692 research outputs found
Impacto socioeconómico del sismo ocurrido el 21 de enero de 2003 en el estado de Colima, México
Incluye BibliografíaEl presente estudio se realizó en virtud de la petición que el Gobierno del Estado de Colima formuló
a la Comisión Económica para América Latina y el Caribe (CEPAL);. Para ello se conjuntaron los
esfuerzos de esta institución con el Centro Nacional de Prevención de Desastres (CENAPRED); de
la Secretaría de Gobernación de México. El mismo se apoya en la metodología desarrollada por
CEPAL a lo largo de más de 30 años y que se resume en una metodología que permite evaluar el
impacto de este tipo de eventos en los aspectos económicos, sociales y ambientales; (1); y en la
experiencia de CENAPRED a nivel nacional. El CENAPRED viene realizando desde hace 5 años
una evaluación sistemática de las características y de los efectos socio-económicos de los desastres
naturales que han venido ocurriendo en el país. Coincidiendo con la preparación del equipo de
evaluadores que iría al lugar, y atendiendo a la solicitud formulada por el Gobernador del Estado de
Colima, el Lic. Fernando Moreno Peña a la Comisión Económica para América Latina y el Caribe
de las Naciones Unidas se integró un grupo conjunto entre los dos organismos.
El 21 de enero a las 20:30 horas se presentó un sismo de magnitud 7.8 en la escala de Richter
que afectó principalmente los Estados de Colima, Jalisco y Michoacán. El fenómeno causó 23
decesos, dejó un buen número de damnificados y provocó daños de consideración, particularmente
en el primero de los Estados mencionados.
Las autoridades nacionales de protección civil, incluyendo el Director del Centro Nacional de
Prevención de Desastres y un equipo de investigadores del Centro que integró una misión conjunta
con el equipo del Earthquake Engineering Research Institute (EERI);, del Grupo Interuniversitario
de Ingeniería Sísmica (GIIS); y del Sociedad Mexicana de Ingeniería Sísmica (SMIS);, se
movilizaron a las pocas horas de ocurrido el fenómeno al lugar del siniestro para apreciar la
magnitud del fenómeno y su radio de acción. Desde ahí se arbitraron las medidas para la atención
de la emergencia y se realizaron las constataciones que llevaron luego a la Declaratoria de Desastre
en un buen número de los municipios comprendidos en los tres Estados mencionados. El capítulo
IV de este documento se basa en los hallazgos de un grupo conjunto de CEPAL y CENAPRED.
El grupo, constituido por Daniel Bitrán, consultor de la CEPAL que coordinó el equipo y la
redacción de este documento, y los investigadores del CENAPRED Jorge A. Colorado Lango,
Norlang García Arróliga y Miguel Ángel Pacheco, viajó a cada uno de los Estados mencionados
durante el período comprendido entre el 4 y el 14 de marzo del presente año. Durante dicho lapso el
grupo se entrevistó con autoridades de las diversas dependencias estatales y delegaciones federales
que atendieron las áreas que fueron afectadas por el fenómeno. También se realizaron visitas de
campo. La información recabada sirvió de base al presente informe.
Para su labor en el Estado de Colima la misión contó con el apoyo del Director Estatal de
Protección Civil del Estado, Lic. Javier Eugenio Velasco Villa y del Director de Planeación de la
Secretaría de Planeación, Lic. José Luis Villa A. En los Estados de Jalisco y Michoacán se contó
con la colaboración de los Directores Estatales de Protección Civil, Mayor Trinidad López Rivas y
el C. Pedro Carlos Mandujano Vázquez, respectivamente.
En general, la evaluación presentada en este documento se apoya en la metodología de la
CEPAL que considera tanto los daños directos (afectación de acervos);, como los efectos indirectos,
tales como pérdidas de producción y mayores costos incurridos por el Estado a consecuencia del
desastre. Todo ello para cada uno de los sectores económicos y sociales con algún grado de
afectación derivado del fenómeno. Difiere por lo tanto de las evaluaciones realizadas por las
mismas dependencias para los efectos de acceder al Fondo de Desastres Naturales (FONDEN); que
atiende un universo más acotado y en el que predomina la reconstrucción de la infraestructura
pública dañada.
(1); Véase Manual para la evaluación del impacto socioeconómico y ambiental de los
desastres (versión preliminar); (LC/MEX/L.519/E);, mayo de 2002
Carbon turnover in the water-soluble protein of the adult human lens.
PurposeHuman eye lenses contain cells that persist from embryonic development. These unique, highly specialized fiber cells located at the core (nucleus) of the lens undergo pseudo-apoptosis to become devoid of cell nuclei and most organelles. Ostensibly lacking in protein transcriptional capabilities, it is currently believed that these nuclear fiber cells owe their extreme longevity to the perseverance of highly stable and densely packed crystallin proteins. Maintaining the structural and functional integrity of lenticular proteins is necessary to sustain cellular transparency and proper vision, yet the means by which the lens actually copes with a lifetime of oxidative stress, seemingly without any capacity for protein turnover and repair, is not completely understood. Although many years of research have been predicated upon the assumption that there is no protein turnover or renewal in nuclear fiber cells, we investigated whether or not different protein fractions possess protein of different ages by using the (14)C bomb pulse.MethodsAdult human lenses were concentrically dissected by gently removing the cell layers in water or shaving to the nucleus with a curved micrometer-controlled blade. The cells were lysed, and the proteins were separated into water-soluble and water-insoluble fractions. The small molecules were removed using 3 kDa spin filters. The (14)C/C was measured in paired protein fractions by accelerator mass spectrometry, and an average age for the material within the sample was assigned using the (14)C bomb pulse.ResultsThe water-insoluble fractions possessed (14)C/C ratios consistent with the age of the cells. In all cases, the water-soluble fractions contained carbon that was younger than the paired water-insoluble fraction.ConclusionsAs the first direct evidence of carbon turnover in protein from adult human nuclear fiber cells, this discovery supports the emerging view of the lens nucleus as a dynamic system capable of maintaining homeostasis in part due to intricate protein transport mechanisms and possibly protein repair. This finding implies that the lens plays an active role in the aversion of age-related nuclear (ARN) cataract
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing
addresses: Institute for Biomedical and Clinical Science, University of Exeter Medical School, Barrack Road, Exeter EX2 5DW, UK. [email protected]: PMCID: PMC3737433types: Journal Article; Research Support, Non-U.S. Gov'tOpen Access ArticleCurrent genetic tests for diagnosing monogenic diabetes rely on selection of the appropriate gene for analysis according to the patient's phenotype. Next-generation sequencing enables the simultaneous analysis of multiple genes in a single test. Our aim was to develop a targeted next-generation sequencing assay to detect mutations in all known MODY and neonatal diabetes genes
TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitors.
The genomic regulatory programmes that underlie human organogenesis are poorly understood. Pancreas development, in particular, has pivotal implications for pancreatic regeneration, cancer and diabetes. We have now characterized the regulatory landscape of embryonic multipotent progenitor cells that give rise to all pancreatic epithelial lineages. Using human embryonic pancreas and embryonic-stem-cell-derived progenitors we identify stage-specific transcripts and associated enhancers, many of which are co-occupied by transcription factors that are essential for pancreas development. We further show that TEAD1, a Hippo signalling effector, is an integral component of the transcription factor combinatorial code of pancreatic progenitor enhancers. TEAD and its coactivator YAP activate key pancreatic signalling mediators and transcription factors, and regulate the expansion of pancreatic progenitors. This work therefore uncovers a central role for TEAD and YAP as signal-responsive regulators of multipotent pancreatic progenitors, and provides a resource for the study of embryonic development of the human pancreas
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances
Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study of ‘age at first tooth’ and ‘number of teeth’ using 5998 and 6609 individuals respectively from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2,446,724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of fifteen independent loci, with ten loci reaching genome-wide significance (p<5x10−8) for ‘age at first tooth’ and eleven loci for ‘number of teeth’. Together these associations explain 6.06% of the variation in ‘age of first tooth’ and 4.76% of the variation in ‘number of teeth’. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including a SNP in the protein-coding region of BMP4 (rs17563, P= 9.080x10−17). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition
Routes for breaching and protecting genetic privacy
We are entering the era of ubiquitous genetic information for research,
clinical care, and personal curiosity. Sharing these datasets is vital for
rapid progress in understanding the genetic basis of human diseases. However,
one growing concern is the ability to protect the genetic privacy of the data
originators. Here, we technically map threats to genetic privacy and discuss
potential mitigation strategies for privacy-preserving dissemination of genetic
data.Comment: Draft for comment
High throughput method for analysis of repeat number for 28 phase variable loci of C. jejuni strain NCTC11168
Mutations in simple sequence repeat tracts are a major mechanism of phase variation in several bacterial species including Campylobacter jejuni. Changes in repeat number of tracts located within the reading frame can produce a high frequency of reversible switches in gene expression between ON and OFF states. The genome of C. jejuni strain NCTC11168 contains 29 loci with polyG/polyC tracts of seven or more repeats. This protocol outlines a method for rapidly determining ON/OFF states of these 28 phase-variable loci in a large number of individual colonies. The method combines a series of multiplex PCR assays with a GeneScan assay and automated extraction of tract length, repeat number and expression state. This high throughput, multiplex assay has utility for detecting shifts in phase variation states within and between populations over time and for exploring the effects of phase variation on adaptation to differing selective pressures. An important output of this assay is combinatorial expression states that cannot be determined by other methods. This method can be adapted to analysis of phase variation in other C. jejuni strains and in a diverse range of bacterial species
A rare SNP in pre-miR-34a is associated with increased levels of miR-34a in pancreatic beta cells.
Open Access Article.Changes in the levels of specific microRNAs (miRNAs) can reduce glucose-stimulated insulin secretion and increase beta-cell apoptosis, two causes of islet dysfunction and progression to type 2 diabetes. Studies have shown that single nucleotide polymorphisms (SNPs) within miRNA genes can affect their expression. We sought to determine whether miRNAs, with a known role in beta-cell function, possess SNPs within the pre-miRNA structure which can affect their expression. Using published literature and dbSNP, we aimed to identify miRNAs with a role in beta-cell function that also possess SNPs within the region encoding its pre-miRNA. Following transfection of plasmids, encoding the pre-miRNA and each allele of the SNP, miRNA expression was measured. Two rare SNPs located within the pre-miRNA structure of two miRNA genes important to beta-cell function (miR-34a and miR-96) were identified. Transfection of INS-1 and MIN6 cells with plasmids encoding pre-miR-34a and the minor allele of rs72631823 resulted in significantly (p < 0.05) higher miR-34a expression, compared to cells transfected with plasmids encoding the corresponding major allele. Similarly, higher levels were also observed upon transfection of HeLa cells. Transfection of MIN6 cells with plasmids encoding pre-miR-96 and each allele of rs41274239 resulted in no significant differences in miR-96 expression. A rare SNP in pre-miR-34a is associated with increased levels of mature miR-34a. Given that small changes in miR-34a levels have been shown to cause increased levels of beta-cell apoptosis this finding may be of interest to studies looking at determining the effect of rare variants on type 2 diabetes susceptibility
Innovasjon i samisk reindrift. Kvalitativ studie av faktorer som påvirker innovasjonen i samisk reindriftsnæring
Innovasjon blir hevdet å være løsning på økonomisk utvikling og vekst. Innovasjon har nær slektskap med entreprenørskap. Entreprenørskap er noe forsket på med hensyn på reindrift men innovasjon i reindriftkonteksten er ikke forsket. Denne studien forsøker å svare på hvilke faktorer det er som påvirker innovasjonen i den samiske reindriftsnæringen. Problemstillingen lyder slik: Hvilke faktorer kan påvirke innovasjonen til reindriftsutøvere og hvilken betydning har de på de ulike innovasjonstypene?
Studiens teoretiske forankring knytter seg til tidligere forskning av innovasjon i forskjellige kontekstuelle forhold. Faktorene som legger grunnlag for forskningen er relasjoner og nettverk, kunnskap og læring, dynamiske kapabiliteter, samisk kulturforhold, siidaelementer, og politiske virkemidler. Forskningsmetoden er en empirisk undersøkelse innenfor kvalitativ design der semistrukturerte intervjuer er brukt i datainnsamlingen. Intervjupersonene er reindriftsutøvere som har hatt innovasjon.
Resultatene fra forskningen viser at reindriftsnæringens innovasjon blir påvirket av samisk kultur som en initierende faktor til utvikling og innovasjon. Det ser ut til at siida som reindriftssamer er en del av vanligvis ikke påvirker innovative prosjekter, men det varierer mellom typer innovasjon og samtidig om det er innenfor distriktsterritorium. Videre kommer det frem at de allmenn faktorene for innovasjon og innovasjonsevne også her er avgjørende. Aktørene setter relasjoner høyt og det tyder på at disse har vært avgjørende for innovasjonen. For prosessinnovasjonene har ikke relasjoner hatt betydning, men for produkt- og markedsinnovasjon har relasjonene og nettverkene hatt og har stor betydning for innovasjonsevnen. Innovasjonen blir videre påvirket av formell eksplisitt kunnskap som de har opparbeidet seg gjennom læringsprosesser, dette varier imidlertid mellom prosess- og produktinnovasjoner. For prosessinnovasjoner har ikke eksplisitt kunnskap vært påvirkende, men taus uformell kunnskap, som er tilegnet gjennom praktisk arbeid og erfaring fra andre bransjer og kontekster. Det viser seg også forskjeller i politiske virkemidler. De med produktinnovasjon og gjerne radikal innovasjon har vært helt avhengig av økonomisk støtte og praktisk støtte fra offentlige støtteapparater. Aktørene med prosessinnovasjon viser til at økonomisk støtte ikke har vært avgjørende, på grunn av at det ikke er politisk støtte til prosessinnovasjoner og fordi de ikke har hatt behov for det. Videre kommer det frem at dynamiske kapabiliteter står relativt sterkt i reindriftsnæringen. Bedriftene er små og dynamiske, de består ikke av rigide strukturer og er flinke til å søke etter ekstern informasjon og kunnskap.
Nøkkelord: Innovasjon, påvirkningsfaktorer, reindriftsnæring, utvikling av innovasjon, innovasjonsevne, relasjoner og nettverk, dynamiske kapabiliteter, samisk kultur, siida, politiske virkemidler, kunnskap og lærin
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