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Children conceived through assisted reproductive technologies (ART) have an elevated risk of lower birthweight, yet the underlying cause remains unclear. Our study explores mitochondrial DNA (mtDNA) variants as contributors to birthweight differences by impacting mitochondrial function during prenatal development. We deep-sequenced the mtDNA of 451 ART and spontaneously conceived (SC) individuals, 157 mother-child pairs and 113 individual oocytes from either natural menstrual cycles or after ovarian stimulation (OS) and find that ART individuals carried a different mtDNA genotype than SC individuals, with more de novo non-synonymous variants. These variants, along with rRNA variants, correlate with lower birthweight percentiles, independent of conception mode. Their higher occurrence in ART individuals stems from de novo mutagenesis associated with maternal aging and OS-induced oocyte cohort size. Future research will establish the long-term health consequences of these changes and how these findings will impact the clinical practice and patient counselling in the future., (© 2024. The Author(s).)

Women attending public and private sector health facilities in Africa have reported abuse and neglect during childbirth, which carries a risk of poor health outcomes. We explored from the midwives' perspective the influence of an educational intervention in changing the attitudes, behaviour and practices of a group of midwives in Zimbabwe, using transformative learning theory as the conceptual framework. The twelve-week educational intervention motivating for Respectful Maternity Care consisted of a two-day workshop and five follow-up sessions every two weeks. Thematic analysis was conducted on eighteen reflective journals written by the midwives with member-checking during follow-up discussions and a further one-day participative workshop a year later. The midwives reported being more women-centred, with involvement of birth companions and use of different labour positions, stronger professional pride and agency, collaborative decision-making and less hierarchical relationships which persisted over the year. Their journal narratives included examples of treating birthing women with more compassion. Some categories aligned with the phases of transformative learning theory (self-examination of prior experience, building of competence and self-confidence into new roles and relationships). Others related to improving communications and effective teamwork, providing role-models of good behaviour, use of scientific knowledge to inform practice and demonstrating competence in management of complex cases. This study shows that innovative educational initiatives have the potential to change the way midwives work together, even in challenging physical environments, leading to a shared vision for the quality of service they want to provide, to improve health outcomes and to develop life-long learning skills., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Ray et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Objective: To assess health outcomes, including growth up to 2 years of age, in children born after embryo vitrification in comparison with children born after fresh embryo transfer., Design: A prospective cohort study., Setting: A single-center university hospital., Patient(s): Singletons born after the transfer of vitrified or fresh embryos, either at the cleavage or blastocyst stage between 2014 and 2018, were included., Intervention(s): Multiple linear and logistic regression analyses were used to study the association between outcomes after vitrified versus fresh embryo transfer, controlling for neonatal, treatment, and maternal characteristics. Subgroup analysis according to cycle protocol (hormone replacement vs. natural cycle) and strategy (freeze-all vs. previous fresh cycle) was also performed., Main Outcome Measure(s): Measurements at birth and growth in infancy and childhood, as well as health outcomes, including congenital malformations, interventions, medication use, and hospitalizations are reported., Result(s): Birth characteristics were available for 1237 and 2063 children born after embryo vitrification and fresh embryo transfer, respectively. Follow-up data were available for 582 and 757 children at infancy and for 233 and 296 children at 2 years, respectively. Birthweight, height, and head circumference SD scores of children born after embryo vitrification were higher than children born after fresh embryo transfer, even after adjustment for neonatal, treatment, and maternal characteristics. In infancy, weight and height SD scores were larger for children born after embryo vitrification, but not after adjustment for covariates. In childhood, no differences in anthropometry were observed between the groups. Weight and height gain from birth to infancy and from infancy to early childhood were comparable between the groups. Comparable rates of severe developmental problems, hospital admissions, surgical interventions, and of chronic medication use were observed up to the age of 2 years. Subgroup analysis showed that growth parameters were not affected by the cycle protocol or strategy at any age., Conclusion(s): Our study indicated that embryo vitrification is associated with higher birthweight, even after controlling for confounders. However, in early childhood, anthropometry and weight and height gain was not different in children born after vitrified or fresh embryo transfer., (Copyright © 2023. Published by Elsevier Inc.)

Direct ultrafast laser photoinscription of transparent materials is a powerful technique for the development of embedded 3D photonics. This is particularly adaptable for astrophotonic devices when a number of inputs are required. The process relies essentially on volume fabrication of waveguiding structures in flexible 3D designs and refractive index contrast parameters adjustable for specific spectral ranges. This enables 3D geometry and thus avoids in-plane crossings of waveguides that can induce losses and cross talk in multi-telescope beam combiners. The additional novel capability of the technique allows for the fabrication of high aspect ratio nanostructures nonperturbatively sampling the optical field. Combining ultrafast laser micro- and nanoprocessing with engineered beams, we present here results for the development of chip-sized silica glass integrated robust 3D three-telescope beam combiners in the near-IR range, as well as embedded diffraction gratings, for phase closure analysis and spectro-interferometry applications in astronomy.

A buried straight waveguide perturbed periodically by six antennas composed of submicronic cylinder voids is entirely fabricated using ultrafast laser photoinscription. The light scattered from each antenna is oriented vertically and is detected by a short-wave IR camera bonded to the surface of the glass with no relay optics. The response of each antenna is analyzed using a wavelength tunable laser source and compared to simulated responses verifying the behavior of the antenna. These results show the good potential of the direct laser writing technique to realize monolithic embedded detectors by combining complex optical functions within a 3D design. A wavelength meter application with a spectral resolution of 150 pm is proposed to demonstrate this combination.