RESUMEN
In this paper we describe the construction of an online GIS database system, hosted by WorldFish, which stores bio-physical, ecological and socio-economic data for the 'Coral Triangle Area' in South-east Asia and the Pacific. The database has been built in partnership with all six (Timor-Leste, Malaysia, Indonesia, The Philippines, Solomon Islands and Papua New Guinea) of the Coral Triangle countries, and represents a valuable source of information for natural resource managers at the regional scale. Its utility is demonstrated using biophysical data, data summarising marine habitats, and data describing the extent of marine protected areas in the region.
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Antozoos/fisiología , Arrecifes de Coral , Bases de Datos Factuales , Monitoreo del Ambiente , Animales , Asia Sudoriental , Atlas como Asunto , Conservación de los Recursos Naturales , Sistemas de Información Geográfica , Humanos , Internet , Océano PacíficoRESUMEN
We characterized an autosomal-recessive syndrome of focal epilepsy, dysarthria, and mild to moderate intellectual disability in a consanguineous Arab-Israeli family associated with subtle cortical thickening. We used multipoint linkage analysis to map the causative mutation to a 3.2 Mb interval within 16p13.3 with a LOD score of 3.86. The linked interval contained 160 genes, many of which were considered to be plausible candidates to harbor the disease-causing mutation. To interrogate the interval in an efficient and unbiased manner, we used targeted sequence enrichment and massively parallel sequencing. By prioritizing unique variants that affected protein translation, a pathogenic mutation was identified in TBC1D24 (p.F251L), a gene of unknown function. It is a member of a large gene family encoding TBC domain proteins with predicted function as Rab GTPase activators. We show that TBC1D24 is expressed early in mouse brain and that TBC1D24 protein is a potent modulator of primary axonal arborization and specification in neuronal cells, consistent with the phenotypic abnormality described.
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Proteínas Portadoras/genética , Epilepsias Parciales/complicaciones , Epilepsias Parciales/genética , Proteínas Activadoras de GTPasa/genética , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Mutación/genética , Secuencia de Aminoácidos , Animales , Axones/metabolismo , Proteínas Portadoras/química , Forma de la Célula , Mapeo Cromosómico , Femenino , Proteínas Activadoras de GTPasa/química , Humanos , Lactante , Masculino , Proteínas de la Membrana , Ratones , Datos de Secuencia Molecular , Proteínas del Tejido Nervioso , Neuronas/patología , Sistemas de Lectura Abierta/genética , Linaje , SíndromeRESUMEN
BACKGROUND: Catecholamines, especially epinephrine, are implicated in causing arrhythmias, hypertension, and recurrence of myocardial infarction (MI). Diminishing or blocking the effect of catecholamines is useful in cardiac rehabilitation. We have shown previously that a single 1-hour viewing of a humorous video attenuates epinephrine production. DESIGN: We hypothesized that daily participation in viewing humor would diminish catecholamine production and improve cardiac rehabilitation. METHODS: Forty-eight diabetic patients who had recently experienced an MI were divided into 2 matched groups and followed for 1 year in their cardiac rehabilitation programs. The experimental humor group was asked to view self-selected humor for 30 minutes daily as an adjunct to the standard cardiac therapy. Blood pressure, urinary and plasma epinephrine and norepinephrine levels, and 24-hour Holter recording were monitored monthly in both experimental humor and control groups. RESULTS: The patients in the humor group had fewer episodes of arrhythmias, lower blood pressure, lower urinary and plasma epinephrine and norepinephrine levels, less use of nitroglycerin for angina, and a markedly lower incidence of recurrent MI (2/24) than did the control group (10/24). CONCLUSION: Humor appears to attenuate catecholamines and MI recurrence and thus may be an effective adjunct in post-MI care.