Publications by authors named "J M Elson"

Introduction: Health information systems (HISs) should provide accessible and high-quality information to patients. However, the challenge lies in understanding patients' trust preferences for health information. This study explores how different information sources (e.

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Expanded carrier screening (ECS) is a genetic screening test carried out by analysing a blood sample. This screen can be used to detect whether the individual unknowingly carries gene variants associated with common genetic conditions, such as cystic fibrosis, that may be passed on to their children. It is typically performed in reproductive medicine for those who are considering having a family either naturally or via fertility treatment.

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Article Synopsis
  • The study investigates the relationship between mitochondrial DNA (mtDNA) variation and neurocognitive impairment in people with HIV (PWH), using MutPred scores to predict variant pathogenicity.
  • Researchers analyzed data from 744 PWH in the CHARTER study, finding that those with potentially harmful mtDNA variants were less likely to experience motor impairment.
  • The results suggest that these deleterious mtDNA variants may actually protect against motor function decline, indicating complex and not yet understood mechanisms at play.
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Objective: To determine whether mitochondrial haplogroups function as disease-modifiers or as susceptibility factors in preeclampsia using a traditional haplogroup association model.

Methods: This retrospective study haplotyped 235 control and 78 preeclamptic pregnancies from Denmark using either real-time PCR or Sanger sequencing depending on the rarity of the haplogroup.

Results: No significant association between haplogroups and the risk of preeclampsia was found, nor was any role for haplogroups in disease severity uncovered.

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