• Journal of the Korea Convergence Society
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• v.10 no.3
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• pp.347-354
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• 2019

Purpose: The purpose of this study was to determine the relationships among health related quality of life and uncertainty in adult patients with congenital heart diseases. Methods: The subjects were 136 adult congenital heart disease patients at the congenital heart center out-patient clinic of the A General Hospital in S city. Data were analyzed using descriptive statistics, t-test, ANOVA, Pearson's correlation coefficient and multiple regression. Results: There were significant negative correlations of quality of life with general motor function area and uncertainty. Among predictors, gross motor(${\beta}=-.38$) and daily activity (${\beta}=-.21$) had statistically significant influences on uncertainty(F=6.15, p=.018). Conclusion: Nursing interventions to promote gross motor and daily activity might be essential for adult patients with congenital heart disease in order to reduce uncertainty.

• Journal of Yeungnam Medical Science
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• v.40 no.2
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• pp.187-192
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• 2023

Background: This study aimed to present the short- and midterm outcomes after complete atrioventricular canal defect (CAVC) repair using a single-patch technique. Methods: This study included 30 children who underwent surgical correction of the CAVC using a single-patch technique. Results: The median age of the patients was 5.7 months (interquartile range [IQR], 5.0-7.5 months), and 23 patients (76.7%) had type A CAVC. Fourteen patients (46.7%) were female and 17 (56.7%) had been diagnosed with Down syndrome. The in-hospital mortality rate was 0%. No deaths were observed during a median follow-up of 4 years (IQR, 3.5-5.0 years). Patients without Down syndrome were associated with late moderate mitral regurgitation (MR) (p=0.02). Late MR less than moderate degree was observed in 96.6%, 78.5%, and 50% of patients after 2, 4, and 5 years of follow-up, respectively, while late tricuspid valve regurgitation less than moderate degree was observed in 96.7%, 85.9%, and 59.0% of patients after 2, 4, and 6 years of follow-up, respectively. After a median follow-up of 4 years, only one patient had required surgical repair of a left ventricular outflow tract obstruction, which occurred 26 months after the first operation. Multivariable logistic regression analysis adjusted for the type of CAVC, sex, Down syndrome, age, and weight revealed that the absence of Down syndrome was a risk factor for late moderate MR (MR-2) (odds ratio, 0.05; 95% confidence interval, 0.006-0.50; p=0.01). Conclusion: A single-patch technique for CAVC surgical repair is a safe method with acceptable short- and midterm results.

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Clinical and Experimental Pediatrics
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• v.58 no.7
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.481-487
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• 2009

Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The data for these patients with hemodynamically significant CHD (n=33) were compared with those without CHD (n=1,065). Results : The incidence of CHD was 3.0% (33 patients) 7 patients (21%) had CHD combined with the congenital abnormalities or chromosomal disorders. The most common CHD was a ventricular septal defect. The incidence of intrauterine growth retardation was higher in patients with CHD than in patients without CHD (34% vs. 20%), but there were no significant differences in gestational age, birth weight, respiratory distress syndrome, bronchopulmonary dysplasia, necrotizing enterocolitis, severe intraventricular hemorrhage (${\geq}$Gr III), and periventricular leukomalacia. Cardiac surgery was performed on 13 patients (39%). Nine patients received staged operations, and 10 patients received early intervention. The overall mortality in patients who had CHD was higher than in the patients who did not have CHD (27% vs. 16%). In patients with CHD, congenital abnormalities or chromosomal disorders were more important factors for increased mortality (86% vs. 11%) than the degree of complexity of CHD (19% vs. 42%). Conclusion : The most important prognostic factors of VLBWI with CHD are the associated congenital abnormalities or chromosomal disorders.

• Archives of Craniofacial Surgery
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• v.11 no.1
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• pp.13-18
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• 2010

Purpose: Nasal defect can be caused by excision of tumor, trauma, inflammation from foreign body reaction. Nose is located in the middle of face and protruded, reconstruction should be done in harmony with size, shape, color, and textures. We report various methods of nasal reconstruction using local flaps. Methods: From March 1998 to July 2008, 36 patients were operated to reconstruct the nasal defects. Causes of the nasal defects were tumor (18 cases), trauma (11 cases), inflammation from foreign body reaction (5 cases) and congenital malformation (2 cases). The sites of the defects were ala (22 cases), nasal tip (8 cases) and dorsum (6 cases). The thickness of the defects was skin only (5 cases), dermis and cartilagenous layer (7 cases) and full-thickness (24 cases). According to the sites and thickness of the defects, various local flaps were used. Most of alar defects were covered by nasolabial flaps or bilobed flaps and the majority of dorsal and tip defects were covered by paramedian forehead flaps. Small defects below $0.25 cm^2$ were covered with composite graft or full-thickness skin graft. Results: The follow-up period was 14 months. Partial flap necrosis was observed in a case, and one case of infection was reported, it was improved by wound revision and antibiotics. Nasal reconstruction with various local flaps could provide satisfactory results in terms of color and texture match. Conclusion: The important factors of nasal reconstruction are the shape of reconstructed nose, color, and texture. Nasolabial flap is appropriate method for alar or columellar reconstruction and nasolabial island flap is suitable for tip defect. The defect located lateral wall could be reconstructed with bilobed flap for natural color and texture. Skin graft should be considered when the defect could not afford to be covered by adjacent local flap. And entire nasal defect or large defect could be reconstructed by paramedian forehead flap.

• Journal of Chest Surgery
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• v.21 no.3
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• pp.574-582
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• 1988

Endocardial cushion defects is a rare congenital heart disease. We experienced two complete endocardial cushion defects[ECD] and three partial ones, which were successfully repaired between 1986 and 1987. In a patient of complete ECD, associated with secundum ASD, Pulmonary stenosis and Down`s syndrome, the atrial and ventricular septal defects were closed separately with bovine pericardium and Dacron patches respectively, and then pulmonary stenosis was relieved by transannular patch widening in addition to valvotomy and infundibulectomy. In another patient with complete ECD, small interventricular communication was closed with simple suture with pledget and primum ASD was closed with pericardial patch. In first patient of partial ECD, primum atrial septal defect was closed with pericardial patch. In second patient of partial ECD, associated with secundum ASD, direct closure of secundum ASD and patch closure of primum ASD were performed. In third patient of partial ECD, associated with patent foramen ovale[PFO], primum ASD was closed with bovine pericardial patch and PFO was closed directly. In all patient except third patient of partial ECD, mitral clefts were closed with three or four 5-0 prolene interrupted sutures. Transient A-V dissociation developed postoperatively in two patients and transient nodal rhythm developed postoperatively in other two patients. Heart failure in complete ECD with Down`s syndrome was overcome with medical treatment.

• International Journal of Stem Cells
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• v.16 no.4
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• pp.385-393
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• 2023

In vertebrates, the entire central nervous system is derived from the neural tube, which is formed through a conserved early developmental morphogenetic process called neurulation. Although the perturbations in neurulation caused by genetic or environmental factors lead to neural tube defects (NTDs), the most common congenital malformation and the precise molecular pathological cascades mediating NTDs are not well understood. Recently, we have developed human spinal cord organoids (hSCOs) that recapitulate some aspects of human neurulation and observed that valproic acid (VPA) could cause neurulation defects in an organoid model. In this study, we identified and verified the significant changes in cell-cell junctional genes/proteins in VPA-treated organoids using transcriptomic and immunostaining analysis. Furthermore, VPA-treated mouse embryos exhibited impaired gene expression and NTD phenotypes, similar to those observed in the hSCO model. Collectively, our data demonstrate that hSCOs provide a valuable biological resource for dissecting the molecular pathways underlying the currently unknown human neurulation process using destructive biological analysis tools.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.38
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• pp.43.1-43.4
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• 2016

Background: Supernumerary nostril is a congenital anomaly that contains additional nostril with or without accessory cartilage. These rare congenital nasal deformities result from embryological defects. Since 1906, Lindsay (Trans Pathol Soc Lond. 57:329-330, 1906) has published the first research of bilateral supernumerary nostrils, and only 34 cases have been reported so far in the English literature. Case presentation: A 1-year-old female baby was brought to our department group for the treatment of an accessory opening above the left nostril which had been presented since her birth. Medical history was non-specific and her birth was normal. The size of a supernumerary nostril was about 0.2 cm diameter and connected to the left nostril. The right one was normal. Minimal procedure was operated for the anomaly. After 1 year, rhinoplasty was performed for the nostril asymmetry. Conclusions: At 1 year follow-up, the functional and cosmetic result was satisfactory. In this case, it is important that we have early preoperative diagnosis. Also, it is desirable that we should perform a corrective surgery as soon as possible for the patient's psychosocial growth.

• Journal of Animal Reproduction and Biotechnology
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• v.34 no.3
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• pp.253-258
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• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.