Hypermethylation of Is Associated With Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families.

Background: Carotid intima-media thickness (IMT) is a measure of atherosclerosis and a predictor of vascular diseases. Traditional vascular risk factors and genetic variants do not completely explain the variation in carotid IMT. We sought to identify epigenetic factors that may contribute to the remaining carotid IMT variability.

Diverse ancestry GWAS for advanced age-related macular degeneration in TOPMed-imputed and Ophthalmologically-confirmed 16,108 cases and 18,038 controls.

Age-related macular degeneration (AMD) is a leading cause of blindness with $344 billion dollars global costs. In 2016, the International Age-related Macular Degeneration Genomics Consortium devised genomic data on ∼50,000 individuals (IAMDGC 1.0) and identified 52 variants across 34 loci associated with advanced AMD in European ancestry.

Exploring the potential role of financial interventions to improve the health of families impacted by incarceration.

Purpose Of Review: To summarize the impact of financial hardship on children whose parents have been incarcerated, describe both existing cash transfer and guaranteed income programs, and highlight their impact on child and family well being.

Recent Findings: Emerging data on guaranteed income programs for formerly incarcerated adults indicates that the funds improve recipient health and legal system outcomes and allow participants to spend funds on stabilizing themselves and their families. Guaranteed income programs in the broader population similarly highlight the use of funds to support families' basic needs and improved parent-child relationships, but more data are needed to understand the impact on child health and well being among families impacted by the criminal legal system.

Parent experiences with genetic testing for pediatric hearing loss.

The purpose of the current study was to assess parent perceptions and experiences of genetic testing, as well as barriers for not undergoing testing in a sample of families of children with hearing loss. A 44-item questionnaire, The Parent Perception of Genetic Testing Questionnaire developed by the research study team was administered. Participants were recruited from a pediatric otolaryngology/audiology practice and social media.

Interpreting Variations in Fugl-Meyer Assessment Protocols: Results and Recommendations From a Nominal Group Consensus Process.

Objective: To identify variations among administration and scoring instructions of 6 upper extremity Fugl-Meyer Assessment (FMA-UE) protocols and to achieve consensus regarding optimal administration procedures.

Design: Nominal group consensus technique comprised of iterative independent reviews of protocol content, anonymous voting, and group consensus meetings.

Setting: Clinicians working in clinical practice and research settings participated in virtual meetings via Zoom.

Identifying X-chromosome variants associated with age-related macular degeneration.

Purpose: In genome-wide association studies (GWAS), X chromosome (ChrX) variants are often not investigated. Sex-specific effects and ChrX-specific quality control (QC) are needed to examine these effects. Previous GWAS identified 52 autosomal variants associated with age-related macular degeneration (AMD) via the International AMD Genomics Consortium (IAMDGC), but did not analyze ChrX.

The role of sirtuins and uncoupling proteins on vascular aging: The Northern Manhattan Study experience.

Aging affects all organs. Arteries, in particular, are among the most affected. Vascular aging (VA) is defined as age-associated changes in function and structure of vessels.

Kinetic Phenomena in Mechanochemical Depolymerization of Poly(styrene).

Synthetic polyolefinic plastics comprise one of the largest shares of global plastic waste, which is being targeted for chemical recycling by depolymerization to monomers and small molecules. One promising method of chemical recycling is solid-state depolymerization under ambient conditions in a ball-mill reactor. In this paper, we elucidate kinetic phenomena in the mechanochemical depolymerization of poly(styrene).

Evaluation of a carepartner-integrated telehealth gait rehabilitation program for persons with stroke: study protocol for a feasibility study.

Background: Despite family carepartners of individuals post-stroke experiencing high levels of strain and reduced quality of life, stroke rehabilitation interventions rarely address carepartner well-being or offer training to support their engagement in therapeutic activities. Our group has developed creative intervention approaches to support families during stroke recovery, thereby improving physical and psychosocial outcomes for both carepartners and stroke survivors. The purpose of this study is to test the feasibility of an adapted, home-based intervention (Carepartner Collaborative Integrative Therapy for Gait-CARE-CITE-Gait) designed to facilitate positive carepartner involvement during home-based training targeting gait and mobility.

Dispersed DNA variants underlie hearing loss in South Florida's minority population.

Background: We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary Hearing Loss Clinic at the University of Miami. In our retrospective chart review, of these patients, half self-identified as Hispanic, and the self-identified racial distribution was 115 (86%) White, 15 (11%) Black, and 6 (4%) Asian. Our analysis helps to reduce the gap in understanding the prevalence, impact, and genetic factors related to hearing loss among diverse populations.

Neighborhood socioeconomic disadvantage measures in rehabilitation clinical trials: Lessons learned in recruitment.

Purpose: The Area Deprivation Index (ADI) measures the relative disadvantage of an individual or social network using US Census indicators. Although a strong re-hospitalization predictor, ADI has not been routinely incorporated into rehabilitation research. The purposes of this paper are to examine the use of ADI related to study recruitment, association with carepartner psychosocial factors, and recruitment strategies to increase participant diversity.

Identifying X-Chromosome Variants Associated with Age-Related Macular Degeneration.

Purpose: In genome-wide association studies (GWAS), X chromosome (ChrX) variants are often not investigated. Sex-specific effects and ChrX-specific quality control (QC) are needed to examine these effects. Previous analyses identified 52 autosomal variants associated with age-related macular degeneration (AMD) via the International AMD Genomics Consortium (IAMDGC), but did not analyze ChrX.

Remote Delivery of the Fugl-Meyer Assessment for the Upper Extremity: A Pilot Study to Assess Feasibility, Reliability, and Validity.

Objective: To develop a remote protocol for the upper extremity Fugl-Meyer Assessment (reFMA) and assess the reliability and validity with in-person delivery.

Design: Feasibility testing.

Setting: Remote/virtual and in-person in participants' homes.

Implementing Home-Based Clinical Research for Caregivers and Persons with Stroke: Lessons Learned.

Conducting research in the home environment presents challenges related to setting, study participants, methods, and researchers. Researchers should be aware of potential challenges to ensure rigor and improve planning for future studies. This paper describes difficulties experienced and lessons learned when conducting a two-group, randomized pilot study (n = 32) of a web-based intervention (Carepartner and Constraint-Induced Therapy [CARE-CITE]) designed to foster positive carepartner engagement in home-based activities to improve upper extremity function in persons with stroke.

Evaluation of a Carepartner-Integrated Telehealth Gait Rehabilitation Program for Persons with Stroke : Study Protocol for a Feasibility Study.

Background: Despite family carepartners of individuals post-stroke experiencing high levels of strain and reduced quality of life, stroke rehabilitation interventions rarely address carepartner well-being or offer training to support their engagement in therapeutic activities. Our group has developed creative intervention approaches to support families during stroke recovery, thereby improving physical and psychosocial outcomes for both carepartners and stroke survivors. The purpose of this preliminary clinical trial is to test the feasibility of an adapted, home-based intervention (Carepartner Collaborative Integrative Therapy for Gait-CARE-CITE-Gait) designed to facilitate positive carepartner involvement during home-based training targeting gait and mobility.

Preimplantation genetic testing for hereditary hearing loss in Chinese population.

Purpose: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.

Methods: A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequencing run was implemented. Forty-three couples carried pathogenic variants in autosomal recessive non-syndromic HL genes, GJB2 and SLC26A4, and four couples carried pathogenic variants in rare HL genes: KCNQ4, PTPN11, PAX3, and USH2A were enrolled.

Genome-wide association study of executive function in a multi-ethnic cohort implicates LINC01362: Results from the northern Manhattan study.

Executive function is a cognitive domain with sizable heritability representing higher-order cognitive abilities. Genome-wide association studies (GWAS) of executive function are sparse, particularly in populations underrepresented in medical research. We performed a GWAS on a composite measure of executive function that included measures of mental flexibility and reasoning using data from the Northern Manhattan Study, a racially and ethnically diverse cohort (N = 1077, 69% Hispanic, 17% non-Hispanic Black and 14% non-Hispanic White).