106 research outputs found

    Primary care physicians are under-testing for celiac disease in patients with iron deficiency anemia: Results of a national survey

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    BACKGROUND: Iron deficiency anemia (IDA) is a common extra-intestinal manifestation of celiac disease (CD). Little is known about the frequency with which primary care physicians (PCPs) test for CD in patients with IDA. We aimed to describe how PCPs approach testing for CD in asymptomatic patients with IDA. METHODS: We electronically distributed a survey to PCPs who are members of the American College of Physicians. Respondents were asked whether they would test for CD (serologic testing, refer for esophagogastroduodenoscopy [EGD], or refer to GI) in hypothetical patients with new IDA, including: (1) a young Caucasian man, (2) a premenopausal Caucasian woman, (3) an elderly Caucasian man, and (4) a young African American man. These scenarios were chosen to assess for differences in testing for CD based on age, gender, and race. Multivariable logistic regression was used to identify independent predictors of testing. RESULTS: Testing for CD varied significantly according to patient characteristics, with young Caucasian men being the most frequently tested (61% of respondents reporting they would perform serologic testing in this subgroup (p CONCLUSIONS: PCPs are under-testing for CD in patients with IDA, regardless of age, gender, race, or post-menopausal status. The majority of PCPs surveyed reported they do not strictly adhere to established guidelines regarding a confirmatory duodenal biopsy in a patient with positive serology for CD

    Patients’ Willingness to Share Limited Endoscopic Resources: A Brief Report on the Results of a Large Regional Survey

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    Background: In some health care systems, patients face long wait times for screening colonoscopy. We sought to assess whether patients at low risk for colorectal cancer (CRC) would be willing to delay their own colonoscopy so higher-risk peers could undergo colonoscopy sooner. Methods: We surveyed 1054 Veterans regarding their attitudes toward repeat colonoscopy and risk-based prioritization. We used multivariable regression to identify patient factors associated with willingness to delay screening for a higher-risk peer. Results: Despite a physician recommendation to stop screening, 29% of respondents reported being "not at all likely" to stop. However, 94% reported that they would be willing to delay their own colonoscopy for a higher-risk peer. Greater trust in physician and greater health literacy were positively associated with willingness to wait, while greater perceived threat of CRC and Black or Latino race/ethnicity were negatively associated with willingness to wait. Conclusion: Despite high enthusiasm for repeat screening, patients were willing to delay their own colonoscopy for higher-risk peers. Appealing to altruism could be effective when utilizing scarce resources

    Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency

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    Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy that was historically and empirically treated with pharmacologic doses of pyridoxine. Despite adequate seizure control, most patients with PDE-ALDH7A1 were reported to have developmental delay and intellectual disability. To improve outcome, a lysine-restricted diet and competitive inhibition of lysine transport through the use of pharmacologic doses of arginine have been recommended as an adjunct therapy. These lysine-reduction therapies have resulted in improved biochemical parameters and cognitive development in many but not all patients. The goal of these consensus guidelines is to re-evaluate and update the two previously published recommendations for diagnosis, treatment, and follow-up of patients with PDE-ALDH7A1. Members of the International PDE Consortium initiated evidence and consensus-based process to review previous recommendations, new research findings, and relevant clinical aspects of PDE-ALDH7A1. The guideline development group included pediatric neurologists, biochemical geneticists, clinical geneticists, laboratory scientists, and metabolic dieticians representing 29 institutions from 16 countries. Consensus guidelines for the diagnosis and management of patients with PDE-ALDH7A1 are provided. This article is protected by copyright. All rights reserved
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