Citations

Objective To inform migraine care model development by assessing differences between patients with chronic migraine (CM) and episodic migraine (EM) in the current state of treatment, disability, patient satisfaction, and quality improvement opportunities. Background Efficient and focused use of scarce resources will be needed to address challenges within large populations of migraine patients. Methods We deployed a cross‐sectional survey study of randomly selected migraine patients within a community primary care practice. Results There were 516 survey respondents (516/1804 [30%] response rate). CM patients were more likely than EM patients to report care from a neurologist (76/110 [69%] vs 229/406 [56%]; P = .0026), and higher disability according to the Migraine Disability Assessment and Headache Impact Test – 6 questionnaires ( P < .0001). CM patients were less likely than EM patients to report overall satisfaction with care (16/110 [38%] vs 156/406 [66%], P = .0002), satisfaction with access to care (17/110 [33%] vs 176/406 [68%], P < .0001), and advice they needed (16/110 [31%] vs 160/406 [62%], P < .0001). Most patients with migraine had been offered triptan medications 377/516 (78%). Overall, 156/516 (31%) of individuals were currently taking any medication for migraine prevention, and 208/516 (40%) including botulinum toxin injections. CM patients were more likely to be taking preventive medication (39/110 [36%] vs 117/406 [29%], P = .0191) and report familiarity with the diagnosis of medication‐overuse headache than patients with EM (80/110 [81%] vs 256/406 [69%], P = .0178). Conclusions We observed differences between patients with chronic and EM and expected care delivery improvement opportunities for migraine patients in primary care. CM patients report higher levels of disability and less satisfaction with access to perceived needed medical advice and care. These findings support the need to further develop and study novel care models to efficiently and effectively deliver high‐quality care and expertise in limited supply to a diverse migraine population.

Objectives To develop neurology scenarios for use with the Quality Improvement Knowledge Application Tool Revised (QIKAT-R), gather and evaluate validity evidence, and project the impact of scenario number, rater number and rater type on score reliability. Methods Six neurological case scenarios were developed. Residents were randomly assigned three scenarios before and after a quality improvement (QI) course in 2015 and 2016. For each scenario, residents crafted an aim statement, selected a measure and proposed a change to address a quality gap. Responses were scored by six faculty raters (two with and four without QI expertise) using the QIKAT-R. Validity evidence from content, response process, internal structure, relations to other variables and consequences was collected. A generalisability (G) study examined sources of score variability, and decision analyses estimated projected reliability for different numbers of raters and scenarios and raters with and without QI expertise. Results Raters scored 163 responses from 28 residents. The mean QIKAT-R score was 5.69 (SD 1.06). G-coefficient and Phi-coefficient were 0.65 and 0.60, respectively. Interrater reliability was fair for raters without QI expertise (intraclass correlation = 0.53, 95% CI 0.30 to 0.72) and acceptable for raters with QI expertise (intraclass correlation = 0.66, 95% CI 0.02 to 0.88). Postcourse scores were significantly higher than precourse scores (6.05, SD 1.48 vs 5.22, SD 1.5; p < 0.001). Sufficient reliability for formative assessment (G-coefficient > 0.60) could be achieved by three raters scoring six scenarios or two raters scoring eight scenarios, regardless of rater QI expertise. Conclusions Validity evidence was sufficient to support the use of the QIKAT-R with multiple scenarios and raters to assess resident QI knowledge application for formative or low-stakes summative purposes. The results provide practical information for educators to guide implementation decisions.

Abstract BACKGROUND Patients with persistent or recurrent Cushing disease (CD) after prior transsphenoidal surgery require further treatment to reduce the disease's metabolic consequences. OBJECTIVE To assess patient outcomes after stereotactic radiosurgery (SRS) for persistent or recurrent CD from adrenocorticotropin hormone (ACTH)-secreting pituitary adenomas and propose a management algorithm. METHODS Retrospective review of 38 patients without prior radiation treatment having SRS for ACTH-secreting pituitary adenomas from 1990 to 2015. Favorable outcome was defined as biochemical remission and tumor growth control. Patients were evaluated separately if they underwent bilateral adrenalectomy (Adx). RESULTS Twenty patients (53%) were treated with Adx and SRS (median margin dose, 25 Gy) and 18 patients (47%) received SRS alone (median margin dose, 22.5 Gy). Median follow-up after SRS was 76 mo. Of patients undergoing Adx, 18/20 (90%) had a favorable outcome. Two patients (10%) had tumor growth requiring additional treatment. A favorable outcome was achieved in 13/18 patients (72%) having SRS alone (median, 14 mo; interquartile range, 8-23). Five patients (28%) required additional treatment due to persistent hypercortisolemia (n = 4) or hypercortisolemia and tumor growth (n = 1). Favorable outcomes were more frequent in the Adx and SRS group at 1 yr (100% vs 33%; P < .001) and 3 yr (100% vs 62%; P < .01), but no different at 5 yr (88% vs 77%; P = .63). CONCLUSION SRS was effective for patients with persistent or recurrent CD. Patients with mild to moderate CD can be safely managed with SRS alone; patients with severe CD should be considered for Adx with either concurrent SRS or SRS performed at a later date if tumor growth occurs.

Abstract Context von Hippel-Lindau (VHL) disease, comprising renal cancer, hemangioblastoma, and/or pheochromocytoma (PHEO), is caused by missense or truncating variants of the VHL tumor-suppressor gene, which is involved in degradation of hypoxia-inducible factors (HIFs). However, the role of synonymous VHL variants in the disease is unclear. Objective We evaluated a synonymous VHL variant in patients with familial PHEO or VHL disease without a detectable pathogenic VHL mutation. Design We performed genetic and transcriptional analyses of leukocytes and/or tumors from affected and unaffected individuals and evaluated VHL splicing in existing cancer databases. Results We identified a synonymous VHL variant (c.414A>G, p.Pro138Pro) as the driver event in five independent individuals/families with PHEOs or VHL syndrome. This variant promotes exon 2 skipping and hence, abolishes expression of the full-length VHL transcript. Exon 2 spans the HIF-binding domain required for HIF degradation by VHL. Accordingly, PHEOs carrying this variant display HIF hyperactivation typical of VHL loss. Moreover, other exon 2 VHL variants from the The Cancer Genome Atlas pan-cancer datasets are biased toward expression of a VHL transcript that excludes this exon, supporting a broader impact of this spliced variant. Conclusion A recurrent synonymous VHL variant (c.414A>G, p.Pro138Pro) confers susceptibility to PHEO and VHL disease through splice disruption, leading to VHL dysfunction. This finding indicates that certain synonymous VHL variants may be clinically relevant and should be considered in genetic testing and surveillance settings. The observation that other coding VHL variants can exclude exon 2 suggests that dysregulated splicing may be an underappreciated mechanism in VHL-mediated tumorigenesis.

OBJECTIVES:Children with multiple complex chronic conditions (MCCs) represent a small fraction of our communities but a disproportionate amount of health care cost and mortality. Because the temporal trends of children with MCCs within a geographically well-defined US pediatric population has not been previously assessed, health care planning and policy for this vulnerable population is limited.METHODS:In this population-based, repeated cross-sectional study, we identified and enrolled all eligible children residing in Olmsted County, Minnesota, through the Rochester Epidemiology Project, a medical record linkage system of Olmsted County residents. The pediatric complex chronic conditions classification system version 2 was used to identify children with MCCs. Five-year period prevalence and incidence rates were calculated during the study period (1999–2014) and characterized by age, sex, ethnicity, and socioeconomic status (SES) by using the housing-based index of socioeconomic status, a validated individual housing-based SES index. Age-, sex-, and ethnicity-adjusted prevalence and incidence rates were calculated, adjusting to the 2010 US total pediatric population.RESULTS:Five-year prevalence and incidence rates of children with MCCs in Olmsted County increased from 1200 to 1938 per 100 000 persons and from 256 to 335 per 100 000 person-years, respectively, during the study period. MCCs tend to be slightly more prevalent among children with a lower SES and with a racial minority background.CONCLUSIONS:Both 5-year prevalence and incidence rates of children with MCCs have significantly increased over time, and health disparities are present among these children. The clinical and financial outcomes of children with MCCs need to be assessed for formulating suitable health care planning given limited resources.