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1.
Sci Total Environ ; 927: 172161, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38599402

RESUMEN

The $882 billion textile trade in 2021 poses environmental concerns, highlighting the importance of encouraging a circular economy to attain sustainable textiles. Therefore, policies must prioritize textile recycling, particularly in developing countries, and sharing information throughout the value chain. This research aims to explore the potential environmental benefits of two industrial recycling processes for textile residues versus the traditional waste management and production process through a life cycle assessment applying the ReCiPe method at midpoint and endpoint levels focusing on generating significant data availability and broader assessment than existing literature to support decision making related to recycling systems for textile residues. Results related to the textile residues recycling process to obtain stripes (R1) and replace sawdust, to fill pushing balls, show that it would produce environmental benefits regardless of location in several midpoint categories. Furthermore, regarding the endpoint results, the DALY savings are mainly due to avoiding landfill, while the savings in ecosystem impacts are generated by avoiding landfill and sawdust production. Regarding the recycling process to obtain recycled yarn and fill (R2) net savings in global warming potential are generated if landfill avoidance is considered. Nevertheless, endpoint results show that DALYs of all the avoided processes correspond to 1.5 times the impacts of all the R2 recycling processes, mainly due to avoiding virgin yarn production. Therefore, both recycling processes are recommended. However, some strategies are required to generate greater benefits, such as applying the R2 recycling process as the first option for stretchable textile waste, and after being used, going through the R1 recycling process. In addition, the strategic placement of the R1 recycling facility should be distant from areas of sawdust production. A sensitivity analysis was carried out due to the variability of virgin products to replace in the market.

2.
Waste Manag ; 177: 106-114, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38306920

RESUMEN

Market concentration among buyers of recycled materials is a phenomenon discussed since the 1980 s by the anti-trust literature. Yet, there is still a lack of studies on simultaneous market concentration on both the supply and demand sides. This is particularly relevant when Extended Producer Responsibility (EPR) policies produce two-sided waste generation and valorisation markets. Thus, the purpose of this study is to explore the link between market concentration on the generation side and market share on the valorisation side. Specifically, this research addresses the case of valorisation of commercial and industrial non-hazardous waste in Chile. The analysis covers 261 companies that valorised industrial and commercial non-hazardous waste between 2015 and 2019. Being part of the top 10 % of generator companies in Chile is significantly correlated to higher valorisation market share, in a context in which mean market share per company decreased, total tons valorised stagnated, and the country-level valorisation rate diminished.


Asunto(s)
Industrias , Políticas , Chile , Reciclaje
3.
Revista Digital de Postgrado ; 12(3): 372, dic. 2023. tab
Artículo en Español | LILACS, LIVECS | ID: biblio-1531773

RESUMEN

La presente revisión surge dada la importancia otorgada a la Encuesta Nacional de Condiciones de Vida (ENCOVI) de Venezuela, la edición de dicha encuesta proporciona información representativa de la situacióneconómica, social y de salud de los hogares del país. Los resultados de la encuesta permiten a investigadores y expertos analizar y comprender la magnitud de la crisis en sus diversos aspectos y sus efectos sobre la población y las condiciones de vida, lo que la convierte en una herramienta esencial para entender los problemas que enfrenta la población de Venezuela y la forma de abordarlos de manera efectiva. La ENCOVI proporciona información útil, no solo, a la sociedad civil y Organizaciones No Gubernamentales (ONGs), también a instituciones gubernamentales, al ser divulgada a través de medios de comunicación, aportando importantes insumos para el abordaje de los problemas públicos y los desafíos encada sector, permitiendo comprender las condiciones de vida en los hogares venezolanos. La investigación se basa en un diseño bibliográfico-documental, efectuando para ello 6 fases constituidas por: búsqueda, compilación, revisión, selección,organización y examen sistemático. El objetivo es describir aspectos metodológicos utilizados en la encuesta nacional de condiciones de vida desde el 2014 hasta el 2022.


The present review arises given the importance givento the National Survey of Living Conditions (ENCOVI) of Venezuela, the edition of said survey provides representative information on the economic, social and health situation ofhouseholds in the country. The results of the survey allowresearchers and experts to analyze and understand the magnitudeof the crisis in its various aspects and its effects on the populationand living conditions, which makes it an essential tool tounderstand the problems faced by the population. of Venezuelaand how to address them effectively. The ENCOVI providesuseful information, not only to civil society and NGOs, butalso to government institutions when disseminated throughthe media, providing important inputs for addressing publicproblems and challenges in each sector, allowing understandingof the conditions of life in Venezuelan homes. The research is based on a bibliographic-documentary design, carrying out6 phases consisting of: search, compilation, review, selection,organization and systematic review. The objective is to describemethodological aspects used in the national survey of livingconditions from 2014 to 2022.


Asunto(s)
Humanos , Masculino , Femenino , Condiciones Sociales/economía , Condiciones Sociales/estadística & datos numéricos , Encuestas y Cuestionarios/estadística & datos numéricos , Factores Socioeconómicos , Sistema Único de Salud , Demografía , Estado Nutricional , Gobierno
4.
Int J Mol Sci ; 24(16)2023 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-37629140

RESUMEN

We assessed whether allicin, through its antihypertensive and antioxidant effects, relieves vascular remodeling, endothelial function, and oxidative stress (OS), thereby improving experimental pulmonary arterial hypertension (PAH). Allicin (16 mg/kg) was administered to rats with PAH (monocrotaline 60 mg/kg). Allicin encouraged body weight gain and survival rate, and medial wall thickness and the right ventricle (RV) hypertrophy were prevented. Also, angiotensin II concentrations in the lung (0.37 ± 0.01 vs. 0.47 ± 0.06 pmoles/mL, allicin and control, respectively) and plasma (0.57 ± 0.05 vs. 0.75 ± 0.064, allicin and control respectively) and the expressions of angiotensin-converting enzyme II and angiotensin II type 1 receptor in lung tissue were maintained at normal control levels with allicin. In PAH rats treated with allicin, nitric oxide (NO) (31.72 ± 1.22 and 51.4 ± 3.45 pmoles/mL), tetrahydrobiopterin (8.43 ± 0.33 and 10.14 ± 0.70 pmoles/mL), cyclic guanosine monophosphate (5.54 ± 0.42 and 5.64 ± 0.73 pmoles/mL), and Ang-(1-7) (0.88 ± 0.23 and 0.83 ± 0.056 pmoles/mL) concentrations increased in lung tissue and plasma, respectively. In contrast, dihydrobiopterin increase was prevented in both lung tissue and plasma (5.75 ± 0.3 and 5.64 ± 0.73 pmoles/mL); meanwhile, phosphodiesterase-5 was maintained at normal levels in lung tissue. OS in PAH was prevented with allicin through the increased expression of Nrf2 in the lung. Allicin prevented the lung response to hypoxia, preventing the overexpression of HIF-1α and VEGF. Allicin attenuated the vascular remodeling and RV hypertrophy in PAH through its effects on NO-dependent vasodilation, modulation of RAS, and amelioration of OS. Also, these effects could be associated with the modulation of HIF-1α and improved lung oxygenation. The global effects of allicin contribute to preventing endothelial dysfunction, remodeling of the pulmonary arteries, and RV hypertrophy, preventing heart failure, thus favoring survival. Although human studies are needed, the data suggest that, alone or in combination therapy, allicin may be an alternative in treating PAH if we consider that, similarly to current treatments, it improves lung vasodilation and increase survival. Allicin may be considered an option when there is a lack of efficacy, and where drug intolerance is observed, to enhance the efficacy of drugs, or when more than one pathogenic mechanism must be addressed.


Asunto(s)
Hipertensión Arterial Pulmonar , Humanos , Animales , Ratas , Remodelación Vascular , Hipertensión Pulmonar Primaria Familiar , Hipertrofia
5.
Sci Total Environ ; 899: 165388, 2023 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-37454859

RESUMEN

The amount and characterization of municipal and industrial waste generated in numerous cities worldwide have changed dramatically in recent years due to the COVID-19 pandemic. Consequently, assessing the impact of COVID-19-related policies is important to provide decision-makers with adequate knowledge to respond effectively to future events and create successful policies that respond to specific contexts. This study focuses on Chile, Latin America's second-largest municipal and industrial solid waste producer, with tight quarantine procedures placed to prevent the virus from spreading, and a series of monetary incentives implemented to minimize the economic and social impact of the quarantines. The time series of municipal solid waste (MSW) and recycling in the metropolitan region show a decrease in the amount collected during the initial months of lockdown and a subsequent increase during monetary incentive implementation. The country recovered and exceeded pre-pandemic MSW generation and recycling levels. Furthermore, the lockdown and the withdrawal of retirement funds (WRF) had a varied impact on each municipality in the region. However, WRF had a larger direct impact than a lockdown, indicating that purchasing power has a greater impact than mobility in waste generation and recycling, at least in this region of Chile.


Asunto(s)
COVID-19 , Eliminación de Residuos , Administración de Residuos , Humanos , Eliminación de Residuos/métodos , Residuos Sólidos/análisis , Administración de Residuos/métodos , Chile , Pandemias , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Reciclaje/métodos , Ciudades
6.
Int J Mol Sci ; 24(12)2023 Jun 16.
Artículo en Inglés | MEDLINE | ID: mdl-37373366

RESUMEN

The foraging (for) gene of Drosophila melanogaster encodes a cGMP-dependent protein kinase (PKG), which is a major effector of the cGMP signaling pathway involved in the regulation of behaviour and metabolic traits. Despite being well studied at the transcript level, little is known about the for gene at the protein level. Here, we provide a detailed characterization of the for gene protein (FOR) products and present new tools for their study, including five isoform-specific antibodies and a transgenic strain that carries an HA-labelled for allele (forBAC::HA). Our results showed that multiple FOR isoforms were expressed in the larval and adult stages of D. melanogaster and that the majority of whole-body FOR expression arises from three (P1, P1α, and P3) of eight putative protein isoforms. We found that FOR expression differed between the larval and adult stages and between the dissected larval organs we analyzed, which included the central nervous system (CNS), fat body, carcass, and intestine. Moreover, we showed that the FOR expression differed between two allelic variants of the for gene, namely, fors (sitter) and forR (rover), that are known to differ in many food-related traits. Together, our in vivo identification of FOR isoforms and the existence of temporal, spatial, and genetic differences in their expression lay the groundwork for determining their functional significance.


Asunto(s)
Proteínas de Drosophila , Drosophila melanogaster , Animales , Drosophila melanogaster/metabolismo , Conducta Alimentaria/fisiología , Animales Modificados Genéticamente , Fenotipo , Isoformas de Proteínas/genética , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo
7.
Ann N Y Acad Sci ; 1526(1): 99-113, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-37350250

RESUMEN

Genes are often pleiotropic and plastic in their expression, features which increase and diversify the functionality of the genome. The foraging (for) gene in Drosophila melanogaster is highly pleiotropic and a long-standing model for studying individual differences in behavior and plasticity from ethological, evolutionary, and genetic perspectives. Its pleiotropy is known to be linked to its complex molecular structure; however, the downstream pathways and interactors remain mostly elusive. To uncover these pathways and interactors and gain a better understanding of how pleiotropy and plasticity are achieved at the molecular level, we explore the effects of different for alleles on gene expression at baseline and in response to 4 h of food deprivation, using RNA sequencing analysis in different Drosophila larval tissues. The results show tissue-specific transcriptomic dynamics influenced by for allelic variation and food deprivation, as well as genotype by treatment interactions. Differentially expressed genes yielded pathways linked to previously described for phenotypes and several potentially novel phenotypes. Together, these findings provide putative genes and pathways through which for might regulate its varied phenotypes in a pleiotropic, plastic, and gene-structure-dependent manner.


Asunto(s)
Drosophila melanogaster , Transcriptoma , Animales , Drosophila melanogaster/genética , Fenotipo , Larva/fisiología , Pleiotropía Genética
8.
Gels ; 8(10)2022 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-36286128

RESUMEN

In this work, a photo-polymerization route was used to obtain potassium acrylate-co-acrylamide hydrogels with enhanced mechanical properties, well-defined microstructures in the dry state, and unique meso- and macrostructures in the hydrated state. The properties of the hydrogels depended on the concentration of the crosslinking agent. Mechanical properties, swelling capacity, and morphology were analyzed, showing a well-defined transition at a critical concentration of the crosslinker. In terms of morphology, shape-evolving surface patterns appeared at different scales during swelling. These surface structures had a noticeable influence on the mechanical properties. Hydrogels with structures exhibited better mechanical properties compared to unstructured hydrogels. The critical crosslinking concentration reported in this work (using glycerol diacrylate) is a reference point for the future preparation of multistructured acrylic hydrogel with enhanced properties.

10.
Sci Total Environ ; 830: 154542, 2022 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-35337866

RESUMEN

Global population growth and rising living standards are increasing apparel consumption. Consequently, the consumption of resources and the generation of textile waste are increasing exponentially. For instance, according to the World Bank, Chile has increased textile imports by 500% in the last 20 years, even though the population has only increased by 26%. This textile import increase has resulted in the clothing desert that has been seen recently in northern Chile because most of the textiles at the end of their useful life will be disposed of in landfills or open dumps. This evidences the urgency of more efficient technologies that reduce the consumption of resources and that value waste on the way to a circular and sustainable economy. Since the textile recycling industry and environmental impact studies are currently in their nascent stages in Chile, the objective of this article is to explore the potential environmental benefits of a textile recycling process and, therefore, the related challenges towards more sustainable options. The considered textile recycling process incorporates mixed waste and is compared with landfills in terms of CO2eq because it represents the conventional treatment of waste and the substitution of products from primary sources. The results show that textile waste landfills emit 423.4 kg CO2eq per ton, while products from primary sources emit an average of 6496.65 kg CO2eq, compared to the textile recycling process that only it emits 1142.12 kg CO2eq per ton, obtaining an average of 5778 kg CO2eq avoided per ton of textile waste, achieving environmental benefits. However, it is necessary to highlight the dependence of this result on the choice of replaced products and the energy matrix. Thus, we assessed the energy matrix, evaluating the positive impact of implementing an energy matrix based on wind or solar energy.


Asunto(s)
Huella de Carbono , Administración de Residuos , Chile , Reciclaje , Textiles , Instalaciones de Eliminación de Residuos
11.
Rev. colomb. cardiol ; 28(3): 263-268, mayo-jun. 2021. tab
Artículo en Español | LILACS, COLNAL | ID: biblio-1341294

RESUMEN

Resumen Objetivo: Evaluar el efecto del programa de rehabilitación cardiaca en la calidad de vida, la clase funcional y la tolerancia al ejercicio de pacientes con enfermedad coronaria en un centro médico de la ciudad de Medellín. Método: Estudio descriptivo, longitudinal, comparativo antes y después, del cambio en la calidad de vida, la clase funcional y la tolerancia al ejercicio de pacientes con enfermedad coronaria sometidos a rehabilitación cardiaca. Resultados: Completaron 12 sesiones de rehabilitación 41 pacientes, de los que 28 eran hombres (68.3%), con una edad promedio de 61.59 ± 9.5 años. La frecuencia cardiaca máxima lograda tuvo una reducción estadísticamente significativa (p < 0.0001). Tanto la clase funcional como la capacidad funcional no presentaron cambios significativos con el programa de rehabilitación; el peso y el índice de masa corporal tampoco se modificaron. Posterior al programa de rehabilitación se observó una mejoría significativa en los dominios de función física, dolor, salud general, vitalidad y salud mental. Conclusiones: Luego del programa de rehabilitación se observaron mejorías en la calidad de vida de los participantes, en los dominios físicos, de dolor, salud general, vitalidad y salud mental.


Abstract Objective: To assess the effect of a cardiac rehabilitation program on the quality of life, functional status and exercise tolerance of patients with coronary heart disease in a medical center in the city of Medellín. Method: A descriptive, longitudinal study comparing the change in quality of life, functional status and exercise tolerance of patients with coronary heart disease undergoing cardiac rehabilitation. Results: Twelve rehabilitation sessions were completed by 41 patients, 28 were men (68.3%). The mean age was 61.59 ± 9.5 years. The maximum heart rate had a statistically significant reduction (p < 0.0001). Both functional status and functional capacity did not show a significant change with the rehabilitation program, weight and body mass index were neither modified. Significant improvement was observed in the domains of physical function, pain, general health, vitality and mental health after the rehabilitation program. Conclusions: The rehabilitation program improved quality of life, physical and pain domains, vitality and mental health of participants.


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Rehabilitación Cardiaca , Calidad de Vida , Enfermedad Coronaria
12.
J Neurogenet ; 35(3): 179-191, 2021 09.
Artículo en Inglés | MEDLINE | ID: mdl-33944658

RESUMEN

The foraging (for) gene has been extensively studied in many species for its functions in development, physiology, and behavior. It is common for genes that influence behavior and development to be essential genes, and for has been found to be an essential gene in both fruit flies and mammals, with for mutants dying before reaching the adult stage. However, the biological process underlying the lethality associated with this gene is not known. Here, we show that in Drosophila melanogaster, some but not all gene products of for are essential for survival. Specifically, we show that promoter 3 of for, but not promoters 1, 2, and 4 are required for survival past pupal stage. We use full and partial genetic deletions of for, and temperature-restricted knock-down of the gene to further investigate the stage of lethality. While deletion analysis shows that flies lacking for die at the end of pupal development, as pharate adults, temperature-restricted knock-down shows that for is only required at the start of pupal development, for normal adult emergence (AE) and viability. We further show that the inability of these mutants to emerge from their pupal cases is linked to deficiencies in emergence behaviors, caused by a possible energy deficiency, and finally, that the lethality of for mutants seems to be linked to protein isoform P3, transcribed from for promoter 3.


Asunto(s)
Proteínas Quinasas Dependientes de GMP Cíclico/genética , Proteínas de Drosophila/genética , Drosophila melanogaster/fisiología , Regulación del Desarrollo de la Expresión Génica/genética , Metamorfosis Biológica/genética , Animales
13.
Waste Manag ; 124: 314-324, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-33647557

RESUMEN

Municipal solid waste (MSW) management is an important challenge in developing and emerging countries, where two realities co-exist. On the one hand, their metropolitan cities exhibit an integrated MSW system with a specialized fleet for the collection and landfills for the final disposal, concentrating on environmental initiatives such as municipal recycling programs. On the other hand, their regional cities show an MSW system based on adapted transports for collection and open dumps for final disposal. Besides, they face other environmental problems due to local conditions. This research proposes a life cycle assessment (LCA) approach to close the gap between these two realities. In particular, we study the city of Valdivia (Chile), one of the main regional capitals of South America, which shares similarities with other southern regional cities in the Global South. This city disposes 95% of its MSW in open dumps and presents one of the highest environmental pollution rates in Latin America. We analyze the greenhouse gas (GHG) emissions and energy performance of six scenarios, seeking a solution for these problems. The results obtained show that a waste-to-energy scenario would generate savings of GHG emission and particulate matter, reaching 11.3% and 21.8%, respectively. Using our LCA approach, we can provide environmental evidence to highlight the importance of improving MSW management in regional cities, closing the gap with MSW management in metropolitan cities, and contributing to national targets such as United Nations Sustainable Development Goals and Nationally-Determined Contributions.


Asunto(s)
Eliminación de Residuos , Administración de Residuos , Animales , Ciudades , Países en Desarrollo , Estadios del Ciclo de Vida , Residuos Sólidos/análisis , América del Sur
14.
Rev. cient. odontol ; 7(1): 132-139, ene.-jun. 2019.
Artículo en Español | LILACS, LIPECS | ID: biblio-1006014

RESUMEN

La gingivitis es la enfermedad más prevalente, pues afecta entre un 5% y un 70% de la población mundial, y puede incluso llegar hasta un 90%. En cambio, la enfermedad periodontal (EP) alcanza un promedio del 30% al 80%, y es más frecuente a partir del segundo trimestre de embarazo. En América Latina, afecta entre un 30% y un 40% de la población. Se estima que durante el embarazo hay un mayor riesgo a contraer enfermedad periodontal en una proporción de 1 de cada 5 mujeres. La enfermedad periodontal es una enfermedad inflamatoria que perjudica a los tejidos de soporte del diente (encía, cemento radicular, ligamento periodontal y hueso alveolar).Se ha demostrado que existe una relación directa entre el agravamiento de la EP con el embarazo. Esto se debe a la variación hormonal que ocurre en este periodo, la cual promueve el crecimiento excesivo de microorganismos patógenos responsables de la inflamación gingival. Entre estos microorganismos patógenos encontramos a Prevotella intermedia y Porphyromonas gingivalis. Esta última, junto a Fusobacterium nucleatum, son capaces de atravesar la barrera placen-taria y causar infecciones y resultados adversos en el embarazo, tales como parto prematuro, preeclampsia y muerte fetal. (AU)


Gingivitis is the most prevalent disease worldwide, affecting from 5 to 70% of the population and reaching up to 90%. On the other hand, the mean prevalence of periodontal disease (PD) is 30 to 80%, being more frequent in the second trimester of pregnancy. Periodontal disease is an inflammatory disease of the tissues supporting (gingiva, root cement, periodontal ligament and alveolar bone). In Latin America, PD affects between 30 and 40% of the population, and it is estimated that 1 to 5 women will develop PD during pregnancy. It has been shown that there is a direct relationship between the aggravation of PD and pregnancy. This is due to hormonal changes during gestation, which promote the excessive growth of pathogenic microorganisms responsible for gingival inflammation.These pathogenic microorganisms include Prevotella intermedia and Porphyromonas gingivalis. The latter, together with Fusobacterium nucleatum. are able to cross the placental barrier causing infections and adverse preg-nancy outcomes, such as premature birth, preeclampsia, fetal death and metrial arteritis. (AU)


Asunto(s)
Humanos , Femenino , Enfermedades Periodontales , Embarazo , Microbiota , Rutas de Resultados Adversos , Gingivitis
15.
Rev. ecuat. neurol ; 28(1): 95-100, ene.-abr. 2019. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1013998

RESUMEN

RESUMEN Introducción: La acidemia propiónica (AP) es una acidemia orgánica (AO) con presentación clínica de inicio neonatal o de forma tardía. Causada por deficiencia de la enzima propionil-CoA carboxilasa que ocasiona acumulación de ácido propiónico y metabolitos relacionados con propionil-CoA en los tejidos. Es característica la hiperglicinemia, pero puede presentarse hiperlisinemia. Este trabajo describe un caso clínico de AP de inicio neonatal con desenlace fatal y alteración llamativa de los aminoácidos. Caso clínico: Recién nacido (RN) femenina ingresa a unidad neonatal al tercer día de vida por hipoactividad, vómito y letargia. Posterior dificultad respiratoria y realiza paros cardiacos, falleciendo antes de establecer un diagnóstico bioquímico. Paraclínicos iniciales evidenciaron acidosis metabólica, leucopenia, hipoglicemia, posteriormente se documenta hiperglicininemia, hipercistinemia y severa hiperlisininemia. La cromatografía de ácidos orgánicos en orina identificó ácido 3-hidroxi-propionico, metilcitrato y propionilglicina entre otros metabolitos tóxicos, confirmando el diagnóstico. Conclusiones: La AP es un error innato del metabolismo autosómico recesivo de baja incidencia. La presencia de acidosis metabólica severa, pancitopenia, hipoglicemia y antecedentes familiares deben alertar sobre este diagnóstico. Adicionalmente, aunque el diagnóstico bioquímico definitivo son los ácidos orgánicos en orina, la presencia de hiperamonemia, hiperglicinemia e hiperlisinemia pueden ser altamente sugestivas de este trastorno.


ABSTRACT Introduction: Propionic acidemia (AP) is an organic acidemia (AO) with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids. Clinical case: Female newborn (RN) admitted in the neonatal unit on the third day of life due to hypoactivity, vomiting and lethargy. Subsequent respiratory distress and cardiac arrest occurred, dying before a biochemical diagnosis was established. Initial paraclinics evidenced metabolic acidosis, leukopenia, hypoglycemia, later documented hyperglycinemia, hypercystinemia and severe hyperlysinemia. The organic acid chromatography in urine identified 3-hydroxy-propionic acid, methyl citrate and propionylglycine among other toxic metabolites, confirming the diagnosis. Conclusions: AP is an inborn error of autosomal recessive metabolism of low incidence. The presence of severe metabolic acidosis, pancytopenia, hypoglycemia and family history should alert about this diagnosis. Additionally, although the definitive biochemical diagnosis is organic acids in urine, the presence of hyperammonemia, hyperglycinemia and hyperlysinemia can be highly suggestive of this disorder.

16.
J Cell Sci ; 132(7)2019 04 05.
Artículo en Inglés | MEDLINE | ID: mdl-30837290

RESUMEN

Sustained neurotransmission requires the tight coupling of synaptic vesicle (SV) exocytosis and endocytosis. The mechanisms underlying this coupling are poorly understood. We tested the hypothesis that a cGMP-dependent protein kinase (PKG), encoded by the foraging (for) gene in Drosophila melanogaster, is critical for this process using a for null mutant, genomic rescues and tissue-specific rescues. We uncoupled the exocytic and endocytic functions of FOR in neurotransmission using a temperature-sensitive shibire mutant in conjunction with fluorescein-assisted light inactivation of FOR. We discovered a dual role for presynaptic FOR, in which FOR inhibits SV exocytosis during low-frequency stimulation by negatively regulating presynaptic Ca2+ levels and maintains neurotransmission during high-frequency stimulation by facilitating SV endocytosis. Additionally, glial FOR negatively regulated nerve terminal growth through TGF-ß signalling, and this developmental effect was independent of the effects of FOR on neurotransmission. Overall, FOR plays a critical role in coupling SV exocytosis and endocytosis, thereby balancing these two components to maintain sustained neurotransmission.


Asunto(s)
Proteínas Quinasas Dependientes de GMP Cíclico/metabolismo , Proteínas de Drosophila/metabolismo , Unión Neuromuscular/metabolismo , Transmisión Sináptica , Vesículas Sinápticas/metabolismo , Animales , Proteínas Quinasas Dependientes de GMP Cíclico/genética , Proteínas de Drosophila/genética , Drosophila melanogaster , Endocitosis , Exocitosis , Mutación , Terminales Presinápticos/metabolismo , Transducción de Señal , Vesículas Sinápticas/genética , Factor de Crecimiento Transformador beta/metabolismo
17.
Dev Psychobiol ; 60(8): 889-902, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30101500

RESUMEN

Rat dams differ naturally in the level of maternal care they provide to their offspring within the same litter. We explored possible mechanisms of differential maternal care focused on genetic variation. We examined single nucleotide polymorphisms in the glucocorticoid receptor, FK506-binding protein, and serotonin transporter genes in two separate cohorts, and the relationship between differential maternal care received, genotype, and offspring phenotype. Allelic variation in all three genes was significantly associated with levels of maternal care received by offspring and behavioral and endocrine stress responses in adulthood. Differences in pup behavior were also associated with allelic variation in these genes. Together, these results indicate that the dam/pup interaction is dynamic and implicate the genotype of the offspring in influencing the level of maternal care received. They further suggest that some genotypes may have a dampening effect on the impact of maternal care on stress-related phenotypes in adulthood.


Asunto(s)
Ansiedad , Conducta Animal/fisiología , Conducta Materna/fisiología , Receptores de Glucocorticoides/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Estrés Psicológico , Proteínas de Unión a Tacrolimus/genética , Animales , Ansiedad/genética , Ansiedad/fisiopatología , Femenino , Genotipo , Fenotipo , Polimorfismo de Nucleótido Simple , Ratas , Ratas Long-Evans , Estrés Psicológico/genética , Estrés Psicológico/fisiopatología
18.
Rev. colomb. cardiol ; 24(6): 550-558, nov.-dic. 2017. tab, graf
Artículo en Español | LILACS, COLNAL | ID: biblio-900582

RESUMEN

Resumen Objetivos: evaluar la utilidad del strain sistólico pico longitudinal bidimensional para detectar enfermedad coronaria significativa en pacientes con diagnóstico de infarto agudo del miocardio sin elevación del ST y su capacidad para identificar la arteria responsable del evento agudo. Métodos: estudio observacional descriptivo y transversal realizado entre marzo y noviembre de 2015 en pacientes con diagnóstico clínico de infarto agudo del miocardio sin elevación del ST, a quienes se les evaluó el strain sistólico pico longitudinal bidimensional del ventrículo izquierdo, previo a la angiografía coronaria. Resultados: se evaluó el strain longitudinal en 28 pacientes que cumplieron con los criterios de selección. Por análisis de curvas ROC, se identificó un punto de corte para el strain global ≥ -18,8% con sensibilidad del 85% y especificidad del 75% para reconocer presencia de enfermedad coronaria angiográficamente significativa. Un punto de corte ≥ -17,8% de strain global, identificó lesiones significativas con especificidad del 100%. Para el análisis segmentario se estableció un punto de corte de ≥ 3 segmentos con strain ≥ -14%, encontrando una sensibilidad de 90% y una especificidad 87,5% para diagnóstico de enfermedad coronaria significativa. Conclusiones: la técnica ecocardiográfica evaluada, aplicada a pacientes con diagnóstico clínico de infarto del miocardio sin elevación del ST, mostró su utilidad para identificar enfermedad coronaria significativa, pero no permitió hallar el vaso culpable del evento agudo.


Abstract Objectives: To evaluate the usefulness of two-dimensional longitudinal peak systolic strain to detect significant coronary disease in patients with a diagnosis of acute myocardial infarction without ST elevation, and its ability to identify the artery responsible for the coronary event. Methods: A descriptive, observational, and cross-sectional study was conducted between March and November 2015 on patients with a clinical diagnosis of acute myocardial infarction without ST elevation, and on whom the two-dimensional longitudinal peak systolic strain of the left ventricle was evaluated prior to coronary angiography. Results: The longitudinal strain was evaluated in 28 patients who fulfilled selection criteria. For the ROC curve analysis, a cut-off point of ≥ -18.8% for the overall strain was identified, with a sensitivity of 85% and a specificity of 75% to recognise the presence of angiographically significant coronary disease. A cut-off point of ≥ -17.8% of overall strain identified significant lesions, with a specificity of 100%. For the segmental analysis, a cut-off point of ≥ 3 segments with a strain ≥ -14% was established, finding a sensitivity of 90% and a specificity of 87.5% for the diagnosis of significant coronary disease. Conclusions: The evaluated echocardiographic technique, when applied to patients with a clinical diagnosis of myocardial infarction without ST elevation, was shown to be useful in identifying significant coronary disease, but was unable to find the vessel responsible for the acute event.


Asunto(s)
Humanos , Técnicas de Imagen Cardíaca , Síndrome Coronario Agudo , Vasos Coronarios , Ecocardiografía , Contracción Miocárdica
19.
Arch Gynecol Obstet ; 296(5): 915-922, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28884414

RESUMEN

PURPOSE: Continuous epidural infusion and programmed intermittent epidural boluses are analgesic techniques routinely used for pain relief in laboring women. We aimed to assess both techniques and compare them with respect to labor analgesia and obstetric outcomes. METHODS: After Institutional Review Board approval, 132 laboring women aged between 18 and 45 years were randomized to epidural analgesia of 10 mL of a mixture of 0.1% bupivacaine plus 2 µg/mL of fentanyl either by programmed intermittent boluses or continuous infusion (66 per group). Primary outcome was quality of analgesia. Secondary outcomes were duration of labor, total drug dose used, maternal satisfaction, sensory level, motor block level, presence of unilateral motor block, hemodynamics, side effects, mode of delivery, and newborn outcome. RESULTS: Patients in the programmed intermittent epidural boluses group received statistically less drug dose than those with continuous epidural infusion (24.9 vs 34.4 mL bupivacaine; P = 0.01). There was no difference between groups regarding pain control, characteristics of block, hemodynamics, side effects, and Apgar scores. CONCLUSIONS: Our study evidenced a lower anesthetic consumption in the programmed intermittent boluses group with similar labor analgesic control, and obstetric and newborn outcomes in both groups.


Asunto(s)
Analgesia Epidural/métodos , Analgesia Obstétrica/métodos , Analgesia Controlada por el Paciente/métodos , Anestesia Epidural/métodos , Bupivacaína/administración & dosificación , Fentanilo/administración & dosificación , Dolor de Parto/tratamiento farmacológico , Trabajo de Parto/fisiología , Adolescente , Adulto , Analgesia Epidural/efectos adversos , Analgesia Obstétrica/efectos adversos , Analgesia Controlada por el Paciente/efectos adversos , Bupivacaína/efectos adversos , Esquema de Medicación , Femenino , Fentanilo/efectos adversos , Humanos , Recién Nacido , Bombas de Infusión , Infusiones Parenterales , Trabajo de Parto/efectos de los fármacos , Persona de Mediana Edad , Manejo del Dolor , Embarazo , Resultado del Tratamiento
20.
Cogn Dev ; 42: 62-73, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28827895

RESUMEN

There is variation in the extent to which childhood adverse experience affects adult individual differences in maternal behavior. Genetic variation in the animal foraging gene, which encodes a cGMP-dependent protein kinase, contributes to variation in the responses of adult fruit flies, Drosophila melanogaster, to early life adversity and is also known to play a role in maternal behavior in social insects. Here we investigate genetic variation in the human foraging gene (PRKG1) as a predictor of individual differences in the effects of early adversity on maternal behavior in two cohorts. We show that the PRKG1 genetic polymorphism rs2043556 associates with maternal sensitivity towards their infants. We also show that rs2043556 moderates the association between self-reported childhood adversity of the mother and her later maternal sensitivity. Mothers with the TT allele of rs2043556 appeared buffered from the effects of early adversity, whereas mothers with the presence of a C allele were not. Our study used the Toronto Longitudinal Cohort (N=288 mother-16 month old infant pairs) and the Maternal Adversity and Vulnerability and Neurodevelopment Cohort (N=281 mother-18 month old infant pairs). Our findings expand the literature on the contributions of both genetics and gene-environment interactions to maternal sensitivity, a salient feature of the early environment relevant for child neurodevelopment.

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