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1.
Clin Genet ; 89(4): 461-465, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26346709

RESUMEN

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.

2.
Sci Rep ; 5: 12601, 2015 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-26213359

RESUMEN

Microbialites are sedimentary deposits formed by the metabolic interactions of microbes and their environment. These lithifying microbial communities represent one of the oldest ecosystems on Earth, yet the molecular mechanisms underlying the function of these communities are poorly understood. In this study, we used comparative metagenomic and metatranscriptomic analyses to characterize the spatial organization of the thrombolites of Highborne Cay, The Bahamas, an actively forming microbialite system. At midday, there were differences in gene expression throughout the spatial profile of the thrombolitic mat with a high abundance of transcripts encoding genes required for photosynthesis, nitrogen fixation and exopolymeric substance production in the upper three mm of the mat. Transcripts associated with denitrification and sulfate reduction were in low abundance throughout the depth profile, suggesting these metabolisms were less active during midday. Comparative metagenomics of the Bahamian thrombolites with other known microbialite ecosystems from across the globe revealed that, despite many shared core pathways, the thrombolites represented genetically distinct communities. This study represents the first time the metatranscriptome of living microbialite has been characterized and offers a new molecular perspective on those microbial metabolisms, and their underlying genetic pathways, that influence the mechanisms of carbonate precipitation in lithifying microbial mat ecosystems.


Asunto(s)
Metabolismo Energético/genética , Sedimentos Geológicos/microbiología , Metaboloma/genética , Agua de Mar/microbiología , Transcriptoma/genética , Bahamas , Metagenómica/métodos
3.
J Med Entomol ; 50(5): 1025-30, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24180107

RESUMEN

The stable fly, Stomoxys calcitrans (L.), is a cosmopolitan pest of livestock and humans. The pestiferous nature and painful bite cause stress to cattle and other animals. The stress and resulting avoidance behaviors manifest as reductions in weight gain or milk production in cattle; estimated annual economic loss in the United States exceeds US$2 billion. Understanding the population genetics of stable flies could provide information on their population dynamics, origins of outbreaks, and geographical patterns of insecticide resistance, resulting in a tactical advantage for developing management strategies. Previous studies, mostly on a local scale, reported a high level of gene flow between locations. Here, we report results wherein amplified fragment length polymorphism was used to determine genetic diversity of stable fly samples consisting of 11-40 individuals from 12 locations representing the United States, Canada, and Panama. The Analysis of Molecular Variance showed that the majority of genetic diversity was within groups; very little was among groups. The F(ST) and G(ST) values were low (< 0.4), Nm values high (> 1.0). The tests of neutrality suggested population expansion, and no genetic differentiation was found between locations. These results show that stable flies have a high level of gene flow on a continental scale, with limited isolation owing to distance or geographical barriers.


Asunto(s)
Muscidae/genética , Polimorfismo Genético , Análisis del Polimorfismo de Longitud de Fragmentos Amplificados , Animales , Canadá , Flujo Génico , Geografía , Panamá , Estados Unidos
4.
Geobiology ; 8(4): 337-54, 2010 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-20491947

RESUMEN

Thrombolites are unlaminated carbonate build-ups that are formed via the metabolic activities of complex microbial mat communities. The thrombolitic mats of Highborne Cay, Bahamas develop in close proximity (1-2 m) to accreting laminated stromatolites, providing an ideal opportunity for biogeochemical and molecular comparisons of these two distinctive microbialite ecosystems. In this study, we provide the first comprehensive characterization of the biogeochemical activities and microbial diversity of the Highborne Cay thrombolitic mats. Morphological and molecular analyses reveal two dominant mat types associated with the thrombolite deposits, both of which are dominated by bacteria from the taxa Cyanobacteria and Alphaproteobacteria. Diel cycling of dissolved oxygen (DO) and dissolved inorganic carbon (DIC) were measured in all thrombolitic mat types. DO production varied between thrombolitic types and one morphotype, referred to in this study as 'button mats', produced the highest levels among all mat types, including the adjacent stromatolites. Characterization of thrombolite bacterial communities revealed a high bacterial diversity, roughly equivalent to that of the nearby stromatolites, and a low eukaryotic diversity. Extensive phylogenetic overlap between thrombolitic and stromatolitic microbial communities was observed, although thrombolite-specific cyanobacterial populations were detected. In particular, the button mats were dominated by a calcified, filamentous cyanobacterium identified via morphology and 16S rRNA gene sequencing as Dichothrix sp. The distinctive microbial communities and chemical cycling patterns within the thrombolitic mats provide novel insight into the biogeochemical processes related to the lithifying mats in this system, and provide data relevant to understanding microbially induced carbonate biomineralization.


Asunto(s)
Bacterias/clasificación , Biodiversidad , Eucariontes/clasificación , Sedimentos Geológicos/microbiología , Microbiología del Suelo , Bacterias/citología , Bacterias/genética , Bacterias/aislamiento & purificación , Bahamas , Carbono/metabolismo , Análisis por Conglomerados , ADN/química , ADN/genética , ADN Ribosómico/química , ADN Ribosómico/genética , Eucariontes/citología , Eucariontes/genética , Eucariontes/aislamiento & purificación , Datos de Secuencia Molecular , Oxígeno/metabolismo , Filogenia , ARN Ribosómico 16S/genética , ARN Ribosómico 18S/genética , Análisis de Secuencia de ADN , Homología de Secuencia
5.
Vet Parasitol ; 170(3-4): 278-86, 2010 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-20359827

RESUMEN

The first objective was laboratory evaluation of the virulence of 53 Mexican isolates of fungi against larvae of Rhipicephalus (Boophilus) microplus. Thirty-three isolates of Metarhizium anisopliae var. anisopliae (Metschnickoff) Sorokin (Hypocreales: Clavicipitaceae) and 20 isolates of Isaria (Paecilomyces) fumosorosea (fumosoroseus) (Wize) (Eurotiales: Trichomaceae) were tested on 7-day-old larvae under laboratory conditions. Larvae were immersed in a suspension containing 10(8)conidia/mL and the CL(50) values were estimated. Then, field tests were conducted to determine the efficacy of formulations of the isolate with the highest virulence. M. anisopliae (Ma 14 isolate) was formulated with four carriers: Tween, Celite, wheat bran, and Citroline (mineral oil) and applied on pasture beds of Cynodon plectostachyus (L.), at a dose of 2 x 10(9)CFU/m(2). In the first trial, M. anisopliae was applied on plots naturally infested with larvae; in the second trial, tick populations in the experimental plots were eliminated and then re-infested with 20,000 7-day-old larvae. In the laboratory, all M. anisopliae isolates infected larvae with a mortality range between 2 and 100%; also, 13 of 20 I. fumosorosea isolates caused mortality rates between 7 and 94%. In the first field trial, 14 days post-application, conidial formulations in Celite and wheat bran caused 67.8 and 94.2% population reduction, respectively. In the second trial, the Tween formulation caused the highest larval reduction, reaching up to 61% (28 days post-application). Wheat bran formulation caused 58.3% larval reduction (21 days post-application) and was one of the most effective. The carriers and emulsifiers have a large impact on the effectiveness of conidial formulations.


Asunto(s)
Hongos/fisiología , Ixodidae/microbiología , Control Biológico de Vectores/métodos , Control de Ácaros y Garrapatas/métodos , Animales , Hongos/patogenicidad , Interacciones Huésped-Patógeno , Esporas Fúngicas , Virulencia
6.
Bull Entomol Res ; 97(3): 225-31, 2007 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-17524154

RESUMEN

The purpose of this research was to evaluate the genetic similarity and structure of the fall armyworm, Spodoptera frugiperda (J.E. Smith), populations associated with maize and cotton crops in Brazil using amplified fragment length polymorphisms. Mean genetic similarity among populations was 0.45. The unweighted pair group method with arithmetic mean analysis dendrograms did not separate populations of S. frugiperda into clusters related to the host plant in which the insects were collected. No genetic variation was observed among maize and cotton populations of S. frugiperda, suggesting that the same populations are injuring both crops in Brazil. This research validates the need for stewardship of crop-protection methods for managing S. frugiperda to reduce the incidence of pesticide resistance, due to the spatial and temporal overlapping of maize and cotton crops in some regions in Brazil.


Asunto(s)
Gossypium/parasitología , Polimorfismo de Longitud del Fragmento de Restricción , Spodoptera/genética , Zea mays/parasitología , Animales , Brasil
7.
J Vet Diagn Invest ; 9(3): 287-97, 1997 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9249168

RESUMEN

The distribution of cytopathic and noncytopathic biotypes of bovine viral diarrhea virus (BVDV) in the tissues of colostrum-fed and colostrum-deprived calves was investigated. Colostrum-fed (group A) and colostrum-deprived (group B) calves were experimentally infected with the BVDV isolate 80/1, which contains both BVDV biotypes. Colostrum-deprived calves were also experimentally infected with a noncytopathic BVDV (group C) or with a cytopathic BVDV (group D) cloned from the 80/1 isolate. All calves were sequentially euthanized, and a wide range of tissue samples were processed for immunofluorescent and virus isolation studies. In group A, consistent immunofluorescent staining for BVDV was detected in vascular smooth muscle of numerous blood vessels in the tissues examined, mainly at 11 and 13 days postinoculation. A predominance of samples containing cytopathic BVDV was observed in the calves of this group, following virus isolation studies. Both cytopathic and noncytopathic BVDV were detected/recovered from a larger range of specimens in the calves in group B than from the calves in group A. In the calves in all the experimental groups, large amounts of BVDV antigen were detected mainly in tissue samples from the lymphoid and gastrointestinal systems, whereas only minimal amounts of BVDV were detected in the respiratory tract. Abundant noncytopathic BVDV antigen was also detected in pituitary gland and in Langerhans islets in pancreases of colostrum-deprived calves infected with the cloned noncytopathic BVDV. Noncytopathic BVDV was isolated from a wider range of tissues from calves in group C than in the colostrum-deprived calves infected with both BVDV biotypes. A cytopathic BVDV was isolated/detected in retropharyngeal, mesenteric, and abomasal lymph nodes and in thymus of 2 calves in group C. Cytopathic BVDV was detected/isolated mainly from mesenteric lymph nodes and Peyer's patches of the calves in group D.


Asunto(s)
Anticuerpos Antivirales/sangre , Antígenos Virales/análisis , Diarrea Mucosa Bovina Viral/diagnóstico , Pestivirus/aislamiento & purificación , Animales , Diarrea Mucosa Bovina Viral/inmunología , Diarrea Mucosa Bovina Viral/patología , Bovinos , Calostro , Sistema Digestivo/patología , Sistema Digestivo/virología , Femenino , Técnica del Anticuerpo Fluorescente , Inmunohistoquímica , Tejido Linfoide/patología , Tejido Linfoide/virología , Músculo Liso Vascular/virología , Pestivirus/patogenicidad
8.
Am J Psychiatry ; 145(7): 836-43, 1988 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-3381928

RESUMEN

The authors present recommendations for educating medical students and psychiatric residents in geropsychiatry. They are primarily concerned with the objectives and methods rather than the content of training. Proposals are structured in terms of training objectives and educational settings in which such training takes place. The proposals are intended to be specific enough to be truly useful and at the same time sufficiently generalizable to adapt to geropsychiatric training in a variety of institutions. Priority is given to integrating knowledge of normal and abnormal aging with the clinical skills and empathy necessary to approach patients with competence and understanding.


Asunto(s)
Curriculum , Psiquiatría Geriátrica/educación , Anciano , Educación de Pregrado en Medicina , Humanos , Internado y Residencia , Enseñanza/métodos , Estados Unidos
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