Genetic associations with childhood brain growth, defined in two longitudinal cohorts

Genome-wide association studies (GWASs) are unraveling the genetics of adult brain neuroanatomy as measured by cross-sectional anatomic magnetic resonance imaging (aMRI). However, the genetic mechanisms that shape childhood brain development are, as yet, largely unexplored. In this study we identify common genetic variants associated with childhood brain development as defined by longitudinal aMRI. Genome-wide single nucleotide polymorphism (SNP) data were determined in two cohorts: one enriched for attention-deficit/hyperactivity disorder (ADHD) (LONG cohort: 458 participants; 119 with ADHD) and the other from a population-based cohort (Generation R: 257 participants). The growth of the brain's major regions (cerebral cortex, white matter, basal ganglia, and cerebellum) and one region of interest (the right lateral prefrontal cortex) were defined on all individuals from two aMRIs, and a GWAS and a pathway analysis were performed. In addition, association between polygenic risk for ADHD and brain growth was determined for the LONG cohort. For white matter growth, GWAS meta-analysis identified a genome-wide significant intergenic SNP (rs12386571, P = 9.09 × 10-9 ), near AKR1B10. This gene is part of the aldo-keto reductase superfamily and shows neural expression. No enrichment of neural pathways was detected and polygenic risk for ADHD was not associated with the brain growth phenotypes in the LONG cohort that was enriched for the diagnosis of ADHD. The study illustrates the use of a novel brain growth phenotype defined in vivo for further study

The prevalence of cubital tunnel syndrome: A cross-sectional study in a U.S. metropolitan cohort

BACKGROUND: Although cubital tunnel syndrome is the second most common peripheral mononeuropathy (after carpal tunnel syndrome) encountered in clinical practice, its prevalence in the population is unknown. The objective of this study was to evaluate the prevalence of cubital tunnel syndrome in the general population. METHODS: We surveyed a cohort of adult residents of the St. Louis metropolitan area to assess for the severity and localization of hand symptoms using the Boston Carpal Tunnel Questionnaire Symptom Severity Scale (BCTQ-SSS) and the Katz hand diagram. We identified subjects who met our case definitions for cubital tunnel syndrome and carpal tunnel syndrome: self-reported hand symptoms associated with a BCTQ-SSS score of >2 and localization of symptoms to the ulnar nerve or median nerve distributions. RESULTS: Of 1,001 individuals who participated in the cross-sectional survey, 75% were women and 79% of the cohort was white; the mean age (and standard deviation) was 46 ± 15.7 years. Using a more sensitive case definition (lax criteria), we identified 59 subjects (5.9%) with cubital tunnel syndrome and 68 subjects (6.8%) with carpal tunnel syndrome. Using a more specific case definition (strict criteria), we identified 18 subjects (1.8%) with cubital tunnel syndrome and 27 subjects (2.7%) with carpal tunnel syndrome. CONCLUSIONS: The prevalence of cubital tunnel syndrome in the general population may be higher than that reported previously. When compared with previous estimates of disease burden, the active surveillance technique used in this study may account for the higher reported prevalence. This finding suggests that a proportion of symptomatic subjects may not self-identify and may not seek medical treatment. CLINICAL RELEVANCE: This baseline estimate of prevalence for cubital tunnel syndrome provides a valuable reference for future diagnostic and prognostic study research and for the development of clinical practice guidelines

A novel patient engagement platform using accessible text messages and calls (Epharmix): Feasibility study

BACKGROUND: Patient noncompliance with therapy, treatments, and appointments represents a significant barrier to improving health care delivery and reducing the cost of care. One method to improve therapeutic adherence is to improve feedback loops in getting clinically acute events and issues to the relevant clinical providers as necessary (ranging from detecting hypoglycemic events for patients with diabetes to notifying the provider when patients are out of medications). Patients often don\u27t know which information should prompt a call to their physician and proactive checks by the clinics themselves can be very resource intensive. We hypothesized that a two-way SMS system combined with a platform web service for providers would enable both high patient engagement but also the ability to detect relevant clinical alerts. OBJECTIVE: The objectives of this study are to develop a feasible two-way automated SMS/phone call + web service platform for patient-provider communication, and then study the feasibility and acceptability of the Epharmix platform. First, we report utilization rates over the course of the first 18 months of operation including total identified clinically significant events, and second, review results of patient user-satisfaction surveys for interventions for patients with diabetes, COPD, congestive heart failure, hypertension, surgical site infections, and breastfeeding difficulties. METHODS: To test this question, we developed a web service + SMS/phone infrastructure ( Epharmix ). Utilization results were measured based on the total number of text messages or calls sent and received, with percentage engagement defined as a patient responding to a text message at least once in a given week, including the number of clinically significant alerts generated. User satisfaction surveys were sent once per month over the 18 months to measure satisfaction with the system, frequency and degree of communication. Descriptive statistics were used to describe the above information. RESULTS: In total, 28,386 text messages and 24,017 calls were sent to 929 patients over 9 months. Patients responded to 80% to 90% of messages allowing the system to detect 1164 clinically significant events. Patients reported increased satisfaction and communication with their provider. Epharmix increased the number of patient-provider interactions to over 10 on average in any given month for patients with diabetes, COPD, congestive heart failure, hypertension, surgical site infections, and breastfeeding difficulties. CONCLUSIONS: Engaging high-risk patients remains a difficult process that may be improved through novel, digital health interventions. The Epharmix platform enables increased patient engagement with very low risk to improve clinical outcomes. We demonstrated that engagement among high-risk populations is possible when health care comes conveniently to where they are

Wii Controlled Gaming for Physical Therapy

From the Washington University Senior Honors Thesis Abstracts (WUSHTA), Volume 3, Spring 2011. Published by the Office of Undergraduate Research. Henry Biggs, Director, Office of Undergraduate Research / Associate Dean, College of Arts & Sciences; Joy Zalis Kiefer, Office of Undergraduate Research / Assistant Dean in the College of Arts & Sciences; E. Holly Tasker, Editor; Kristin Sobotka, Undergraduate Research Coordinator. Mentor: Jack Engsber

Impact of Asymptomatic Flatfoot on Clinical and Radiographic Outcomes of the Modified Lapidus Procedure in Patients With Hallux Valgus

Background: Patients with hallux valgus commonly present with concomitant flatfoot deformity. First-ray hypermobility, among other biomechanical factors, has been suggested as a potential link between these deformities. However, not all hallux valgus patients exhibit symptoms associated with flatfoot deformity, and the necessity of correcting the asymptomatic flatfoot at the time of hallux valgus correction is unclear. We aimed to investigate the relationship between asymptomatic flatfoot and patient-reported and radiographic outcomes after the Lapidus procedure. Methods: This study included 142 patients who underwent the Lapidus procedure for hallux valgus at a single institution. Sixty-one patients met radiographic criteria for flatfoot. No patients exhibited symptoms related to flatfoot deformity on review of clinical notes. Preoperative, minimum 1-year postoperative, and change in Patient-Reported Outcomes Measurement Information System (PROMIS) scores between asymptomatic flatfoot and control groups were compared. Radiographic outcomes including hallux valgus angle (HVA), intermetatarsal angle (IMA), Meary angle, talonavicular coverage angle (TNCA), and calcaneal pitch (CP) were compared. Results: Preoperatively, the flatfoot group had higher BMI 22.6 vs 24.6 ( P < .01) and IMA 15.32 vs 14.0 degrees ( P < .05). Both groups demonstrated preoperative to postoperative improvement in PROMIS physical function ( P < .01), pain interference ( P < .001), pain intensity ( P < .001), and global physical health ( P < .001). There were no preoperative or postoperative differences in PROMIS scores between groups. Postoperatively, there were no differences in HVA or IMA between groups; however, the flatfoot group exhibited greater deformity in Meary angle, TNCA, and CP (all P < .001). Conclusion: There were no significant postoperative differences in patient-reported outcomes of the Lapidus procedure between patients with and without asymptomatic flatfoot, and both groups achieved similar radiographic correction of their hallux valgus deformity. The Lapidus procedure appears to be a reasonable surgical option for hallux valgus correction in patients with asymptomatic flatfoot deformity. Level of Evidence: Level III, retrospective cohort study

Clinical Outcomes and Rotational Correction of First Metatarso-Cuneiform Fusion With First Metatarsal to Second Cuneiform Fixation

Background: The modified Lapidus procedure (first metatarso-cuneiform fusion) is a powerful technique for correcting triplanar deformity in hallux valgus. Although traditionally fixed with cross-screws (CS), growing awareness of intercuneiform stability and pronation deformity has led to fixation using a plate and first metatarsal–second cuneiform (1MT-2C) screw fixation (PS). We investigated Lapidus patient cohorts using CS vs PS fixation to understand patient-reported outcomes, angular and rotational correction, and complication rates. Methods: We retrospectively reviewed cases of modified Lapidus for hallux valgus by a single surgeon. Patients were divided into CS or PS groups according to fixation. All patients had preoperative Patient Reported Outcome Measurement Information System (PROMIS) scores and minimum 12 months of follow-up. PROMIS scores in 6 key domains were compared within and between groups. Radiographic assessment of hallux valgus angle and intermetatarsal angle were performed on pre- and postoperative XR. Pronation of the first ray was measured on pre- and postoperative weightbearing computed tomography. Results: We compared 42 patients with PS fixation to 43 with CS fixation. Both groups had significant improvement in hallux valgus angle and intermetatarsal angle ( P < .001), with no difference between groups. PS patients experienced a greater correction of first metatarsal pronation, an average reduction of 11 degrees, compared to 8 degrees in the CS group ( P < .039). Both cohorts experienced improvement in PROMIS physical function, pain interference, pain intensity, and global physical function. There were no differences in PROMIS score improvements between the cohorts. The CS group started weightbearing at 6 weeks vs 3.6 weeks for the PS group. Complication and revision rates were similar. Conclusion: A plate and 1MT-2C screw fixation provides safe, robust fixation of Lapidus procedure and prevents instability through the intercuneiform joint. We observed similar improvement in PROMIS compared with patients treated with cross-screws. Complications did not increase despite the PS group weightbearing much earlier. PS patients achieved greater first ray rotational correction. Level of Evidence: Level III, retrospective cohort study