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1.
Am J Med Genet A ; 194(8): e63613, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38545882

ABSTRACT

Hypermobile Ehlers-Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and overall well-being. Previous studies have revealed that healthcare professionals and the public have a limited understanding and familiarity with the condition, which leads to disapproval and skepticism that greatly impact patients' social spheres and welfare. While physical manifestations have been widely discussed, the psychosocial impact and the importance of receiving a diagnosis have not been fully studied in the current literature. This survey study investigated the impact of diagnosis in hEDS patients, selected from the University of Miami's hEDS registry. Survey questions were formulated based on clinical expertise and literature review. Descriptive statistics, Mann-Whitney test, and Spearman's correlation were used for data analysis. The median age at symptom presentation was 10 years, with a median gap of 4 years before the initial medical evaluation. On average, it took 10 years to receive a diagnosis of hEDS. Nearly all participants (95.2%) expressed receiving a diagnosis as "important" or "highly important," with 81.9% agreeing that it helped them cope with their condition better, 76.8% could better manage their symptoms, and felt more in control of their long-term care. Participants mostly had a positive emotional reaction and experienced an improvement in the support they were receiving from their caregivers and healthcare providers after receiving a diagnosis of hEDS. This study demonstrates that receiving a diagnosis could positively impact the patient's support, quality of care, and overall well-being.


Subject(s)
Ehlers-Danlos Syndrome , Quality of Life , Humans , Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/psychology , Ehlers-Danlos Syndrome/epidemiology , Female , Male , Adult , Surveys and Questionnaires , Adolescent , Child , Young Adult , Middle Aged , Child, Preschool
2.
J Strength Cond Res ; 34(11): 3042-3054, 2020 Nov.
Article in English | MEDLINE | ID: mdl-33105353

ABSTRACT

Wells, AJ, Varanoske, AN, Coker, NA, Kozlowski, GJ, Frosti, CL, Boffey, D, Harat, I, Jahani, S, Gepner, Y, and Hoffman, JR. Effect of ß-alanine supplementation on monocyte recruitment and cognition during a 24-hour simulated military operation. J Strength Cond Res 34(11): 3042-3054, 2020-Sustained military operations (SUSOPs) result in psychological stress and cognitive dysfunction, which may be related to the recruitment of classical monocytes into the brain. This study examined the effect of beta-alanine (BA) on cognition and monocyte recruitment during a simulated 24-hour SUSOP. Nineteen healthy men ingested 12-g/d BA or placebo for 14 days before an SUSOP. Monocyte chemoattractant protein-1 (MCP-1), C-C chemokine receptor-2 (CCR2), and macrophage-1-antigen (CD11b) expression were assessed through multiplex assay and flow cytometry. Psychological stress and cognition were assessed through Automated Neuropsychological Assessment Metrics (ANAM). A composite measure of cognition (COGcomp) was generated from throughput scores extracted from 7 ANAM cognitive tests. Assessments occurred at baseline (0H), 12 hours (12H), 18 hours (18H), and 24 hours (24H). Significance was accepted at p ≤ 0.05. No significant effect of BA was noted for any variable (p's > 0.05). The frequency and severity of symptoms of psychological stress increased significantly at 18 and 24H compared with 0 and 12H (p's < 0.05). COGcomp decreased significantly at 18 and 24H compared with 0 and 12H (p's ≤ 0.001). MCP-1 peaked at 18H was significantly lower at 24H compared with 18H but remained elevated at 24H compared with 0H (p's < 0.001). CCR2 expression was significantly lower at 12 (p = 0.031), 18, and 24H (p's < 0.001). CD11b expression was significantly higher at 12H (p = 0.039) and 24H (p's = 0.003). MCP-1 was negatively associated with COGcomp (ß = -0.395, p = 0.002, r2 = 0.174). Neither CCR2 or CD11b was related to COGcomp (p's > 0.05). Cognitive dysfunction during SUSOPs is related to serum concentrations of MCP-1 but is not influenced by BA supplementation.


Subject(s)
Cognition/drug effects , Military Personnel , Monocytes/drug effects , Stress, Psychological/physiopathology , beta-Alanine/pharmacology , Adult , Chemokine CCL2/biosynthesis , Dietary Supplements , Double-Blind Method , Humans , Macrophage-1 Antigen/biosynthesis , Male , Monocytes/immunology , Receptors, CCR2/biosynthesis , Simulation Training/methods , Stress, Psychological/epidemiology , Young Adult
3.
Assessment ; 27(8): 1731-1747, 2020 12.
Article in English | MEDLINE | ID: mdl-30873844

ABSTRACT

The researchers examined the factor structure and model specifications of the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) with confirmatory tetrad analysis (CTA) using partial least squares-structural equation modeling (PLS-SEM) with a sample of adult clients (N = 298) receiving individual therapy at a university-based counseling research center. The CTA and PLS-SEM results identified the formative nature of the WHODAS 2.0 subscale scores, supporting an alternative measurement model of the WHODAS 2.0 scores as a second-order formative-formative model.


Subject(s)
Disability Evaluation , Disabled Persons , Adult , Humans , Latent Class Analysis , Least-Squares Analysis , Psychometrics , Reproducibility of Results , World Health Organization
4.
Nutr Metab Insights ; 12: 1178638819839063, 2019.
Article in English | MEDLINE | ID: mdl-31105429

ABSTRACT

The purpose of this study was to investigate the implementation of a nutrition module and activities (Go, Slow, Whoa) in a literacy environment through an active learning approach. Second graders (N = 85) from diverse socioeconomic status (SES) areas completed the 12-week program. The participants' perceptions of healthy food choices were measured both pre- and post-intervention. Students met for 30 minutes twice a week, to complete 5-lessons from a Coordinated Approach to Child Health (CATCH) nutrition module and activities (Go, Slow, Whoa). Measures were taken both pre- and post-intervention (Food Fury Quiz) to distinguishing between healthy and unhealthy foods (images). There was a statistically significant improvement (t = 12.16, df =84, P = .000) from pretest (M = 19.06, SD = 3.13) and posttest (M = 23.34, SD = 0.48) scores. Administering a healthy food choice curriculum through literacy and active learning provides an alternative approach to improving health knowledge among second grade students.

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