Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center

Universal newborn hearing screening (UNHS) is of paramount importance for early identification and management of hearing impairment in children. However, infants with slight/mild, progressive, or late-onset hearing impairment might be missed in conventional UNHS. To investigate whether genetic screening for common deafness-associated mutations could assist in identifying these infants, 1017 consecutive newborns in a tertiary hospital were subjected to both newborn hearing screening using a two-step distortion-product otoacoustic emissions (DPOAE) screening and newborn genetic screening (NGS) for deafness. The NGS targeted 4 deafness-associated mutations commonly found in the Taiwanese population, including p.V37I (c.109G>A) and c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.1555A>G of the 12S rRNA gene. The results of the NGS were then correlated to the results of the NHS. Of the 1017 newborns, 16 (1.6%) had unilateral DPOAE screening failure, and 22 (2.2%) had bilateral DPOAE screening failure. A total of 199 (19.6%) babies were found to have at least 1 mutated allele on the NGS for deafness, 11 (1.1%) of whom were homozygous for GJB2 p.V37I, 6 (0.6%) compound heterozygous for GJB2 p.V37I and c.235delC, and 1 (0.1%) homoplasmic for m.1555A>G, who may potentially have hearing loss. Among them, 3 babies, 5 babies, and 1 baby, respectively, passed the NHS at birth. Comprehensive audiological assessments in the 9 babies at 3 months identified 1 with slight hearing loss and 2 with mild hearing loss. NGS for common deafness-associated mutations may identify infants with slight/mild or potentially progressive hearing impairment, thus compensating for the inherent limitations of the conventional UNHS

The effects of eyestalk ablation on oxygen-consumption and ammonia-N excretion of juvenile shrimp Penaeus-monodon.

Diffusion du document : INRA Station d'Economie et Sociologie rurales 65 rue de Saint-Brieuc 35042 Rennes Cedex (FRA)Cette communication réfère à une étude européenne comparative basée sur des enquêtes effectuées en 1978-1979 auprès de 2450 conjointes d'exploitants agricoles familiaux, sur leurs conditions de vie et de travail.Cette étude met en relief, notamment par temps de l'analyse du temps de travail, l'importance et la régularité de la contribution féminine aux travaux d'élevage dans 6 pays considérés, alors que la participation de culture et de récolte présente de fortes variations saisonnières et géographiques.Toutefois le temps moyen que les agricultrices consacrent à l'élevage dépend beaucoup du type de cheptel élevé : dans tous les pays, le temps maximal est atteint dans les exploitations laitières. De façon générale, parmi les tâches d'élevage, certaines apparaissent comme particulièrement féminisées, notamment. la traite et les soins aux jeunes animaux. Qu'en sera-t.-il à l'avenir dans les élevages hautement "technicisés", requérant de plus en plus de qualification