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1.
Curr Genomics ; 13(3): 179-95, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-23115520

RESUMEN

Plant breeding has been very successful in developing improved varieties using conventional tools and methodologies. Nowadays, the availability of genomic tools and resources is leading to a new revolution of plant breeding, as they facilitate the study of the genotype and its relationship with the phenotype, in particular for complex traits. Next Generation Sequencing (NGS) technologies are allowing the mass sequencing of genomes and transcriptomes, which is producing a vast array of genomic information. The analysis of NGS data by means of bioinformatics developments allows discovering new genes and regulatory sequences and their positions, and makes available large collections of molecular markers. Genome-wide expression studies provide breeders with an understanding of the molecular basis of complex traits. Genomic approaches include TILLING and EcoTILLING, which make possible to screen mutant and germplasm collections for allelic variants in target genes. Re-sequencing of genomes is very useful for the genome-wide discovery of markers amenable for high-throughput genotyping platforms, like SSRs and SNPs, or the construction of high density genetic maps. All these tools and resources facilitate studying the genetic diversity, which is important for germplasm management, enhancement and use. Also, they allow the identification of markers linked to genes and QTLs, using a diversity of techniques like bulked segregant analysis (BSA), fine genetic mapping, or association mapping. These new markers are used for marker assisted selection, including marker assisted backcross selection, 'breeding by design', or new strategies, like genomic selection. In conclusion, advances in genomics are providing breeders with new tools and methodologies that allow a great leap forward in plant breeding, including the 'superdomestication' of crops and the genetic dissection and breeding for complex traits.

4.
Gene ; 256(1-2): 35-42, 2000 Oct 03.
Artículo en Inglés | MEDLINE | ID: mdl-11054533

RESUMEN

A putative Drosophila homolog of the Friedreich's ataxia disease gene (FRDA) has been cloned and characterized; it has been named Drosophila frataxin homolog (dfh). It is located at 8C/D position on X chromosome and is spread over 1kb, a much smaller genomic region than the human gene. Its genomic organization is simple, with a single intron dividing the coding region into two exons. The predicted encoded product has 190 amino acids, being considered a frataxin-like protein on the basis of the sequence and secondary structure conservation when compared with human frataxin and related proteins from other eukaryotes. The closest match between the Drosophila and the human proteins involved a stretch of 38 amino acids at C-terminus, encoded by dfh exon 2, and exons 4 and 5a of the FRDA gene, respectively. This highly conserved region is very likely to form a functional domain with a beta sheet structure flanked by alpha-helices where the sequence is less conserved. A signal peptide for mitochondrial import has also been predicted in the Drosophila frataxin-like protein, suggesting its mitochondrial localization, as occurs for human frataxin and other frataxin-like proteins described in eukaryotes. The Drosophila gene is expressed throughout the development of this organism, with a peak of expression in 6-12h embryos, and showing a spatial ubiquitous pattern from 4h embryos to the last embryonic stage examined. The isolation of dfh will soon make available specific dfh mutants that help in understanding the pathogenesis of FRDA.


Asunto(s)
Proteínas de Drosophila , Drosophila/genética , Ataxia de Friedreich/genética , Proteínas de Unión a Hierro , Fosfotransferasas (Aceptor de Grupo Alcohol)/genética , Secuencia de Aminoácidos , Animales , Northern Blotting , Clonación Molecular , ADN/química , ADN/genética , ADN Complementario/química , ADN Complementario/genética , Drosophila melanogaster/genética , Embrión no Mamífero/metabolismo , Desarrollo Embrionario , Exones , Regulación del Desarrollo de la Expresión Génica , Genes de Insecto/genética , Hibridación in Situ , Intrones , Datos de Secuencia Molecular , ARN Mensajero/genética , ARN Mensajero/metabolismo , Alineación de Secuencia , Análisis de Secuencia de ADN , Homología de Secuencia de Aminoácido , Frataxina
7.
Rev Esp Salud Publica ; 72(2): 111-8, 1998.
Artículo en Español | MEDLINE | ID: mdl-9643066

RESUMEN

BACKGROUND: To assess the quality of the prescribing of antibiotics to patients treated at a hospital emergency department (HED). METHODS: Retrospective study of the 8600 patients treated and released from a HED throughout the January-April 1996 period. Those patients for whom antibiotics were prescribed as stated on the release form were included. The parameters employed for assessing the prescribing quality were: illness subject to being treated with antibiotics, proper antibiotic, dosage, proper frequency and length of time over which the antibiotic is to be taken. Each one of these parameters was assigned a mark affording the possibility of quantifying quality on a 0-100 point scale. The assessment of the extent to which proper treatment was prescribed was made based on the recommendations described on four guides to the use of antibiotics. RESULTS: Antibiotics were prescribed to 609 (7.1%) of the patients, basically for treating urinary tract infections (17.7%), the prevention of wound infection (13.1%) and for the treatment of repeated attacks of chronic obstructive pulmonary disease (COPD) (10.3%). The antibiotic most often prescribed was cloxacillin (22.5%), followed by ciprofloxacin (13.4%) and clarithromycin (13.2%). Of all of the patients treated with antibiotics, 10.8% had no illness or any indication subject to being treated with these medications, and 32% of those patients who did indeed meet these requirements were prescribed an unsuitable antibiotic. Pneumonia was the illness for which the best quality of treatment was provided. The average mark for the prescriptions did not total 80 points in any of the guides. CONCLUSIONS: Antibiotics are medications frequently prescribed in HED's. Major errors are found to exist with regard to the indication, selection and length of the treatments initiated with these medications, as a result of which it is advisable that sustained educational measures be taken.


Asunto(s)
Antibacterianos/uso terapéutico , Prescripciones de Medicamentos , Servicio de Urgencia en Hospital , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Interpretación Estadística de Datos , Prescripciones de Medicamentos/normas , Utilización de Medicamentos , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Control de Calidad , Estudios Retrospectivos , España
11.
Rev Esp Salud Publica ; 71(1): 35-40, 1997.
Artículo en Español | MEDLINE | ID: mdl-9147796

RESUMEN

BACKGROUND: To assess the differences in appropriateness of consultations and demographic outline of people attended in a hospital emergency facility (HEP) along the hospital physicians strike period in spring 1995. METHODS: Observational cross-sectional study in Health Area 1 in the province of Badajoz. 8964 patients assisted along the strike period were compared with 8024 attended in the same period of 1994 (no strike). RESULTS: The patients average was 169.13 (SD 27.35) a day in the strike period, during the control period this mean was 151.39 (SD 19.78) patients a day (p < 0.001). Demographic variables of patients were similar in both groups, with similar mean ages and gender proportion in all age and residence site groups. Most of patients went to the HEF self-promoted (70.1% and 65.8%) and without ambulance (92% and 90.8%) in both periods (strike and control). The outcome of medical care was home discharge in 85.35% during the strike period and 83.81% in the control period, with admission rates of 13.1% and 14.15% (p < 0.01). CONCLUSIONS: There are no significant differences in the HEF use features completely explained by the physicians strike.


Asunto(s)
Servicio de Urgencia en Hospital , Cuerpo Médico de Hospitales , Médicos , Huelga de Empleados , Adolescente , Adulto , Anciano , Servicio de Urgencia en Hospital/estadística & datos numéricos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estaciones del Año , España
12.
Aten Primaria ; 20(6): 329-32, 1997 Oct 15.
Artículo en Español | MEDLINE | ID: mdl-9424166

RESUMEN

OBJECTIVE: To evaluate whether the introduction of out-patient blood pressure monitoring (OBPM) to follow up patients diagnosed with light hypertension (HT) decreases the use of medicines and so saves money. DESIGN: An observational study. SETTING: Urban health centre. PATIENTS AND OTHER PARTICIPANTS: Patients with light HT not being treated with medication, with two or less cardiovascular risk factors and who had type 0 or 1 curves in OBPM and a mean daily blood pressure < 135/85 mm Hg. MEASUREMENTS AND MAIN RESULTS: OBPM over 24 hours with a Spacelabs 90202 oscillometer. 23 patients (15 women), average age 38.6 +/- 8, were studied. Savings generated ranged from 153,628 pesetas, when the cheapest thiazide diuretic was prescribed, to 5,208,258 pesetas, when the dearest ACEI was chosen. CONCLUSIONS: Monitoring HT with OBPM led to a decrease in the use of medicines to combat hypertension, with considerable savings. These findings cannot be generalised. We believe that Primary Care must have access to OBPM in order to manage hypertension, apart from the savings involved.


Asunto(s)
Antihipertensivos/economía , Monitoreo Ambulatorio de la Presión Arterial/economía , Ahorro de Costo , Hipertensión/economía , Adulto , Antihipertensivos/uso terapéutico , Monitoreo Ambulatorio de la Presión Arterial/estadística & datos numéricos , Enfermedad Crónica , Ahorro de Costo/estadística & datos numéricos , Femenino , Humanos , Hipertensión/diagnóstico , Hipertensión/tratamiento farmacológico , Masculino , Factores de Riesgo , España
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