• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.2
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• pp.199-206
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• 2001

Purpose: To review the clinical and laboratory features of patients with Wilson disease at diagnosis. Methods: In this retrospective study, records of all 20 patients, who were diagnosed as having Wilson disease at the Paik hospital in Busan from 1990 to 2000, were reviewed. Results: Out of 20 patients, 12 pateints (60%) have hepatic presentation alone, 2 patients (10%) have neurologic presentation, 4 patients (20%) have hepatic and neuropsychiatric presentation, and one patient (5%) has hematologic presentation at diagnosis. One patient (5%) has neither symptom nor laboratory finding of Wilson disease except very low serum ceruloplasmin level and positive family history. Family screening test revealed 3 cases of Wilson disease. 12 patients were revealed to be combined with liver cirrhosis at diagnosis. Conclusion: Early diagnosis and treatment is very important in patients with Wilson disease. Children or adolescents who manifest symptoms of hepatitis, who has prolonged elevation of liver enzymes, and has family history of hapatitis of unknown origin, with mild hematologic or urinary abnormalities must be suspected to have Wilson disease. Also, in adolescents with extrapyramidal symptoms or other neuropsychiatric symptoms, liver function test should be done.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.12 no.2
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• pp.194-198
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• 2009

Purpose: Severe abdominal distension is not uncommon symptom in the neonate. Two major causes of this symptom are benign transient intestinal ileus (BTII) and Hirschsprung`s disease (HD). But it is difficult to differentiate BTII from HD based on the symptoms and simple abdominal x-ray findings. The aim of this retrospective study was to assess the clinical aspects and diagnostic tests differencing two diseases. Methods: From August 2004 to March 2009, nineteen patients with severe abdominal distension, who underwent barium enema, anorectal manometry, and rectal suction biopsy (triple tests) due to a suspicion of HD, were enrolled. A comparison of clinical data associated with BTII and HD based on the clinical features and results of triple tests. Results: The age of onset of symptom was between 2 and 6 weeks in BTII and within 3 weeks in HD. On the barium enema, transitional zone revealed in 6 (50%) patients in BTII and 4 (57.1%) in HD. On anorectal manometry, the anorectal inhibitory reflex was present in 11 (91.7%) patients in BTII and 1 (14.3%) in HD. On rectal suction biopsy, ganglion cell was present in 9 (75%) patients in BTII and 0 (0%) in HD. Abdominal distension was improved within 3 months of life in all cases of BTII. Conclusion: We think that anorectal manometry may be more simple and useful diagnostic method than barium enema and rectal suction biopsy for differential diagnosis of transient intestinal ileus and Hirschsprung's disease.

• Phonetics and Speech Sciences
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• v.1 no.2
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• pp.51-59
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• 2009

This study was designed to investigate the effects of neonatal hearing screening program (NHSP) information on parental satisfaction with the Parent Satisfaction Questionnaire with Neonatal Hearing Screening Program (PSQ-NHSP) by Mazlan et al. (2006). The PSQ-NHSP consisted of four aspects including: information, personnel in charge of the hearing test, appointment activity, and overall satisfaction in the neonatal hearing screening program. A total of 106 parents (50 in the experimental group and 56 in the control group) participated in this study in one general hospital and two delivery clinics. The fifty parents in the experimental group received information and counseling with educational materials before filling out the PSQ-NHSP, but the fifty-six parents in the control group did not receive any counseling or education materials before completing the PSQ-NHSP. The PSQ-NHSP demonstrated excellent internal consistency reliability (${\sigma}=0.914$). The results of the study were as follows. First, the overall satisfaction ($3.77{\pm}0.81$) and personnel in charge of hearing test ($3.52{\pm}0.79$) aspects showed higher rates of satisfaction than the appointment activity aspect ($3.51{\pm}0.80$) for total subjects. Second, the overall parental satisfaction rate of the experimental group ($4.15{\pm}0.50$) was significantly higher than that of the control group ($3.09{\pm}0.53$) in all items. Lastly, thirty-two participants (30%) made at least one comment in response to the open-set items. A total of 29 comments were related to satisfaction with participating in the NHSP and II comments were related to dissatisfaction. In conclusion, to improve parental satisfaction it is important to provide parents with education and information about the NHSP before the test. In addition, PSQ-NHSP was found to be a useful instrument for identifying the benefits and shortfalls of the NHSP.

• Journal of Appropriate Technology
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• v.7 no.2
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• pp.206-210
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• 2021

Hyperbilirubinemia is the most common neonatal disease and is observed in about 80% of newborns worldwide in neonatal period within a week after birth. Untreated infant hyperbilirubinemia may lead to brain damage and even death, so it is very important to diagnose it quickly and accurately. In this study, a total bilirubin measurement system was developed that is portable and easy to use without pre-processing using a commercial smartphone. This system measures using the LED and camera of the smartphone without the need for additional devices, and because a small amount of blood is injected without pre-treatment, anyone can easily measure it in the field. In a comparative study with Cobas c111 results, accuracy meets CLIA guidelines with 94% (17/18) within ±0.4 mg/dL below 3 mg/dL and 98% within ±20% above 3 mg/dL (276/282). This system offers a simple, fast and accurate diagnosis for jaundice in infants and young children in low-resource settings.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.37-43
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• 2020

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase (PAH) gene. If untreated or late treated, results in profound and irreversible mental disability. Newborn screening test identify patients with phenylketouria. The early initiation of a phenylalanine restricted diet very soon prevents most of the neuropsychiatric complications. However, the diet therapy is difficult to maintain and compliance is poor, especially in adolescents and adulthood. Since 2015, American Medical College of Medical Genetics and Genomics (ACMG) recommended more strong restrictive diet therapy for target blood level of phenylalanine (<360 umol/L). For over four decades the only treatment was a very restrictive low phenylalanine diet. This changed in 2007 with the approval of cofactor therapy (Tetrahydrobiopterin, BH4) which is effective in up to 30% of patients. Data from controlled clinical trials with sapropterin dihydrochloride indicate a similar occurrence of all-cause adverse events with this treatment and placebo. Large neutral aminoacids (LNAA) competes with phenylalanine for transport across the blood-brain-barrier and have a beneficial effect on executive functioning. A new therapy has just been approved that can be effective in most patients with PAH deficiency regardless of their degree of enzyme deficiency or the severity of their phenotype. Phenylalanine ammonia lyase (PAL-PEG) was approved in the USA by FDA in May of 2018 for adult patients with uncontrolled blood phenylalanine concentrations on current treatment. Nucleic acid therapy (therapeutic mRNA or gene therapy) is likely to provide longer term solutions with few side effects.

• Clinical and Experimental Pediatrics
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• v.48 no.11
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• pp.1252-1255
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• 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low $T_4$ levels that were noted on the neonatal screening test. They showed normal levels of free $T_4$ and TSH. Their serum TBG was not detectable and those values of their parents were within the normal ranges. The genomic DNA was extracted from their white blood cells and the four coding exons of the TBG gene were amplified by using polymerase chain reaction. Sequencing of the four coding regions and all the intron/exon junctions revealed a single nucleotide deletion of the first base of the codon 352 of the mature protein in both of the neonates. This mutation resulted in a frameshift and a premature stop codon (TGA) 374. Their mothers were shown to be heterozygotes. We detected a single nucleotide deletion resulting in a frameshift in two male Korean neonates who had complete TBG deficiency.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• Clinical and Experimental Pediatrics
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• v.48 no.12
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• pp.1330-1336
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• 2005

Purpose : It has been suggested that changes in cerebral blood flow by ventilator care could be a risk factor in periventricular leukomalacia(PVL) and severe periventricular-intraventricular hemorrhage(PV-IVH). The study aims to assess the relationship between perinatal clinical events, including ventilator care, and the development of PVL and severe PV-IVH; especially, whether ventilator care could be causers of PVL and severe PV-IVH as an individual risk factor. Methods : Among 255 very low birth weight infants who survived in the Fatima neonatal intensive care unit from January 1999 to December 2003, 15 infants with PVL and eight infants with severe PV-IVH were classified as a study group, while 231 infants were enrolled as a control group. The analysis was performed retrospectively with medical records. Results : Twenty four infants were diagnosed with PVL or severe PV-IVH. Asphyxia, recurrent apnea, sepsis, acidosis and ventilator care were significantly increased in the PVL goup. Asphyxia, recurrent apnea, RDS, acidosis and ventilator care were significantly increased in the severe PV-IVH group. Conclusion : Infants with PVL or severe PV-IVH may have multiple perinatal risk factors including asphyxia, recurrent apnea, sepsis, acidosis, RDS and ventilator care. Because most patients with ventilator care have multiple perinatal risk factors, ventilator care does not cause PVL and severe PV-IVH independently. Therefore, incidences of PVL and severe PV-IVH can be decreased by not only gentle ventilation, but also more professional antenatal care.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.130-136
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• 2006

Purpose : The purpose of this study is to confirm the epidemiologic change of the causative organisms of neonatal and pediatric bacterial meningitis in Korea. And we tried to evaluate the risk factors correlated with prognosis which was available on the day of admission. Methods : Retrospectively, we reviewed the medical records of 57 patients admitted for bacterial meningitis at six hospitals affiliated with Catholic Medical Center for 6 years(Jan. 2000~Dec. 2005). Results : 22 cases(38.6%) of them were neonates under 28 days and 35 cases were infants and children ; 16 cases(28.1%), under 1 year ; 6 cases(10.5%), under 5 years ; 13 cases (22.8%), under 15 years. In neonates, 16 cases(72.7%) were caused by group B streptococcus (GBS). In infants and children, S. pneumoniae(25.7%), H. influenzae type b(Hib)(22.8%) and N. meningitidis(22.8%) were common cause of bacterial meningitis in order. In the informations available on the day of admission, weight deficit for age under 3 percentile, increased CRP level and decreased glucose level of CSF were related to poor prognosis(P<0.05). Conclusion : GBS became a leading cause of neonatal bacterial meningitis. Though, pneumoccocal, Hib and meningococcal meningitis were confirmed as major causes of bacterial meningitis. The routine immunization of pneumococcal and Hib vaccines will be considered, and it is necessary to introduce meningococcal vaccines to our country in the future.