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1.
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.

2.
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
4.
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
5.
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
6.
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
7.
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
8.
J Photochem Photobiol B ; 183: 64-74, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29689488

RESUMEN

Photodynamic therapy has emerged as an alternative treatment for cutaneous leishmaniasis, and compounds with photocatalytic behavior are promising candidates to develop new therapeutic strategies for the treatment of this parasitic disease. Titanium dioxide TiO2 is a semiconductor ceramic material that shows excellent photocatalytic and antimicrobial activity under Ultraviolet irradiation. Due to the harmful effects of UV radiation, many efforts have been made in order to enhance both photocatalytic and antimicrobial properties of TiO2 in the visible region of the spectrum by doping or through modifications in the route of synthesis. Herein, Fe-, Zn-, or Pt- doped TiO2 nanostructures were synthesized by solution-combustion route. The obtained compounds presented aggregates of 100 nm, formed by particles smaller than 20 nm. Doping compounds shift the absorption spectrum towards the visible region, allowing production of reactive oxygen species in the presence of oxygen and molecular water when the system is irradiated in the visible spectrum. The Pt (EC50 = 18.2 ±â€¯0.8 µg/mL) and Zn (EC50 = 16.4 ±â€¯0.3 µg/mL) -doped TiO2 presented the higher antileishmanial activities under visible irradiation and their application as photosensitizers in photodynamic therapy (PDT) strategies for the treatment of cutaneous leishmaniasis should be considered.


Asunto(s)
Leishmania/efectos de los fármacos , Nanopartículas del Metal/toxicidad , Fármacos Fotosensibilizantes/farmacología , Titanio/química , Rayos Ultravioleta , Animales , Antracenos , Supervivencia Celular/efectos de los fármacos , Supervivencia Celular/efectos de la radiación , Daño del ADN/efectos de los fármacos , Daño del ADN/efectos de la radiación , Hierro/química , Leishmania/metabolismo , Leishmania/efectos de la radiación , Leishmaniasis/tratamiento farmacológico , Leishmaniasis/parasitología , Macrófagos Peritoneales/citología , Macrófagos Peritoneales/efectos de los fármacos , Macrófagos Peritoneales/metabolismo , Macrófagos Peritoneales/efectos de la radiación , Nanopartículas del Metal/química , Nanopartículas del Metal/uso terapéutico , Ratones , Microscopía Electrónica de Transmisión , Perileno/análogos & derivados , Perileno/química , Perileno/farmacología , Perileno/uso terapéutico , Fotoquimioterapia , Fármacos Fotosensibilizantes/química , Fármacos Fotosensibilizantes/uso terapéutico , Especies Reactivas de Oxígeno/metabolismo , Espectrometría de Fluorescencia , Difracción de Rayos X , Zinc/química
9.
Theriogenology ; 87: 124-134, 2017 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-27641677

RESUMEN

Embryo splitting has been used for the production of identical twins and to increase the pregnancy rate per available embryo. Split blastocysts can develop to term; however, little is known about the impact on gene expression of split embryos, especially at the whole transcriptome level. This work was aimed to evaluate the effect of blastocyst splitting on global gene expression profile at the elongation stage. For that, split and time-matched nonsplit (control group) bovine blastocysts were transferred to a bovine recipient and recovered at Day 17 of development. The number of collected embryos, their size, and global gene expression was compared between both groups. From 16 transferred split embryos, six (37.5%) were collected, whereas nine elongated were recovered from 17 nonsplit (52.9%). Neither the recovery rate nor the average length of the elongated embryos was significantly different between both groups. However more than 50% of embryos from the control group had a length surpassing 100 mm, whereas only 33% of the split embryos reached that size. Global gene expression was performed in individual elongated embryos from both groups using Two-Color Microarray-Based Gene Expression Analysis. From detected genes, 383 (1.31%) were differentially expressed between both groups, among them, 185 (0.63%) were downregulated and 198 (0.67%) genes were upregulated in split embryos. Bioinformatic analysis of differentially expressed genes revealed that embryo splitting affects transcriptomes of resulting elongated embryos, mainly downregulating genes involved in matrix remodelation, control of growth, detoxification, and transport of metabolites. These in turns might have a detrimental impact on the developmental potential of produced embryos.


Asunto(s)
Blastocisto/citología , Bovinos/embriología , Regulación del Desarrollo de la Expresión Génica/fisiología , Transcriptoma/fisiología , Animales , Blastocisto/fisiología , Desarrollo Embrionario , Femenino , Fertilización In Vitro , Embarazo
10.
Guatem. pediátr. ; 1(2): 27-35, abr, 2015.
Artículo en Español | LILACS | ID: biblio-981158

RESUMEN

La desnutrición aguda es un problema grave de salud. Actualmente afecta a 52 millones de niños menores de cinco años con prevalencia de 8% a nivel mundial. el riesgo de muerte para niños con desnutrición aguda moderada y severa es de 3 y 9 veces más que los niños con un estado nutricional normal.


Asunto(s)
Preescolar , Desnutrición Aguda Severa , Hospitalización , Hospitales Públicos
11.
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
12.
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
13.
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
14.
Rev. chil. infectol ; Rev. chil. infectol;28(3): 248-254, jun. 2011. tab
Artículo en Español | LILACS | ID: lil-597595

RESUMEN

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 percent female) were studied. Sixteen (69.5 percent) were infected through vertical transmission, and 7 (30.5 percent) 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.


El tratamiento anti-retroviral marcó un cambio en la evolución de la infección por VIH, planteándose nuevos retos que mejoren la calidad de vida en las edades pediátricas. Objetivos: Identificar aspectos psicosociales en niño y adolescente que adquirieron la infección por VIH, evaluar el desarrollo neuropsicológico y describir la co-morbilidad psiquiátrica presente en el grupo estudiado. Pacientes y Métodos: Se realizó un estudio descriptivo, donde se evaluó el desempeño neurocognitivo de pacientes atendidos en la clínica pediátrica del Instituto de Medicina Tropical Pedro Kourí de La Habana, Cuba, entre los meses de febrero y julio de 2008, para lo cual se realizaron entrevistas a familiares, examen directo del participante y la aplicación de instrumentos específicos para cada edad. Resultados: Se evaluaron 23 niños y adolescentes entre los 3 y 17 años, predominó el sexo femenino con 13 (56,5 por ciento) y las edades entre los 6-11 años con 10 (43,5 por ciento) niños, más del 50 por ciento de los cuales se encontraban en los primeros años de escolarización, 16 (69,5 por ciento) infectados por trasmisión vertical y 7 (30,5 por ciento) por otras vías. Los escolares infectados por vía vertical fueron los que mayor sintomatología aportaron, la hiperactividad (57,1 por ciento), la ansiedad (42,8 por ciento) y las dificultades en el aprendizaje (14,2 por ciento), fueron los síntomas más frecuentes. El diagnóstico de trastorno hipercinético (13,0 por ciento) fue el más importante en la etapa escolar, mientras que el trastorno de adaptación depresivo lo fue en la adolescencia (8,6 por ciento). Conclusión: El estudio permitió la caracterización neuropsicológica de los niños y adolescentes estudiados, teniendo en cuenta las vías de adquisición de la infección, el momento evolutivo de la enfermedad y describir la co-morbilidad psiquiátrica asociada.


Asunto(s)
Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Trastornos de la Conducta Infantil/psicología , Infecciones por VIH/psicología , Trastornos Mentales/psicología , Comorbilidad , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/epidemiología , Cuba/epidemiología , Trastornos Mentales/diagnóstico , Trastornos Mentales/epidemiología , Pruebas Neuropsicológicas , Calidad de Vida
15.
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
16.
Clin Transplant ; 22(1): 16-9, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18217900

RESUMEN

Hepatitis C virus (HCV) infection is highly prevalent in renal transplant candidates; however, its effect on the transplant outcome is still controversial. The aim of the present study was to determine the effect of HCV infection in the outcome of kidney transplantation in a single transplant center. The study population 144 HCV- randomized selected patients and 64 HCV+ patients transplanted from 1973 to 2000, followed for up to 60 months post-transplantation. This retrospective study included the following variables: type of dialysis, time on renal replacement therapy, number of transfusions before and after transplantation, number of transplants, type of donor, immunosuppression, and rejection episodes. The Kaplan-Meier method was used to estimate graft and patient survival. Log-rank test was used to assess the difference in survival between HCV+ and HCV-. A multivariate Cox proportional hazards model was used to analyze the relation between graft and patient survival. HCV+ and HCV- patients had similar demographic and clinical characteristics; however, a higher number of HCV+ patients received blood transfusions after transplantation. Patient survival was not significantly different in 39 HCV+ and 96 HCV- patients transplanted with living-related donors (71% and 77% at five yr, respectively). Similarly, there was not significant difference in 25 HCV+ and 48 HCV- patients transplanted with kidneys from deceased donors, although there was a tendency to better outcome in HCV- patients (55% and 72% at five yr respectively). Regarding graft survival, there was also no differences in HCV+ and HCV- recipients of living-related grafts (61% and 66% at five yr post-transplant, respectively) and recipients of kidneys from deceased donors (44% and 41%, respectively). The results show that HCV+ patients can be transplanted with the same success than HCV- patients.


Asunto(s)
Supervivencia de Injerto , Hepatitis C/epidemiología , Enfermedades Renales/epidemiología , Trasplante de Riñón/inmunología , Adolescente , Adulto , Antiinflamatorios/administración & dosificación , Transfusión Sanguínea/estadística & datos numéricos , Niño , Preescolar , Comorbilidad , Ciclosporina/administración & dosificación , Femenino , Humanos , Inmunosupresores/administración & dosificación , Enfermedades Renales/cirugía , Cirrosis Hepática/epidemiología , Masculino , Metilprednisolona/administración & dosificación , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Resultado del Tratamiento
17.
Vet Parasitol ; 150(1-2): 39-45, 2007 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-17931783

RESUMEN

The aim of this study was to investigate the participation of Neospora caninum and Toxoplasma gondii in abortion cases of Peruvian llamas and alpacas. Fifteen aborted foetuses were recovered from two main rearing areas of camelids in Peru (Central or South Andean region). Foetal histopathology was used to detect the presence of protozoal-associated lesions in target organs. N. caninum and T. gondii infections were confirmed by immunohistochemistry (IHC) combined with PCR and by PCR alone, respectively. The influence of the species (llama and alpaca), foetal age (first, second and third gestational periods) and geographical location (Central or South Andean region) of the foetuses was also studied. Thirteen of the samples (26%, 13/50) showed lesions suggestive of protozoal infection. N. caninum infection was detected by either IHC or specific PCR in 14 out of 50 foetuses (28%), of which 8 also showed protozoal-associated lesions. T. gondii DNA was not detected in any of the foetuses analysed. Protozoal infection was more frequent in the foetuses from the second gestational period (P<0.05, Fisher F-test). No significant association was observed between protozoal infection and species or geographical location (P>0.05, chi2 test). The results of the present study indicate that neosporosis should be included during the differential diagnosis of abortion in llamas and alpacas.


Asunto(s)
Feto Abortado/parasitología , Camélidos del Nuevo Mundo/parasitología , Coccidiosis/veterinaria , Neospora , Toxoplasma , Toxoplasmosis Animal/parasitología , Animales , Coccidiosis/parasitología , Femenino , Edad Gestacional , Inmunohistoquímica , Masculino , Perú , Reacción en Cadena de la Polimerasa , Embarazo , Complicaciones Parasitarias del Embarazo/veterinaria
18.
Theor Appl Genet ; 114(6): 1051-8, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17394033

RESUMEN

Major gene inheritance of resistance to Potato leafroll virus (PLRV) was demonstrated in a parthenogenic population derived from the highly resistant tetraploid andigena landrace, LOP-868. This major gene or chromosome region seems to control a single mechanism for resistance to infection and virus accumulation in this source. About 149 dihaploid lines segregated in a ratio of 107 resistant to 32 susceptible, fitting the expected ratio for inheritance of a duplex gene under random chromatid segregation. A tetraploid AFLP map was constructed using as reference the ultra high density (UHD) map. All AFLP markers associated with PLRV resistance mapped to the same linkage group. Map position was confirmed by analysis of previously-mapped SSR markers. Rl (adg) is located on the upper arm of chromosome V, at 1 cM from its most closely linked AFLP marker, E35M48.192. This marker will be used to develop allele-specific primers or a pair of flanking PCR-based markers for their use in marker assisted selection.


Asunto(s)
Mapeo Cromosómico , Genes de Plantas , Inmunidad Innata/genética , Luteovirus/patogenicidad , Solanum tuberosum/genética , Solanum tuberosum/virología , Cromosomas de las Plantas , ADN de Plantas/genética , ADN de Plantas/aislamiento & purificación , Ligamiento Genético , Marcadores Genéticos , Técnicas de Amplificación de Ácido Nucleico , Partenogénesis , Enfermedades de las Plantas/genética , Enfermedades de las Plantas/virología , Polimorfismo Genético , Solanum tuberosum/clasificación , Solanum tuberosum/inmunología
19.
Diabetes Res Clin Pract ; 72(2): 170-5, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16325957

RESUMEN

We underwent a project aimed to define the clinical and immunological characteristics of type 1 diabetes (T1D) in a Colombian population. This was a multicenter and cross-sectional study. Patients were systematically interviewed and their medical records reviewed, using a questionnaire that sought information about demographic, clinical and immunological characteristics. Glutamic acid decarboxylase antibodies (GADA), tyrosine phosphatase antibodies (IA-2A) and insulin antibodies (IAA) were examined by radioimmunoassay. There were 107 patients with T1D. Male:female ratio was 1:1. Half of the patients developed diabetes ketoacidosis at onset. GADA, IA-2A, and IAA were detected in 45%, 40%, and 69% of the cases, respectively. GADA positive patients were older and had a less duration of disease than patients without these autoantibodies (p<0.01). Association between breast feeding with the presence of antibodies or clinical characteristics was not observed. The results highlight some differences of T1D expression according to geographic location and ethnicity. Differences in age at onset and clinical variables may point to an environmental factor or deficient access to health care system. Genetic studies underway will provide important information in this population. These results might help to define public health policies in our population to improve T1D diagnosis, patients' quality of life and their outcome.


Asunto(s)
Autoanticuerpos/sangre , Diabetes Mellitus Tipo 1/inmunología , Glutamato Descarboxilasa/inmunología , Anticuerpos Insulínicos/sangre , Proteínas Tirosina Fosfatasas/inmunología , Adulto , Edad de Inicio , Colombia , Estudios Transversales , Diabetes Mellitus Tipo 1/complicaciones , Cetoacidosis Diabética/etiología , Femenino , Humanos , Masculino , Proteína Tirosina Fosfatasa no Receptora Tipo 1
20.
Rev. biol. trop ; Rev. biol. trop;53(supl.3): 329-336, dic. 2005. tab
Artículo en Español | LILACS | ID: lil-454833

RESUMEN

Fertilized eggs from an spontaneously spawn of thirty sexually mature sea urchins (Arbacia punctulata) were incubated to complete embryonic development. The echinopluteus larvae (3 ind/ml) were distributed into 50 plastic containers (25 containers at 30 psu and 25 containers at 40 psu) and fed on Tetraselmis chuii, Nannochloropsis oculata, Isochrysis galbana, Chaetoceros gracilis and C. calcitrans under a natural photoperiod. The water of the containers was partially renewed (75%) everyday. Larval anatomic development aspects, daily survival and growth were determined. The growth was determined through postoral arms and body length measurement, and body diameter of twelve larvae during metamorphosis. During the planktonic larval phase, only the I. galbana diet produced similar results for both salinities. The relative growth of larvae was isometric (I) for larvae fed on I. galbana at two salinities and positive allometric for those fed on C. gracilis and C. calcitrans at both salinities. In this study A. punctulata started metamorphosis at day 14 and was completed 30 days after fecundation. Significant differences were detected in post-settlement body growth between the two salinities (F = 23.58, p < 0.05): growth was better for larvae at 30 psu (final body diameter was 3.14 +/- 0.44 mm). The final rate of planktonic larvae was highest with I. galbana (58.33%). For juveniles the rate was 6.48% for those fed on C. gracilis (40 psu in both larvae and juveniles). We recommend the use of this diet and 40 psu for survival or 30 psu for growth.


Asunto(s)
Animales , Femenino , Alimentación Animal , Eucariontes , Óvulo/efectos de los fármacos , Erizos de Mar/crecimiento & desarrollo , Cloruro de Sodio/farmacología , Acuicultura , Células Cultivadas , Larva/efectos de los fármacos , Larva/crecimiento & desarrollo , Óvulo/crecimiento & desarrollo , Tasa de Supervivencia
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