A new species of Polycirridae (Annelida: Terebellida) and three new reports for Cantabrian and Mediterranean Seas

[EN] Several polychaetes species from the central Cantabrian (NE Atlantic Ocean) and western Mediterranean Seas were studied. The Fabriciidae species Parafabricia mazzellae and Pseudofabricia aberrans are recorded for the first time in the western Mediterranean Sea and Novafabricia infratorquata in the northeast Atlantic Ocean (Cantabrian Sea). A new species of Polycirridae, Polycirrus asturiensis sp. nov., is described for the Cantabrian Sea; it is characterized by having two types of buccal tentacles, a transverse prostomium covering segment 1, a trilobed upper lip, notopodial lobes equally long, notochaetigerous segments with broadly >winged chaetae of different lengths and widths, up to segment 12, and type-1 neurochaetae beginning on segment 6. New habitat information for the fabricids Novafabricia infratorquata, Parafabricia mazzellae and Pseudofabricia aberrans is also provided.[FR] Une nouvelle espèce de Polycirridae (Annelida : Terebellida) et trois nouveaux signalements en Mer Cantabrique et en Méditerranée. Plusieurs espèces de polychètes appartenant aux familles Fabriciidae et Polycirridae ont été étudiées en Mer Cantabrique et en Méditerranée occidentale. Les espèces de la famille Fabriciidae, Parafabricia mazzellae et Pseudofabricia aberrans, sont signalées pour la première fois en Mer Méditerranée occidentale, ainsi que Novafabricia infratorquata en Mer Cantabrique, au nord-est de l’Océan Atlantique. Une nouvelle espèce de polycirridé, Polycirrus asturiensis sp. nov., est décrite en Mer Cantabrique. La nouvelle espèce est caractérisée par deux types de tentacules oraux, un prostomium transversal couvrant le premier segment du corps, une lèvre supérieure trilobée, les lobes du notopode de la même longueur, les segments avec notopodes portent des soies ailées de différentes longueurs et largeurs jusqu’au segment 12, et les neuropodes sont présents au segment 6 et portent des neurosoies de type 1. De nouvelles informations sur l’habitat des espèces Novafabricia infratorquata, Parafabricia mazzellae et Pseudofabricia aberrans sont fournies.This study was partially financed by the project CTM2014-57949-R founded by the Plan for Science and Technology of the Ministry of Science and Education to the Museo Nacional de Ciencias Naturales of the Agencia Estatal Consejo Superior de Investigaciones CientíficasPeer Reviewe

Calamities, Catastrophes, and Cataclysms: Current Trends in International Disaster Risk Management Practices for Cultural Heritage Sites

Several initiatives, conferences, and collaborative agreements in recent years have focused on cultural heritage protection in response to climate change and natural disasters. Despite an established network of institutions united in preserving the world’s cultural heritage, risk management planning for heritage properties remains in its infancy. This thesis asks what types of risk management for cultural heritage properties are currently being implemented and which organizations are doing this work. A review of disaster risk management activities of international heritage conservation groups reveals that organizations tend to focus their efforts on one of the three disaster phases: advance planning, emergency response, or post-disaster recovery. The reasons for this are directly related to the types of resources the agency or organization can commit to these activities: professional expertise, technical support, funding, local networks, or some combination of these. Recent examples show that collaboration between organizations with different resources but common goals can be successful, as in the case of the Haitian Gingerbread House project undertaken by the World Monuments Fund together with the Prince Claus Fund. Similar partnerships can be initiated before disaster strikes; to facilitate this, a centralized agency recognized by other international relief agencies that is capable of collecting data and coordinating response teams is needed. The most effective form of risk mitigation at any heritage site, however, is the inclusion of risk management procedures into general site management operations; regular maintenance and monitoring alone can substantially minimize damage and loss in unavoidable natural disasters

Comparative phylogeography of two symbiotic dorvilleid polychaetes (Iphitime cuenoti and Ophryotrocha mediterranea) with contrasting host and bathymetric patterns

22 páginas, 9 tablas, 6 figuras.Two symbiotic polychaetes living in brachyuran crabs in the western Mediterranean and the nearby eastern Atlantic, Iphitime cuenoti and Ophryotrocha mediterranea, were analysed to determine their phylogeographical patterns and the possible effects of known oceanographic barriers in the study area. The analysed species live in hosts inhabiting well-differentiated depths, a factor that may be crucial for understanding the different patterns observed in each species. Iphitime cuenoti was found in four different host crabs between 100 and 600 m depth and showed some level of genetic homogeneity, reflected in a star-like haplotype network. Furthermore, barrier effects were not observed. By contrast, O. mediterranea was exclusively found in a single host crab species living between 600 and 1200 m depth. Phylogeographical analyses showed two lineages that pre-date the existence of current barriers. The geological history of the study area, including the most recent glaciation events, probably led to a secondary contact between the lineages, thus forming a single metapopulation. The phylogeographical pattern found in each species may be explained by differences in dispersal ability, habitat, and host crab specificity that have led them to be differentially affected by historical events. This study is the first to use a phylogeographical approach on symbiotic polychaetes.This paper has been supported by the projects CTM2010-22218, CGL2011- 23306, and CTM2013-43287-P, funded by the Spanish State Research Plan, and the Consolidated Research Group on Marine Benthic Ecology of the Generalitat de Catalunya (2014SGR120).Peer reviewe

Detección de mutaciones en los genes pax3 y mitf en pacientes colombianos con síndrome waardenburg

Identificar las mutaciones en los genes PAX3 y MITF, responsables del Síndrome de Waardenburg en Colombia, determinar su frecuencia y establecer la correlación genotipo-fenotipo

Una mirada al albinismo óculo-cutáneo: reporte de mutaciones en el gen TYR en cinco individuos colombianos

Introduction. Oculocutaneus albinism is a pigment-related inherited disorder characterized by hypopigmentation of the skin, hair and eyes, foveal hypoplasia and low vision. To date, 230 mutations in the TYR gene have been reported as responsible for oculocutaneus albinism type 1 worldwide. TYR gene encodes the enzyme tyrosinase involved in the metabolic pathway of melanin synthesis.Objectives. Mutations were identified in the TYR gene as responsible for oculocutaneous albinism type 1 in five Colombian individuals, and a new ophthalmic system was tested that corrected visual defects and symptoms in a patient with oculocutaneous albinism.Materials and methods. Samples were taken from 5 individuals, four of whom belong to a single family, along with a fifth individual not related to the family. Five exons in the TYR gene were sequenced to search for the gene carriers in the family and in the non-related individual. In addition, clinical ophthalmological evaluation and implementation of an new oculo-visual system was undertaken.Results. A G47D and 1379delTT mutation was identified in the family. The unrelated individual carried a compound heterozygote for the G47D and D42N mutations. The oculo-visual corrective system was able to increase visual acuity and to diminish the nystagmus and photophobia.Conclusions. This is the first study in Colombia where albinism mutations are reported. The methods developed will enable future molecular screening studies in Colombian populations.Introducción. El albinismo óculo-cutáneo es un trastorno hereditario autosómico recesivo relacionado con la pigmentación. Sus manifestaciones clínicas incluyen hipopigmentación en piel, cabello y ojos, hipoplasia en la fóvea y disminución de la agudeza visual. A nivel mundial, hasta el momento, se han reportado, aproximadamente, 230 mutaciones en el gen TYR que causan albinismo óculo-cutáneo de tipo 1. Este gen codifica para la tirosinasa, enzima principal de la biosíntesis de melanina.Objetivos. Identificar las mutaciones en el gen TYR responsables del albinismo óculo-cutáneo de tipo 1 en cinco individuos colombianos; cuatro de ellos pertenecen a una misma familia y el otro individuo es un caso aislado no relacionado con la familia. Asimismo, se pretende evaluar un sistema oftálmico que permite corregir problemas de refracción, y disminuir el nistagmo y la fotofobia en uno de los casos.Materiales y métodos. Se hizo la secuenciación de los cinco exones del gen TYR en los cinco individuos de estudio y se buscaron portadores en la familia. Se llevó a cabo la evaluación clínica oftalmológica y la implementación del sistema correctivo en uno de los pacientes.Resultados. Se encontraron las mutaciones G47D y 1379delTT en la familia, y en el caso aislado, las mutaciones G47D y D42N. Con la implementación del sistema óculo-visual se logró incrementar la agudeza visual y disminuir el nistagmo.Conclusiones. Por ser el primer estudio en albinismo de este carácter en el país, estos resultados marcan una pauta para estudios posteriores de tamización molecular de albinismo en población colombiana. doi: http://dx.doi.org/10.7705/biomedica.v32i2.638

Comparative phylogeography of two symbiotic dorvilleid polychaetes with contrasting host-crab and bathymetric patterns

Presentación para el 8th Congress of the International Symbiosis Society, {Symbiotic Lifestyle}, 12-18 July 2015, Lisboa.-- 127 pagesPeer Reviewe

Estudio epidemiológico del síndrome de waardenburg en colombia

Ampliar los conocimientos clínicos y genéticos sobre el Síndrome de Waardenburg (WS), definiendo la frecuencia de los tipos de síndrome y su distribución geográfica en la población sorda colombiana