Genetic factors are important determinants of impaired growth after infant cardiac surgery

ObjectivesWe sought to estimate the prevalence and identify the predictors of impaired growth after infant cardiac surgery.MethodsWe performed a secondary analysis of a prospective study of the role of apolipoprotein E gene polymorphisms on neurodevelopment in young children after infant cardiac surgery. Prevalence estimates for growth velocity were derived by using anthropometric measures (weight and head circumference) obtained at birth and at 4 years of age. Genetic evaluation was also performed. Growth measure z scores were calculated by using World Health Organization Child Growth Standards. Growth velocity was evaluated by using 2 different techniques: first by clustering the children into one of 3 growth velocity subgroups based on z scores (impaired growth, difference < −0.5 standard deviation; stable growth, difference of −0.5 to 0.5 standard deviation; and improving growth, difference > 0.5 SD) and second by using continuous difference scores. Statistical analyses were conducted with a combination of proportional odds models for the ordered categories and simple linear regression for the continuous outcomes.ResultsThree hundred nineteen full-term subjects had complete anthropometric measures for weight and head circumference at birth and 4 years. The cohort was 56% male. Genetic examinations were available for 97% (309/319) of the cohort (normal, 74%; definite or suspected genetic abnormality, 26%). Frequency counts for weight categories were as follows: impaired growth, 37%; stable growth, 31%; and improving growth, 32%. Frequency counts for head circumference categories were as follows: impaired growth, 39%; stable growth, 28%; and improving growth, 33%. The presence of a definite or suspected genetic syndrome (P = .04) was found to be a predictor of impaired growth for weight but not for head circumference. When growth z scores were used as continuous outcomes, the apolipoprotein E ε2 allele was found to be predictive of lower z scores for both weight (P = .02) and head circumference (P = .03).ConclusionsImpaired growth for both weight and head circumference is common (both >30%) in this cohort of children after infant cardiac surgery. Both the apolipoprotein E ε2 allele and the presence of a definite or suspected genetic syndrome were associated with impaired weight growth velocity. The apolipoprotein E ε2 allele was also associated with impaired growth velocity for head circumference. Persistent poor growth might have long-term implications for the health and development of children with congenital heart defects

WHODAS 2.0 in prodromal Huntington disease : measures of functioning in neuropsychiatric disease

We thank the PREDICT-HD sites, the study participants, the National Research Roster for Huntington Disease Patients and Families, the Huntington’s Disease Society of America and the Huntington Study Group. This research was supported by the National Center for Advancing Translational Sciences, and the National Institutes of Health (NIH), through Grant 2 UL1 TR000442-06. This research is supported by the National Institutes of Health, National Institute of Neurological Disorders and Stroke (NS040068), CHDI Foundation, Inc (A3917), Cognitive and Functional Brain Changes in Preclinical Huntington’s Disease (HD) (5R01NS054893), 4D Shape Analysis for Modeling Spatiotemporal Change Trajectories in Huntington’s (1U01NS082086), Functional Connectivity in Pre-manifest Huntington’s Disease (1U01NS082083), and Basal Ganglia Shape Analysis and Circuitry in Huntington’s Disease (1U01NS082085).Peer reviewedPublisher PD

Using a collaborative learning health system approach to improve disease activity outcomes in children with juvenile idiopathic arthritis in the Pediatric Rheumatology Care and Outcomes Improvement Network

IntroductionThe Pediatric Rheumatology Care and Outcomes Improvement Network (PR-COIN) is a North American learning health network focused on improving outcomes of children with juvenile idiopathic arthritis (JIA). JIA is a chronic autoimmune disease that can lead to morbidity related to persistent joint and ocular inflammation. PR-COIN has a shared patient registry that tracks twenty quality measures including ten outcome measures of which six are related to disease activity. The network's global aim, set in 2021, was to increase the percent of patients with oligoarticular or polyarticular JIA that had an inactive or low disease activity state from 76% to 80% by the end of 2023.MethodsTwenty-three hospitals participate in PR-COIN, with over 7,200 active patients with JIA. The disease activity outcome measures include active joint count, physician global assessment of disease activity, and measures related to validated composite disease activity scoring systems including inactive or low disease activity by the 10-joint clinical Juvenile Arthritis Disease Activity Score (cJADAS10), inactive or low disease activity by cJADAS10 at 6 months post-diagnosis, mean cJADAS10 score, and the American College of Rheumatology (ACR) provisional criteria for clinical inactive disease. Data is collated to measure network performance, which is displayed on run and control charts. Network-wide interventions have included pre-visit planning, shared decision making, self-management support, population health management, and utilizing a Treat to Target approach to care.ResultsFive outcome measures related to disease activity have demonstrated significant improvement over time. The percent of patients with inactive or low disease activity by cJADAS10 surpassed our goal with current network performance at 81%. Clinical inactive disease by ACR provisional criteria improved from 46% to 60%. The mean cJADAS10 score decreased from 4.3 to 2.6, and the mean active joint count declined from 1.5 to 0.7. Mean physician global assessment of disease activity significantly improved from 1 to 0.6.ConclusionsPR-COIN has shown significant improvement in disease activity metrics for patients with JIA. The network will continue to work on both site-specific and collaborative efforts to improve outcomes for children with JIA with attention to health equity, severity adjustment, and data quality

Seed Bank Changes with Time-Since-Fire In Florida Rosemary Scrub

The soil seed bank plays a central role in the regeneration of obligate seeding species in fire-prone habitats. We evaluated how seed density and species composition changed with time-since-fire in the Florida, USA, rosemary scrub community. Because fire affects habitat availability and plant demographic variation, we predicted that soil seed density would be low in recently burned and long-unburned stands and high at intermediate time-since-fire. Seed bank soil samples were collected from a chronosequence of time-since-fire composited from two trials conducted in 1992-1993 and 2008-2009: two sites each of 3, 6, 10, and 24 years post-fire, and 3 long-unburned (similar to 67 years) sites. The seedling emergence method was used to determine species composition of the seed bank. Across all time-since-fire age classes, herbaceous species dominated the seed bank, while long-lived subshrubs and shrubs were present in low densities. Seed banks from sites three years post-fire were distinct from the other sites. When species were sorted as functional groups, seed density was related with time-since-fire for subshrubs and ruderal herbs, but not for scrub herbs and graminoids. Subshrubs and ruderal herbs had highest seed densities in recently burned stands. Seed densities of Florida rosemary (Ceratiola ericoides Michx.) (the major obligate seeding shrub in this community) were associated with time-since-fire and showed highest densities at recently burned and long-unburned sites. The seed banks of two scrub herb species, paper nailwort (Paronychia chartacea Fernald) and nodding pinweed (Lechea cernua Small), were associated with time-since-fire. They reached peaks in density in the first ten years post-fire, corresponding with similar changes in their aboveground abundances with time-since-fire. Soil seed densities of several species and functional groups were associated with time-since-fire, but timing of peak seed density varied depending on species\u27 life span and age of reproductive maturity

A 17 year old with isolated proximal tibiofibular joint arthritis

Abstract The proximal tibiofibular joint (TFJ) is rarely affected in rheumatic diseases, and we frequently interpret pain of the lateral knee as the result of overuse or trauma. Nonetheless, the TFJ is a synovial joint that communicates with the tibiofemoral joint in a proportion of patients. While proximal TFJ arthritis has been rarely associated with existing spondyloarthritis, isolated TFJ arthritis as the presenting manifestation of spondyloarthritis has not yet been described. Here, we report the clinical and radiographic presentation of an adolescent with chronic proximal TFJ arthritis heralding spondyloarthritis highly suggestive of ankylosing spondylitis.</p