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1.
Nucleic Acids Res ; 52(11): 6376-6391, 2024 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-38721777

RESUMO

DNA replication faces challenges from DNA lesions originated from endogenous or exogenous sources of stress, leading to the accumulation of single-stranded DNA (ssDNA) that triggers the activation of the ATR checkpoint response. To complete genome replication in the presence of damaged DNA, cells employ DNA damage tolerance mechanisms that operate not only at stalled replication forks but also at ssDNA gaps originated by repriming of DNA synthesis downstream of lesions. Here, we demonstrate that human cells accumulate post-replicative ssDNA gaps following replicative stress induction. These gaps, initiated by PrimPol repriming and expanded by the long-range resection factors EXO1 and DNA2, constitute the principal origin of the ssDNA signal responsible for ATR activation upon replication stress, in contrast to stalled forks. Strikingly, the loss of EXO1 or DNA2 results in synthetic lethality when combined with BRCA1 deficiency, but not BRCA2. This phenomenon aligns with the observation that BRCA1 alone contributes to the expansion of ssDNA gaps. Remarkably, BRCA1-deficient cells become addicted to the overexpression of EXO1, DNA2 or BLM. This dependence on long-range resection unveils a new vulnerability of BRCA1-mutant tumors, shedding light on potential therapeutic targets for these cancers.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia , Proteína BRCA1 , DNA Helicases , Replicação do DNA , DNA de Cadeia Simples , Exodesoxirribonucleases , Humanos , Proteínas Mutadas de Ataxia Telangiectasia/metabolismo , Proteínas Mutadas de Ataxia Telangiectasia/genética , DNA de Cadeia Simples/metabolismo , DNA de Cadeia Simples/genética , Exodesoxirribonucleases/metabolismo , Exodesoxirribonucleases/genética , Replicação do DNA/genética , Proteína BRCA1/metabolismo , Proteína BRCA1/genética , DNA Helicases/metabolismo , DNA Helicases/genética , Sobrevivência Celular/genética , Enzimas Reparadoras do DNA/metabolismo , Enzimas Reparadoras do DNA/genética , Dano ao DNA
2.
Eur J Pediatr ; 183(5): 2411-2420, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38459131

RESUMO

Sudden cardiac death in children is a rare event, but of great social significance. Generally, it is related to heart disease with a risk of sudden cardiac death (SCD), which may occur with cardiovascular symptoms and/or electrocardiographic markers; thus, a primary care paediatrician (PCP) could detect them. Therefore, we proposed a study that assesses how to put into practice and conduct a cardiovascular assessment within the routine healthy-child check-ups at six and twelve years of age; that reflects cardiovascular signs and symptoms, as well as the electrocardiographic alterations that children with a risk of SCD in the selected population present; and that assesses the PCP's skill at electrocardiogram (ECG) interpretation. In collaboration with PCPs, primary care nurses, and paediatric cardiologists, an observational, descriptive, multicentre, cross-sectional study was carried out in the Balearic Islands (Spain), from April 2021 to January 2022, inclusive. The PCPs gathered patient data through forms (medical record, electrocardiogram, and physical examination) and sent them to the investigator, together with the informed consent document and electrocardiogram. The investigator passed the electrocardiogram on to the paediatric cardiologists for reading, in an identical form to those the paediatricians had filled in. The variables were collected, and a descriptive analysis performed. Three paediatric cardiologists, twelve PCPs, and nine nurses from seven public health centres took part. They collected the data from 641 patients, but 233 patients did not participate (in 81.11% due to the PCP's workload). Therefore, the study coverage was around 64%, representing the quotient of the total number of patients who participated, divided by the total number of patients who were eligible for the study. We detected 30 patients with electrocardiographic alterations compatible with SCD risk. Nine of these had been examined by a paediatric cardiologist at some time (functional murmur in 8/9), five had reported shortness of breath with exercise, and four had reported a family history of sudden death. The physical examination of all the patients whose ECG was compatible with a risk of SCD was normal. Upon analysing to what extent the ECG results of the PCP and the paediatric cardiologist agreed, the percentage of agreement in the final interpretation (normal/altered) was 91.9%, while Cohen's kappa coefficient was 31.2% (CI 95%: 13.8-48.6%). The sensitivity of the ECG interpretation by the PCP to detect an ECG compatible with a risk of SCD was 29% and the positive predictive value 45%.     Conclusions: This study lays the foundations for future SCD risk screening in children, performed by PCPs. However, previously, it would be important to optimise their training in reading and interpreting paediatric ECGs. What is Known: • In Spain at present, there is a programme in place to detect heart disease with a risk of sudden death [1], but it targets only children who are starting on or are doing a physical activity as a federated sport. Implementing such screening programmes has proven effective in several countries [2]. However, several studies showed that the incidence of sudden cardiac death is no higher in children competing in sport activities than in those who do not do any sport [3]. This poses an ethical conflict, because at present, children who do not do any federated sport are excluded from screening. According to the revised literature, so far, only in two studies did they screen the child population at schools, and in both, they successfully detected patients with heart disease associated to the risk of sudden death [4, 5]. We have found no studies where the screening of these features was included within the routine healthy-child check-ups by primary care paediatricians. What is New: • We did not know whether-in our setting, at present-the primary care paediatrician could perform a screening method within the routine healthy-child check-ups, in order to detect presumably healthy children at risk of sudden cardiac death, as they present one of the SCD risks. In this regard, we proposed our project: to assess how to put into practice and conduct a cardiovascular assessment via SCD risk screening in the healthy child population by primary care paediatricians and appraise primary care paediatricians' skills in identifying the electrocardiographic alterations associated with SCD risk. The ultimate intention of this pilot study was to make it possible, in the future, to design and justify a study aimed at universalising cardiovascular screening and achieving a long-term decrease in sudden cardiac death events in children.


Assuntos
Morte Súbita Cardíaca , Eletrocardiografia , Cardiopatias , Humanos , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/prevenção & controle , Criança , Masculino , Feminino , Eletrocardiografia/métodos , Estudos Transversais , Cardiopatias/diagnóstico , Cardiopatias/complicações , Espanha/epidemiologia , Programas de Rastreamento/métodos , Medição de Risco/métodos
3.
Behav Sci (Basel) ; 13(3)2023 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-36975257

RESUMO

Stress is a condition that has been related to the development of risk behaviors for health such as sugar-sweetened beverages (SSBs) consumption. The aim of this study was to examine the link between SSBs consumption and perceived stress level in university students. This was an observational, cross-sectional and single-time-point study where the subjects were recruited as a non-probabilistic sample of first-year university students. The students reported their SSBs consumption through a validated questionnaire, as well as their perceived stress level, evaluated through the Cohen scale. Comparisons were made between the means of all variables. Factorial analysis of variance was conducted to explore the effect of the variables' interaction on the stress level. One-way analysis of variance was performed to assess differences between the sexes. Men consumed more SSBs (6101.17 ± 3772.50 mL/week) compared to women (4294.06 ± 3093.8 mL/week). However, women had higher scores of perceived stress and showed a strong association of stress with the SSBs consumption pattern (r and p-value). This study shows for the first time the association that exists between stress and SSBs consumption and indicates that it is related to sex in the young population.

4.
Artigo em Inglês | MEDLINE | ID: mdl-36768112

RESUMO

Among the main preventable causes of death in the area of operations is external exsanguinating hemorrhage in the extremities, hence the importance of the tourniquet as a therapeutic tool in this type of injury and, therefore, of the training of personnel participating in international missions. The main objective of this study is to determine the impact of training in the application of this device. This is a quasi-experimental, prospective, cross-sectional study, carried out with 97 healthy volunteers, military personnel who perform their work in the Royal Guard barracks of El Pardo. The study was conducted between June 2019 and July 2021. The correct determination of the device placement site and the times of correct device placement were evaluated by determining whether there was blood flow using Doppler ultrasound measurements. Statistically significant results were obtained for application time (76.68 s to 58.06 s; p < 0.001), correct device placement (p < 0.001), and achievement of complete ischemia in the upper extremity (23.7% pretest vs. 24.7% post-test; p < 0.001). In the lower extremity, after training, longer application duration (43.33 s to 47.30 s) and lower ischemia achievement (59.8% pretest vs. 37.8% post-test) were obtained. Standardized and regulated training improves device application. More intensive training is necessary to obtain better results.


Assuntos
Hemorragia , Torniquetes , Humanos , Hemorragia/terapia , Estudos Transversais , Estudos Prospectivos , Extremidade Inferior
6.
Neuro Oncol ; 25(2): 303-314, 2023 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-35802478

RESUMO

BACKGROUND: Glioblastoma is the most common and devastating primary brain cancer. Radiotherapy is standard of care; however, it is associated with brain radiation toxicity (BRT). This study used a multi-omics approach to determine whether BRT-related genes (RGs) harbor survival prognostic value and whether their encoded proteins represent novel therapeutic targets for glioblastoma. METHODS: RGs were identified through analysis of single-nucleotide variants associated with BRT (R-SNVs). Functional relationships between RGs were established using Protein-Protein Interaction networks. The influence of RGs and their functional groups on glioblastoma prognosis was evaluated using clinical samples from the Glioblastoma Bio-Discovery Portal database and validated using the Chinese Glioma Genome Atlas dataset. The identification of clusters of radiotoxic and putative pathogenic variants in proteins encoded by RGs was achieved by computational 3D structural analysis. RESULTS: We identified the BRT-related 15CAcBRT molecular signature with prognostic value in glioblastoma, by analysis of the COMT and APOE protein functional groups. Its external validation confirmed clinical relevance independent of age, MGMT promoter methylation status, and IDH mutation status. Interestingly, the genes IL6, APOE, and MAOB documented significant gene expression levels alteration, useful for drug repositioning. Biological networks associated with 15CAcBRT signature involved pathways relevant to cancer and neurodegenerative diseases. Analysis of 3D clusters of radiotoxic and putative pathogenic variants in proteins coded by RGs unveiled potential novel therapeutic targets in neuro-oncology. CONCLUSIONS: 15CAcBRT is a BRT-related molecular signature with prognostic significance for glioblastoma patients and represents a hub for drug repositioning and development of novel therapies.


Assuntos
Neoplasias Encefálicas , Glioblastoma , Humanos , Glioblastoma/patologia , Transcriptoma , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/metabolismo , Prognóstico , Encéfalo/patologia , Apolipoproteínas E/genética , Apolipoproteínas E/metabolismo , Apolipoproteínas E/uso terapêutico
8.
Gerokomos (Madr., Ed. impr.) ; 34(4): 222-228, 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-228995

RESUMO

Objetivo: Determinar la prevalencia de soledad y aislamientosocial de pacientes > 65 años pertenecientes a una población rural, superfil sociodemográfico y los factores condicionantes de la soledad.Metodología: Estudio descriptivo, transversal, analítico, realizado enlos centros de atención primaria de Padrenda (Ourense). Se incluyeron172 pacientes. Se administró un cuestionario conformado por variablessociodemográficas, variables relacionadas con su conectividad digital,estado de salud mediante escala analógica, índice de Barthel, lapregunta simplificada de Blake y Mckay y la escala UCLA. Resultados:La edad media de los participantes fue de 77,85 ± 6,96 años, y elnúmero medio de hijos fue de 2,35 ± 1,26. El 78,5% de las personasdeclararon tener un estado de salud bueno o excelente. El 41,3% delos participantes presentaron algún nivel de soledad no deseada. Enel análisis bivariado, la variable sexo mostró un valor de χ² = 7,692 yde p = 0,021. Vivir solo o en compañía tuvo un valor de χ² = 6,117y de p = 0,047. La edad mostró una χ² = 11,943 y una p = 0,003. Elnúmero de coches y el índice Barthel mostraron una χ² = 11,493 yχ² = 12,003, respectivamente, y una p < 0,003 en ambos casos. Laodds ratio para el estado de salud (malo, regular, bueno y excelente) ypara 2 grupos (con soledad y sin soledad) fue de 0,4 (0,156-0,860).Conclusiones: La edad, ser mujer y recibir poco apoyo social serelacionan con un mayor grado de soledad. Las personas mayores conun sentimiento de soledad pueden presentar un estado de salud peor silas comparamos con personas con un menor sentimiento de soledad. (AU)


Objective: To determine the prevalence of loneliness and socialisolation in patients > 65 years old, belonging to a rural population,their sociodemographic profile and the conditioning factors ofloneliness. Methodology: Descriptive, cross-sectional, analyticalstudy, carried out in the Primary Care Centers of Padrenda(Ourense). 172 patients were included. A questionnaire made upof sociodemographic variables, variables related to their digitalconnectivity, health status using an analog scale, Barthel index,the simplified Blake and Mckay question and the UCLA Scalewas administered. Results: The mean age of the participantswas 77.85 ± 6.96 years, and the mean number of children was2.35 ± 1.26. 78.5% of the people stated that they had a good orexcellent state of health. 41.3% of the participants presented somelevel of unwanted loneliness. In the bivariate analysis, the sex variableshowed a value of χ² = 7.692 and p = 0.021. Living alone or incompany was χ² = 6.117 and p = 0.047. Age showed a χ² = 11.943and p = 0.003. The number of cars and the Barthel index showedχ² = 11.493 and χ² = 12.003, respectively, and p < 0.003 in bothcases. The odds ratio for the state of health (poor, regular, good andexcellent) and for 2 groups (with loneliness and without loneliness) of0.4 (0.156-0.860). Conclusions: Age, being a woman and receivinglittle social support are related to a higher degree of loneliness. Olderpeople with a feeling of loneliness may present a worse state of healthif we compare them with people with a lesser feeling of loneliness. (AU)


Assuntos
Humanos , Idoso , Solidão , Isolamento Social , Apoio Social , Atenção Primária à Saúde , Idoso
9.
Genes (Basel) ; 13(12)2022 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-36553518

RESUMO

Few studies have addressed how selective pressures have shaped the genetic structure of the current Native American populations, and they have mostly limited their inferences to admixed Latin American populations. Here, we searched for local adaptation signals, based on integrated haplotype scores and population branch statistics, in 325 Mexican Indigenous individuals with at least 99% Native American ancestry from five previously defined geographical regions. Although each region exhibited its own local adaptation profile, only PPARG and AJAP1, both negative regulators of the Wnt/ß catenin signaling pathway, showed significant adaptation signals in all the tested regions. Several signals were found, mainly in the genes related to the metabolic processes and immune response. A pathway enrichment analysis revealed the overrepresentation of selected genes related to several biological phenotypes/conditions, such as the immune response and metabolic pathways, in agreement with previous studies, suggesting that immunological and metabolic pressures are major drivers of human adaptation. Genes related to the gut microbiome measurements were overrepresented in all the regions, highlighting the importance of studying how humans have coevolved with the microbial communities that colonize them. Our results provide a further explanation of the human evolutionary history in response to environmental pressures in this region.


Assuntos
Adaptação Fisiológica , Indígena Americano ou Nativo do Alasca , Humanos , México , Adaptação Fisiológica/genética , Hispânico ou Latino , Grupos Raciais
10.
Vive (El Alto) ; 5(15): 660-670, dic. 2022.
Artigo em Espanhol | LILACS | ID: biblio-1424754

RESUMO

El presente artículo tiene como propósito analizar los efectos e impacto de la pandemia COVID-19 en la mortalidad materna de Perú, lo cual afectó la disponibilidad de recursos, equipos, demanda y acceso a los servicios de salud; se agrega el desvío de los recursos humanos, financieros para combatir el brote de la enfermedad infecciosa, el retraso de normas, políticas e insuficiente presupuesto público, fragmentación, desarticulación de los prestadores de salud y vulnerabilidad de los profesionales de salud. Es una investigación de enfoque cualitativo descriptivo y crítico, analizado en el aspecto social y económico de la mortalidad materna, datos epidemiológicos, normas técnicas, y la afectación del COVID-19 en la población gestante. Se analizó el incremento de la mortalidad materna de 45.4% y 56% el año 2020 y 2021 con respecto al año 2019, asimismo el logro alcanzado al 2015 a 68 muertes maternas y una disminución notable de 50% entre el año 2000 y 2019, para sucumbir por la pandemia en un retroceso de 12 años y convertirse la enfermedad COVID-19 en la tercera y primera causa de muerte materna indirecta el año 2020 y 2021. Destacando la aplicación de estrategias que tuvo la Región Lima, como una de las regiones con menor incidencia de 2 y 6 muertes maternas respectivamente. Ante esta problemática se concluyó la priorización de la capacidad resolutiva del primer nivel de atención, capacitación continua del profesional obstetra y la aplicación de estrategias promovidas por la Región Lima.


The purpose of this article is to analyze the effects and impact of the COVID-19 pandemic on maternal mortality in Peru, which affected the availability of resources, equipment, demand and access to health services; in addition to the diversion of human and financial resources to combat the outbreak of the infectious disease, the delay of standards, policies and insufficient public budget, fragmentation, disarticulation of health providers and vulnerability of health professionals. It is a qualitative descriptive and critical research approach, analyzed in the social and economic aspect of maternal mortality, epidemiological data, technical norms, and the affectation of COVID-19 in the pregnant population. The increase in maternal mortality of 45.4% and 56% in 2020 and 2021 with respect to 2019 was analyzed, also the achievement reached in 2015 to 68 maternal deaths and a remarkable decrease of 50% between 2000 and 2019, to succumb to the pandemic in a setback of 12 years and become the disease COVID-19 in the third and first cause of indirect maternal death in 2020 and 2021. It is worth highlighting the implementation of strategies that had the Lima Region as one of the regions with the lowest incidence of 2 and 6 maternal deaths respectively. In view of this problem, it was concluded that priority should be given to the capacity of the first level of care, continuous training of obstetricians and the application of strategies promoted by the Lima Region.


O objetivo deste artigo é analisar os efeitos e o impacto da pandemia COVID-19 na mortalidade materna no Peru, que afetou a disponibilidade de recursos, equipamentos, demanda e acesso a serviços de saúde; além do desvio de recursos humanos e financeiros para combater o surto da doença infecciosa, o atraso das normas, políticas e orçamento público insuficiente, a fragmentação, a desarticulação dos provedores de saúde e a vulnerabilidade dos profissionais de saúde. É uma abordagem de pesquisa qualitativa, descritiva e crítica, analisando os aspectos sociais e econômicos da mortalidade materna, dados epidemiológicos, padrões técnicos e o impacto da COVID-19 sobre a população grávida. Foi analisado o aumento da mortalidade materna de 45,4% e 56% em 2020 e 2021 em relação a 2019, bem como a conquista alcançada em 2015 para 68 mortes maternas e uma diminuição notável de 50% entre 2000 e 2019, para sucumbir à pandemia em um retrocesso de 12 anos e se tornar a doença COVID-19 na terceira e primeira causa de morte materna indireta em 2020 e 2021. A implementação de estratégias na Região de Lima foi destacada como uma das regiões com menor incidência de 2 e 6 mortes maternas, respectivamente. Diante deste problema, concluiu-se que deveria ser dada prioridade à capacidade do primeiro nível de atendimento, ao treinamento contínuo dos obstetras e à aplicação das estratégias promovidas pela Região de Lima.


Assuntos
Mortalidade Materna , Atenção Primária à Saúde , Equipamentos e Provisões , COVID-19
11.
J Control Release ; 349: 712-730, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35905783

RESUMO

Gliomas are the deadliest of all primary brain tumors, and they constitute a serious global health problem. MicroRNAs (miRNAs) are gene expression regulators associated with glioma pathogenesis. Thus, miRNAs represent potential therapeutic agents for treating gliomas. However, miRNAs have not been established as part of the regular clinical armamentarium. This systemic review evaluates current molecular and pre-clinical studies with the aim of defining the most appealing supramolecular platform for administering therapeutic miRNA to patients with gliomas. An integrated analysis suggested that cationic lipid nanoparticles, functionalized with octa-arginine peptides, represent a potentially specific, practical, non-invasive intervention for treating gliomas. This supramolecular platform allows loading both hydrophilic (miRNA) and hydrophobic (anti-tumor drugs, like temozolomide) molecules. This systemic review is the first to describe miRNA delivery systems targeted to gliomas that integrate several types of molecules as active ingredients. Further experimental validation is warranted to confirm the practical value of miRNA delivery systems.


Assuntos
Neoplasias Encefálicas , Glioma , MicroRNAs , Arginina , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/genética , Glioma/tratamento farmacológico , Glioma/genética , Humanos , Lipossomos , MicroRNAs/genética , MicroRNAs/metabolismo , Nanopartículas , Peptídeos , Temozolomida
12.
Rev. ORL (Salamanca) ; 13(2): 147-158, junio 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-211137

RESUMO

El hiperparatiroidismo primario (HPTP) es la principal causa de hipercalcemia en pacientes no hospitalizados, estando causado en el 85-90% de los casos por un adenoma solitario. La cirugía radioguiada de paratiroides (CRGP), como técnica GOSTT (Guided intraOperative Scintigraphic Tumor Targeting), utiliza la SPECT-TC con 99mTc-MIBI como técnica de elección. La PET-TC con 18F-Colina (18FCH) puede emplearse en pacientes con 99mTc-MIBI negativo, obteniéndose sensibilidades próximas al 95%. El uso de la 18FCH en la CRGP es muy complejo recomendándose la utilización de otros trazadores como los 99mTc-Macroagregados (99mTc-MAA) o las semillas de Yodo-125 (125I-Semilla). La CRGP disminuye el tiempo quirúrgico, los costes hospitalarios y la morbilidad sobre el paciente, con una elevada efectividad y eficiencia. (AU)


Primary hyperparathyroidism (PHPT) is the main cause of hypercalcemia in non-hospitalized patients, being caused in 85-90% of cases by a solitary adenoma. Radioguided parathyroid surgery (RGPS), as a GOSTT (Guided intraOperative Scintigraphic Tumor Targeting) technique, uses SPECT-TC with 99mTc -MIBI as the technique of choice. PET-TC with 18F-Choline (18FCH) can be used in patients with negative 99mTc-MIBI, obtaining sensitivities close to 95%. The use of 18FCH in CRGP is very complex, recommending the use of other tracers such as 99mTc-Macroaggregates (99mTc-MAA) or Iodine-125 seeds (125I-Seed). RGPS reduces surgical time, hospital costs and patient morbidity, with high effectiveness and efficiency. (AU)


Assuntos
Humanos , Cirurgia Geral , Hiperparatireoidismo , Colina , Adenoma , Pacientes , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada
13.
Rev. Fac. Med. UNAM ; 65(2): 9-25, mar.-abr. 2022. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1376297

RESUMO

Resumen La lactancia materna se considera una estrategia primordial en la promoción de la salud y prevención de la enfermedad. En este documento se abordan aspectos que hacen evidente la importancia de la lactancia materna para la salud de la madre y su hijo, y el papel de los profesionales de la salud para promover, proteger y apoyar la lactancia materna. Se presenta un panorama epidemiológico de la lactancia en México, los principales constituyentes de la leche, los beneficios de amamantar, tanto para el bebé como para la madre, las barreras y mitos que de alguna manera influyen en la lactancia materna, los principales problemas de la lactancia materna y cómo resolverlos, los pasos propuestos y la técnica para lograr una lactancia exitosa y promover una cultura de lactancia materna.


Abstract Breastfeeding is considered a primary strategy in health promotion and disease prevention. This document addresses aspects that make evident the importance of breastfeeding for the health of the mother and her child, and the role of health professionals to promote, protect and support breastfeeding. An epidemiological panorama of breastfeeding in Mexico is presented, the main constituents of milk, the benefits of breastfeeding, both for the baby and for the mother, the barriers and myths that somehow influence breastfeeding, the main problems of breastfeeding and how to solve them, the proposed steps and the technique to achieve successful breastfeeding and promote a culture of breastfeeding.

14.
Dermatopathology (Basel) ; 8(2): 147-158, 2021 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34070291

RESUMO

Proliferating trichilemmal tumours (PTT) are defined by a benign squamous cell proliferation inside a trichilemmal cystic (TC) cavity. A possible explanation of this proliferative phenomenon within the cyst may be molecular alterations in genes associated to cell proliferation, which can be induced by ultraviolet radiation. Among other genes, alterations on TP53 and DNA mismatch repair proteins (MMR) may be involved in the cellular proliferation observed in PTT. Based on this assumption, but also taking into account the close relationship between the sebaceous ducts and the external root sheath where TC develop, a MMR, a p53 expression assessment and a TP53 study were performed in a series of 5 PTT cases, including a giant one. We failed to demonstrate a MMR disorder on studied PTT, but we agree with previous results suggesting increased p53 expression in these tumours, particularly in proliferative areas. TP53 alteration was confirmed with FISH technique, demonstrating TP53 deletion in most cells.

15.
Eur J Clin Nutr ; 75(11): 1654-1660, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33649525

RESUMO

BACKGROUND/OBJECTIVES: Neck circumference (NC) has been used for screening overweight/obesity for its high correlation with age, weight, body mass index (BMI), and waist circumference (WC). Cut-offs should be population specific. The aim of the study was to obtain cut-offs of NC for overweight/obesity in Mexican adolescents and to correlate them with anthropometric indicators. SUBJECTS/METHODS: Weight, height, BMI, NC, WC, and mid-upper arm circumference (MUAC) of 465 12-14-year-old Mexican-mestizo students attending a public school in Mexico City were assessed. Using receiver operating characteristics analyses, neck cut-offs were obtained according to the WHO age and sex criteria for overweight/obesity. RESULTS: NC cut-offs with the highest sensitivity and specificity for males and females, respectively, were as follows: 30.0 and 29.3 cm for 12-year-olds; 31.9 and 30.4 cm for 13-year-olds; and, 33.5 and 30.7 cm for 14-year-old adolescents. Overweight/obesity was identified with NC cut-offs in 80% of males and 86% of females, and showed significant correlations (p < 0.01) in males and females with weight (r = 0.821 and r = 0.840, respectively), BMI (r = 0.649 and r = 0.819, respectively), WC (r = 0.710 and r = 0.813, respectively) and MUAC (r = 0.736 and r = 0.815, respectively). CONCLUSIONS: Neck circumference may be used as a first-stage screening tool or jointly with BMI to identify overweight/obesity in 12-14-year-old Mexican adolescents.


Assuntos
Obesidade , Sobrepeso , Adolescente , Índice de Massa Corporal , Criança , Feminino , Humanos , Masculino , México/epidemiologia , Obesidade/diagnóstico , Obesidade/epidemiologia , Sobrepeso/diagnóstico , Sobrepeso/epidemiologia , Circunferência da Cintura
16.
López-Arroyo, José L.; Pérez-Zúñiga, Juan M.; Merino-Pasaye, Laura E.; Saavedra-González, Azucena; Alcivar-Cedeño, Luisa María; Álvarez-Vera, José Luis; Anaya-Cuellar, Irene; Arana-Luna, Luara L.; Ávila-Castro, David; Bates-Martín, Ramón A.; Cesarman-Maus, Gabriela; Chávez-Aguilar, Lénica A.; Peña-Celaya, José A. de la; Espitia-Ríos, María E.; Estrada-Domínguez, Patricia; Fermín-Caminero, Denisse; Flores-Patricio, Willy; García Chávez, Jaime; García-Lee, María T.; González-Pérez, María del Carmen; González-Rubio, María del Carmen; González-Villareal, María Guadalupe; Ramírez-Moreno, Fabiola; Hernández-Colin, Ana K.; Hernández-Ruiz, Eleazar; Herrera-Olivares, Wilfrido; Leyto-Cruz, Faustino; Loera-Fragoso, Sergio; Martínez-Ríos, Annel; Miranda-Madrazo, María R.; Morales-Hernández, Alba; Nava-Villegas, Lorena; Orellana-Garibay, Juan J.; Palma-Moreno, Orlando G.; Paredes-Lozano, Eugenia P.; Peña-Alcántara, Paula; Pérez-Lozano, Uendy; Pichardo-Cepín, Yayra M.; Reynoso-Pérez, Ana Carolina; Rodríguez-Serna, Mishel; Rojas-Castillejos, Flavio; Romero-Rodelo, Hilda; Ruíz-Contreras, Josué I.; Segura-García, Adela; Silva-Vera, Karina; Soto-Cisneros, Paulina M.; Tapia-Enríquez, Ana L.; Tavera-Rodríguez, Martha G.; Teomitzi-Sánchez, Óscar; Tepepa-Flores, Fredy; Valencia-Rivas, María D.; Valle-Cárdenas, Teresa; Varela-Constantino, Ana; Javier-Morales, Adrián; Martínez-Ramírez, Mario A.; Tena-Cano, Sergio; Terrazas-Marín, Ricardo; Vilchis-González, Shendel P.; Villela-Peña, Atenas; Mena-Zepeda, Verónica; Alvarado Ibarra, Martha.
Gac. méd. Méx ; 157(supl.1): S1-S37, feb. 2021. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1375490

RESUMO

resumen está disponible en el texto completo


Abstract Hemophilia is a hemorrhagic disorder with a sex-linked inherited pattern, characterized by an inability to amplify coagulation due to a deficiency in coagulation factor VIII (hemophilia A or classic) or factor IX (hemophilia B). Sequencing of the genes involved in hemophilia has provided a description and record of the main mutations, as well as a correlation with the various degrees of severity. Hemorrhagic manifestations are related to levels of circulating factor, mainly affecting the musculoskeletal system and specifically the large joints (knees, ankles and elbows). This document is a review and consensus of the main genetic aspects of hemophilia, from the inheritance pattern to the concept of women carriers, physiopathology and classification of the disorder, the basic and confirmation studies when hemophilia is suspected, the various treatment regimens based on infusion of the deficient coagulation factor as well as innovative factor-free therapies and recommendations for the management of complications associated with treatment (development of inhibitors and/or transfusion transmitted infections) or secondary to articular hemorrhagic events (hemophilic arthropathy). Finally, relevant reviews of clinical and treatment aspects of hemorrhagic pathology charachterized by acquired deficiency of FVIII secondary to neutralized antibodies named acquired hemophilia.

17.
Rev. méd. Urug ; 36(4): 455-458, dic. 2020. graf
Artigo em Espanhol | LILACS, BNUY | ID: biblio-1144763

RESUMO

Resumen: La ligadura de una rama de la vena porta constituye un procedimiento con buenos resultados para evitar la falla hepática posoperatoria en caso de hepatectomías extremas al provocar la hipertrofia del hígado contralateral. Sin embargo, la repermeabilización de ésta ha sido demostrada por la presencia de anastomosis porto portales intrahepáticas, pudiendo determinar una disminución de la hipertrofia esperada o necesaria. Como objetivo documentamos un caso clínico de repermeabilización intrahepática de la vena porta, evento no deseado de la hepatectomía en dos tiempos para el tratamiento de metástasis hepáticas bilobares de origen colorrectal y describimos alternativas para evitar o tratar dicha repermeabilización.


Summary: Left or right portal vein ligation to prevent post-operative liver failure in the case of extreme hepatectomy constitutes a procedure with a good prognosis, as it causes contralateral liver hypertrophy. However, its revascularization has been proved by intrahepatic porto-portal anastomoses, which could result in a reduction of the expected or required hypertrophy. The study aims to record a clinical case of intrahepatic revascularization of the portal vein, an unwanted event of the two-stage hepatectomy to treat bilobar hepatic metastasis of colorectal origin, and describe alternatives to avoid or treat such revascularization.


Resumo: A ligadura de um ramo da veia porta é um procedimento com bons resultados para evitar a insuficiência hepática pós-operatória em hepatectomias extremas por causar hipertrofia do fígado contralateral. No entanto, sua repermeabilização tem sido demonstrada pela presença de anastomose porto-portal intra-hepática, que pode determinar diminuição da hipertrofia esperada ou necessária. Como objetivo, documentamos um caso clínico de repermeabilização da veia porta intra-hepática, um evento indesejado de hepatectomia em dois estágios para o tratamento de metástases hepáticas bilobares de origem colorretal, e descrevemos alternativas para evitar ou tratar essa repermeabilização.


Assuntos
Veia Porta , Falência Hepática/terapia , Ligadura , Neoplasias Colorretais/terapia , Hepatectomia/efeitos adversos , Neoplasias Hepáticas/terapia , Metástase Neoplásica
18.
Infectio ; 24(2): 66-70, abr.-jun. 2020. tab, graf
Artigo em Inglês | LILACS, COLNAL | ID: biblio-1114842

RESUMO

Objectives: The Dominican Republic lacks reliable information on antimicrobial resistance (AMR), which would allow physicians to prescribe the best treatment for common infectious diseases. This study aimed to define the antimicrobial resistance profiles of the more common pathogens from pediatric services, where data is even more important due to the vulnerability of the population. Methods: We collected data from patients admitted in the pediatric unit of three third level hospitals in the city of Santiago de los Caballeros, Dominican Republic, showing positive bacterial cultures, during a period of two years. Results: Half of the Gram negative pathogens exhibited third generation cephalosporins (3GC) resistance, 17% were resistant to carbapenems. Serratia marcescens presented an exceptionally high proportion of resistance to 3GC (95.9%). Staphylococcus aureus showed elevated resistance to methicillin (58.4%) and even to clindamycin (35.8%). Conclusion: There are elevated levels of antimicrobial resistance among the Enterobacteriaceae family and the Staphylococcus genus isolated from the pediatric population. Necessary measures should be taken to tackle AMR in the country.


Objetivos: La República Dominicana carece de información confiable sobre las resistencias antimicrobianas en el país, lo que permitiría al personal médico prescribir los mejores tratamientos para infecciones comunes. El objetivo de este estudio es definir los perfiles de resistencia antimicrobiana de los patógenos más comunes en servicios pediátricos, donde esta información es esencial, debido a la vulnerabilidad de la población. Métodos: Se tomaron los datos de reportes microbiológicos con cultivo bacteriano positivo procedentes de pacientes admitidos en la unidad pediátrica de tres hospitales de tercer nivel en la ciudad de Santiago de los Caballeros, República Dominicana, durante un periodo de dos años. Resultados: La mitad de los patógenos Gram negativos mostraron resistencia a cefalosporinas de tercera generación (3GC), 17% eran resistentes a carbapenémicos. Serratia marcescens presentó una resistencia excepcionalmente elevada a 3GC (95.9%). Staphylococcus aureus mostró alta resistencia a meticilina (58.4%) e incluso a clindamicina (35.8%). Conclusión: Existen elevados niveles de resistencia antimicrobiana entre las enterobacterias y los estafilococos en la población pediátrica dominicana. Es necesario tomar medidas para abordar este problema en el país.


Assuntos
Humanos , Masculino , Feminino , Criança , Farmacorresistência Bacteriana , Pediatria , Atenção Terciária à Saúde , Clindamicina , Carbapenêmicos , República Dominicana , Meticilina
19.
Rev Lat Am Enfermagem ; 28: e3251, 2020.
Artigo em Inglês, Português, Espanhol | MEDLINE | ID: mdl-32321042

RESUMO

OBJECTIVE: to construct and validate a tool for the evaluation of responders in tactical casualty care simulations. METHOD: three rubrics for the application of a tourniquet, an emergency bandage and haemostatic agents recommended by the Hartford Consensus were developed and validated. Validity and reliability were studied. Validation was performed by 4 experts in the field and 36 nursing participants who were selected through convenience sampling. Three rubrics with 8 items were evaluated (except for the application of an emergency bandage, for which 7 items were evaluated). Each simulation was evaluated by 3 experts. RESULTS: an excellent score was obtained for the correlation index for the 3 simulations and 2 levels that were evaluated (competent and expert). The mean score for the application of a tourniquet was 0.897, the mean score for the application of an emergency bandage was 0.982, and the mean score for the application of topical haemostats was 0.805. CONCLUSION: this instrument for the evaluation of nurses in tactical casualty care simulations is considered useful, valid and reliable for training in a prehospital setting for both professionals who lack experience in tactical casualty care and those who are considered to be experts.


Assuntos
Serviços Médicos de Emergência/normas , Tratamento de Emergência/normas , Adulto , Feminino , Hemorragia , Humanos , Masculino , Incidentes com Feridos em Massa , Reprodutibilidade dos Testes , Torniquetes
20.
Water Res ; 176: 115710, 2020 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-32251942

RESUMO

Eutrophication and climate change scenarios engender the need to develop good predictive models for harmful cyanobacterial blooms (CyanoHABs). Nevertheless, modeling cyanobacterial biomass is a challenging task due to strongly skewed distributions that include many absences as well as extreme values (dense blooms). Most modeling approaches alter the natural distribution of the data by splitting them into zeros (absences) and positive values, assuming that different processes underlie these two components. Our objectives were (1) to develop a probabilistic model relating cyanobacterial biovolume to environmental variables in the Río de la Plata Estuary (35°S, 56°W, n = 205 observations) considering all biovolume values (zeros and positive biomass) as part of the same process; and (2) to use the model to predict cyanobacterial biovolume under different risk level scenarios using water temperature and conductivity as explanatory variables. We developed a compound Poisson-Gamma (CPG) regression model, an approach that has not previously been used for modeling phytoplankton biovolume, within a Bayesian hierarchical framework. Posterior predictive checks showed that the fitted model had a good overall fit to the observed cyanobacterial biovolume and to more specific features of the data, such as the proportion of samples crossing three threshold risk levels (0.2, 1 and 2 mm³ L-1) at different water temperatures and conductivities. The CPG model highlights the strong control of cyanobacterial biovolume by nonlinear and interactive effects of water temperature and conductivity. The highest probability of crossing the three biovolume levels occurred at 22.2 °C and at the lowest observed conductivity (∼0.1 mS cm-1). Cross-validation of the fitted model using out-of-sample observations (n = 72) showed the model's potential to be used in situ, as it enabled prediction of cyanobacterial biomass based on two readily measured variables (temperature and conductivity), making it an interesting tool for early alert systems and management strategies. Furthermore, this novel application demonstrates the potential of the Bayesian CPG approach for predicting cyanobacterial dynamics in response to environmental change.


Assuntos
Cianobactérias , Água , Teorema de Bayes , Biomassa , Monitoramento Ambiental , Eutrofização , Temperatura
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