariotipo en conjunto con el estudio de secuencias cortas repetidas en tándem para descartar contaminación de células maternas es efectivo para estudiar abortos espontáneos; los microarreglos se recomiendan en los mortinatos.


Abstract Background: Chromosomal abnormalities are present in 50 to 60 % of miscarriages and in 6 to 19 % of stillbirths. Although microarrays are preferred for studying chromosomal abnormalities, many hospitals cannot offer this methodology. Objective: To present the results of the cytogenetic analysis of 303 products of conception (POC), which included 184 miscarriages, 49 stillbirths and 17 cases of undefined age. Material and methods: Karyotyping, fluorescence in situ hybridization, short tandem repeats and microarrays were used, depending on the type of loss and available sample. Results: In 29 POCs we found maternal tissue and were eliminated from the analyses. Informative results were obtained in 250 (91.2 %)/274 cases; the karyotyping success rate was 80.7 %; that of single nucleotide polymorphism microarrays, 94.5 %; and that of fluorescence in situ hybridization and short tandem repeat, 100 %. Cytogenetic abnormalities were observed in 57.6 % of miscarriages and in 24.5 % of stillbirths; 94 % of total anomalies were numerical and 6 % were submicroscopic. Conclusions: Karyotyping with simultaneous short tandem repeat study to rule out contamination of maternal cells is effective for studying miscarriages; in stillbirths, microarrays are recommended.

9.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1509112

RESUMO

Entre el 15 y el 17 del pasado mes de mayo de 2021 se llevó a cabo un nuevo congreso virtual del American College of Cardiology, uno de los eventos científicos más esperados de la cardiología mundial. Se contó con expositores de excelente nivel y la presentación de trabajos destacados que han realizado un aporte significativo a nuestra práctica clínica referidos a un gran abanico de situaciones frecuentes: cirugía cardíaca, cardiología intervencionista, manejo de arritmias. A continuación, seleccionamos y resumimos algunos de los trabajos más significativos: Aspirin versus clopidogrel for chronic maintenance monotherapy after percutaneous coronary intervention (HOST-EXAM). TicAgrelor versus CLOpidogrel in Stabilized Patients with Acute Myocardial Infarction (TALOS-AMI). Left Atrial Appendage Occlusion during Cardiac Surgery to Prevent Stroke III (LAAOS III). Sotagliflozin in Patients with Diabetes and Recent Worsening Heart Failure (SOLOIST-WHF). A Randomized Ablation-based atrial Fibrillation rhythm control versus rate control Trial in patients with heart failure and high burden Atrial Fibrillation (RAFT-AF). Aspirin Dosing: A Patient-Centric Trial Assessing Benefits and Long-Term Effectiveness (ADAPTABLE).


Summary: The Annual meeting of the American Cardiology College Congress was held virtually between 15th and 17th of May in present 2021. This is indeed one of the most expected and relevant scientific events in the world of Cardiology. We had excellent speakers and outstanding presentations updating central themes in our clinical practice referring to a wide range of frequent situations such us: cardiac surgery, interventional cardiology, management of arrhythmias. Bellow, we select and summarize some of the most significant works: Aspirin versus clopidogrel for chronic maintenance monotherapy after percutaneous coronary intervention (HOST-EXAM). TicAgrelor versus CLOpidogrel in Stabilized Patients with Acute Myocardial Infarction (TALOS-AMI). Left Atrial Appendage Occlusion during Cardiac Surgery to Prevent Stroke III (LAAOS III). Sotagliflozin in Patients with Diabetes and Recent Worsening Heart Failure (SOLOIST-WHF). A Randomized Ablation-based atrial Fibrillation rhythm control versus rate control Trial in patients with heart failure and high burden Atrial Fibrillation (RAFT-AF). Aspirin Dosing: A Patient-Centric Trial Assessing Benefits and Long-Term Effectiveness (ADAPTABLE).


De 15 a 17 de maio de 2021, foi realizada uma nova reunião virtual do congresso anual do American College of Cardiology, um dos eventos científicos mais relevantes do mundo da cardiologia. Houve excelentes palestrantes e a apresentação de estudos notáveis ​​que atualizaram temas centrais em nossa prática clínica referentes a uma ampla gama de situações comuns: cirurgia cardíaca, cardiologia intervencionista, manejo de arritmias. A seguir, selecionamos e resumimos algumas das obras mais significativas: Aspirina versus clopidogrel para monoterapia de manutenção crônica após intervenção coronária percutânea (EXAME-HOST). TicAgrelor versus CLOpidogrel em pacientes estabilizados com infarto agudo do miocárdio (TALOS-AMI). Oclusão do apêndice atrial esquerdo durante a cirurgia cardíaca para prevenir acidente vascular cerebral III (LAAOS III). Sotagliflozina em pacientes com diabetes e insuficiência cardíaca recente (SOLOIST-WHF). Um ensaio randomizado de controle de ritmo de fibrilação atrial baseado em ablação versus controle de frequência em pacientes com insuficiência cardíaca e fibrilação atrial de alta carga (RAFT-AF). Dosagem de aspirina: um estudo centrado no paciente que avalia os benefícios e eficácia a longo prazo (ADAPTÁVEL).

10.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1509114

RESUMO

El 37.o Congreso Uruguayo de Cardiología se llevó a cabo exclusivamente en modalidad virtual, del 26 al 28 de mayo. Contó con invitados nacionales e internacionales, permitiendo el desarrollo de un espacio de actualización en distintas áreas de la cardiología. Al igual que en años anteriores, se destinó un espacio a la actividad científica efectuada por investigadores nacionales mediante la presentación de temas libres. Durante 2020 se presentaron diversos trabajos en este formato que fueron sometidos a un proceso de revisión y aprobación por el comité científico, cuya presentación fue diferida por la pandemia por COVID-19. A continuación, comentamos algunos de los trabajos presentados en el congreso, a saber: Implante primario de marcapaso definitivo cardíaco en población pediátrica y evolución: experiencia de 15 años en centro de referencia cardiológico pediátrico en Uruguay. Calidad de la anticoagulación oral con warfarina en una policlínica de cardiología, seguimiento de un año. Valor pronóstico de la anemia leve/moderada y/o la ferropenia preoperatoria en el posoperatorio de cirugía cardíaca. Impacto pronóstico del ecocardiograma de estrés con ejercicio físico negativo en una unidad de dolor torácico. Período 2019-2020 con seguimiento a un año. Estrategia invasivoconservadora en el infarto con elevación del ST. Prueba de concepto. Impacto cardiovascular de la pandemia por COVID-19 durante el primer semestre de 2020 en Uruguay. Estudio ecológico. Correlación entre parámetros hemodinámicos y captación de 18F-fluoruro mediante PET a corto plazo luego de sustitución valvular aórtica. Indicación, resultados y mortalidad de la angioplastia coronaria con implante de stent en tronco de arteria coronaria izquierda no protegido.


Summary: The 37th Uruguayan Congress of Cardiology was held in virtual mode, from May 26 to 28. It had national and international guests, allowing the development of an update space in different areas of cardiology. As in previous years, a space was set aside to present the scientific activity carried out by national researchers through the presentation of free topics. Various free topics of 2020 were reviewed and approved by the scientific committee, whose presentation was deferred due to the COVID-19 pandemic. Below we comment on some of the papers presented at the congress, as follows: Primary implantation of a definitive cardiac pacemaker in the pediatric population and evolution: 15 years of experience in a pediatric cardiology referral center in Uruguay. Quality of oral anticoagulation with warfarin in a cardiology polyclinic, one-year follow-up. Prognostic value of mild/moderate anemia and/or preoperative iron deficiency in the postoperative period of cardiac surgery. Prognostic impact of stress echocardiography with negative physical exercise in a chest pain unit. 2019-2020 period with one-year follow-up. Invasiveconservative strategy in ST elevation infarction. Proof of concept. Cardiovascular impact of the COVID-19 pandemic during the first half of 2020 in Uruguay. Ecological study. Correlation between hemodynamic parameters and 18 F-fluoride uptakes by PET in the short term after aortic valve replacement. Indication, results and mortality of coronary angioplasty with unprotected left main coronary artery stent implantation.


O 37.o Congresso Uruguaio de Cardiologia foi realizado de forma virtual, de 26 a 28 de maio. Contou com convidados nacionais e internacionais, permitindo o desenvolvimento de um espaço de atualização nas diferentes áreas da cardiologia. À semelhança dos anos anteriores, foi reservado um espaço para a apresentação da atividade científica desenvolvida por investigadores nacionais através da apresentação de temas livres. Foram apresentados diversos temas livres revisados e selecionados pela comissão científica correspondente ao ano de 2020, cuja apresentação foi adiada devido à pandemia do COVID-19. A seguir comentamos alguns dos trabalhos apresentados no congresso. Implante primário de marcapasso cardíaco definitivo na população pediátrica e evolução: 15 anos de experiência em centro de referência em cardiologia pediátrica no Uruguai. Qualidade da anticoagulação oral com varfarina em policlínica de cardiologia, seguimento de um ano. Valor prognóstico de anemia leve/moderada e/ou deficiência de ferro pré-operatória no pós-operatório de cirurgia cardíaca. Impacto prognóstico da ecocardiografia sob estresse com exercício físico negativo em uma unidade de dor torácica. Período 2019-2020 com acompanhamento de um ano. Estratégia invasivoconservadora no infarto com supra desnivelamento de ST. Prova de conceito. Impacto cardiovascular da pandemia COVID-19 durante o primeiro semestre de 2020 no Uruguai. Estudo ecológico. Correlação entre parâmetros hemodinâmicos e captação de fluoreto de 18F por PET em curto prazo após a troca da válvula aórtica. Indicação, resultados e mortalidade de angioplastia coronária com implante de stent de tronco de coronária esquerda desprotegido.

11.
BMJ Case Rep ; 20142014 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-25315805

RESUMO

Squamous cell carcinoma of the palm is a very infrequent malignancy. Its unusual presentation can produce a delay in the final diagnosis with serious consequences as far as morbidity and mortality are concerned. This article summarises the case of a patient who was referred to our department presenting a squamous cell carcinoma on his left palm and a clinically positive axillar lymphadenopathy. He had previously been wrongly diagnosed on several occasions.


Assuntos
Carcinoma de Células Escamosas/patologia , Mãos/patologia , Neoplasias Cutâneas/patologia , Amputação Cirúrgica , Carcinoma de Células Escamosas/cirurgia , Diagnóstico Diferencial , Granuloma Piogênico/diagnóstico , Mãos/cirurgia , Humanos , Pessoa de Meia-Idade , Neoplasias Cutâneas/cirurgia
12.
Med. interna Méx ; 35(5): 659-668, sep.-oct. 2019. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1250259

RESUMO

Resumen: ANTECEDENTES: La insuficiencia cardiaca afecta a 26 millones de personas en todo el mundo. Al evaluar la variación de las cifras de presión arterial y frecuencia cardiaca tras la realización de la maniobra de Valsalva se ha encontrado correlación entre la función ventricular izquierda y el péptido auricular natriurético. OBJETIVO: Determinar si el gradiente de presión de pulso posterior y previo a la maniobra de Valsalva es útil como marcador de disfunción sistólica del ventrículo izquierdo. MATERIAL Y MÉTODO: Estudio de cohorte realizado del 1 de enero al 30 de junio de 2017, en el que se determinó la fracción de eyección del ventrículo izquierdo, propéptido natriurético cerebral, así como la sustracción de presión de pulso posterior y previo a la maniobra de Valsalva, esta variable se determinó como gradiente de presión de pulso pos y pre-Valsalva. RESULTADOS: Se incluyeron 32 pacientes. Una cifra de gradiente menor de 4.22 tuvo correlación negativa con la fracción de eyección del ventrículo izquierdo menor de 50%, con coeficiente de correlación de -0.562 y valor p de 0.001, además de tener un área bajo la curva de 0.71. CONCLUSIONES: El gradiente y la fracción de eyección tuvieron correlación negativa, ésta en el área indeterminada de la función sistólica. Una FEVI menor de 50% implica riesgo de descompensación y de FEVI deprimida.


Abstract: BACKGROUND: Heart failure affects to 26 million people worldwide. The variation of the blood pressure and heart rate values after performing the Valsalva maneuver has been evaluated, finding a correlation between left ventricular function and natriuretic atrial peptide. OBJECTIVE: To determine if post- and pre-Valsalva pulse pressure gradient is useful as marker of left ventricle systolic dysfunction. MATERIAL AND METHOD: A cohort study was done from January 1st to June 30, 2017, determining left ventricular ejection fraction, cerebral natriuretic peptide, as well as the subtraction of post-Valsalva and pre-Valsalva pulse pressure, this variable was determined as pulse pressure gradient. RESULTS: There were included 32 patients. A gradient figure of less than 4.22 had a negative correlation with a left ventricular ejection fraction lesser than 50%, with a correlation coefficient of -0.562 and a p value of 0.001, in addition to having an area under the curve of 0.71. CONCLUSIONS: The gradient and the ejection fraction had a negative correlation, this in the indeterminate area of the systolic function. An LVEF lesser than 50% implies risk of decompensation and a depressed LVEF.

13.
Bioresour Technol ; 102(22): 10377-85, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21962536

RESUMO

A pilot scale anaerobic submerged membrane bioreactor (AnSMBR) with an external filtration unit for municipal wastewater treatment was operated for 100 days. Besides gas sparging, additional shear was created by circulating sludge to control membrane fouling. During the first 69 days, the reactor was operated under mesophilic temperature conditions. Afterwards, the temperature was gradually reduced to 20 °C. A slow and linear increase in the filtration resistance was observed under critical flux conditions (7 L/(m2 h)) at 35 °C. However, an increase in the fouling rate probably linked to an accumulation of solids, a higher viscosity and soluble COD concentrations in the reactor was observed at 20 °C. The COD removal efficiency was close to 90% under both temperature ranges. Effluent COD and BOD5 concentrations were lower than 80 and 25 mg/L, respectively. Pathogen indicator microorganisms (fecal coliforms bacteria) were reduced by log(10)5. Hence, the effluent could be used for irrigation purposes in agriculture.


Assuntos
Reatores Biológicos/microbiologia , Cidades , Membranas Artificiais , Temperatura , Eliminação de Resíduos Líquidos , Purificação da Água/instrumentação , Purificação da Água/métodos , Anaerobiose , Incrustação Biológica , Biocombustíveis/análise , Análise da Demanda Biológica de Oxigênio , Ácidos Graxos Voláteis/análise , Metano/análise , Tamanho da Partícula , Projetos Piloto , Solubilidade , Fatores de Tempo , Volatilização
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