Publications by authors named "Sofia Manicka"

Rationale: Acute cognitive impairment and abuse potential of ketamine incentivizes the search for alternatives to ketamine for clinical management of treatment-resistant depression. Recently, (2R,6R) hydroxynorketamine ((2R,6R)-HNK), a metabolite of ketamine, has shown promise due to its reported lack of ketamine-like reinforcing properties. Nonetheless, the effect of (2R,6R)-HNK on cognition has not been reported.

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Article Synopsis
  • Many patients referred for complex molecular profiling of tumors may have inherited genetic variants linked to hereditary cancer syndromes (HCS), but there's no standard method for analyzing or reporting these findings.
  • Data from Next-Generation Sequencing (NGS) was used to identify germline variants in genes tied to HCS, with validation through bioinformatic algorithms and Sanger sequencing when possible.
  • Out of 183 sampled patients, 56 variants were found in 40 individuals, with 17 of those likely originating from germline mutations, including 6 classified as pathogenic and 9 as variants of uncertain significance; the study suggests a minimal need for further tissue sequencing in a few cases to confirm these findings.
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