Phenotype Characterization of HD Intermediate Alleles in PREDICT-HD

BACKGROUND: Huntington disease (HD) is a neurodegenerative disease caused by a CAG repeat expansion on chromosome 4. Pathology is associated with CAG repeat length. Prior studies examining people in the intermediate allele (IA) range found subtle differences in motor, cognitive, and behavioral domains compared to controls. OBJECTIVE: The purpose of this study was to examine baseline and longitudinal differences in motor, cognitive, behavioral, functional, and imaging outcomes between persons with CAG repeats in three ranges: normal (≤26), intermediate (27-35), and reduced penetrance (36-39). METHODS: We examined longitudinal data from 389 participants in three allele groups: 280 normal controls (NC), 21 intermediate allele [IA], and 88 reduced penetrance [RP]. We used linear mixed models to identify differences in baseline and longitudinal outcomes between groups. Three models were tested: 1) no baseline or longitudinal differences; 2) baseline differences but no longitudinal differences; and 3) baseline and longitudinal differences. RESULTS: Model 1 was the best fitting model for most outcome variables. Models 2 and 3 were best fitting for some of the variables. We found baseline and longitudinal trends of declining performance across increasing CAG repeat length groups, but no significant differences between the NC and IA groups. CONCLUSION: We did not find evidence to support differences in the IA group compared to the NC group. These findings are limited by a small IA sample size

Let there be light! Using alternate light sources to detect and improve cutaneous bruise visibility

Victims of violence have latent cutaneous bruises due to skin color, injury age, or depth. A randomized controlled trial measured the effectiveness of alternate light sources in improving visibility over white light, while exploring effects of skin color, gender, localized fat/muscles, bruise size and color on specific wavelengths over time

Relationships Among Stress Measures, Risk Factors, and Inflammatory Biomarkers in Law Enforcement Officers

Law enforcement officers suffer higher morbidity and mortality rates from all causes than the general population. Cardiovascular disease (CVD) accounts for a significant portion of the excess illness, with a reported prevalence as high as 1.7 times that of the general population. To determine which occupational hazards cause this increased risk and morbidity, it is imperative to study law enforcement officers before they retire. The long-range goal of our research is to reduce the incidence of CVD-related illness and death among aging law enforcement officers. The purpose of the present study was to measure pro- and anti-atherogenic inflammatory markers in blood samples from law enforcement officers (n = 71) and determine what types of occupation-related stress correlate with differences in these markers. For each outcome variable of interest, we developed separate regression models. Two groups of potential predictors were examined for inclusion in the models. Selected measures of stress were examined for inclusion in the models, in addition to general covariates, such as gender, ethnicity, years in law enforcement, and body mass index. Our results revealed statistically significant relationships between several physiologic variables and measures of stress

Mental Illness as a Vulnerability for Sexual Assault: A Retrospective Study of 7,455 Sexual Assault Forensic Medical Examinations

Background: Persons with severe mental illness (MI) are at a high risk of becoming victims of sexual assault (SA). Vulnerability for SA with any type of MI is unknown. This study aimed to identify the prevalence of preexisting MI and other significant factors in patients reporting preexisting MI at the time of their SA medical forensic examinations (SAMFEs). Method: A retrospective SAMFE chart review of patients ( N = 7,455) from 2010 to 2020 was conducted. Sexual assault nurse examiners completed SAMFEs. Inclusion criteria included (a) aged 14 years and older, (b) completed SAMFE with SA kit evidence collection, and (c) reported to law enforcement (restricted cases not included). Descriptive statistics and chi-square analyses were completed. Findings: It was found that 46.7% of study participants reported preexisting MI and/or current use of psychotropic medications, more than double the MI prevalence rates in the general population. MI in patients seen for SAMFE was associated with prior history of SA, medical health problems, and physical or mental impairment. In addition, patients with MI reported more violent SAs with increased anogenital and nonanogenital injuries. Discussion: The high prevalence rate of any MI in patients seen for SAMFE indicates MI in varying severity is a significant vulnerability for SA. The association of preexisting MI with a history of SA, health problems, and physical or mental impairment expands understanding of associated MI factors. These findings support the development of interventions by healthcare providers and stakeholders to address SA vulnerabilities in individuals with MI

Factors Associated With End-of-Life Planning in Huntington Disease.

OBJECTIVE: Knowledge of one\u27s gene status for adult onset conditions provides opportunity to make advance end-of-life (EOL) plans. The purposes of these analyses were to (1) determine the prevalence of EOL plans, including advance directives (ADs) among persons across 3 stages of Huntington disease (HD) and (2) examine factors associated with having ADs in this sample. METHODS: Data are from 503 participants in the HD Quality of Life study. Participants completed an online health-related quality-of-life survey that included questions regarding EOL planning and self-reported HD symptoms. Frequencies were calculated for EOL planning by the HD stage. Bivariate analysis and logistic regression were used to identify variables associated with having ADs. RESULTS: A total of 38.2% of participants stated they had ADs and fewer than half had other EOL plans. Being older, increased HD stage, more years of education, lower anxiety, more swallowing symptoms, and higher meaning and purpose were associated with having ADs. CONCLUSION: The prevalence of ADs in our sample is comparable to the general US population, but surprisingly low, considering the severity and long disease course of HD. PRACTICE IMPLICATIONS: Health-care providers should develop specific interventions early in the disease process to increase ADs in this population

Rural Versus Urban Prevalence of Intimate Partner Violence-Related Emergency Department Visits, 2009-2014

Intimate partner violence (IPV) includes physical violence, sexual violence, stalking, psychological aggression, and reproductive control by a current or former boyfriend or girlfriend, domestic partner, or spouse. IPV is a major public health issue that adversely impacts physical and mental health and quality of lifeThis retrospective study examines the prevalence of IPV-related emergency department (ED) visits by rural and urban status and U.S. census regions using discharge data from the National Emergency Department Sample. Key findings indicate IPV-related ED visits among patients ages 15-64 were higher in rural versus urban areas in all regions except the Midwest. Women ages 15-64 represented 93% of IPV-related ED visits in urban areas compared to 95% in rural areas. Both rural men and women admitted to the ED with an IPV-related diagnosis were more likely to be in the lower half of the income distribution and to have public health insurance than their urban counterparts.Federal Office of Rural Health Policy (FORHP), Heath Resources and Service Administration (HRSA

The Impact of Accelerating Land-Use Change on the N-Cycle of Tropical Aquatic Ecosystems: Current Conditions and Projected Changes

Published data and analyses from temperate and tropical aquatic systems are used to summarize knowledge about the potential impact of land-use alteration on the nitrogen biogeochemistry of tropical aquatic ecosystems, identify important patterns and recommend key needs for research. The tropical N-cycle is traced from pre-disturbance conditions through the phases of disturbance, highlighting major differences between tropical and temperate systems that might influence development strategies in the tropics. Analyses suggest that tropical freshwaters are more frequently N-limited than temperate zones, while tropical marine systems may show more frequent P limitation. These analyses indicate that disturbances to pristine tropical lands will lead to greatly increased primary production in freshwaters and large changes in tropical freshwater communities. Increased freshwater nutrient flux will also lead to an expansion of the high production, N- and light-limited zones around river deltas, a switch from P- to N-limitation in calcareous marine systems, with large changes in the community composition of fragile mangrove and reef systems. Key information gaps are highlighted, including data on mechanisms of nutrient transport and atmospheric deposition in the tropics, nutrient and material retention capacities of tropical impoundments, and N/P coupling and stoichiometric impacts of nutrient supplies on tropical aquatic communities. The current base of biogeochemical data suggests that alterations in the N-cycle will have greater impacts on tropical aquatic ecosystems than those already observed in the temperate zone

Evaluating Cognition in Individuals with Huntington Disease: NeuroQoL Cognitive Functioning Measures

PURPOSE: Cognitive functioning impacts health-related quality of life (HRQOL) for individuals with Huntington disease (HD). The Neuro-QoL includes two patient-reported outcome (PRO) measures of cognition-Executive Function (EF) and General Concerns (GC). These measures have not previously been validated for use in HD. The purpose of this analysis is to evaluate the reliability and validity of the Neuro-QoL Cognitive Function measures for use in HD. METHODS: Five hundred ten individuals with prodromal or manifest HD completed the Neuro-QoL Cognition measures, two other PRO measures of HRQOL (WHODAS 2.0 and EQ5D), and a depression measure (PROMIS Depression). Measures of functioning The Total Functional Capacity and behavior (Problem Behaviors Assessment) were completed by clinician interview. Objective measures of cognition were obtained using clinician-administered Symbol Digit Modalities Test and the Stroop Test (Word, Color, and Interference). Self-rated, clinician-rated, and objective composite scores were developed. We examined the Neuro-QoL measures for reliability, convergent validity, discriminant validity, and known-groups validity. RESULTS: Excellent reliabilities (Cronbach\u27s alphas ≥ 0.94) were found. Convergent validity was supported, with strong relationships between self-reported measures of cognition. Discriminant validity was supported by less robust correlations between self-reported cognition and other constructs. Prodromal participants reported fewer cognitive problems than manifest groups, and early-stage HD participants reported fewer problems than late-stage HD participants. CONCLUSIONS: The Neuro-QoL Cognition measures provide reliable and valid assessments of self-reported cognitive functioning for individuals with HD. Findings support the utility of these measures for assessing self-reported cognition

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