Perioperative management of children with glycogen storage disease type II-Pompe disease

Background: Pompe disease is a rare metabolic disorder caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Glycogen accumulation damages skeletal, cardiac, and smooth muscles, causing a progressive and debilitating muscle weakness and cardiomyopathy. As life expectancy has much improved since the introduction of enzyme replacement therapy an increasing number of patients are referred for surgical procedures. Due to the potential cardiopulmonary complications, these patients form a high-risk group for the anesthesiologist. Aims: In this study, we investigated the incidence of perioperative complications in children with Pompe disease treated in our hospital since the introduction of enzyme replacement therapy. Methods: Anesthetic and perioperative data of children with Pompe disease treated between 1999 and 2015 in the Erasmus MC-Sophia Children's Hospital, University Medical Centre, Rotterdam, The Netherlands, were collected, retrospectively. Results: Of the 65 children with Pompe disease, 34 patients underwent in total 77, mostly low-risk, surgical procedures. Twenty-one children had the classic infantile form and 13 had a nonclassic presentation of Pompe disease. In 13 (16.8%) procedures, 1 or more perioperative complications occurred. Perioperative desaturation was the main complication (12.9%), followed by arrhythmia (3.8%) and heart failure requiring diuretic treatment (2.6%). One child died 2 days postoperatively, but this was considered unrelated to the procedure. Conclusion: Despite the potentially high anesthetic risk for children with Pompe disease under enzym

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

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

Changes in health sciences students' perception of obstetric violence after an educational intervention

Background Obstetric violence is a type of gender-based violence that is presented structurally. This type of violence has physical and psychological consequences for both the women who experience it and health professionals. The World Health Organization adds that health professionals need training to ensure that pregnant women are treated with compassion and dignity. Objectives The objective of the study was to evaluate health sciences students' perception of obstetric violence and to identify possible changes after an educational intervention. Design A pre-post quasi-experimental study was carried out between January and June 2019. Settings and participants Students of medicine and nursing from Jaume I University (Universitat Jaume I) (Spain). Methods An ad hoc scale comprising 33 items was designed to measure the students' perceptions. In addition, sociodemographic and control variables were collected. Descriptive analyses of the sample and the scale were carried out, and a bivariate analysis was performed. Results Of the students surveyed, 89.7% were women, and the majority was nursing students. Of the 33 items, 28 (84.84%) showed statistically significant changes in the pre-post-intervention measurement. Twenty-five of the 33 items (75.75%) showed a relationship with the sociodemographic variables of gender, field, course and ever having been pregnant. Conclusion This study shows the change in health sciences students' perceptions of obstetric violence after an educational intervention. In addition, the normalization of this type of violence was observed with the progression of training and with personal obstetric experience.Background Obstetric violence is a type of gender-based violence that is presented structurally. This type of violence has physical and psychological consequences for both the women who experience it and health professionals. The World Health Organization adds that health professionals need training to ensure that pregnant women are treated with compassion and dignity

Web Communication of French Geoparks in Education: The Expression of Their Legitimacy

International audienceIn France seven areas are labeled “UNESCO World Geoparks”: the Haute-Provence national nature reserve, the Luberon massif, the Bauges Mountains, the Chablais Alps, the Ardèche Mountains, the causses du Quercy and the Beaujolais. To obtain the label, the geopark must be able to justify its active participation in school education for sustainable development, which addresses socioenvironmental issues related to the territory and heritage. French geoparks are thus faced with a dual problem of public recognition, sometimes in a context of hyper-patrimonialization, and a demand for deployment to formal educational environments. To open a web page of a site related to a geopark is to immerse yourself in a (geo)graphic environment. The analysis of the statements on the education of the websites of French geoparks according to the different dimensions of a unified educational theory for each territory shows that, beyond the specific territorial features advanced, convergence with education for sustainable school development is preponderant

Data from: De novo active sites for resurrected Precambrian enzymes

Protein engineering studies often suggest the emergence of completely new enzyme functionalities to be highly improbable. However, enzymes likely catalysed many different reactions already in the last universal common ancestor. Mechanisms for the emergence of completely new active sites must therefore either plausibly exist or at least have existed at the primordial protein stage. Here, we use resurrected Precambrian proteins as scaffolds for protein engineering and demonstrate that a new active site can be generated through a single hydrophobic-to-ionizable amino acid replacement that generates a partially buried group with perturbed physico-chemical properties. We provide experimental and computational evidence that conformational flexibility can assist the emergence and subsequent evolution of new active sites by improving substrate and transition-state binding, through the sampling of many potentially productive conformations. Our results suggest a mechanism for the emergence of primordial enzymes and highlight the potential of ancestral reconstruction as a tool for protein engineering

Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour