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1.
Environ Geochem Health ; 45(7): 4275-4293, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36729229

RESUMEN

Pollution represents a high risk to plants, animals, and human beings, causing an imbalance and affecting the environment. Soil is considered a universal sink, containing the highest load of environmental pollution. Puchuncaví-Ventanas sector, decreed as a saturated contamination zone in 1993, is considered one of the most affected areas by industrial pollution and belongs to one of the 5 sacrifice zones of Chile. The localities of Puchuncaví and Ventanas have heavy metal pollution levels that exceed up to 99% of the limits allowed by Canadian standards. The objective of this study was to characterize heavy metal tolerance and removal potential of filamentous fungi isolated from polluted soils for their use in decontamination systems and in situ soil improvement. Six fungal strains were selected based on their tolerance and a high capability to accumulate heavy metals, achieving copper bioaccumulation of 84% (Mortierella sp. strain LG01), 49% (Clonostachys sp. strain CQ23) and 48-77.5% (Trichoderma sp. strain LM01A). Trichoderma sp. strain LM01A was able to remove 41% of copper from contaminated soil under ex situ conditions. Some fungal strains belong to beneficial fungal genera, which are used as bioproducts in agriculture. The results of this study highlighted the use of Trichoderma sp. in soils contaminated, which may be of special interest in agriculture due to the large amounts of copper sulfate still applied as a pesticide in Chile and the world.


Asunto(s)
Metales Pesados , Contaminantes del Suelo , Humanos , Cobre/análisis , Chile , Canadá , Metales Pesados/toxicidad , Metales Pesados/análisis , Hongos , Contaminación Ambiental , Suelo , Contaminantes del Suelo/toxicidad , Contaminantes del Suelo/análisis
2.
Zygote ; 27(6): 398-404, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31576792

RESUMEN

Quality of in vitro-produced embryos is influenced by changes in gene expression in response to adverse conditions. Gene markers for predicting 'good embryos' do not exist at present. We propose that the expression of pluripotency markers OCT4-SOX2-NANOG in D9 (day 9) bovine demi-embryos correlated with development at D13 (day 13). Day 8 in vitro-produced blastocysts were split in two cloned halves, one half (D9) was subjected to analysis of pluripotency markers and the other was kept in culture until D13 of development. Embryo development was scored and correlated with its own status at D9 and assigned to one of two categories: G1, arrested/dead; or G2, development up to D13. SOX2 and NANOG expression levels were significantly higher in embryos from G1 and there was also negative correlation between SOX2 and embryo survival to D13 (G3; r = -0.37; P = 0.03). We observed a significant reduction in the expression of the three studied genes from D9 to D13. Furthermore, there was a correlation between the expression of pluripotency markers at D9 and embryo diameter and the expression of trophoblastic markers at D13 (TP1-EOMES-FGF4-CDX2-TKDP1). Finally, the quotient between the relative expression of SOX2 and OCT4 in the D9 blastocysts from G1 and G2 showed that embryos that were considered as competent (G2) had a quotient close to one, while the other group had a quotient of 2.3 due to a higher expression of SOX2. These results might indicate that overexpression of SOX2 at the blastocyst stage had a negative effect on the control of embryonic developmental potential.


Asunto(s)
Blastocisto/metabolismo , Técnicas de Cultivo de Embriones/métodos , Embrión de Mamíferos/metabolismo , Desarrollo Embrionario/genética , Regulación del Desarrollo de la Expresión Génica , Factores de Transcripción SOXB1/genética , Animales , Blastocisto/citología , Bovinos , Embrión de Mamíferos/citología , Embrión de Mamíferos/embriología , Femenino , Factores de Tiempo
3.
J Appl Microbiol ; 125(3): 753-765, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29791769

RESUMEN

AIMS: To isolate micro-organisms associated with marine coastal sediments of Colombian Caribbean Sea and for evaluating its antimicrobial activity in order to identify the most active strains. METHODS AND RESULTS: One hundred and four strains were isolated from sediment samples of the Colombian Caribbean Sea. First at all, an antimicrobial activity screening was made using agar well diffusion method against the pathogens: Escherichia coli, Staphylococcus aureus, Klebsiella pneumoniae, Candida albicans, Candida tropicalis and Pseudomonas aeruginosa. Seventeen strains showed strong antimicrobial activity and were identified as members of the Streptomyces, Micrococcus and Bacillus genera. Organic extracts were produced by liquid-liquid extraction and HPLC profiles of the most active extracts were obtained. Then, the antimicrobial activity of the extracts was evaluated with the broth microdilution test, finding antimicrobial activities superior to 90% against S. aureus MRSA and C. albicans. HPLC profiles indicated the presence of different antimicrobial compounds. CONCLUSION: This study demonstrates that the microorganisms isolated from the Colombian Caribbean Sea are possible sources of antimicrobial compounds against pathogenic strains. SIGNIFICANCE AND IMPACT OF STUDY: These results contribute to the knowledge of the biotechnological potential of the Colombian biodiversity for the development of pharmaceutical products that can counteract the increasing problem of pathogen resistance.


Asunto(s)
Antiinfecciosos , Bacterias , Bioprospección , Sedimentos Geológicos/microbiología , Antiinfecciosos/aislamiento & purificación , Antiinfecciosos/farmacología , Bacterias/química , Bacterias/efectos de los fármacos , Bacterias/aislamiento & purificación , Candida/efectos de los fármacos , Región del Caribe , Colombia , Pruebas de Sensibilidad Microbiana , Océanos y Mares , Microbiología del Agua
4.
J Dairy Sci ; 101(2): 1464-1477, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29248217

RESUMEN

The effect of polyethylene hutches wrapped in aluminized reflective covers (ARC) on health and performance of pre-weaned Holstein heifers during summer was evaluated. Ambient and hutch temperature and temperature-humidity index (THI) were also assessed. The study was conducted from June to October 2016 where temperature, humidity, and THI ranged from -1.3 to 38.4°C, 9.8 to 99.7%, and 33.6 to 81.1 units, respectively. Heifers enrolled at 1 d of life and housed in individual polyethylene hutches with (covered) or without (control) ARC were monitored until 60 d of life in 2 study groups (SG1, n = 94, monitored from June to September; and SG2, n = 101, monitored from August to October 2016). Calves were assessed twice per week for health status, behavior, rectal temperature, and respiratory rate. Similarly, hutch inner wall and sand bedding temperatures were determined for comparison between covered and control hutches housing calves. Four empty hutches per treatment group were continuously monitored for temperature and THI. The odds (95% confidence interval) of presenting diarrhea were 1.30 (1.01-1.60) times greater for calves housed in covered hutches than for those in the control group. Similarly, the odds of an abnormal ear score were 1.40 (1.03-2.00) times greater for calves in covered hutches compared with calves in control hutches. The odds of nasal discharge, eye discharge, and clinical dehydration did not differ between treatment groups. Rectal temperatures and respiratory rates were also similar in both groups. No differences were found in average daily gain between calves housed in covered and control hutches. Calf location determined at a fixed time during the day (starting at 1200 h) was associated with the use of ARC. The odds of remaining inside the hutch were 1.33 (1.03-1.70) times greater for calves housed in control compared with covered hutches. Overall, the average of hutch interior temperature was higher in covered compared with control hutches in both studies (SG1, 23.2 ± 0.06 vs. 22.8 ± 0.06°C; SG2, 17.1 ± 0.07 vs. 16.9 ± 0.07°C). Hutch THI was higher in covered empty hutches compared with control hutches in both study groups (SG1: 68.6 ± 0.06 vs. 67.6 ± 0.06°C; SG2: 60.2 ± 0.08 vs. 59.6 ± 0.08°C). Average temperature (measured at 1200 h) of the inner surface of the hutch wall was lower in covered compared with control hutches by 1°C (24.4 ± 0.13 vs. 25.4 ± 0.13°C), whereas the temperature of the sand bedding did not differ between groups. Our results suggest that the use of ARC did not generate a hutch microclimate that resulted in significant improvements on health and performance of pre-weaned dairy calves under these specific study settings.


Asunto(s)
Bovinos/crecimiento & desarrollo , Vivienda para Animales , Humedad , Temperatura , Animales , Femenino , Pisos y Cubiertas de Piso , Estaciones del Año , Destete
5.
J Dairy Sci ; 101(7): 5890-5901, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29680654

RESUMEN

Feed intake assessment is a valuable tool for herd management decisions. The use of markers, either internal or external, is currently the most used technique for estimating feed intake in production animals. The experiment used 10 multiparous Holstein cows fed a corn silage-based diet, with 55:45 forage-to-concentrate ratio, the average fecal recovery (FR) of TiO2 was higher than FR of Cr2O3, and both FR were more than unity. With internal markers, acetyl bromide lignin and cutin FR were lower than unity, and average FR for indigestible neutral detergent fiber (iNDF) and indigestible acid detergent fiber (iADF) was 1.5. The FR was unaffected by the fecal sampling procedure and appears to be an intrinsic property of each molecule and how it interacts with digesta. Of the 2 external markers, only Cr2O3 produced accurate fecal output (FO) estimates and the same happened to dry matter digestibility (DMD) when iNDF and iADF were used. Estimates for DMD and FO were affected by sampling procedure; 72-h bulk [sub-sample from total feces collection (TFC)] sampling consistently produced accurate results. The grab (sub-samples taken at specific times during the day) sampling procedures were accurate when using either of the indigestible fibers (iNDF or iADF) to estimate DMD. However, grab sampling procedures can only be recommended when concomitant TFC is performed on at least one animal per treatment to determine FR. Under these conditions, Cr2O3 is a suitable marker for estimating FO, and iNDF and iADF are adequate for estimating DMD. Moreover, the Cr2O3+iADF marker pair produces accurate dry matter intake estimates and deserves further attention in ruminant nutrition studies. The method of dosing the external markers is extremely important and greatly affects and determines results. Whichever the method, it must allow the animals to display normal feeding behavior and not affect performance. The grab sampling procedures can replace TFC (once FR is established), which may open new possibilities for pasture-based or collectively housed animals.


Asunto(s)
Alimentación Animal , Biomarcadores/análisis , Bovinos/metabolismo , Heces/química , Zea mays , Animales , Dieta , Fibras de la Dieta/administración & dosificación , Digestión , Femenino , Lactancia , Rumen , Ensilaje
7.
Clin Genet ; 88(4): 371-5, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25256238

RESUMEN

The prevalence of BRCA1 and BRCA2 mutations among breast cancer patients in Peru has not yet been explored. We enrolled 266 women with breast cancer from a National cancer hospital in Lima, Peru, unselected for age or family history. DNA was screened with a panel of 114 recurrent Hispanic BRCA mutations (HISPANEL). Among the 266 cases, 13 deleterious mutations were identified (11 in BRCA1 and 2 in BRCA2), representing 5% of the total. The average age of breast cancer in the mutation-positive cases was 44 years. BRCA1 185delAG represented 7 of 11 mutations in BRCA1. Other mutations detected in BRCA1 included: two 2080delA, one 943ins10, and one 3878delTA. The BRCA2 3036del4 mutation was seen in two patients. Given the relatively low cost of the HISPANEL test, one should consider offering this test to all Peruvian women with breast or ovarian cancer.


Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad/epidemiología , Mutación , Adulto , Anciano , Análisis Mutacional de ADN , Femenino , Humanos , Persona de Mediana Edad , Perú/epidemiología
8.
Genet Couns ; 25(3): 289-97, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25365851

RESUMEN

The 9p trisomy is a relatively frequent disorder, while pure 9p trisomies are less frequent and usually derived from 9;22 translocations, duplications or 9p extra chromosomes. Here we report a patient with pure trisomy 9p derived from a terminal balanced unreciprocal translocation. The patient derived to the genetic service by psychomotor delay, presented at 2 years and 11 months: short stature, open anterior fontanelle, dysplastic ears, facial dysmorphisms, long and broad first toes with hypoplastic nails, central nervous system and skeletal alterations. The patient karyotype was: 46,XY,der(10)t(9;10) (p13.1;qter)mat while the mother karyotype was: 46,XX,t(9;10)(p13.1;qter). The presence of the subtelomeric region of 10q showed by FISH as well as the duplication of 9p subtelomere was further confirmed with multiplex ligation dependent probe amplification (MLPA) for the subtelomeric region of all chromosomes. The mechanism of formation seems to be due to a telomere break in 10q leading to loss of telomeric functions, permitting the 9p fusion; this has been supported with molecular probes showing telomere shortening in interstitial telomeric repeats, which are unable to prevent chromosome fusion. This is one of the few cases reported with terminal translocations (not jumping) preserving the subtelomeric region and highlights the importance of subtelomeric probes in terminal arrangements, and the utility of molecular probes, such as MLPA in defining this kind of abnormalities. In the clinical context, the patient presented a high proportion of 9p trisomy features which is expected considering the large 9p segment involved and the presence of the critical region 9p22.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Cromosomas Humanos Par 22/genética , Cromosomas Humanos Par 9/genética , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Translocación Genética/genética , Trisomía/diagnóstico , Trisomía/genética , Preescolar , Duplicación Cromosómica/genética , Anomalías Craneofaciales/diagnóstico , Discapacidades del Desarrollo/diagnóstico , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Síndrome , Telómero/genética
9.
Rehabilitacion (Madr) ; 58(4): 100859, 2024 Jun 20.
Artículo en Español | MEDLINE | ID: mdl-38905956

RESUMEN

INTRODUCTION AND OBJECTIVE: Patients with congenital diaphragmatic hernia (CDH) can have up to 40 times more frequency of muskuloskeletal deformities and decreased perception of physical activity tan their pairs. The objective of this study is to evaluate the safety and efficacy of an individualized exercise program in late adolescents and young adults with repaired CDH, as well as a description of their basal status. MATERIAL AND METHODS: Non randomized prospective trial of 13 patients with repaired CDH between 1997-2005. An initial physical exploration and a pre-post assessment of bioimpedance (BIA), dynamometry, maximal inspiratory and expiratory pressure (MIP/MEP), 6-minute walk test (6MWT), physical activity level (IPAQ) and quality of life (QoL) was made. The training program last for 4 weeks. For the statistical analysis, the Student's t test for paired samples and Wilcoxon test were used. RESULTS: 77% (n=10) were male with a mean age of 19.23±2.13 years. In baseline BIA, 62% (n=8) had truncal sarcopenia that improved in -0.43±0.58, and P=.016. MIP, MEP, 6MWT and QoL tests increased by -7.27±8.26 cmH2O, P=.008; -11.91±10.20 cmH2O, P=.002; -70.63±17.88 m, P=.001; -42,19±26.79, P=.00 respectively. The IPAQ did not change significantly (P=0.86), however the time dedicated to muscle strengthening increased. No adverse effects were reported. CONCLUSIONS: A personalized rehabilitation program is safe and could improve the respiratory muscle strength and truncal sarcopenia as well as the submaximal effort capacity in late adolescents and young adults with repaired CDH.

10.
Sci Total Environ ; 922: 171212, 2024 Apr 20.
Artículo en Inglés | MEDLINE | ID: mdl-38428605

RESUMEN

Within the framework of the recent approval of the National Plan Against Radon by the Council of Ministers of the Spanish Government, one of its five axes focuses on the delimitation of priority action areas. In line with this objective, this paper presents the indoor radon risk maps of the Canary Islands. Due to the volcanic origin of the Canary Islands, there is a great deal of geological heterogeneity in the soils on which buildings settle, making it very difficult to delimit radon-risk areas in the process of creating maps. Following a methodology developed in previous works for a study area formed of a set of representative municipalities, this paper presents radon risk maps of the Canary Islands based on lithostratigraphic information and high-resolution terrestrial gamma radiation maps. The goodness of fit of these maps is verified based on a statistical analysis of indoor radon concentration measurements carried out at representative building enclosures. In order to analyse the level of risk to the population, these maps were combined with built up areas (urban fabric) maps and estimations of the annual effective doses due to radon was obtained by applying a dosimetric model. This methodology improves the capability to delimit indoor radon risk areas, with a greater margin of safety. In this respect, it is estimated that areas classified as low risk have indoor radon concentrations 41 % below the current reference level of 300 Bq/m3 established by national regulations in compliance with the precepts laid down in the European EURATOM Directive.

11.
Cytogenet Genome Res ; 141(1): 58-63, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23735430

RESUMEN

We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22, and X (64 autosomes and 40 X chromosomes). In the whole series, mean paternal and maternal ages in cases of paternal (proved or possible; n=29) or maternal (proved or possible; n=36) descent were 31.14 and 28.31 years, respectively. Rearranged X chromosomes appeared to be of paternal descent and to arise through intrachromosomal non-allelic homologous recombination (NAHR), whereas rec-like autosomes were of either maternal or paternal origin and resulted from mechanisms proper of non-recurrent rearrangements. Except for some mosaic cases, most rearranged chromosomes apparently had a meiotic origin. Except for 8 rearranged X chromosomes transmitted maternally, all other cases compiled here were sporadic. Hence, the recurrence risk for sibs of propositi born to euploid parents is virtually zero, regardless of the imbalance's size. In brief, recombinant-like or rea chromosomes are not related to advanced parental age, may (chromosome X) or may not (autosomes) have a parent-of-origin bias, arise in meiosis or postzygotically, and appear to be mediated by NAHR, nonhomologous end joining, and telomere transposition. Because rearranged chromosomes 10, 11, and Y are also on record, albeit just in abstracts or listed in large series, we remark that all chromosomes can undergo this distinct rearrangement, even if it is still to be described for pairs 12 and 19.


Asunto(s)
Deleción Cromosómica , Duplicación Cromosómica , Cromosomas Humanos/genética , Mutación , Adulto , Factores de Edad , Inestabilidad Cromosómica , Inversión Cromosómica , Femenino , Genética de Población/métodos , Humanos , Patrón de Herencia , Masculino , Meiosis , Prohibitinas , Recombinación Genética , Factores de Riesgo , Telómero/genética , Adulto Joven
12.
Phys Rev Lett ; 111(4): 042001, 2013 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-23931356

RESUMEN

Increasingly, with the data collected at the LHC we are confronted with the possible existence of flow in pp collisions. In this work, we show that PYTHIA 8 produces flowlike effects in events with multiple hard subcollisions due to color string formations between final partons from independent hard scatterings, the so-called color reconnection. We present studies of different identified hadron observables in pp collisions at 7 TeV. Studies have been done both for minimum bias and multiplicity intervals in events with and without color reconnection to isolate the flowlike effect.

13.
Artículo en Inglés | MEDLINE | ID: mdl-37673208

RESUMEN

Succinylcholine is the gold standard neuromuscular blocker for rapid sequence induction; however, its use is associated with fasciculation and myalgia. We performed a systematic review and meta-analysis of randomized controlled clinical trials comparing gabapentinoids versus placebo for the prevention of fasciculations and succinylcholine-induced myalgias. Six randomized clinical studies were included with a total of 481 patients - 241 in the intervention group and 240 in the placebo group. Gabapentinoids reduced the incidence of succinylcholine-induced myalgia (RR = 0.69, 95% CI 0.56-0.84, P < .001), which remained statistically significant for pregabalin (RR = 0.71, 95% CI 0.54-0.93, P = .013) and gabapentin (RR = 0.61, 95% CI 0.45-0.82, P = .001) separately. There was no difference in fasciculations between the groups (RR = 0.92, 95% CI 0.82-1.03, P = .148). Preoperative use of gabapentinoids is associated with lower incidence of succinylcholine-induced myalgias within the first 24 h of surgery.

14.
Sci Total Environ ; 885: 163761, 2023 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-37146802

RESUMEN

The transposition of the European EURATOM directive into the regulations of the different member states of the European Union involved governments making great efforts to define priority action maps against indoor radon exposure in buildings over a short time period. In Spain, the Technical Building Code established 300 Bq/m3 as a reference level and set up a classification of municipalities in which remediation measures should be adopted for radon exposure in buildings. Oceanic volcanic islands, such as the Canary Islands, present high geological heterogeneity in a small space due to their volcanic origin. This variability poses a challenge to the elaboration of radiological risk maps, which makes it necessary to have a high density of data to collect local variations. This paper presents a methodology to obtain accurate radon risk maps based on geological criteria and terrestrial gamma radiation. The predictive efficiency of these maps is statistically verified using indoor radon concentration data measured in buildings. Other radiological variables, which are commonly used as criteria for radon risk prediction found in the literature, were also applied, such as the geogenic radon potential and the activity concentration of natural radioisotopes in soils. The higher resolution of the maps obtained allows for a more detailed classification of radon risk zones in the study area than the current risk maps published in the Spanish building regulations.

15.
J Periodontal Res ; 47(5): 608-15, 2012 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-22494068

RESUMEN

BACKGROUND AND OBJECTIVE: The ideal instrument for initial periodontal therapy should enable the removal of all extraneous substances from the root surfaces without any iatrogenic effects. Because of that the objective of this study is to analyse and to compare the root surface roughness after using Gracey curettes, termination diamond burs (40 µm), a piezo-ceramic ultrasonic scaler and a piezosurgery ultrasonic scaler using confocal microscopy and scanning electron microscopy. MATERIAL AND METHODS: A 2 mm × 2 mm interproximal root area of 20 teeth (n = 40 surfaces) was evaluated by confocal microscopy (×20 magnification) and scanning electron microscopy (×50 to ×1000 magnification). Teeth were randomly assigned to the following four groups: Gracey curettes with 15 vertical strokes; termination diamond burs (40 µm) at 3000 r.p.m.; a piezo-ceramic ultrasonic scaler with a power of 11; and a piezosurgery ultrasonic scaler in mode ROOT with a power of two. RESULTS: Confocal microscopy revealed that curettes [mean changes in the value of surface roughness average reduced by 0.11 ± 0.3], piezo-ceramic ultrasonic scaler (roughness average reduced by 0.47 ± 0.93) and piezosurgery ultrasonic scaler (roughness average reduced by 0.62 ± 0.93) left a smoother surface than termination diamond burs (roughness average increased by 0.39 ± 0.18). Statistically significant differences were observed in roughness (p = 0.005) between piezosurgery and termination diamond burs (p = 0.005). No statistically significant differences were between piezosurgery and Gracey curettes (p = 0.140) and between piezosurgery and piezo-ceramic ultrasonic scalers (p = 0.745). Confocal microscopy and scanning electron microscopy showed that piezosurgery seems to leave the smoothest surface. Surfaces treated with termination burs appear to show more scratches and pits. CONCLUSION: Three of the four instruments tested for root planing reduced surface roughness; however, the piezosurgery ultrasonic scaler produced the smoothest surface. The termination diamond burs (40 µm) produced a rougher surface than the ultrasonic instruments and the hand curettes. Further clinical studies are needed.


Asunto(s)
Desbridamiento Periodontal/instrumentación , Raíz del Diente/ultraestructura , Cerámica/química , Legrado/instrumentación , Materiales Dentales/química , Raspado Dental/instrumentación , Diamante/química , Diseño de Equipo , Humanos , Procesamiento de Imagen Asistido por Computador/métodos , Imagenología Tridimensional/métodos , Ensayo de Materiales , Microscopía Confocal , Microscopía Electrónica de Rastreo , Piezocirugía/instrumentación , Aplanamiento de la Raíz/instrumentación , Método Simple Ciego
16.
Cytogenet Genome Res ; 132(4): 233-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21063078

RESUMEN

We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.


Asunto(s)
Cromosomas Humanos Par 5/genética , Hipotiroidismo/genética , Adulto , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Craneosinostosis/genética , Síndrome del Maullido del Gato/genética , Femenino , Trastornos del Crecimiento/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Discapacidad Intelectual/genética , Cariotipificación , Masculino , Trisomía/genética
17.
Rev Chilena Infectol ; 28(3): 248-54, 2011 Jun.
Artículo en Español | MEDLINE | ID: mdl-21879151

RESUMEN

UNLABELLED: Antiretroviral therapy has marked a change in the course of HIV infection, posing new challenges to improve quality of life in pediatric patients. OBJECTIVE: The goal of this paper was to identify psychosocial aspects of HIV-infected children and adolescents, and to evaluate their neuropsychological development and psychiatric co-morbidity. PATIENTS AND METHODS: A descriptive study was conducted, evaluating the neurocognitive performance of patients attending at the Pediatric Department of Instituto de Medicina Tropical Pedro Kourí of La Habana, Cuba, between February and July of 2008. For that purpose, interviews to the patients and their relatives were done with the application of appropriate tests for each age. RESULTS: Twenty-three patients ages 3-17 years (57% female) were studied. Sixteen (69.5%) were infected through vertical transmission, and 7 (30.5%) through other routes. School children infected through vertical transmission showed the most symptoms. Hyperactivity, anxiety, and learning disorders were the most frequently observed symptoms as well as hyperkinetic disorders, temporary tic disorders and mental retardation. CONCLUSION: This study shows the neuropsychological characterization of HIV-positive children and adolescents, considering the route of acquisition of the infection and the stage of the disease. It also describes psychiatric comorbidity of HIV-infected children.


Asunto(s)
Trastornos de la Conducta Infantil/psicología , Infecciones por VIH/psicología , Trastornos Mentales/psicología , Adolescente , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/epidemiología , Preescolar , Comorbilidad , Cuba/epidemiología , Femenino , Humanos , Masculino , Trastornos Mentales/diagnóstico , Trastornos Mentales/epidemiología , Pruebas Neuropsicológicas , Calidad de Vida
18.
Meat Sci ; 172: 108337, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33091722

RESUMEN

Within the insensitization by electronarcosis and the bleeding processes performed at the pig's slaughterhouses, there are some factors that hinder the achievement of an adequate slaughter of these animals, being this a critical phase in which animal welfare must be guaranteed; the objective of this study was to evaluate and compare the efficiency of insensitization by electronarcosis and two types of bleeding direction (horizontal and vertical). Dependent variables were measured as indicators of animal welfare (absence of the corneal reflex, absence of reflex of sensitivity to painful stimuli, attempts to reinstatement or posture recovery and vocalization), after the stunning and bleeding process, in four slaughterhouses of national category in "Eje Cafetero", Colombia. The methodological approach included the binomial distribution, descriptive statistics, hypothesis testing and statistical significance. The results show that the efficiency of the insensitization procedures and type of bleeding direction depends on multiple aspects, including the tranquility of the animals during their handling, the correct position of the insensitization clamps, the amperage used and the time between insensitization and bleeding. In this way, the analysis of possible preventive and/or corrective measures includes: Continuous training and supervision of the personnel in charge of carrying out the procedures, the need to immobilize pigs prior to their insensitization process, the continuous monitoring of process variables and the appropriate vascular cutting that ensures animal's death prior to their entrance into the scalding machine.


Asunto(s)
Mataderos , Bienestar del Animal/estadística & datos numéricos , Inconsciencia/veterinaria , Animales , Colombia , Estimulación Eléctrica/métodos , Hemorragia , Reflejo , Porcinos/fisiología
19.
Vet J ; 255: 105417, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31982084

RESUMEN

The objective of this study was to evaluate the efficacy of two non-antibiotic treatment options for digital dermatitis (DD) on an organic certified dairy farm. A randomized clinical trial was conducted using 70 multiparous Holstein cows with an early DD lesion at a USDA certified organic dairy farm in Northern Colorado, USA. Cows were enrolled in the study based on the presence of early DD lesions (scores M1 and M2) and randomly assigned to one of three treatments: (1) topical application of copper sulfate and iodine (CUI); (2) topical application of honey and iodine (HOI); and (3) control subject to no treatment (CON). Cows were evaluated at enrolment and on days 3, 12, 28, and 120 post treatment for pain and lesion size and received a locomotion and a lesion score. Cure was defined as the transition from active to non-active stages (M1/M2 to M0 or M4). The formulations had variable effects on the treatment of DD. The cure rate was numerically higher for CUI on all follow up days. The proportion of cows experiencing pain on d3 after treatment was greater in CON, followed by HOI and CUI. However, this proportion increased in HOI during the follow up period. The CUI group had a greater reduction in lesion size and larger lesions persisted in HOI. Non-antibiotic treatment formulations were partially effective in the treatment of DD in organic dairy cows: The two non-antibiotic formulations resulted in an earlier transition to mature lesions compared with the control group. The CUI combination was the most effective treatment in reducing lesion size, pain, and lameness in affected cows. However, this combination had short-term efficacy, which did not persist throughout the duration of the study. The HOI combination produced only transient reduction in lesion size.


Asunto(s)
Enfermedades de los Bovinos/tratamiento farmacológico , Sulfato de Cobre/uso terapéutico , Dermatitis Digital/tratamiento farmacológico , Miel , Yodo/uso terapéutico , Administración Tópica , Animales , Infecciones Bacterianas/tratamiento farmacológico , Infecciones Bacterianas/veterinaria , Bovinos , Colorado , Sulfato de Cobre/administración & dosificación , Industria Lechera , Femenino , Pezuñas y Garras/efectos de los fármacos , Yodo/administración & dosificación , Cojera Animal/tratamiento farmacológico , Agricultura Orgánica , Dolor , Resultado del Tratamiento
20.
Animal ; 13(1): 221-230, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29785891

RESUMEN

Climate change is producing an increase on extreme weather events around the world such as flooding, drought and extreme ambient temperatures impacting animal production and animal welfare. At present, there is a lack of studies addressing the effects of climatic conditions associated with energy intake in finishing cattle in South American feed yards. Therefore, two experiments were conducted to assess the effects of environmental variables and level of metabolizable energy intake above maintenance requirements (MEI) on performance and carcass quality of steers. In each experiment (winter and summer), steers were fed with 1.85 or 2.72 times of their requirements of metabolizable energy of maintenance. A total of 24 crossbred steers per experiment were used and located in four pens (26.25 m2/head) equipped with a Calan Broadbent Feeding System. Animals were fed with the same diet within each season, varying the amount offered to adjust the MEI treatments. Mud depth, mud scores, tympanic temperature (TT), environmental variables, average daily gain, respiration rates and carcass characteristics plus three thermal comfort indices were collected. Data analysis considered a factorial arrangement (Season and MEI). In addition, a repeated measures analysis was performed for TT and respiration rate. Mean values of ambient temperature, solar radiation and comfort thermal indices were greater in the summer experiment as expected (P<0.005). The mean values of TT were higher in steers fed with higher MEI and also in the summer season. The average daily gain was greater during summer v. winter (1.10±0.11 v. 0.36±0.06) kg/day, also when steers were fed 2.72 v. 1.85 MEI level (0.89±0.12 v. 0.57±0.10) kg/day. In summer, respiration rate increased in 41.2% in the afternoon. In winter, muddy conditions increased with time of feeding, whereas wind speed and rainfall had significant effects on TT and average daily gain. We conclude that MEI and environmental variables have direct effects on the physiology and performance of steers, including TT and average daily gain, particularly during the winter. In addition, carcass characteristics were affected by season but not by the level of MEI. Finally, due to the high variability of data as well as the small number of animals assessed in these experiments, more studies on carcass characteristics under similar conditions are required.


Asunto(s)
Alimentación Animal/análisis , Bovinos/fisiología , Ingestión de Energía/fisiología , Fenómenos Fisiológicos Nutricionales de los Animales , Animales , Bovinos/crecimiento & desarrollo , Chile , Cambio Climático , Dieta/veterinaria , Masculino , Estaciones del Año
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