• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.2
• /
• pp.98-100
• /
• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare mitochondrial fatty-acid oxidation disorder that is inherited as an autosomal recessive pattern. SCAD deficiency is caused by mutations in the ACADS gene (Acyl-CoA Dehydrogenase, Short-chain, OMIM #606885), which encodes SCAD, the mitochondrial enzyme that catalyzes the first reaction in the beta-oxidation of fatty acids four to six carbons in length. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening through tandem mass spectrometry. An increased concentration of butyrylcarnitine was detected on the newborn screening test, and the urine organic acid analysis showed increased urinary excretion of ethylmalonic acid. The patient has been asymptomatic and has shown normal growth and development by 8 months of age without any intervention during follow-up period.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.10 no.1
• /
• pp.27-30
• /
• 2010

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal-recessive inborn error of leucine catabolism caused by the deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC). With the introduction of tandem mass spectrometry in newborn screening, this disorder has been identified with unexpectedly high prevalence. The clinical manifestations of 3-MCCD are highly variable ranging from asymptomatic to severe neurological manifestations. 3-MCC is an heteromeric enzyme consisting of ${\alpha}$ - and ${\beta}$ - subunits, encoded by the MCCC1 and the MCCC2 gene, respectively. In the currentreport, a Korean patient with 3-MCCD is described. She was identified by newborn screening test, and has been asymptomatic with normal development and intelligence up to 3.8 years of age. She carries p.[D280Y]+[D280Y] mutations in the MCCC2 gene.

• Clinical and Experimental Pediatrics
• /
• v.64 no.5
• /
• pp.239-246
• /
• 2021

Background: The consequences of severe acute respiratory syndrome corona virus 2 on mother and fetus remain unknown due to a lack of robust evidence from prospective studies. Purpose: This study evaluated the effect of coronavirus disease 2019 (COVID-19) on neonatal outcomes and the scope of vertical transmission. Methods: This ambispective observational study enrolled pregnant women with COVID-19 in North India from April 1 to August 31, 2020 to evaluate neonatal outcomes and the risk of vertical transmission. Results: A total of 44 neonates born to 41 COVID-19-positive mothers were evaluated. Among them, 28 patients (68.3%) (2 sets of twins) were delivered within 7 days of testing positive for COVID-19, 23 patients (56%) (2 sets of twins) were delivered by cesarean section; 13 newborns (29.5%) had low birth weight; 7 (15.9%) were preterm; and 6 (13.6%) required neonatal intensive care unit admission, reflecting an increased incidence of cesarean delivery and low birth weight but zero neonatal mortality. Samples of cord blood, placental membrane, vaginal fluid, amniotic fluid, peritoneal fluid (in case of cesarean section), and breast milk for COVID-19 reverse transcription-polymerase chain reaction tested negative in 22 prospective delivery cases. Nasopharyngeal swabs of 2 newborns tested positive for COVID-19: one at 24 hours and the other on day 4 of life. In the former case, biological samples were not collected as the mother was asymptomatic and her COVID-19 report was available postdelivery; hence, the source of infection remained inconclusive. In the latter case, all samples tested negative, ruling out the possibility of vertical transmission. All neonates remained asymptomatic on follow-up. Conclusion: COVID-19 does not have direct adverse effects on the fetus per se. The possibility of vertical transmission is almost negligible, although results from larger trials are required to confirm our findings.

• Journal of Chest Surgery
• /
• v.17 no.2
• /
• pp.269-274
• /
• 1984

Since tuberculosis was a common pulmonary disease in Korea, Aspergillosis was easily misdiagnosed as tuberculosis and an acute form of Aspergillosis was misinterpreted as pneumonia because of their similarities in the X-ray findings. This investigation is designed to illustrate the clinical features and preoperative diagnosis and surgical role in the management of this disease. In a retrospective review of operative cases from Jan. 1963 through Dec. 1983, 36 cases were analyzed. Peak age incidence lies in the 3rd decade [41.7%]. All cases had a history of treatment with antituberculous drugs under diagnosis of pulmonary tuberculosis and the most common chief complaint was hemoptysis [69.5%]. Only nine cases [25%] showed cavitary lesions with mycetoma and preoperative sputum study for fungus showed low positive valve [42.3%]. Anatomical location of lesion was located mainly upper lobe [66.7%] and most of cases were managed by lobectomy. We experienced 7 cases of complication; they were postoperative empyema, hepatic failure, esophageal varix bleeding. Postoperative pathologic findings showed that 29 cases [80.5%] were combined with tuberculosis 3 cases were combined with bronchiectasis and 4 cases were not combined with other disease. In conclusion, when the patient has a longstanding history of pulmonary tuberculosis and has a hemoptysis, he must be suspected fungus super infection. Resectional surgery is the treatment of choice for symptomatic localized disease and needed resection in asymptomatic patient to prevent possible fatal sequelae in the future.

• Health Policy and Management
• /
• v.30 no.1
• /
• pp.1-3
• /
• 2020

Coronavirus disease 2019 (COVID-19), which originated in Wuhan, China, is pandemic. It has occurred in more than 170 countries on six continents. In Korea, COVID-19's cases are more than 9,000. The reasons of pandemic COVID-19 are that COVID-19 can spread asymptomatic or early in symptoms although similar reproductive number to severe acute respiratory syndrome coronavirus (SARS), that there are more travelers in China and world than the SARS of 2003, and that the control of COVID-19 was contaminated to political considerations in China, World Health Organization (WHO), and Korea. Emerging infectious diseases such as COVID-19 will occur in the future. To prepare for control of emerging infectious disease, first, the Ministry of Health should be independent from Ministry of Health and Welfare and the department of disease management should be established. Second, experts for making evidence about the emerging infectious diseases should be trained and the plan that is the mobilization of manpower and facilities in large cases will be established. Third, the WHO should enhance its capacity to manage emerging infectious diseases and Korea will support the country of occurred emerging diseases through experts in the analysis of emerging infectious diseases.

• Journal of Microbiology
• /
• v.38 no.4
• /
• pp.260-264
• /
• 2000

Reverse transcription (RT)-PCR and nested PCR methods (2-step PCR) were tested for their ability to detect marine birnavirus (MBV) in cultured rockfish, Sebastes schlegeli. One set of primers for RT-PCR was designed, based on a gene of infectious pancreatic necrosis virus (IPNV), and another set of primers for nested PCR was designed based on the VP2/NS junction region of MBV. This 2-step PCR method was specific for MBV and sensitivity was heightened when nested PCR was combined to RT-PCR. This 2-step PCR method was useful for detecting MBV not only in diseased fish, but also in asymptomatic fish. These results indicate that this 2-step PCR method is useful for detecting MBV in rockfish.

• Journal of Yeungnam Medical Science
• /
• v.32 no.2
• /
• pp.111-113
• /
• 2015

Clear cell acanthoma (CCA) is an asymptomatic benign lesion of unknown origin that typically appears as a brownish, dome-shaped papule on the leg. It has an unusual clinical feature in that it appears as chronic eczema, Bowen disease, or Paget disease on the areola. Its histopathologic findings are well-demarcated psoriasiform acanthosis with pale keratinocytes (clear cells) that are rich in intracellular glycogen, which stain positively with Periodic acid-Shiff. We report herein on a young female patient with CCA on the areolar areas.

• Clinical and Experimental Pediatrics
• /
• v.60 no.11
• /
• pp.344-352
• /
• 2017

Arrhythmias in the neonatal period are not uncommon, and may occur in neonates with a normal heart or in those with structural heart disease. Neonatal arrhythmias are classified as either benign or nonbenign. Benign arrhythmias include sinus arrhythmia, premature atrial contraction, premature ventricular contraction, and junctional rhythm; these arrhythmias have no clinical significance and do not need therapy. Supraventricular tachycardia, ventricular tachycardia, atrioventricular conduction abnormalities, and genetic arrhythmia such as congenital long-QT syndrome are classified as nonbenign arrhythmias. Although most neonatal arrhythmias are asymptomatic and rarely life-threatening, the prognosis depends on the early recognition and proper management of the condition in some serious cases. Precise diagnosis with risk stratification of patients with nonbenign neonatal arrhythmia is needed to reduce morbidity and mortality. In this article, I review the current understanding of the common clinical presentation, etiology, natural history, and management of neonatal arrhythmias in the absence of an underlying congenital heart disease.

• Journal of Chest Surgery
• /
• v.19 no.4
• /
• pp.595-605
• /
• 1986

From February 1986 through September 1986, the authors have experienced 6 cases of coronary artery bypass graft for patients with unstable angina. There were five males and one female who ranged from 39 to 65 years [mean, 53.3 years]. The extent of coronary disease was as follows: one-, two- and three-vessel diseases, all 2 cases respectively, and among them, 1 case had left main disease. Distal anastomoses were performed first with using saphenous vein grafts as conduits in all cases and sequential bypass methods were employed in 5 cases. Numbers of vein grafts were two in 2 cases and one in 4 cases. The mean time wasted for one distal anastomosis was 36 minutes. Post operative complications were leg-wound disruption [2 cases], transient psychosis [1 case] and perioperative myocardial infarction [MI] [1 case]. Sixty three year-old male patient associated with cardiomegaly, prior MI, ventricular arrhythmia, cardiac dysfunction and endocrinologic diseases preoperatively was expired in the operating room due to perioperative Ml. All survivors were asymptomatic and on discontinuing medical therapy on follow-up varying from 1 to 8 months.

• Journal of Chest Surgery
• /
• v.32 no.9
• /
• pp.847-850
• /
• 1999

Tracheobronchomegaly or Mounier-Kuhn syndrome a is rare disease characterized by marked dilatation of the trachea and main bronchi. It is thought to be due to a congenital anomaly, but is uncertain. It has variable clinical manifestations from causing chronic respiratory infections and bronchiectasis to being asymptomatic for the lifetime. Recently, we experienced a case of Mounier-Kuhn syndrome patient with tracheal diverticulum, who had lung cancer. Our case is reported with literature reviews.