A cost-benefit analysis on tandem mass spectrometry of inherited metabolic diseases in Korea

PURPOSE: Tandem mass spectrometry (MS/MS) is effective screening test for inherited metabolic diseases. In this study, we estimate potential costs and benefits of using tandem mass spectrometry (MS/MS) to screen newborns for inherited metabolic diseases (phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency) in Korea. METHODS: From April 2001 to March 2004, 79,179 newborns were screened for amino acid disorders, organic acid disorders, and fatty acid oxidative disorders. Twenty-eight newborns were diagnosed with one of the metabolic disorder and the collective estimated prevalence amounted to 1 in 2,800 with a sensitivity of 97.67%, a specificity of 99.28%, a recall rate of 0.05%, and a positive preditive value of 6.38%. We calculated and compared the total costs in case when neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, and when not. RESULTS: If the neonatal screening on phenylketonuria, BH4 deficiency, citrullinemia, maple syrup urine disease, propionic aciduria, isovaleric aciduria, glutaric aciduria type 1, LCHAD deficiency is implemented, total benefits far exceed costs at a ratio of 1.40:1. CONCLUSION: Although, this study only concerns the monetary aspects of the neonatal screening, tandem mass spcetrometry for neonatal screening is cost-effective compared with not screening. The study appears to support the introduction of tandem mass spectrometry into a Korea neonatal screening programme for inherited metabolic diseases.

A Case of Hemorrhagic Gastritis due to Cow's Milk Allergy / 대한소아소화기영양학회지

Hematemesis is a rare condition in infants and can be a symptom of cow's milk-induced hemorrhagic gastritis. Other clinical manifestations of cow's milk allergy are vomiting, malnutrition and anemia. The criteria for the diagnosis of cow's milk allergy includes elimination of cow milk formula resulting in improvement of symptoms, specific endoscopic and histologic findings as well as exclusion of other causes. Cow's milk allergy should be considered in the etiologic differential diagnosis of hematemesis and gastritis in infancy. We have experienced a 1-month-old female infant with hematemesis due to cow's milk-induced hemorrhagic gastritis, and report the case with a review of previously published cases.

A Case of Familial Moyamoya Disease: A Case in Brother and Sister / 대한소아신경학회지

Moyamoya disease is a progressive and occlusive disorder of the cerebral vasculature with particular involvements of the circle of Willis and the arteries that feed it. It occurs commonly in Japan and Korea, but less frequently in the Western countries. The etiology of moyamoya disease is still unclear, but frequent familial occurrence suggests that some genetic factors may be important in its etiology. Approximately 7-10% of moyamoya disease are familial. We experienced 2 siblings with moyamoya disease, and report the case with a review of previously published cases of moyamoya disease within a family.

Color M-mode Propagation Velocity of Left Ventricular Inflow in Infants with Atrial Septal Defect

PURPOSE: We accidentally found out the decrease of color M-mode propagation velocity of LV inflow(Vp) in several Atrial septal defect(ASD) infants. The aim of this study was to identify it in more number of patients, and to find out the relationship of it to clinical characteristics and other cardiac function study results. METHODS: The present study was conducted on 16 isolated secundum ASD infants with defect diameter greater than 3 mm(L group), 10 infants with a defect diameter less than 3 mm(S group) and 11 infants with no structural abnormal findings(N group), among infants who visited the Pediatric Department of Soonchunhyang University Hospital and underwent a echocardiographic examination from April 2001 through June 2003. The systolic function tests via parasternal long axis, and other diastolic function tests were done at the same time. RESULTS: The mean ages of these three groups(L group, S group and N group) were 0.35+/-0.34 years, 0.22+/-0.22 years and 0.45+/-0.27 years, respectively. The Vp values were 48.42+/-10.84 cm/sec, 65.26+/-16.25 cm/sec, 65.28+/-13.36 cm/sec in groups, and significant difference between L group and other 2 groups(P=0.001). The only affecting variable to Vp values is defect area. There was significant causal relationship between them(P= 0.000). CONCLUSION: We identified the decrease of Vp in ASD infants, and it was linearly related to defect area size. It may be result of early diastolic ventricular interdependence in ASD.