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1.
J Environ Manage ; 356: 120638, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38518496

RESUMEN

Microorganisms drive the degradation of organic matter thanks to their enzymatic versatility. However, the structure of lignocellulose poses a great challenge for the microbiota inhabiting a compost pile. Our purpose was to increase the biodegradability of vegetable waste in the early stages of the composting process by applying a microbial consortium with lignocelllulolytic capacity. For this, a previous screening was performed among the culturable microbiota from different composting processes to find inoculants with ligninocellulolytic activity. Selected strains were applied as a pure culture and as a microbial consortium. The starting material was composed of tomato plant and pruning remains mixed in a ratio (50:50 v/v), whose humidity was adjusted to around 65%. To determine the ability of both treatments to activate the biodegradation of the mixtures, moisture, organic matter, ash, C/N ratio, 4-day cumulative respirometric index (AT4) and degradation rates of cellulose, hemicellulose and lignin were evaluated. Subsequently, a real composting process was developed in which the performance of the microbial consortium was compared with the composting process without inoculum (control). According to our tests, three microbial strains (Bacillus safensis, Bacillus licheniformis and Fusarium oxysporum) were selected. The results showed that the application of the bacteria strains at low doses (104 CFU g-1 on the complete residual material of the pile) resulted in higher rates of lignocelullose degradation after 10 days of treatment compared to that observed after application of the fungus in pure culture or untreated controls. The implementation of the strategy described in this work resulted in obtaining compost with better agronomic quality than the uninoculated controls. Therefore, the application of this consortium could be considered as an interesting tool for bioactivation of lignocellulosic waste prior to the composting process.


Asunto(s)
Compostaje , Lignina , Lignina/metabolismo , Celulosa , Bacterias/metabolismo , Suelo
2.
J Environ Manage ; 319: 115647, 2022 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-35803069

RESUMEN

Olive mill wastewater (OMW) resulting from the olive oil extraction process is usually disposed of in evaporation ponds where it concentrates generating a sludge that pollutes the ponds nearby area. In this study, four bio-treatments were applied for the in-situ bioremediation and valorization of OMW sludge: Landfarming, phytoremediation, composting and vermicomposting. In all cases, the OMW sludge was added with organic residues (mushroom compost, rabbit manure, and chicken manure). The bio-treatments were carried out in duplicate, inoculated and non-inoculated, to determine the effect of a specialized fungal consortium (Aspergillus ochraceus H2 and Scedosporium apiospermum H16) on the efficacy of the bio-treatments. The evaluation of chemical parameters, toxicity, and functional microbial biodiversity revealed that the four techniques depleted the toxicity and favored the stimulation of functional microbiota. Landfarming and phytoremediation allowed the decontamination and improvement of soils. Composting and vermicomposting also offered high-quality products of agronomic interest. Inoculation improved the bioremediation effectiveness. Biological treatments are effective for the safe recovery of contaminated OMW sludge into high-quality services and products.


Asunto(s)
Olea , Aguas del Alcantarillado , Animales , Residuos Industriales/análisis , Estiércol , Olea/química , Aceite de Oliva , Estanques , Conejos , Aguas del Alcantarillado/microbiología , Eliminación de Residuos Líquidos/métodos , Aguas Residuales
3.
Exp Eye Res ; 196: 108066, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32439395

RESUMEN

In this work, we have analyzed the main clinical and corneal histological parameters that may be associated to the spherical equivalent (SE), age and gender of individuals with myopic refractive errors. For this purpose, 108 cornea stroma lenticules were obtained from patients subjected to ReLEx-SMILE myopia correction. Histological analyses were carried out and histochemistry and immunohistochemistry were used to quantify key histological components of the cornea stroma, including mature collagen fibers, reticular and elastic fibers, glycoproteins, proteoglycans, type-V collagen and several crystallins. Clinical and histological data were analyzed to determine their association with SE, age and gender. Results showed a significant correlation between the age range of the patients and the expression of crystallins CRY-α-A, CRY-λ1 and type-V collagen and between CRY-λ1 and corneal thickness, spherical diopters (D) and SE, although correlation between CRY-λ1 and SE was non-significant when age was controlled. Comparison of cases with low myopia and high/moderate myopia found statistical differences for D and lenticule thickness and diameter. The binary logistic regression analysis allowed us to construct a model using two clinical parameters (D and lenticule thickness). Parameters showing significant correlation with the age were the corneal radius, keratometry reading (K), OZ, CRY-α-A and type-V collagen, whereas SE, lenticule thickness, OZ, CRY-λ1 and type-V collagen showed statistically significant differences between the youngest and the oldest patients. A binary logistic regression analysis model was generated including 3 variables (D, cornea radius and OZ). No gender differences were found. The specific clinical and histological modifications found to be associated to the SE and age could be useful for a better understanding of the mechanisms involved in the genesis or progression of myopia and could establish the basement for future therapeutic options.


Asunto(s)
Biomarcadores/metabolismo , Sustancia Propia/metabolismo , Cirugía Laser de Córnea , Proteínas del Ojo/metabolismo , Miopía/metabolismo , Colgajos Quirúrgicos/patología , Adolescente , Adulto , Envejecimiento/fisiología , Colágeno/metabolismo , Sustancia Propia/patología , Femenino , Glicoproteínas/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Miopía/cirugía , Estudios Prospectivos , Proteoglicanos/metabolismo , Factores Sexuales , Adulto Joven
4.
Int J Mol Sci ; 21(9)2020 Apr 30.
Artículo en Inglés | MEDLINE | ID: mdl-32366037

RESUMEN

Leigh syndrome (LS) is the most frequent infantile mitochondrial disorder (MD) and is characterized by neurodegeneration and astrogliosis in the basal ganglia or the brain stem. At present, there is no cure or treatment for this disease, partly due to scarcity of LS models. Current models generally fail to recapitulate important traits of the disease. Therefore, there is an urgent need to develop new human in vitro models. Establishment of induced pluripotent stem cells (iPSCs) followed by differentiation into neurons is a powerful tool to obtain an in vitro model for LS. Here, we describe the generation and characterization of iPSCs, neural stem cells (NSCs) and iPSC-derived neurons harboring the mtDNA mutation m.13513G>A in heteroplasmy. We have performed mitochondrial characterization, analysis of electrophysiological properties and calcium imaging of LS neurons. Here, we show a clearly compromised oxidative phosphorylation (OXPHOS) function in LS patient neurons. This is also the first report of electrophysiological studies performed on iPSC-derived neurons harboring an mtDNA mutation, which revealed that, in spite of having identical electrical properties, diseased neurons manifested mitochondrial dysfunction together with a diminished calcium buffering capacity. This could lead to an overload of cytoplasmic calcium concentration and the consequent cell death observed in patients. Importantly, our results highlight the importance of calcium homeostasis in LS pathology.


Asunto(s)
Calcio/metabolismo , Células Madre Pluripotentes Inducidas/citología , Células Madre Pluripotentes Inducidas/metabolismo , Enfermedad de Leigh/metabolismo , Consumo de Oxígeno/fisiología , Western Blotting , Proliferación Celular/fisiología , Células Cultivadas , Electrofisiología , Técnica del Anticuerpo Fluorescente , Humanos , Ácido Láctico/metabolismo , Enfermedad de Leigh/patología , Mitocondrias/metabolismo , Células-Madre Neurales/citología , Células-Madre Neurales/metabolismo , Neuronas/citología , Neuronas/metabolismo , Consumo de Oxígeno/genética
5.
Luminescence ; 34(5): 460-464, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30652409

RESUMEN

Consumption of herbal teas, infusions and other plant-related products has always been popular due to the related health benefits. However, the safety of these products needs to be assessed, for example monitoring the potential presence of contaminants such as pesticides. In this paper, we report an analytical method for determining three neonicotinoid insecticides - thiacloprid, thiamethoxam, and imidacloprid - that are widely used worldwide. This method is based on quenching by analytes of the luminescence signal of terbium ions. Terbium presents a time-resolved luminescence signal at 256/545 nm/nm, which is quenched by the presence of low concentrations of the selected analytes. Detection limits of 0.1, 0.2 or 0.75 µg ml-1 were obtained for thiamethoxam, thiacloprid and imidacloprid, respectively. Recovery experiments in different teas (green tea, black tea, chamomile, peppermint) were performed at concentrations lower than the maximum residue limits established by the European Union and the Codex Alimentarius for tea samples. In all cases, satisfactory recovery yields were observed, and the results were compared with a chromatographic reference method. The proposed method therefore proved suitable for quantifying these insecticides, fulfilling the current legislation.


Asunto(s)
Insecticidas/análisis , Mediciones Luminiscentes/métodos , Neonicotinoides/análisis , Nitrocompuestos/análisis , Té/química , Terbio/química , Tiametoxam/análisis , Tiazinas/análisis , Contaminación de Alimentos/análisis , Luminiscencia , Sensibilidad y Especificidad
6.
Int J Mol Sci ; 20(24)2019 Dec 13.
Artículo en Inglés | MEDLINE | ID: mdl-31847153

RESUMEN

The implementation of induced pluripotent stem cells (iPSCs) in biomedical research more than a decade ago, resulted in a huge leap forward in the highly promising area of personalized medicine. Nowadays, we are even closer to the patient than ever. To date, there are multiple examples of iPSCs applications in clinical trials and drug screening. However, there are still many obstacles to overcome. In this review, we will focus our attention on the advantages of implementing induced pluripotent stem cells technology into the clinics but also commenting on all the current drawbacks that could hinder this promising path towards the patient.


Asunto(s)
Diferenciación Celular , Células Madre Pluripotentes Inducidas/trasplante , Medicina de Precisión/tendencias , Humanos , Medicina de Precisión/métodos
7.
Trop Anim Health Prod ; 51(7): 1943-1952, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31004270

RESUMEN

This trial evaluated the individual and interactional effects of diet and type of pregnancy (twin or single) on plasma metabolic response in ewes and their lambs from late pre-partum to late post-partum. Thus, a flock of 18 Ile de France breed sheep, consisting of 8 twin-bearing and 10 single-bearing ewes, were allocated to one of two groups according to their diet, either based on ad libitum naturalized pasture hay (NPH) or red clover hay (RCH), from d 45 pre-partum to d 60 post-partum. Plasma samples were collected at different times to determine albumin, cholesterol, total protein and urea, plus glucose and ß-hydroxybutyrate (BHB) concentration in ewes. The data was processed using the lme4 package for R, and SPSS Statistics 23.0 for Windows. The results showed that both diet and type of pregnancy influenced the metabolic profile in ewes, showing an inverse relationship between single- and twin-bearing ewes regarding glucose and especially BHB proportions from pre-partum to birth. During post-partum, higher urea concentrations were observed in twin- and single-bearing ewes fed RCH in contrast to those fed NPH, as a result of the higher-quality forage offered to ewes. Regarding lambs, the diet and type of pregnancy influenced the total protein and urea levels, where an inverse relationship at birth and early post-partum between albumin and cholesterol vs. total protein and urea was detected, reflecting a trend (P value between 0.06 and 0.07) to a better performance by groups of single lambs, especially those from single-bearing ewes fed RCH. Finally, under the conditions of this study, the maternal diet and type of pregnancy influenced the plasma metabolic response in ewes and their lambs, affecting the lamb performance especially at birth.


Asunto(s)
Alimentación Animal/análisis , Dieta/veterinaria , Fenómenos Fisiologicos Nutricionales Maternos , Preñez , Embarazo Múltiple , Ovinos/sangre , Animales , Femenino , Humanos , Embarazo , Ovinos/fisiología
9.
Phys Rev Lett ; 121(14): 142701, 2018 Oct 05.
Artículo en Inglés | MEDLINE | ID: mdl-30339438

RESUMEN

The ^{12}C(α,γ)^{16}O reaction plays a central role in astrophysics, but its cross section at energies relevant for astrophysical applications is only poorly constrained by laboratory data. The reduced α width, γ_{11}, of the bound 1^{-} level in ^{16}O is particularly important to determine the cross section. The magnitude of γ_{11} is determined via sub-Coulomb α-transfer reactions or the ß-delayed α decay of ^{16}N, but the latter approach is presently hampered by the lack of sufficiently precise data on the ß-decay branching ratios. Here we report improved branching ratios for the bound 1^{-} level [b_{ß,11}=(5.02±0.10)×10^{-2}] and for ß-delayed α emission [b_{ßα}=(1.59±0.06)×10^{-5}]. Our value for b_{ßα} is 33% larger than previously held, leading to a substantial increase in γ_{11}. Our revised value for γ_{11} is in good agreement with the value obtained in α-transfer studies and the weighted average of the two gives a robust and precise determination of γ_{11}, which provides significantly improved constraints on the ^{12}C(α,γ) cross section in the energy range relevant to hydrostatic He burning.

10.
Scand J Rheumatol ; 46(1): 17-21, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27095187

RESUMEN

OBJECTIVES: To evaluate the association between learned helplessness (LH) and self-efficacy (SE) with disease activity, functional capacity, and level of pain in patients with rheumatoid arthritis (RA) and to compare LH and SE between patients in remission and patients with active disease. METHOD: This multicentre, cross-sectional study included consecutive patients (aged ≥ 18 years) with RA according to 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) criteria. LH was measured by the Rheumatology Attitude Index (RAI), Spanish version; SE with the Arthritis Self-efficacy Scale (ASES), Spanish version; functional capacity with the Health Assessment Questionnaire, Argentinian version (HAQ-A); and perceived pain by the visual analogue scale (VAS). Disease activity was measured by the Clinical Disease Activity Index (CDAI). RESULTS: A total of 115 patients (82% females) with a mean (± sd) age of 58 ± 13 years were included. We found a significantly positive correlation between LH and perceived pain (p < 0.001), HAQ-A score (p < 0.001), and CDAI (p < 0.001) and a significantly negative correlation between SE and perceived pain (p < 0.001), HAQ-A score (p < 0.001), and CDAI (p < 0.001). We found greater levels of SE and lower grades of LH in patients in remission compared to those with active disease (median 76 vs. 58; p < 0.001 and 6 vs. 11; p < 0.001, respectively). CONCLUSIONS: LH and SE correlated significantly with disease activity, functional capacity, and perceived pain. Levels of SE were higher in patients in remission compared to those with active disease as opposed to levels of LH, which were lower in patients in remission compared to those with active disease. These results show that cognitive factors are related to disease activity and their modifications may have importance in the management of RA.


Asunto(s)
Artritis Reumatoide/psicología , Desamparo Adquirido , Percepción del Dolor , Autoeficacia , Anciano , Argentina , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad
11.
Biochim Biophys Acta ; 1848(1 Pt A): 76-82, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25268679

RESUMEN

Resveratrol (RV) is a potent antioxidant, anticancer and anti-inflammatory agent. Its main target of action is the cell membrane; however, its effect on that of human erythrocytes has been scarcely investigated. With the aim to better understand the molecular mechanisms of the interaction of RV with cell membranes both human erythrocytes and molecular models of its membrane have been utilized. The latter consisted in bilayers of dimyristoylphosphatidylcholine (DMPC) and dimyristoylphosphatidylethanolamine (DMPE), representative of phospholipid classes located in the outer and inner monolayers of the erythrocyte membrane, respectively. Results by X-ray diffraction showed that RV produced a significant structural perturbation on DMPC bilayers, but no effects were observed in DMPE. Scanning electron (SEM) and defocusing microscopy (DM) observations showed that RV induced morphological alterations to the red cells from the normal discoid shape to echinocytes. These results imply that RV was located in the outer monolayer of the erythrocyte membrane. Results of its antioxidant properties showed that RV neutralized the oxidative capacity of HClO on DMPC and DMPE bilayers. On the other hand, SEM and DM observations as well as hemolysis assays demonstrated the protective effect of RV against the deleterious effects of HClO upon human erythrocytes.


Asunto(s)
Eritrocitos/efectos de los fármacos , Hemólisis/efectos de los fármacos , Estrés Oxidativo/efectos de los fármacos , Estilbenos/farmacología , Antioxidantes/química , Antioxidantes/metabolismo , Antioxidantes/farmacología , Dimiristoilfosfatidilcolina/química , Dimiristoilfosfatidilcolina/metabolismo , Relación Dosis-Respuesta a Droga , Membrana Eritrocítica/química , Membrana Eritrocítica/metabolismo , Eritrocitos/metabolismo , Eritrocitos/ultraestructura , Humanos , Ácido Hipocloroso/farmacología , Membrana Dobles de Lípidos/química , Membrana Dobles de Lípidos/metabolismo , Microscopía/métodos , Microscopía Electrónica de Rastreo , Estructura Molecular , Oxidantes/farmacología , Fosfatidiletanolaminas/química , Fosfatidiletanolaminas/metabolismo , Sustancias Protectoras/química , Sustancias Protectoras/metabolismo , Sustancias Protectoras/farmacología , Resveratrol , Estilbenos/química , Estilbenos/metabolismo , Difracción de Rayos X
12.
Biochim Biophys Acta ; 1848(11 Pt A): 2829-38, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26299817

RESUMEN

Usnic acid (UA) has been associated with chronic diseases through its antioxidant action. Its main target is the cell membrane; however, its effect on that of human erythrocytes has been scarcely investigated. To gain insight into the molecular mechanisms of the interaction between UA and cell membranes human erythrocytes and molecular models of its membrane have been utilized. Dimyristoylphosphatidylcholine (DMPC) and dimyristoylphosphatidylethanolamine (DMPE) were chosen as representative of phospholipid classes located in the outer and inner monolayers of the erythrocyte membrane, respectively. Results by X-ray diffraction showed that UA produced structural perturbations on DMPC and DMPE bilayers. DSC studies have indicated that thermotropic behavior of DMPE was most strongly distorted by UA than DMPC, whereas the latter is mainly affected on the pretransition. Scanning electron (SEM) and defocusing microscopy (DM) showed that UA induced alterations to erythrocytes from the normal discoid shape to echinocytes. These results imply that UA molecules were located in the outer monolayer of the erythrocyte membrane. Results of its antioxidant properties showed that UA neutralized the oxidative capacity of HClO on DMPC and DMPE bilayers; SEM, DM and hemolysis assays demonstrated the protective effect of UA against the deleterious oxidant effects of HClO upon human erythrocytes.


Asunto(s)
Antioxidantes/farmacología , Benzofuranos/farmacología , Membrana Eritrocítica/efectos de los fármacos , Eritrocitos/efectos de los fármacos , Antioxidantes/química , Benzofuranos/química , Forma de la Célula/efectos de los fármacos , Células Cultivadas , Dimiristoilfosfatidilcolina/química , Relación Dosis-Respuesta a Droga , Membrana Eritrocítica/metabolismo , Membrana Eritrocítica/ultraestructura , Eritrocitos/metabolismo , Eritrocitos/ultraestructura , Hemólisis/efectos de los fármacos , Humanos , Ácido Hipocloroso/farmacología , Membrana Dobles de Lípidos/química , Microscopía/métodos , Microscopía Electrónica de Rastreo , Modelos Moleculares , Estructura Molecular , Fosfatidiletanolaminas/química , Difracción de Rayos X
13.
J Cell Physiol ; 231(11): 2317-8, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27018482

RESUMEN

Mitochondrial disorders, although individually are rare, taken together constitute a big group of diseases that share a defect in the oxidative phosphorylation system. Up to now, the development of therapies for these diseases is very slow and ineffective due in part to the lack of appropriate disease models. Therefore, there is an urgent need for the discovery of new therapeutic interventions. Regarding this, the generation of induced pluripotent stem cells (iPSCs) has opened new expectations in the regenerative medicine field. However, special cares and considerations must be taken into account previous to a replacement therapy. J. Cell. Physiol. 231: 2317-2318, 2016. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Células Madre Pluripotentes Inducidas/trasplante , Enfermedades Mitocondriales/terapia , Variaciones en el Número de Copia de ADN/genética , Humanos , Enfermedades Mitocondriales/genética , Mutación/genética , Polimorfismo de Nucleótido Simple/genética
14.
Artículo en Inglés | MEDLINE | ID: mdl-26424608

RESUMEN

A study was undertaken to evaluate dietary glutamine supplementation effects on gilthead sea bream performance, intestinal nutrient absorption capacity, hepatic and intestinal glutamine metabolism and oxidative status. For that purpose gilthead sea bream juveniles (mean weight 13.0g) were fed four isolipidic (18% lipid) and isonitrogenous (43% protein) diets supplemented with 0, 0.5, 1 and 2% glutamine for 6weeks. Fish performance, body composition and intestinal nutrient absorption capacity were not affected by dietary glutamine levels. Hepatic and intestinal glutaminase (GlNase), glutamine synthetase (GSase), alanine aminotransferase, aspartate aminotransferase and glutamate dehydrogenase activities were also unaffected by dietary glutamine supplementation. In the intestine GlNase activity was higher and GSase/GlNase ratio was two-fold lower than in the liver, suggesting a higher use of glutamine for energy production by the intestine than by the liver. The liver showed higher catalase and glucose-6-phosphate dehydrogenase activities, while the intestine presented higher glutathione peroxidase and glutathione reductase activities and oxidised glutathione content, which seems to reveal a higher glutathione dependency of the intestinal antioxidant response. Total and reduced glutathione contents in liver and intestine and superoxide dismutase activity in the intestine were enhanced by dietary glutamine, though lipid peroxidation values were not affected. Overall, differences between liver and intestine glutamine metabolism and antioxidant response were identified and the potential of dietary glutamine supplementation to gilthead sea bream's antioxidant response was elucidated.


Asunto(s)
Aminoácidos/metabolismo , Antioxidantes/farmacología , Suplementos Dietéticos , Alimentos , Glutamina/farmacología , Absorción Intestinal/efectos de los fármacos , Dorada/metabolismo , Animales , Arginina/metabolismo , Dieta , Glucosa/metabolismo , Glutamina/metabolismo , Glutatión/metabolismo , Intestinos/efectos de los fármacos , Intestinos/enzimología , Peroxidación de Lípido/efectos de los fármacos , Hígado/efectos de los fármacos , Hígado/metabolismo , Estrés Oxidativo/efectos de los fármacos , Dorada/crecimiento & desarrollo
15.
Breast Cancer Res Treat ; 149(2): 385-94, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25528024

RESUMEN

Recently, we observed that telomeres of BRCA1/2 mutation carriers were shorter than those of controls or sporadic breast cancer patients, suggesting that mutations in these genes might be responsible for this event. Given the contradictory results reported in the literature, we tested whether other parameters, such as chemotherapy, could be modifying telomere length (TL). We performed a cross-sectional study measuring leukocyte TL of 266 sporadic breasts cancer patients treated with first-line chemotherapy, with a median follow-up of 240 days. Additionally, we performed both cross-sectional and longitudinal studies in a series of 236 familial breast cancer patients that included affected and non-affected BRCA1/2 mutation carriers. We have measured in leukocytes from peripheral blood: the TL, percentage of short telomeres (<3 kb), telomerase activity levels and the annual telomere shortening speed. In sporadic cases we found that chemotherapy exerts a transient telomere shortening effect (around 2 years) that varies depending on the drug combination. In familial cases, only patients receiving treatment were associated with telomere shortening but they recovered normal TL after a period of 2 years. Chemotherapy affects TL and should be considered in the studies that correlate TL with disease susceptibility.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/genética , Telómero/genética , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/tratamiento farmacológico , Estudios de Casos y Controles , Estudios Transversales , Femenino , Genes BRCA1 , Genes BRCA2 , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Mutación , Factores de Riesgo , Telómero/metabolismo , Acortamiento del Telómero , Adulto Joven
16.
Clin Chem Lab Med ; 53(9): 1333-8, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25460287

RESUMEN

BACKGROUND: Quantitative-fluorescent polymerase chain reaction (QF-PCR) is a reliable, rapid, and economic technique for prenatal diagnosis of the most common abnormalities. However, conventional karyotyping is expensive and requires a much longer time to yield results. It is currently under debate whether the replacement or restriction of karyotyping reduces the quality of prenatal test results. This study was undertaken to determine the percentage of clinically significant chromosomal abnormalities that would not be detected if QF-PCR was the main analysis method and karyotyping reserved for cases with increased nuchal translucency (NT) and/or abnormal ultrasound findings and to estimate the difference in cost between QF-PCR and full karyotyping. METHODS: Nine hundred twenty-eight pregnant women underwent an invasive procedure at our center between May 2009 and December 2012, yielding 580 (62.5%) chorionic villous samples and 348 (37.5%) amniotic fluid samples. Samples were studied by both QF-PCR and full karyotyping. Karyotyping and detailed ultrasound findings were retrospectively analyzed. RESULTS: If QF-PCR was the main analytic method and full karyotyping reserved for cases with elevated NT (≥4.5) and/or abnormal ultrasound findings, 12.7% of the patients would have required full karyotyping, 99% of the clinically significant chromosomal abnormalities would have been detected, and the cost would have been 54% lower than a policy of full karyotyping for all. CONCLUSIONS: Detailed prenatal ultrasound scan can reduce the need for conventional karyotyping as a complement to QF-PCR in most prenatal samples, offering rapid results and reducing parental anxiety and healthcare costs.


Asunto(s)
Aneuploidia , Cariotipificación , Diagnóstico Prenatal/métodos , Adolescente , Adulto , Femenino , Humanos , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Embarazo , España , Adulto Joven
17.
Ann Appl Biol ; 167(3): 387-405, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26924847

RESUMEN

Evaluation of crop N status will assist optimal N management of intensive vegetable production. Simple procedures for monitoring crop N status such as petiole sap [NO 3--N], leaf N content and soil solution [NO 3-] were evaluated with indeterminate tomato and muskmelon. Their sensitivity to assess crop N status throughout each crop was evaluated using linear regression analysis against nitrogen nutrition index (NNI) and crop N content. NNI is the ratio between the actual and the critical crop N contents (critical N content is the minimum N content necessary to achieve maximum growth), and is an established indicator of crop N status. Nutrient solutions with four different N concentrations (treatments N1-N4) were applied throughout each crop. Average applied N concentrations were 1, 5, 13 and 22 mmol L-1 in tomato, and 2, 7, 13 and 21 mmol L-1 in muskmelon. Respective rates of N were 23, 147, 421 and 672 kg N ha-1 in tomato, and 28, 124, 245 and 380 kg N ha-1 in muskmelon. For each N treatment in each crop, petiole sap [NO 3--N] was relatively constant throughout the crop. During both crops, there were very significant (P < 0.001) linear relationships between both petiole sap [NO 3--N] and leaf N content with NNI and with crop N content. In indeterminate tomato, petiole sap [NO 3--N] was very strongly linearly related to NNI (R2 = 0.88-0.95, P < 0.001) with very similar slope and intercept values on all dates. Very similar relationships were obtained from published data of processing tomato. A single linear regression (R2 = 0.77, P < 0.001) described the relationship between sap [NO 3--N] and NNI for both indeterminate and processing tomato, each grown under very different conditions. A single sap [NO 3--N] sufficiency value of 1050 mg N L-1 was subsequently derived for optimal crop N nutrition (at NNI = 1) of tomato grown under different conditions. In muskmelon, petiole sap [NO 3--N] was strongly linearly related to NNI (R2 = 0.75 - 0.88, P < 0.001) with very similar slope and intercept values for much of the crop (44-72 DAT, days after transplanting). A single linear relationship between sap [NO 3--N] and NNI (R2 = 0.77, P < 0.001) was derived for this period, but sap sufficiency values could not be derived for muskmelon as NNI values were >1. Relationships between petiole sap [NO 3--N] with crop N content, and leaf N content with both NNI and crop N content had variable slopes and intercept values during the indeterminate tomato and the muskmelon crops. Soil solution [NO 3-] in the root zone was not a sensitive indicator of crop N status. Of the three systems examined for monitoring crop/soil N status, petiole sap [NO 3--N] is suggested to be the most useful because of its sensitivity to crop N status and because it can be rapidly analysed on the farm.

18.
Nat Genet ; 38(11): 1261-8, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17013393

RESUMEN

Common mitochondrial DNA (mtDNA) haplotypes in humans and mice have been associated with various phenotypes, including learning performance and disease penetrance. Notably, no influence of mtDNA haplotype in cell respiration has been demonstrated. Here, using cell lines carrying four different common mouse mtDNA haplotypes in an identical nuclear background, we show that the similar level of respiration among the cell lines is only apparent and is a consequence of compensatory mechanisms triggered by different production of reactive oxygen species. We observe that the respiration capacity per molecule of mtDNA in cells with the NIH3T3 or NZB mtDNA is lower than in those with the C57BL/6J, CBA/J or BALB/cJ mtDNA. In addition, we have determined the genetic element underlying these differences. Our data provide insight into the molecular basis of the complex phenotypes associated with common mtDNA variants and anticipate a relevant contribution of mtDNA single nucleotide polymorphisms to phenotypic variability in humans.


Asunto(s)
ADN Mitocondrial/análisis , Variación Genética , Fenotipo , Especies Reactivas de Oxígeno/metabolismo , Adaptación Biológica , Animales , Proliferación Celular/efectos de los fármacos , Células Cultivadas , Ciclo del Ácido Cítrico , Cruzamientos Genéticos , Embrión de Mamíferos , Galactosa/farmacología , Haplotipos , Peróxido de Hidrógeno/metabolismo , Masculino , Ratones , Ratones Endogámicos BALB C , Ratones Endogámicos C3H , Ratones Endogámicos C57BL , Ratones Endogámicos CBA , Mitocondrias/efectos de los fármacos , Mitocondrias/enzimología , Mitocondrias/genética , Células 3T3 NIH , Polimorfismo Genético , Especies Reactivas de Oxígeno/farmacología , Transducción de Señal
19.
PLoS Genet ; 7(4): e1001379, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21533077

RESUMEN

About half of the mitochondrial DNA (mtDNA) mutations causing diseases in humans occur in tRNA genes. Particularly intriguing are those pathogenic tRNA mutations than can reach homoplasmy and yet show very different penetrance among patients. These mutations are scarce and, in addition to their obvious interest for understanding human pathology, they can be excellent experimental examples to model evolution and fixation of mitochondrial tRNA mutations. To date, the only source of this type of mutations is human patients. We report here the generation and characterization of the first mitochondrial tRNA pathological mutation in mouse cells, an m.3739G>A transition in the mitochondrial mt-Ti gene. This mutation recapitulates the molecular hallmarks of a disease-causing mutation described in humans, an m.4290T>C transition affecting also the human mt-Ti gene. We could determine that the pathogenic molecular mechanism, induced by both the mouse and the human mutations, is a high frequency of abnormal folding of the tRNA(Ile) that cannot be charged with isoleucine. We demonstrate that the cells harboring the mouse or human mutant tRNA have exacerbated mitochondrial biogenesis triggered by an increase in mitochondrial ROS production as a compensatory response. We propose that both the nature of the pathogenic mechanism combined with the existence of a compensatory mechanism can explain the penetrance pattern of this mutation. This particular behavior can allow a scenario for the evolution of mitochondrial tRNAs in which the fixation of two alleles that are individually deleterious can proceed in two steps and not require the simultaneous mutation of both.


Asunto(s)
Epistasis Genética , Evolución Molecular , Mitocondrias/genética , ARN de Transferencia de Isoleucina/genética , ARN/genética , Alelos , Animales , Línea Celular , Clonación Molecular , Humanos , Ratones , Ratones Endogámicos BALB C , Mitocondrias/metabolismo , Mutación , Fosforilación Oxidativa , Pliegue de Proteína , ARN Mitocondrial , ARN de Transferencia de Isoleucina/metabolismo , Especies Reactivas de Oxígeno/metabolismo
20.
Neurologia ; 29(4): 218-23, 2014 May.
Artículo en Inglés, Español | MEDLINE | ID: mdl-24090496

RESUMEN

INTRODUCTION: Freezing of gait (FOG) is one of the most disabling and enigmatic symptoms in Parkinson's disease. Vascular lesions, observed in magnetic resonance imaging (MRI) scans, may produce or exacerbate this symptom. PATIENTS AND METHODS: The study includes 22 patients with Parkinson's disease subjects, 12 with freezing of gait and 10 without. All patients underwent an MRI scan and any vascular lesions were analysed using the modified Fazekas scale. RESULTS: Patients with FOG scored higher on the modified Fazekas scale than the rest of the group. Although the two groups contained the same percentage of patients with vascular lesions (50% in both groups), lesion load was higher in the group of patients with FOG. Vascular lesions in the periventricular area and deep white matter seem to be the most involved in the development of FOG. DISCUSSION: Vascular lesions may contribute to the onset or worsening of FOG in patients with PD. This study suggests that cerebral vascular disease should be considered in patients with FOG.


Asunto(s)
Trastornos Cerebrovasculares/patología , Trastornos Neurológicos de la Marcha/patología , Enfermedad de Parkinson/patología , Anciano , Anciano de 80 o más Años , Femenino , Trastornos Neurológicos de la Marcha/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones
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