• Child Health Nursing Research
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• v.7 no.4
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• pp.451-460
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• 2001

Congenital heart disease is now estimated to be the most prevalent chronic illness in children. The overall purpose of study is to enhance our understanding of mother's perception of family stress, perceived social support, and coping who has a child newly diagnosed with congenital heart disease. In this investigation, the relationship between family stress, perceived social support, and coping within the context of a acute, non life- threatening chronic illness in the situation of newly diagnosed as Rolland's typology of chronic illness. The study employed data from a subset of a large longitudinal study, children's chronic illness: parents and family adaptation conducted by M. McCubbin (5 R29 NR02563) which was funded by the NIH. The subject for this study were 92 mothers who have a child under age 12 who was newly diagnosed with congenital heart disease within the last 3-4 months. Results form correlational and regression analysis revealed that perceived social support operated as a resiliency factor between family stress and coping of mothers. Child and family characteristics appeared to be important predictors of perceived social support and mother's coping. Therefore, the findings provide an incremental contribution to the explanation of effects for perceived social support and may challenge resiliency model in previous literature. Further, these findings suggest that perceived social support and coping are both influencing in the resiliency of relatively high risk groups of families who has a child with congenital heart disease.

• Journal of Chest Surgery
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• v.11 no.4
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• pp.523-528
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• 1978

Recent advances in the surgical treatment of congenital disorders of the heart have necessitated an accurate preoperative diagnosis. Right heart catheterization has become widely accepted as a research tool and diagnostic test to detect the heart diseases, especially in the congenital heart anomalies. Right heart catheterizations were carried out in 50 cases of congenital heart diseases at Department of Thoracic and Cardiovascular Surgery, , Kyungpook National University Hospital, during the period of June, 1975 through September 1978. In age distribution, 27cases were below 10 years of age, 18 cases between 11 and 20, and 5 cases above 20 male to female ratio was 2.8:1. The distribution of congenital heart diseases was VSD [42%], TOF [36%], PDA [10%], ASD [8%], and PS[4%]. Of these, 44 cases [88%], were compatible with the clinical impressions that were made preliminarily before cardiac catheterization, and all the cases except 1 case of VSD was correlated well with the postoperative diagnosis. The right heart catheterization is considered to be reliable and accurate toll in the preoperative diagnosis of congenital heart diseases. These procedures caused complications such as left side hemiplegia [lcase], occlusion of the femoral artery [lcase], and transient ventricular tachycardia [1case], and so the complication rate of right heart catheterization was 6% [3 cases]. None of patients who have undergone right heart catheterization was died.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.196-200
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• 2006

Congenital toxoplasmosis is caused by vertical transmission of Toxoplasma gondii from mother during pregnancy. The broad clinical spectrum of congenital toxoplasmosis ranges from stillbirth or death shortly after birth to survival with either cerebral damage or mild or subclinical disease, consisting usually of ocular involvement. The authors experienced a case of congenital toxoplasmosis in prematurity baby whose mother had lived recently in Africa. The diagnosis of congenital toxoplasmosis was confirmed on the basis of clinical finding of chorioretinitis and positive serologic test for toxoplasma IgM antibody.

• Archives of Craniofacial Surgery
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• v.13 no.1
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• pp.57-59
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• 2012

Purpose: Congenital sinus of the upper lip is extremely rare and only 3 cases have been reported domestically. We report a case of congenital sinus of midline upper lip, which was found in an adolescent patient. Methods: A 14-year-old girl presented with a small pit on midline of the upper lip, which was visible at birth. The patient had never been treated for the congenital sinus because it was asymptomatic. Surgical excision under local anesthesia was performed. Results: The sinus had a tract extending into 5 mm posteroinferior and had not penetrated the oral cavity. Histological examination showed a fistulous tract lined by keratinized squamous epithelium. After complete excision, there was no recurrence and we obtained a satisfactory cosmetic result. Conclusion: Congenital sinus of the midline upper lip is extremely rare. This is a special case that is reported because it did not cause symptoms for the patient until she reached adolescence.

• Journal of Chest Surgery
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• v.19 no.1
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• pp.116-121
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• 1986

Patients over 15 years of age who have undergone a surgical correction of a congenital cardiac malformation during period of January 1958 through January 1986 have been reviewed. During this period there were 3957 congenital cardiac lesions consisting of 2712 acyanotic and 1245 cyanotic cases. Among them, a total of 725 adults [18.3%] with a variety of congenital heart lesions, 548 acyanotic group and 177 cyanotic group were operated on. 372 patients were male and 252 patients were female. There were 280 patients under 20 years of age, 206 between 20-24 years, 102 between 25-29 years, 48 between 30-34 and 89 over 35 years. The most common defects were atrial septal defect which accounted for 207 cases [28.6%] and other common anomalies were VSD [140 cases, 19.3%], TOF [136 cases, 18.6%], PDA [120 cases, 16.6%] and PS [33 cases, 4.6%] in order of incidence. Overall operative mortality for this series was 3.6% [1.8% of a cyanotic group and 9.0% of cyanotic group] compared with 2.8% of total cases of congenital heart disease [acyanotic group 1.1% and cyanotic group 6.5%]. This reviewed series reveals the incidence of operable congenital heart defects appearing in any adult life and demonstrates that surgical repair can be accomplished with a satisfactory low mortality rate.

• Journal of Chest Surgery
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• v.49 no.1
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• pp.35-38
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• 2016

The management of recurrent tricuspid regurgitation after tricuspid valve repair in patients with Ebstein anomaly is difficult, and tricuspid valve replacement is most commonly performed in such patients. We report two cases of recurrent tricuspid regurgitation in patients with Ebstein anomaly that were successfully re-repaired using the cone technique. The cone repair technique is a useful surgical method for reconstructing a competent tricuspid valve, and can be applied in patients who have undergone previous tricuspid valve repair.

• Clinical and Experimental Pediatrics
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• v.62 no.2
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• pp.68-74
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• 2019

Purpose: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations. Methods: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected. Results: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies. Conclusion: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.

• Journal of Yeungnam Medical Science
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• v.39 no.2
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• pp.161-167
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• 2022

Congenital web formations are extremely rare anomalies of the extrahepatic biliary tree. We herein report a case of common bile duct septum combined with multiple intrahepatic bile duct strictures in a 74-year-old female patient who was successfully treated with radiological intervention. The patient initially visited the hospital because of upper abdominal pain. Imaging studies revealed multifocal strictures with dilatation in both intra- and extrahepatic ducts; the final clinical diagnosis was congenital common bile duct web combined with multiple intrahepatic duct strictures. Surgical treatment was not indicated because multiple biliary strictures were untreatable, and the disease was clinically diagnosed as benign. The multiple strictures were extensively dilated twice through bilateral percutaneous transhepatic biliary drainage (PTBD) for 2 months. After 1 month of observation, PTBD catheters were successfully removed. The patient is doing well at 6 months after completion of the radiological intervention, with the maintenance of normal liver function. Congenital web of the bile duct is very rare, and its treatment may vary depending on the patterns of biliary stenosis. In cases where surgical intervention is not indicated for congenital web and its associated disease, radiological intervention with balloon dilatation can be a viable therapeutic option.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.53-57
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• 2022

Congenital metabolic disorders are rare inherited disorders resulting from a defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function. Depending on the abnormality of biochemical metabolism, various precursors and their abnormal metabolites can accumulate in the body and the final products which are critical in normal physiology can be deficient, resulting in disease. Congenital metabolic disorders present complicated medical conditions involving several human organ systems, including nervous system, eyes, liver, and kidneys. Various proteins and lipids are involved in the development and homeostasis of the skin, so many congenital metabolic disorders present abnormal changes in skin and hair. In this review, congenital metabolic diseases related to amino acid and lipid metabolism accompanying skin abnormalities will be discussed.