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Panzer, A.

Publications and source records attributed to Panzer, A..

2 recordsLinked to original sources

Adherence to the iDSI reference case among published cost-per-DALY averted studies

BackgroundThe iDSI reference case, originally published in 2014, aims to improve the quality and comparability of cost-effectiveness analyses (CEAs). This study assesses whether the development of the guideline has improved the reporting and methodology for CEAs using disability-adjusted life-years (DALYs).\n\nMethodsWe analyzed the Tufts Medical Center Global Health CEA Registry to identify cost-per-DALY averted studies published from 2011 to 2017. Among each of 11 principles in the iDSI reference case, we translated all reporting standards and methodological specifications into quantifiable yes/no questions and awarded articles one point for each item satisfied. We then separately calculated reporting and methods scores, measured as percent adherence (0%=no adherence, 100%=full adherence). Using the year 2014 as the dissemination period, we conducted a pre-post analysis. Additionally, we conducted an analysis stratified by the 11 principles and examined different scoring strategies and dissemination periods in sensitivity analyses.\n\nResultsArticles averaged 74% adherence to reporting standards and 60% adherence to methodological specifications. Adherence to reporting standards increased slightly over time (72% pre-2014 vs. 75% post-2014, p<0.01), but methodological adherence did not significantly improve (59% pre-2014 vs. 60% post-2014, p=0.53). Overall, reporting adherence scores exceeded methodology adherence scores (74% vs. 60%, p<0.001). Articles seldom addressed budget impact (9% reporting, 10% methodology) or equity (7% reporting, 7% methodology).\n\nConclusionsThe iDSI reference case has substantial potential to serve as a useful resource for researchers and policy-makers in global health settings, but greater effort to promote adherence and awareness is needed to achieve its potential.

scientific communication and education

Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy

Plasticity related gene 1 encodes a cerebral neuron-specific synaptic transmembrane protein that modulates hippocampal excitatory transmission on glutamatergic neurons. In mice, homozygous Prg1-deficiency results in juvenile epilepsy. Screening a cohort of 18 patients with infantile spasms (West syndrome), we identified one patient with a heterozygous mutation in the highly conserved third extracellular phosphatase domain (p.T299S). The functional relevance of this mutation was verified by in-utero electroporation of a mutant Prg1 construct into neurons of Prg1-knockout embryos, and the subsequent inability of hippocampal neurons to rescue the knockout phenotype on the single cell level. Whole exome sequencing revealed the index patient to additionally harbor a novel heterozygous SCN1A variant (p.N541S) that was inherited from her healthy mother. Only the affected child carried both heterozygous PRG1 and SCN1A mutations. The aggravating effect of Prg1-haploinsufficiency on the epileptic phenotype was verified using the kainate-model of epilepsy. Double heterozygous Prg1-/+|Scn1awt/p.R1648Hmice exhibited higher seizure susceptibility than either wildtype, Prg1-/+, or Scn1awt/p.R1648H littermates. Our study provides evidence that PRG1-mutations have a potential modifying influence on SCN1A-related epilepsy in humans.

neuroscience