Publications by authors named "B N Meltzer"
Introduction: Wilson disease (WD) is a rare metabolic disorder of impaired copper transport manifesting in hepatic, neurological, and psychiatric symptoms. To evaluate the clinical symptoms of WD in clinical trials, a group of clinicians created the Unified Wilson Disease Rating Scale (UWDRS). Content validity of this scale has not been established.
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- This study focused on reanalyzing genome data using an automated system to find genetic variants in 16 undiagnosed pediatric cases.
- Researchers used a machine-learning tool called Moon™ to prioritize variants and found that 5 out of 16 cases had potentially significant genetic variants that weren't detected initially.
- The reanalysis led to a 25% increase in diagnostic findings, highlighting the importance of revisiting genome data as it can yield valuable insights that weren't captured in standard clinical tests.
Article Synopsis
- Maple syrup urine disease (MSUD) is a serious inherited metabolic disorder caused by a deficiency in the enzyme branched-chain alpha-ketoacid dehydrogenase, leading to dangerous levels of certain amino acids and potential brain damage if untreated.
- A study presented eleven individuals with MSUD linked to two specific genetic variants in the DBT gene, one being a deletion of exon 2 and the other a novel missense variant, which were confirmed to severely reduce protein production in liver cells.
- All individuals in the study had a neonatal-onset, classical form of MSUD and were found to originate from immigrant families from Honduras or El Salvador, indicating a potential genetic founder effect in this population.
Background & Aims: Eosinophilic esophagitis (EoE) is assessed endoscopically (endoscopic activity), based on grades of edema, rings, exudates, furrows, and strictures (EREFS). We examined variations in endoscopic assessments of severity, developed and validated 3 EREFS-based scoring systems, and assessed responsiveness of these systems using data from a randomized placebo-controlled trial of patients with EoE.
Methods: For the development set, 5 gastroenterologists reviewed EREFS findings from 266 adults with EoE and provided endoscopist global assessment scores (EndoGA, scale of 0 to 10); variation (ΔEndoGA) was assessed using linear regression.
In HIV infected macrophages, a large population of viral genomes persists as the unintegrated form (uDNA) that is transcriptionally active. However, how this transcriptional activity is controlled remains unclear. In this report, we investigated whether Tat, the viral transactivator of transcription, is involved in uDNA transcription.
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