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1.
Hum Genet ; 141(3-4): 607-622, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34387732

RESUMO

The French-Canadian population of Saguenay-Lac-Saint-Jean is known for its homogenous genetic background. The hereditary causes of hearing loss were previously unexplored in this population. Individuals with hearing loss were referred from the otorhinolaryngology, pediatrics and family physicians' clinics to the medical genetics service at the Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean between June 2015 and March 2021. A regional clinical evaluation strategy was developed. Samples from 63 individuals belonging to 41 families were sent independently to different molecular clinical laboratories and index cases were analyzed through comprehensive multigene panels, with a diagnostic rate of 54%. Sixteen hearing loss causal variants were identified in 12 genes, with eight of these variants not been previously reported in the literature. Recurrent variants were present in four genes, suggesting a possible founder effect, while GJB2 gene variants were scarce. A comprehensive multigene panel approach as part of the proposed clinical evaluation strategy offers a high diagnostic yield for this population.


Assuntos
Surdez , Perda Auditiva , Canadá/epidemiologia , Criança , Efeito Fundador , Perda Auditiva/genética , Humanos , Quebeque/epidemiologia
2.
PLoS One ; 8(3): e59311, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23544059

RESUMO

Understanding the effects of climatic variability on marine mammals is challenging due to the complexity of ecological interactions. We used general linear models to analyze a 15-year database documenting marine mammal strandings (1994-2008; n = 1,193) and nine environmental parameters known to affect marine mammal survival, from regional (sea ice) to continental scales (North Atlantic Oscillation, NAO). Stranding events were more frequent during summer and fall than other seasons, and have increased since 1994. Poor ice conditions observed during the same period may have affected marine mammals either directly, by modulating the availability of habitat for feeding and breeding activities, or indirectly, through changes in water conditions and marine productivity (krill abundance). For most species (75%, n = 6 species), a low volume of ice was correlated with increasing frequency of stranding events (e.g. R(2)adj = 0.59, hooded seal, Cystophora cristata). This likely led to an increase in seal mortality during the breeding period, but also to increase habitat availability for seasonal migratory cetaceans using ice-free areas during winter. We also detected a high frequency of stranding events for mysticete species (minke whale, Balaenoptera acutorostrata) and resident species (beluga, Delphinapterus leucas), correlated with low krill abundance since 1994. Positive NAO indices were positively correlated with high frequencies of stranding events for resident and seasonal migratory cetaceans, as well as rare species (R(2)adj = 0.53, 0.81 and 0.34, respectively). This contrasts with seal mass stranding numbers, which were negatively correlated with a positive NAO index. In addition, an unusual multiple species mortality event (n = 114, 62% of total annual mortality) in 2008 was caused by a harmful algal bloom. Our findings provide an empirical baseline in understanding marine mammal survival when faced with climatic variability. This is a promising step in integrating stranding records to monitor the consequences of environmental changes in marine ecosystems over long time scales.


Assuntos
Ecossistema , Mamíferos/fisiologia , Água do Mar , Animais , Biodiversidade , Geografia , Gelo , Modelos Lineares , Quebeque , Estações do Ano , Fatores de Tempo
3.
Proc Natl Acad Sci U S A ; 110(3): 1000-5, 2013 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-23277544

RESUMO

A perceived recent increase in global jellyfish abundance has been portrayed as a symptom of degraded oceans. This perception is based primarily on a few case studies and anecdotal evidence, but a formal analysis of global temporal trends in jellyfish populations has been missing. Here, we analyze all available long-term datasets on changes in jellyfish abundance across multiple coastal stations, using linear and logistic mixed models and effect-size analysis to show that there is no robust evidence for a global increase in jellyfish. Although there has been a small linear increase in jellyfish since the 1970s, this trend was unsubstantiated by effect-size analysis that showed no difference in the proportion of increasing vs. decreasing jellyfish populations over all time periods examined. Rather, the strongest nonrandom trend indicated jellyfish populations undergo larger, worldwide oscillations with an approximate 20-y periodicity, including a rising phase during the 1990s that contributed to the perception of a global increase in jellyfish abundance. Sustained monitoring is required over the next decade to elucidate with statistical confidence whether the weak increasing linear trend in jellyfish after 1970 is an actual shift in the baseline or part of an oscillation. Irrespective of the nature of increase, given the potential damage posed by jellyfish blooms to fisheries, tourism, and other human industries, our findings foretell recurrent phases of rise and fall in jellyfish populations that society should be prepared to face.


Assuntos
Periodicidade , Cifozoários/crescimento & desenvolvimento , Animais , Mudança Climática , Cnidários/crescimento & desenvolvimento , Ctenóforos/crescimento & desenvolvimento , Bases de Dados Factuais , Fenômenos Ecológicos e Ambientais , Ecossistema , Humanos , Dinâmica Populacional , Fatores de Tempo , Urocordados/crescimento & desenvolvimento , Zooplâncton/crescimento & desenvolvimento
4.
Adv Mar Biol ; 57: 277-306, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20955896

RESUMO

We consider predation as a function of prey concentration with a focus on how this interaction is influenced by biological-physical interactions, and wider oceanographic processes. In particular, we examine how the anti-predation behaviour of Northern krill interacts with ocean-circulation process to influence its vulnerability to predation. We describe how three-dimensional (3D) circulation interacts with in situ light levels to modulate predator-prey interactions from small to large scales, and illustrate how the stability of the predator-prey system is sometimes perturbed as a consequence. Northern krill predators include a wide range of species from the pelagic and benthic strata, as well as birds. Many exhibit adaptations in their feeding strategy to take advantage of the dynamic physical-biological processes that determine the distribution, concentration and vulnerability of Northern krill. Among them, baleen whales appear to have developed particularly efficient predation strategies. A literature search indicates that Northern krill are a major contributor to ecosystem function throughout its distributional range, and a key species with respect to the flow of energy to upper trophic levels. A list of future research needed to fill gaps in our understanding of Northern krill predator-prey interaction is provided.


Assuntos
Euphausiacea/fisiologia , Comportamento Predatório/fisiologia , Animais , Aves , Cetáceos , Crustáceos , Ecossistema , Peixes
5.
PLoS One ; 5(8): e12182, 2010 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-20824204

RESUMO

Evaluating and understanding biodiversity in marine ecosystems are both necessary and challenging for conservation. This paper compiles and summarizes current knowledge of the diversity of marine taxa in Canada's three oceans while recognizing that this compilation is incomplete and will change in the future. That Canada has the longest coastline in the world and incorporates distinctly different biogeographic provinces and ecoregions (e.g., temperate through ice-covered areas) constrains this analysis. The taxonomic groups presented here include microbes, phytoplankton, macroalgae, zooplankton, benthic infauna, fishes, and marine mammals. The minimum number of species or taxa compiled here is 15,988 for the three Canadian oceans. However, this number clearly underestimates in several ways the total number of taxa present. First, there are significant gaps in the published literature. Second, the diversity of many habitats has not been compiled for all taxonomic groups (e.g., intertidal rocky shores, deep sea), and data compilations are based on short-term, directed research programs or longer-term monitoring activities with limited spatial resolution. Third, the biodiversity of large organisms is well known, but this is not true of smaller organisms. Finally, the greatest constraint on this summary is the willingness and capacity of those who collected the data to make it available to those interested in biodiversity meta-analyses. Confirmation of identities and intercomparison of studies are also constrained by the disturbing rate of decline in the number of taxonomists and systematists specializing on marine taxa in Canada. This decline is mostly the result of retirements of current specialists and to a lack of training and employment opportunities for new ones. Considering the difficulties encountered in compiling an overview of biogeographic data and the diversity of species or taxa in Canada's three oceans, this synthesis is intended to serve as a biodiversity baseline for a new program on marine biodiversity, the Canadian Healthy Ocean Network. A major effort needs to be undertaken to establish a complete baseline of Canadian marine biodiversity of all taxonomic groups, especially if we are to understand and conserve this part of Canada's natural heritage.


Assuntos
Biodiversidade , Animais , Canadá , Classificação , Oceanos e Mares
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