Severe laryngomalacia in a 1-month infant with Marfan syndrome

Severe respiratory difficulty can be more prominent, when combined with severe pectus excavatum and cardiovascular manifestations in infants with Marfan syndrome. There have been few reports on severe laryngomalacia as a cause of severe respiratory difficulty in an infant with Marfan syndrome. A 1-month-old boy was admitted due to severe respiratory difficulty. Immediately after birth, he had dysmorphic features, such as micrognathia, wrinkles on the forehead, and down-slanting palpebral fissures. On echocardiography, aortic root dilation with a mitral valve prolapse was observed. Due to severe laryngomalacia accompanied by severe respiratory difficulty and feeding difficulty, a partial epiglottectomy was performed at 1 month of age. After the surgery, suprasternal retraction and inspiratory stridor disappeared, and he started gaining weight with improvement in respiratory difficulty. On whole exome sequencing, a missense mutation on the FBN1 gene (c.3560A> C on exon 29, p.His1187Pro, calcium-binding epidermal growth factor-like #21) was identified. Despite higher perioperative risk due to comorbidities in Marfan syndrome, early intervention of laryngomalacia can be helpful in improving quality of life even in infants with Marfan syndrome.

Effects of Self-efficacy and Transplant-related Knowledge on Compliance with a Therapeutic Regimen for Recipients of Liver Transplant / 기본간호학회지

PURPOSE: This study was done to investigate the degree of self-efficacy, transplant-related knowledge, and other factors affecting compliance with a therapeutic regimen for liver transplant recipients. METHODS: Participants were 140 patients who had received a liver transplant at a tertiary hospital in Y City, Gyeongnam Province and made regular hospital visits as outpatients. A self-report questionnaire was used to collect the data and collection was done from December 4, 2017 to January 26, 2018. Data were analyzed using frequencies, percentages, means, and standard deviations, and t-test, ANOVA, Pearson's correlation coefficients. Multiple linear regression was performed using SPSS/WIN 21.0 program. RESULTS: Participants scored 113.29±20.95 (out of 150) on self-efficacy, 16.38±3.62 (out of 18) on transplant-related knowledge, and 148.30±31.06 (out of 200) on compliance with the therapeutic regimen. Analyzed of correlations among participant's self-efficacy, transplant-related knowledge, and compliance with the therapeutic regimen showed a significant positive correlation between self-efficacy and compliance with the therapeutic regimen (r=.64, p=.001), but no significant correlations were found between self-efficacy and transplant-related knowledge (r=−.01, p=.912) or between transplant-related knowledge and compliance with the therapeutic regimen (r=.06, p=.458). Multiple regression analysis showed that factors affecting compliance with the therapeutic regimen were state of re-transplantation (β=.17, p=.016) and self-efficacy (β=.53, p=.001). CONCLUSION: There is a need to apply a differentiated nursing intervention program considering the differences in patients' self-efficacy, transplant-related knowledge, and compliance with the therapeutic regimen.