Publications by authors named "Julian Schaefer"

Polygenic risk scores (PRSs) have recently been used to inform reproductive decision-making in the context of embryonic screening. While this is yet to be widespread, it is contested and raises several challenges. This article provides an overview of some of the ethical considerations that arise with using PRSs for embryo screening and offers a series of regulatory considerations for jurisdictions that may wish to permit this in the future.

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  • Autism spectrum disorders (ASD) involve variations in neurodevelopment that can be influenced by co-occurring conditions like ADHD, impacting clinical characteristics.
  • This study analyzed brain measurements (cortical thickness and surface area) in 533 individuals with ASD to see how ADHD affects these neuroanatomical traits and explored genetic links.
  • Results indicated significant differences in brain structure between individuals with ASD alone and those with ASD + ADHD, highlighting the role of genetics specific to ASD in these variations, while noting limitations due to the small ADHD-only group size.
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The development of some COVID-19 vaccines by private companies like Moderna and Sanofi-GSK has been substantially funded by various governments. While the Sanofi CEO has previously suggested that countries that fund this development ought to be given some priority, this suggestion has not been taken seriously in the literature. Considerations of nationalism, sustainability, need, and equitability have been more extensively discussed with respect to whether and how much a country is entitled to advance purchase orders of the vaccine under conditions of absolute scarcity.

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Importance: Although effective agents are available to prevent painful vaso-occlusive episodes of sickle cell disease (SCD), there are no disease-modifying therapies for ongoing painful vaso-occlusive episodes; treatment remains supportive. A previous phase 3 trial of poloxamer 188 reported shortened duration of painful vaso-occlusive episodes in SCD, particularly in children and participants treated with hydroxyurea.

Objective: To reassess the efficacy of poloxamer 188 for vaso-occlusive episodes.

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Objectives: Lipoprotein(a) [Lp(a)] is mainly similar in composition to LDL, but differs in having apolipoprotein (apo) (a) covalently linked to apoB-100. Our purpose was to examine the individual metabolism of apo(a) and apoB-100 within plasma Lp(a).

Materials And Methods: The kinetics of apo(a) and apoB-100 in plasma Lp(a) were assessed in four men with dyslipidemia [Lp(a) concentration: 8.

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