36 research outputs found

    Influence of health literacy on maintenance of exclusive breastfeeding at 6 months postpartum: a multicentre study

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    Background: International organizations recommend initiating breastfeeding within the first hour of life and maintaining exclusive breastfeeding for the first 6 months. However, worldwide rates of exclusive breastfeeding for 6-month-old infants is far from meeting the goal proposed by the World Health Organization, which is to reach a minimum of 50% of infants. Education is one of the factors affecting the initiation and continuation of breastfeeding, and incidentally, it is also related to lower health literacy. This study explored the influence of health literacy on maintenance of exclusive breastfeeding at 6 months postpartum. Methods: A longitudinal multicenter study with 343 women were recruited between January 2019 and January 2020. The first questionnaire was held during the puerperium (24–48 h) with mothers practicing exclusive breastfeeding, with whom 6-month postpartum breastfeeding follow-up was performed. Socio-demographic, clinical and obstetric variables were collected. Breastfeeding efficiency was assessed using the LATCH breastfeeding assessment tool. The health literacy level was evaluated by the Newest Vital Sign screening tool. A multivariate logistic regression model was used to detect protective factors for early exclusive breastfeeding cessation. Results: One third of the women continued exclusive breastfeeding at 6 months postpartum. Approximately half the participants had a low or inadequate health literacy level. An adequate health literacy level, a high LATCH breastfeeding assessment tool score (>9 points) and being married were the protective factors against exclusive breastfeeding cessation at 6 months postpartum. Conclusion: Health literacy levels are closely related to maintaining exclusive breastfeeding and act as a protective factor against early cessation. A specific instrument is needed to measure the lack of “literacy in breastfeeding”, in order to verify the relationship between health literacy and maintenance of exclusive breastfeedin

    Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

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    Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7473G>A (p.=) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of 3 mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that 4 of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease.info:eu-repo/semantics/publishedVersio

    Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA

    Get PDF
    Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7437G>A) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of three mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that four of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease. clinicaltrials.gov identifier:02869074
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