• Archives of Reconstructive Microsurgery
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• v.19 no.2
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• pp.97-100
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• 2010

Purpose: Epidermolysis bullosa is a rare genetic disease, characterized by the presence of extremely fragile skin and formation of recurrent blister resulting from even a minor mechanical injury. Squamous cell carcinoma (SCC) is recognized as a complication of the chronic scarring associated with dystrophic epidermolysis bullosa (DEB). When a soft tissue defect happens in a patient with epidermolysis bullosa, it is difficult to cover it with a skin graft or a flap. We describe the successful use of a pedicled deep inferior epigastric perforator flap for the reconstruction of SCC associated with DEB in the groin. Methods: A 29-year-old man diagnosed with DEB at birth sustained an ulcer increasing in the right groin for the last 7 months. Under general anesthesia, the mass lesion and lymph nodes were removed and the resulting defect was covered with a pedicled deep inferior epigastric perforator flap. Results: The flap survived completely and his postoperative course was uneventful. Histopathological examination revealed a SCC in the right groin and malignant tumor cells in the removed lymph nodes as well. Additional positron emission tomogram showed a malignant lesion in the ileocecal area with regional lymph node metastasis. The patient was referred to an oncologist for chemotheraphy, but the patient refused to take it. During a 4-month follow-up period, there was no recurrence in the right groin. Conclusion: We suggest that perforator flaps can be considered as a reliable alternative for the reconstruction of soft tissue defects in a patient with DEB.

• Journal of the Institute of Electronics Engineers of Korea SC
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• v.47 no.3
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• pp.48-55
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• 2010

Hearing impairment is one of the most common birth defects among infants. Significant bilateral hearing impairment have profound effects on speech and language development. But it can be prevented, if a hearing impairment is identified and treated in its early stage. ABR (auditory brainstem response) is useful screening tool for new born hearing test. However, the interpretation of conventional ABR should be done by a experienced audiologist and testing takes some time. Therefore, A-ABR(automated ABR) which detect ABR peak automatically have been developed recently. In contrast to A-ABR researches became active in overseas, there has been little study in Korea. In this study, we have developed a portable A-ABR system based on the results of our previous study. For the evaluation of the developed system, the clinical trials were performed on adults and infants. As a results, it showed good sensitivity (94.4%) and specificity (92.2%), and accuracy (93.0%) between clinical diagnosis and the developed A-ABR test.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.21 no.1
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• pp.22-27
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• 2021

Propionic acidemia (PA) is an inherited autosomal recessive disorder, due to the deficiency of propionyl-CoA carboxylase (PCC). PCC is the enzyme which catalyzes the conversion of propionyl-CoA to D-methylmalonyl-CoA, and it is critical for the metabolism of amino acids, odd-chain fatty acids, and side chains of cholesterol. The clinical manifestations present mostly at the neonatal period with life-threatening metabolic acidosis and hyperammonemia. Here, we described a case of a 16-year-old Korean boy with late-onset PA who presented with embolic cerebral infarction due to dilated cardiomyopathy (DCMP) with left ventricular noncompaction. And he has family history of sudden cardiac death, so we performed metabolic screening and genetic tests. Elevated levels of 3-hydroxypropionic acid, methylcitric acid and propionylglycerine were detected in urine. Plasma acylcarnitine profile showed elevated propionylcarnitine (C3). Diagnosis of PA was confirmed by genetic analysis, which revealed compound heterozygous mutations, c.[1151T>G] (p.[Phe384Cys]) and c.[1228C>T] (p.[Arg410Trp]) in PCCB gene. His heart function is in improving state and the results of biochemical analysis are stable with heart failure medication and metabolic managements. We present a case of patient without episodes of metabolic decompensation who manifests DCMP as the first symptom of PA.

• Archives of Craniofacial Surgery
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• v.25 no.1
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• pp.11-16
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• 2024

Background: The pathogenesis of orofacial cleft (OFC) is multifactorial, involving both genetic and non-genetic factors, the latter of which play a key role in the development of these anomalies. This paper addresses the incidence of OFC in Indonesia, with a focus on identifying and examining the distribution of contributory factors, including parental medical history, pregnancy history, and environmental influences. Methods: The study was conducted through the collection of primary data. An interdisciplinary research team from Indonesia administered a standardized questionnaire to parents who had children with OFC and who had provided informed consent. The case group comprised 133 children born with cleft lip and/or palate, and the control was 133 noncleft children born full-term. The risk factors associated with OFC anomalies were analyzed using the chi-square test and logistic regression. All statistical analyses were performed using SPSS version 25. A p-value of 0.05 or less was considered to indicate statistical significance. Results: The study comprised 138 children, of whom 82 were boys (59.4%) and 56 were girls (40.6%). Among them, 45 patients (32.6%) presented with both cleft lip and cleft palate, 25 individuals (18.1%) had a cleft palate only, and 28 patients (20.3%) had a cleft lip only. OFC was found to be significantly associated with a maternal family history of congenital birth defects (p<0.05), complications during the first trimester (p<0.05), consumption of local fish (p<0.05), caffeine intake (p<0.05), prolonged medication use (p<0.05), immunization history (p<0.05), passive smoking (p<0.05), and X-ray exposure during pregnancy (p<0.05). Conclusion: The findings indicate close relationships between the incidence of OFC and maternal medical history, prenatal factors, and environmental influences.

• Journal of the Korean Society of Food Science and Nutrition
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• v.33 no.2
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• pp.331-338
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• 2004

Folate nutrition in early pregnancy is crucial in order to prevent neural tube defects (NTDs) in the fetus and maternal folate deficiency in late pregnancy If the influencing factors on maternal folate status are identified we may be able to detect the women at most risk of folate deficiency. This study intends to determine folate intakes, assess the levels of serum folate, erythrocyte folate, and plasma homocysteine, and reveal theinfluencing factors on maternal folate status in early pregnancy. A total of 151 healthy women in their first trimester volunteered for this study. The average length of gestation period was 9.1$\pm$ 2.3 weeks and seventy subjects were primipara. They consumed 1599$\pm$589 ㎉/day of energy and 230.8$\pm$145.2 $\mu\textrm{g}$/day of folate. This represented 72.5％ and 46.2％ of the Korean RDA respectively for pregnant women in the first half of Pregnancy. Results show that they consume less folate and energy due to morning sickness. Morning sickness correlated negatively with the intakes of energy, folate, ana Kimchi also. Their levels of serum folate, erythrocyte folate, and plasma homocysteine were 5.5$\pm$1.9 ng/mL, 266.6$\pm$75.0 ng/mL, and 7.0$\pm$1.8 $\mu$mol/L, respectively. Results indicate that 7.8% were deficient and 60.3% were borderline deficient in serum folate, 4.3% were deficient in erythrocyte folate, however, all had normal levels of plasma homocysteine. Results indicate that the folate status was not poor Contributing factors influencing serum folate concentrations ($R^2$= 0.724, p = 0.0001) were self-reported health status (+), folate intake (+), age (-), length of gestation (-), and homocysteine levels (-). Factors influencing erythrocyte folate concentrations ($R^2$ = 0.570, p = 0.0029) were the infant birth height of the last pregnancy (+), energy intake (+), age (-), plasma homocysteine concentration (-), and education level (-). Factors influencing plasma homocysteine concentrations ($R^2$= 0.450, p = 0.0051) were income level (+), prepregnancy weight (+), serum folate concentration (-), and the infant birth weight of the last pregnancy (-). These results indicate that pregnant women are likely to have a folate deficiency if they are in poor health status, having a history of delivering small infant and low energy and/or folate intake, and/or are older. And folate status is likely to decline as pregnancy progresses.

• Clinical and Experimental Pediatrics
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• v.51 no.9
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• pp.964-970
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• 2008

Purpose : Methylmalonic aciduria (MMA) and propionic aciduria (PA) are inborn errors in the catabolism of branched-chain amino acids. The study was undertaken to investigate the genotypes and clinical features of Korean patients with MMA and PA. Methods : This study examined 12 patients with MMA and eight with PA. We analyzed various clinical features, laboratory findings, treatments, and neuro-developmental outcomes. Diagnoses were based on the presence of characteristic compounds detected by amino acid analysis in serum and organic acid analysis in urine. Mutation analysis was performed in the genes of MUT, MMAA, MMAB, and MMACHC for MMA and PCCA and PCCB for PA. Results : Among the 20 patients, six patients were diagnosed before one month of age and nine patients were diagnosed after the newborn period. Five patients were diagnosed via a neonatal screening test. Patients with early-onset forms had more severe illness at presentation and generally poor outcomes. A favorable outcome was obtained in 55% patients; most of them were of a late-onset type or diagnosed by neonatal mass screening test without symptoms. Genotypes were confirmed in all patients with MMA. We detected 11 different mutations by MUT gene analysis in 10 patients, and three different mutations in MMACHC genes in two patients. PCCA and PCCB gene mutations were identified in 14 of the 16 alleles, in eight patients with PA. Conclusion : Organic aciduria is a fatal disease; however, better outcomes are expected whenever early diagnosis and prompt management are made possible. Mutation analysis is useful for confirming diagnoses and planning management strategies.

• Journal of Genetic Medicine
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• v.6 no.2
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• pp.175-178
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• 2009

The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to congenital defects and learning disabilities. Recently, the detection rate of 22q11.2 duplication has been increased by molecular techniques, such as array CGH. In this study, we report a familial case of 22q11.2 duplication detected prenatally. Her first pregnancy was terminated because of 22q11.2 duplication detected incidentally by BAC array CGH. The case was referred due to second pregnancy with same 22q11.2 duplication. We perfomed repeat amniocentesis for karyotype and FISH analysis. Karyotype analysis from amniocytes and parental lymphocytes were normal, while FISH analysis of interphase cells presented a duplication of 22q11.2 in the fetus and phenotypically normal mother. The fetal ultrasound showed grossly normal finding. After genetic counseling about variable phenotype with intrafamilial variability with 50% recurrence rate, the couple decided to continue the pregnancy. The newborn had no apparent congenital abnormalities until 2 weeks after birth. We recommend that family members of patients with a 22q11.2 duplication be tested by the interphase FISH analysis. Also, we point out the importance of genetic counseling and an evaluation of the clinical relevance of diagnostic test results.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.848-855
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• 2008

Purpose : The objective of this study was to ascertain the incidence of congenital heart disease in the western part of Gyeongnam Province in Korea. Methods : We enrolled 849 children (M:F=390:459) who were diagnosed with congenital heart disease (CHD) and received echocardiography during January 1997 to December 2005 in Gyeongsang National University Hospital. The subjects were limited to patients born from 1997 to 2004. The CHDs were classified into acyanotic types and cyanotic type. Further, acyanotic type CHDs were divided into shunt type and valvular types. Results : Numbers of initially diagnosed patients from 1997 to 2004 were as follows: 113, 128, 116, 104, 129, 97, 84, and 78. The median age of initially diagnosed CHD patients was 1 month in the acyanotic type and 0.5 months in cyanotic type. Also, an annual frequency among CHD types and gender ratio were no significant difference in every year. Incidences of CHD from 2000 to 2004 in the western part of Gyeongnam Province were 8.9, 12.7, 10.9, 10.0, and 9.7 per 1,000 live births, respectively. Conclusion : From 1997 to 2001, 100-130, and from 2002 to 2004, less than 100 patients were diagnosed with CHD. This showed a decrease in the numbers of CHD patients in the last three years. However, the Incidence of CHD was 0.89-1.24% during the last five years. Therefore, the decrease in the annual frequency of CHD was due to the recent decline in birth rate in Korea.

• Neonatal Medicine
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• v.16 no.2
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• pp.213-220
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• 2009

Purpose: Hearing loss is one of the common birth defects in humans, with a reported prevalence of 1-3 per 1000 newborns. We investigated the incidence of hearing loss and evaluated the use of neonatal hearing screening test in neonatal intensive care unit (NICU) graduates who are at greater risk for hearing loss than normal newborns. Methods: The neonates admitted to the NICU of Asan Medical Center from 1 March, 2003 to 30 March, 2008 who were available for follow-up were included. Those who failed the first auditory brainstem response prior to discharge were retested with the stapedial reflex test, auditory brainstem response and tympanometry in the Otolaryngology department. Results: Of 2,137 neonates, 2,000 (93.5%) neonates were tested prior to discharge. Sixty-seven neonates (3.4%) failed the first newborn hearing screening test. Of 67 infants, 52 infants were retested for a second hearing test. Excluding 10 infants (19.2%) who were lost during follow-up, 16 infants were confirmed to have hearing impairment of which 12 and 4 infants had unilateral and bilateral hearing loss, respectively. Of 16 infants, 5 did not meet the criteria set by the Korean National Health Insurance Corporation. Conclusion: The prevalence of hearing impairment in NICU graduates is about 0.8%, excluding those who were lost for follow up, necessitating a systemic and effective hearing assessment program among these high risk infants and more generous national insurance coverage.