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1.
Hum Mol Genet ; 30(13): 1188-1199, 2021 06 17.
Artículo en Inglés | MEDLINE | ID: mdl-33783477

RESUMEN

Age-related macular degeneration (AMD) is a complex neurodegenerative eye disease with behavioral and genetic etiology and is the leading cause of irreversible vision loss among elderly Caucasians. Functionally significant genetic variants in the alternative pathway of complement have been strongly linked to disease. More recently, a rare variant in the terminal pathway of complement has been associated with increased risk, Complement component 9 (C9) P167S. To assess the functional consequence of this variant, C9 levels were measured in two independent cohorts of AMD patients. In both cohorts, it was demonstrated that the P167S variant was associated with low C9 plasma levels. Further analysis showed that patients with advanced AMD had elevated sC5b-9 compared to those with non-advanced AMD, although this was not associated with the P167S polymorphism. Electron microscopy of membrane attack complexes (MACs) generated using recombinantly produced wild type or P167S C9 demonstrated identical MAC ring structures. In functional assays, the P167S variant displayed a higher propensity to polymerize and a small increase in its ability to induce hemolysis of sheep erythrocytes when added to C9-depleted serum. The demonstration that this C9 P167S AMD risk polymorphism displays increased polymerization and functional activity provides a rationale for the gene therapy trials of sCD59 to inhibit the terminal pathway of complement in AMD that are underway.


Asunto(s)
Complemento C9/genética , Predisposición Genética a la Enfermedad/genética , Degeneración Macular/genética , Mutación , Anciano , Animales , Células CHO , Estudios de Casos y Controles , Estudios de Cohortes , Complemento C9/metabolismo , Complejo de Ataque a Membrana del Sistema Complemento/metabolismo , Proteínas del Sistema Complemento/genética , Proteínas del Sistema Complemento/metabolismo , Cricetinae , Cricetulus , Femenino , Cobayas , Hemólisis , Humanos , Degeneración Macular/sangre , Degeneración Macular/metabolismo , Masculino , Polimerizacion , Factores de Riesgo , Ovinos
2.
Mar Pollut Bull ; 70(1-2): 162-70, 2013 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-23535190

RESUMEN

Storm-water drainage systems have potential to collect and focus nutrient enriched runoff into coastal systems. Storm-drain effluent could support macroalgal production and result in altered communities. To test this hypothesis, we assessed species composition and percent cover of native and non-native benthic macroalgae at eight intertidal sites along 'Ewa Beach, Hawai'i. Three sites contain storm-drainage outlets (drain 16-52 acres) that deliver effluent into the intertidal zone whereas five sites were located ≥ 100 m away and served as comparisons to determine differences related to the presence of storm-water. Results revealed lush and diverse macroalgal assemblages, similar at all sites. Furthermore, the abundance of non-native species (Acanthophora spicifera, Hypnea musciformis) was not related to presence of storm-drains. The finding that macroalgal assemblages are not related to storm-waters is contrary to an earlier investigation in the same location and underscores the importance of sampling design and habitat variation when assessing impacts.


Asunto(s)
Drenaje de Agua , Monitoreo del Ambiente , Algas Marinas/clasificación , Contaminantes del Agua/análisis , Hawaii , Algas Marinas/crecimiento & desarrollo , Eliminación de Residuos Líquidos , Movimientos del Agua , Contaminación del Agua/estadística & datos numéricos , Tiempo (Meteorología)
3.
Ecol Appl ; 22(4): 1201-12, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22827128

RESUMEN

Citizen scientist programs are a means to efficiently conduct large-scale surveys of ecosystems or managed species, provided that concerns over the quality and use of data generated by nonexperts can be addressed. This study presents actions taken in a citizen science program to assure data quality and demonstrates the validity of citizen-generated data. In this case the accuracy of data collected by secondary school students as citizens in a program that quantitatively sampled benthic rocky intertidal communities at 13 sites on Maui, Molokai, Oahu, and Hawai'i island during the years 2004-2007 was evaluated. In 2007, two independent research teams collected data simultaneously with students at five sites on eight sampling dates. Comparisons of Shannon diversity and Bray-Curtis similarity values computed and simulated from student and researcher collected data revealed that nonexpert students accurately collect community-level data within the range of the variation that occurs between researchers. Students were, however, likely to misidentify cryptic and rare species. These findings have direct implications for the conservation goals of the monitoring program as the assessment reveals that students are likely to misidentify early alien introductions but are able to monitor the abundances of native and introduced species once they become established. The validity assessment designed for this investigation is unique in that it directly compares consistent errors made by citizens in data collection to expert variability to identify usage limitations and can be a guide for future studies that involve the efforts of trained volunteers.


Asunto(s)
Biodiversidad , Participación de la Comunidad , Monitoreo del Ambiente/métodos , Monitoreo del Ambiente/normas , Animales , Hawaii , Humanos , Invertebrados , Plantas , Densidad de Población , Dinámica Poblacional , Estudiantes , Vertebrados
4.
J Fish Biol ; 75(10): 2670-81, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20738515

RESUMEN

Acoustic signals from the bird wrasse Gomphosus varius and saddle wrasse Thalassoma duperrey were recorded on coral reefs in Hawaii. Terminal phase males in both species emit two types of pulse trains (type I and type II). Type I pulses were produced during spawning and courtship, while type II pulses were associated only with courtship behaviours. Gomphosus varius type I pulses were of lower frequency than T. duperrey type I pulses (271 v. 840 Hz) and were of narrower band. Discriminant function analyses revealed interspecific differences between type I pulse trains and individual pulses of both types. This study is the first documentation of courtship and spawning sounds in sympatric labrids and shows divergence in acoustic signals.


Asunto(s)
Comunicación Animal , Cortejo , Perciformes/fisiología , Sonido , Acústica , Animales , Arrecifes de Coral , Hawaii , Masculino , Especificidad de la Especie
5.
J Wildl Dis ; 41(4): 753-7, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16456164

RESUMEN

Recent serologic studies have identified flying foxes (Pteropus spp.) as carriers of leptospirosis; however, little is known about the role of flying foxes as carriers of pathogenic Leptospira spp. To determine if Australian Pteropus spp. are carriers of pathogenic Leptospira spp., TaqMan real-time polymerase chain reaction (PCR) was used to detect leptospiral DNA in kidney and urine specimens from four species of flying fox, including the spectacled flying fox (Pteropus conspicillatus), black flying fox (Pteropus alecto), grey-headed flying fox (Pteropus poliocephalus), and little red flying fox (Pteropus scapulatus). Of the 173 kidney samples tested, 19 (11%) were positive for leptospiral DNA. Positive individuals were detected in all four species; significant differences in prevalence were not detected between species, between species within the same geographic area, or between geographically separated samples from the same species. Of the 46 urine samples tested, 18 (39%) tested positive by PCR, confirming that flying foxes shed leptospires into the environment. The detection of leptospiral DNA in the kidneys and urine of flying foxes suggests that flying foxes are carriers of pathogenic Leptospira spp. No evidence collected in the present study, however, suggests that flying foxes pose a significant risk of leptospirosis to the wider community or that humans who are in regular, close contact with flying foxes are at risk for leptospirosis.


Asunto(s)
Quirópteros/microbiología , Reservorios de Enfermedades/veterinaria , Leptospira/aislamiento & purificación , Leptospirosis/veterinaria , Animales , Australia/epidemiología , ADN Bacteriano/análisis , Reservorios de Enfermedades/microbiología , Femenino , Humanos , Riñón/microbiología , Leptospirosis/epidemiología , Leptospirosis/transmisión , Masculino , Reacción en Cadena de la Polimerasa/métodos , Reacción en Cadena de la Polimerasa/veterinaria , Especificidad de la Especie , Orina/microbiología , Zoonosis
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