No abstract

The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in the urea cycle. About 10%-15% of patients, clinically diagnosed with OTC deficiency (OTCD), lack identifiable mutations in the coding region or splice junctions of the OTC gene on routine molecular testing. We collected DNA from such patients via retrospective review and by prospective enrollment. In nine of 38 subjects (24%), we identified a sequence variant in the OTC regulatory regions. Eight subjects had unique sequence variants in the OTC promoter and one subject had a novel sequence variant in the OTC enhancer. All sequence variants affect positions that are highly conserved in mammalian OTC genes. Functional studies revealed reduced reporter gene expression with all sequence variants. Two sequence variants caused decreased binding of the HNF4 transcription factor to its mutated binding site. Bioinformatic analyses combined with functional assays can be used to identify and authenticate pathogenic sequence variants in regulatory regions of the OTC gene, in other urea cycle disorders or other inborn errors of metabolism.

No abstract

No abstract

Introduction Patterns of worldwide immigration have resulted in high rates of discordance between medical providers and the patients they treat. For example, in the USA, 25 million individuals in the USA self‐identified that they speak English less than “very well.” Previous studies have generated mixed results regarding differences in postoperative outcomes between English proficient (EP) and limited English proficient (LEP) patients. Our objective was to determine whether a difference in outcomes exists for non‐English‐speaking patients compared to English‐speaking patients after operations commonly performed to treat cancer. Study design A retrospective cohort study was performed in an urban, safety net and tertiary referral medical center over a five‐year period. Adult patients undergoing cancer operations were stratified as EP and LEP. We evaluated 30‐day revisit to the ED, length of stay (LOS), long‐term all‐cause mortality, and any major complication on index admission. Regression was used to adjust for baseline comorbidities, case risk, and socioeconomic factors. Results A total of 2467 patients were included. There was no difference in case risk between language groups, but EP had a larger proportion of high comorbidity scores. Patients in the non‐English group were more likely to be uninsured/self‐pay and live in neighborhoods with lower median income. After adjustment, we found no difference in long‐term mortality [hazard ratio: 0.87 (95% CI 0.52–1.45)]. LEP patients had the same LOS compared to primary EP patients with an IRR of 0.99 (95% CI 0.88–1.10). There was no difference in the odds of revisit to hospital for LEP versus EP, with an OR of 1.08, 95% CI [0.75–1.53] and no difference in major complication (OR 0.76 (95% CI 0.39–1.45). Conclusions We found no association between language and outcomes after cancer operations. This lack of difference may reflect local efficacy at treating non‐English‐speaking patients, and health systems with fewer services for LEP patients might show different results.

No abstract

No abstract

No abstract