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1.
Mar Pollut Bull ; 135: 534-539, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30301070

RESUMEN

The catch rates and the catch composition of lost nets were investigated during two seasons (fall and winter) in the southern Caspian Sea. A total of 167 surveys were conducted using anchor to retrieve ghost nets, which led to recover a total of 515 monofilaments gillnet. The most abundant caught species in during both seasons was belonged to Alosa caspia (52.1-43.9%). At both seasons, individuals of Huso huso, and Acipenser stellatus were substantially caught below the length at first maturity. The highest mean of catch rates was discovered at 0-10 m depth (2.79 kg), while the depth of 10-20 m provided the lowest amount of catch (2.0 kg). The Spearman correlation test showed that an increase in depth is reflected in lower values of the retrieved ghost nets. Overall, this study revealed that ghost gillnets is widely distributed in the southern Caspian Sea, mainly at the shallow waters.


Asunto(s)
Explotaciones Pesqueras , Animales , Mar Caspio , Peces , Estaciones del Año
2.
Clin Genet ; 93(4): 812-821, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29112224

RESUMEN

The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher syndrome (USH). Variants in the CIB2 gene have been previously reported to cause hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. In this study, we characterize the phenotypic spectrum in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL) due to variants in the CIB2 gene. Of the 6 families we ascertained, 3 segregated novel loss-of-function (LOF) variants, 2 families segregated missense variants (1 novel) and 1 family segregated a previously reported pathogenic variant in trans with a frameshift variant. This report is the first to show that biallelic LOF variants in CIB2 cause ARNSHL and not USH. In the era of precision medicine, providing the correct diagnosis (NSHL vs USH) is essential for patient care as it impacts potential intervention and prevention options for patients. Here, we provide evidence disqualifying CIB2 as an USH-causing gene.


Asunto(s)
Proteínas de Unión al Calcio/genética , Predisposición Genética a la Enfermedad , Pérdida Auditiva Sensorineural/genética , Síndromes de Usher/genética , Adulto , Femenino , Mutación del Sistema de Lectura/genética , Ligamiento Genético , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Mutación con Pérdida de Función/genética , Masculino , Persona de Mediana Edad , Linaje , Síndromes de Usher/diagnóstico , Síndromes de Usher/fisiopatología
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