Context: X-Linked hypophosphatemia (XLH) is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical presentation. Objective: The adult XLH disorder has yet to be quantified on the basis of the physical and functional limitations that can affect activities of daily living. Our goal was to report the impact of the musculoskeletal manifestations on physical function. Design and setting: Musculoskeletal function was evaluated by validated questionnaires and in an interdisciplinary clinical space where participants underwent full-body radiologic imaging, goniometric range of motion (ROM) measurements, general performance tests, and kinematic gait analysis. Patients: Nine adults younger than 60 years with a diagnosis of XLH and self-reported musculoskeletal disability, but able to independently ambulate, were selected to participate. Passive ROM and gait analysis were also performed on age-approximated controls to account for differences between individual laboratory instrumentation. Results: Enthesophytes, degenerative arthritis, and osteophytes were found to be consistently bilateral and diffusely present at the spine and synovial joints across participants, with predominance at weight-bearing joints. Passive ROM in adults with XLH was decreased at the cervical spine, hip, knee, and ankle compared to controls. Gait analysis relative to controls revealed increased step width, markedly increased lateral trunk sway, and physical restriction at the hip, knees, and ankle joints that translated into limitations through the gait cycle. Conclusions: The functional impact of XLH musculoskeletal comorbidities supports the necessity for creating an interprofessional health-care team with the goal of establishing a longitudinal plan of care that considers the manifestations of XLH across the lifespan.

• Administering the screening tool in an electronic format provides the best results. • 41.4% of households were at risk for food insecurity at this urban clinic. • Food insecurity risk can differ by ethnicity depending on population makeup. • Screening for households at risk for food insecurity is important. • Challenges to universal screening exist but there are solutions to overcoming them.

Previous studies indicate that topiramate reduces alcohol use among problem drinkers, with one study showing that the effect was moderated by a polymorphism (rs2832407) in GRIK1, the gene encoding the GluK1 kainate subunit. We examined whether the interactive effect of medication and genotype (1) altered the association between daily self‐efficacy and later‐day drinking; and (2) had an indirect effect on drinking via self‐efficacy. In a 12‐week, placebo‐controlled trial of topiramate, we used daily interactive voice response technology to measure self‐efficacy (i.e. confidence in avoiding heavy drinking later in the day) and drinking behavior in 122 European‐American heavy drinkers. Topiramate's effects on both self‐efficacy and drinking level were moderated by rs2832407. C‐allele homozygotes treated with topiramate showed higher levels of self‐efficacy and lower levels of nighttime drinking across the 12‐week trial. Further, the interactive effect of topiramate and genotype on mean nighttime drinking levels was mediated by mean levels of self‐efficacy. By modeling topiramate's effects on nighttime drinking across multiple levels of analysis, we found that self‐efficacy, a key psychologic construct, mediated the effect of topiramate, which was moderated by rs2832407 genotype. Thus, it may be possible to use an individualized assessment (i.e. genotype) to select treatment to optimize the reduction in heavy drinking and thereby provide a personalized treatment approach.

Background: We examined whether the effects of topiramate and a single nucleotide polymorphism (rs2832407) in GRIK1, which encodes a kainate receptor subunit, persisted following a 12‐week, placebo‐controlled trial in 138 heavy drinkers with a treatment goal of reduced drinking. During treatment, topiramate 200 mg/d significantly reduced heavy drinking days and increased the frequency of abstinent days (Am J Psychiatry, 2014, 171:445). In the European‐American (EA) subsample (n = 122), rs2832407 moderated the treatment effect on heavy drinking.Methods: Patients were re‐interviewed 3 and 6 months after the end of treatment. During treatment, we obtained 92.4% of drinking data, with 89.1 and 85.5% complete data at the 3‐ and 6‐month follow‐up visits, respectively. We examined 4 outcomes over time in the overall sample and the EA subsample: percent heavy drinking days (PHDD), percent days abstinent (PDA), serum γ‐glutamyl transpeptidase (GGTP) concentration, and a measure of alcohol‐related problems.Results: In the full sample, the lower PHDD and higher PDA seen with topiramate treatment were no longer significant during follow‐up. Nonetheless, the topiramate‐treated patients had lower alcohol‐related problem scores during treatment and both follow‐up periods. Further, in the EA subsample, the greater reduction in PHDD seen with topiramate treatment in rs2832407*C‐allele homozygotes persisted throughout follow‐up, with no significant effects in A‐allele carriers. A reduction in GGTP concentration was consistent with the reduction in heavy drinking, but did not reach statistical significance.Conclusions: There are persistent therapeutic effects of topiramate in heavy drinkers, principally in rs2832407*C‐allele homozygotes.