HRQoL in Barth Syndrome: Agreement between Child Self-reports and Parent Proxy-reports and Its Relationship to Parental HRQoL
Yoonjeong Lim1*, Consuelo M. Kreider2, Mary Alvarez1, Roxanna M. Bendixen3
1Department of Occupational Therapy Byrdine F. Lewis College of Nursing & Health Professions, Georgia State University, Atlanta, GA, USA
2Department of Occupational Therapy, College of Public Health and Health Professions, University of Florida, Gainesville, FL, USA
3Department of Occupational Therapy, School of Health and Rehabilitation Sciences, University of Pittsburgh, Pittsburgh, PA, USA
Purpose: Barth syndrome is an X-linked rare disorder that typically affects only males. This study investigates 1) agreement between child self-reports and parent proxy-reports of HRQoL in boys with Barth syndrome and 2) relationship between parental HRQoL and parent proxy-reports of HRQoL for the child.
Materials and methods: Twenty-eight boys with Barth syndrome and their parents participated in this study. The PedsQLTM 4.0 and the PedsQLTM Family Impact Module were used to measure HRQoL of the boys, and the parents’ HRQoL, respectively. The Intraclass Correlation Coefficient was used to test agreement between the child self-reports and parent proxy-reports of HRQoL. The Spearman correlation coefficient was used to test the relationship between parental HRQoL and parent proxy-reports of HRQoL for the child.
Results: The agreement between the child self-reports and the parent proxy-reports showed moderate-to-good agreement. Higher parental HRQoL was significantly related to higher ratings of the parents on their children’s HRQoL (p < .05).
Conclusions: This study broadens understanding of HRQoL of boys with Barth syndrome using both child self-reports and parent proxy-reports. The findings indicate that the parent proxy-report of HRQoL should be used in conjunction with the child self-report when making client-centered health decisions.DOI: 10.29245/2690-0009/2019/2.1104 View / Download Pdf
Julie H. Andersen1,2*, Morten S. Olesen1,2
1Laboratory for Molecular Cardiology, Centre for Cardiac, Vascular, Pulmonary and Infectious Diseases, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark
2Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark
Atrial fibrillation (AF) is the most common type of cardiac arrhythmia. Through epidemiological studies, AF has been recognized to have a considerable genetic component. Genome-wide association studies have associated more than 100 genes with AF. Newer research has established a link between atrial cardiomyopathy and a predisposition for AF. This association has been further supported by recent exome and genome sequencing projects which have shown a substantial genetic overlap between genetic variants implicated in AF and cardiomyopathy in general. This review focuses on the genetic overlap between AF and cardiomyopathy.DOI: 10.29245/2690-0009/2019/2.1106 View / Download Pdf
Danielle E. Hohman1, Oren S. Lerner1, Scott M. Nolan1, Grace A. Kuza1, Zakia Zaman1, Douglas B. Luckie1,2*
1Lyman Briggs College, Michigan State University, East Lansing MI, USA
2Department of Physiology, Michigan State University, East Lansing MI, USA
There are over 1,700 mutations of the CFTR gene that lead to the autosomal recessive disease cystic fibrosis (CF). Of these, the V232D mutation is a rare condition caused by a single nucleotide polymorphism at the 232nd codon. At the mutation site, a T→A nucleotide change causes GTC (valine), to become GAC (aspartic acid). This promotes the formation of non-native hydrogen bonds, which lead to a misfolding of the CFTR protein. To increase the specificity of detecting the V232D mutation of CFTR, an array of allele specific polymerase chain reaction (AS-PCR) strategies were tested. Preliminary control experiments were conducted by analyzing commercially purified genomes and human genomic DNA isolated from somatic buccal cells using chelex resin. Primers were developed to compare amplification stability versus nucleotide sequence. Applying the Yaku group’s strategy, we hypothesized that a primer designed with the V232D SNP nucleotide mismatch at the second base from the 3’ end would be more effective at diagnosing the V232D mutation of CFTR than a primer with a mismatch at the third base from the 3’ end due to steric strain principle limiting false positive results. Final analysis yielded data to support the function of our mutant seeking primers on mutant DNA. Yet further studies are needed to investigate mismatched nucleotide placement versus annealing and polymerization.DOI: 10.29245/2690-0009/2019/2.1105 View / Download Pdf