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317,079 results
  • Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia. [Journal Article]
    Mol Diagn Ther 2019Zhao M, Chen YJ, … Lin X
  • CONCLUSIONS: Our work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for a KIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP. Beyond underscoring the utility of using both MLPA and WES in studies of HSP, our work deepens the scientific understanding of phenotypes for ADHSP and defines new genetic variants to facilitate future diagnoses.
  • Vancomycin volume of distribution estimation in adults with class III obesity. [Journal Article]
    Am J Health Syst Pharm 2019Dunn RD, Crass RL, … Krop LC
  • CONCLUSIONS: Results of the largest analysis of vancomycin V in class III obesity to date indicated that use of a fixed V value (75 L) and use of a TBW-based estimate (0.52 L/kg) for estimation of vancomycin V in patients with a BMI of ≥40.0 kg/m2 have similar bias. Two postdistribution vancomycin concentrations are needed to accurately determine patient-specific pharmacokinetic parameters, estimate AUC, and improve the precision of vancomycin dosing in this patient population.
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