• Journal of Genetic Medicine
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• v.13 no.2
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• pp.99-104
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• 2016

$Cant{\acute{u}}$ syndrome (CS, OMIM 239850) is a very rare autosomal dominantly inherited genetic disease characterized by congenital hypertrichosis, neonatal macrosomia, a distinct facial features such as macrocephaly, and cardiac defects. Since the first description by $Cant{\acute{u}}$ et al. in 1982, about 50 cases have been reported to date. Recently, two causative genes for CS has been found by using exome sequencing analyses: ABCC9 and KCNJ8. Most cases of clinically diagnosed CS have resulted from de novo mutations in ABCC9. In this study, we report three independent Korean children with CS resulting from de novo ABCC9 mutations. Our patients had common clinical findings such as congenital hypertrichosis, distinctive facial features. One of them showed severe pulmonary hypertension and hypertrophic cardiomyopathy, which require medical treatment. And, two patients had a history of patent ductus arteriosus. Although two of our patients had shown early motor developmental delay, it was gradually improved during follow-up periods. Although CS is quite rare, there are the concerns about development of various cardiac problems in the lifetime. Therefore, an accurate diagnosis followed by appropriate management and genetic counseling should be provided to CS patients.

• Journal of The Korean Dental Society of Anesthesiology
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• v.13 no.4
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• pp.221-224
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• 2013

Despite the laryngeal mask airway (LMA) has been widely used in anesthesia, its use is rare in the field of dentistry. Placing LMA in the oral cavity may interrupt dental treatment. However, there are some circumstances in which LMA is more advantageous than tracheal intubation for managing the airway. Especially, the reinforced LMA has a flexible tube shaft, rendering it more accessible for dental treatment. We report a case of dental treatment of a 3-year-old patient with hypoplastic left heart syndrome combined with pulmonary hypertension using reinforced LMA for airway management under general anesthesia. We also discuss the considerations of utilizing the reinforced LMA for dental treatment.

• Journal of Korean Medical Science
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• v.33 no.43
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• pp.282.1-282.6
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• 2018

Lung transplantation is the only treatment for end-stage lung disease, but the problem of donor shortage is unresolved issue. Herein, we report the first case of living-donor lobar lung transplantation (LDLLT) in Korea. A 19-year-old woman patient with idiopathic pulmonary artery hypertension received her father's right lower lobe and her mother's left lower lobe after pneumonectomy of both lungs in 2017. The patient has recovered well and is enjoying normal social activity. We think that LDLLT could be an alternative approach to deceased donor lung transplantation to overcome the shortage of lung donors.

• Neurospine
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• v.15 no.4
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• pp.376-382
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• 2018

Objective: The purpose of this study was to evaluate factors associated with inpatient admission following 2-level cervical disc arthroplasty (CDA). A secondary aim was to compare outcomes between those treated on an inpatient versus outpatient basis. Methods: Using data from the American College of Surgeons National Surgical Quality Improvement Program database, multivariate logistic regression analysis was used to assess the independent effect of each variable on inpatient or outpatient selection for surgery. Statistical significance was defined by p-values <0.05. The factors considered were age, sex, body mass index (BMI), smoking status, American Society of Anesthesiologists physical status classification, and comorbidities including hypertension, diabetes, history of dyspnea or chronic obstructive pulmonary disease, previous cardiac intervention or surgery, steroid usage, and history of bleeding. In addition, whether the operation was performed by an orthopedic or neurosurgical specialist was analyzed. Results: The number of 2-level CDA procedures increased from 6 cases reported in 2014 to 142 in 2016, although a statistically significant increase in the number of outpatient cases performed was not seen (p=0.2). The factors found to be significantly associated with inpatient status following surgery were BMI (p=0.019) and diabetes mellitus requiring insulin (p=0.043). There were no significant differences in complication and readmission rates between the inpatient and outpatient groups. Conclusion: Patients undergoing inpatient 2-level CDA had significantly higher rates of obesity and diabetes requiring insulin than did patients undergoing the same procedure in the outpatient setting. With no difference in complication or readmission rates, 2-level CDA may be considered safe in the outpatient setting in appropriately selected patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.50-54
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• 2018

Jehovah's Witnesses do not accept blood transfusions, because of their particular interpretation of the Old and New Testaments. When people with such religious convictions are in need of medical care, their faith and belief may become an obstacle for proper treatment, and pose legal, ethical, and medical challenges for the health care providers. We report two inherited metabolic disorder cases in South Korea where the infants died whilst under medical care because of parental refusal of blood transfusions for religious reasons. Case 1 had methylmalonic acidemia, Down syndrome and associated congenital cardiac anomalies requiring surgery. Case 2 had anemia and methylmalonic acidemia requiring dialysis to treat hyperammonemia and metabolic acidosis. For effective medical management, they needed life-saving blood transfusions. As a part of alternative treatment, Erythropoietin was administered in both cases. As a result, two babies died from their extremely low hemoglobin and hematocrit. The hemoglobin concentrations below 2.7 g/dL without cardiac problem and 5.4 g/dL with cardiac anomaly complicated by pulmonary hypertension are considered life-threatening hemoglobin threshold. The medical professional must respect and accommodate religious beliefs of the patients who can make informed decisions. However, when parents or legal guardians oppose medical treatment of their babies and incompetent care receivers on cultural and religious grounds, the duty to assist and save persons exposed to serious danger, particularly life-threatening events must come first.

• International Journal of Oral Biology
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• v.47 no.1
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• pp.9-15
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• 2022

Humulus japonicus (HJ) is a widely used herbal medicine for pulmonary tuberculosis, hypertension, leprosy, and venomous wounds in Asia, particularly in China. Although HJ has certain physiological activities, such as longitudinal bone growth, antioxidation and alleviation of rheumatism, its anticancer activities, other than in colorectal and ovarian cancer, are yet to be studied. In this study, we investigated the anti-cancer activity and mechanism of methanol extracts of HJ (MeHJ) against human FaDu hypopharyngeal squamous carcinoma cells. MeHJ suppressed FaDu cell viability without affecting normal cells (L929), which was demonstrated using the MTT and Live & Dead assays. Furthermore, MeHJ effectively inhibited colony formation of FaDu cells, even at non-cytotoxic concentrations, and significantly induced apoptosis through the proteolytic cleavage of caspase-9, -3, -7, poly (ADP-ribose) polymerase and through the downregulation of BCL-2 and upregulation of BAX in FaDu cells, as determined by DAPI staining, flow cytometry, and western blot analyses. Collectively, these findings suggest that the inhibitory effects of MeHJ on the growth and colony formation of oral cancer cells may be mediated by caspase- and mitochondrial-dependent apoptotic pathways in human FaDu hypopharyngeal squamous carcinoma cells. Therefore, MeHJ has the potential to be used as a natural chemotherapeutic drug against human oral cancer.

• Pediatric Infection and Vaccine
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• v.29 no.3
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• pp.161-165
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• 2022

We report a case of successful treatment of congenital syphilis in an extremely preterm baby. A 1,395 g female infant was born by emergency Caesarean section due to preterm labor and breech presentation at gestational age at 29 weeks and 3 days with an Apgar score of 2 and 4 at 1 minute and 5 minutes, respectively. The mother of the newborn, an illegal immigrant who did not receive any antenatal care, was diagnosed as active syphilis infection by reactive rapid plasma regain (RPR) (titer 1:128) just before the delivery. Upon birth, the newborn presented with various clinical manifestations, including severe respiratory distress syndrome, persistent pulmonary hypertension of the newborn, disseminated intravascular coagulopathy, desquamation and scaling of the whole body, and osteolytic changes of long bone ends. Results of laboratory tests showed signs of early congenital syphilis, including positive syphilis reagin test (12.7 R.U.), reactive with RPR titer of 1:64, and positive for immunoglobulin (Ig) M and IgG fluorescent treponemal antibody absorption test. However, after completion of penicillin G treatment for two weeks, laboratory results dramatically improved, showing a negative syphilis reagin test (0.5 R.U.) and non-reactive in RPR. In conclusion, the incidence of congenital syphilis is prone to be resurgent in South Korea, neonatologists should be fully aware of the clinical features of congenital syphilis because early diagnosis and prompt treatment are essential in order to reduce the social and economic burden due to congenital syphilis.

• Journal of Veterinary Science
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• v.24 no.4
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• pp.46.1-46.12
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• 2023

Background: Heartworm infection in dogs is caused by Dirofilaria immitis and common in shelter animals and outdoors dogs. Caval syndrome can develop with severe infection and physical heartworm removal is essential with heartworm burdens. In this study, we used an improved transvenous heartworm extraction brush, which was expected to cause less cardiovascular damage and allow easier manipulation. Objectives: This study aims to evaluate efficacy of this improved transvenous heartworm extraction brush. Methods: The brush was designed to improve upon the limitations of the previous brush-type devices. The brush was made of a polyvinyl chloride tube and threads of polyamides or polyglyconates. Metal material was inserted at the front tip for easy visualization under fluoroscopy. The eight dogs diagnosed with caval syndrome with large numbers of heartworms and pulmonary hypertension were used in this study. The removal procedure began with the dissection of the subcutaneous tissue around the right jugular vein. The device was inserted through the jugular vein. After insertion, the tube was rotated to catch the heartworms and extracted with the heartworms hanging on the threads. The procedure was repeated several times. Lastly, jugular vein and skin sutures were made. Adulticidal therapy was administered after heartworm removal. Results: The mean number of removed heartworms was 10.5 ± 4.24 and mean number of remaining heartworms was 0.63 ± 1.06. Total procedure time was 72.63 ± 51.36. Except for three cases, heartworms were not detected on ultrasonography after the procedure. No procedure-related side effects were observed within the 1- to 2-mon. Conclusions: An improved transvenous heartworm extraction brush is efficient for heartworm removal in dogs with caval syndrome.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.713-721
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• 2008

Purpose : This study aims to describe the clinical characteristics of severe meconium aspiration syndrome (MAS) which required mechanical ventilation over 48 h and to delineate the progress of respiratory failure and radiographic findings in severe MAS. Methods : Twelve infants admitted to the Neonatal Intensive Care Unit (NICU) of the Seoul National University Bundang Hospital diagnosed with severe MAS from January 2004 to July 2007 were analyzed retrospectively. Results : The presence of persistent pulmonary hypertension of the newborn (PPHN) is the only independently significant risk factor for a longer hospital stay and longer duration of mechanical ventilation. Surfactant replacement therapy (SRT) was not randomized but only performed in infants with radiographic findings for respiratory distress syndrome (RDS). In the presence of radiographic findings for RDS, the duration of high-frequency oscillatory ventilation was significantly longer. PPHN developed in 8 infants (75%). The PPHN group had a significantly longer duration of mechanical ventilation. All infants who received SRT showed radiographic improvement within 12 h, but there was no significant change in the severity score during the same period. Infants without the PPHN complications showed significant decrease in the severity score within 12 h after SRT, whereas infants with PPHN complications did not. Conclusion : The clinical course of severe MAS differed significantly depending on the development of PPHN. SRT conferred radiographic improvement in infants who showed radiographic findings for RDS, but did not influence the clinical course of MAS significantly.

• Neonatal Medicine
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• v.16 no.2
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• pp.146-153
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• 2009

Purpose: The aim of this study is to investigate the current use of dexamethasone rescue therapy (DRT) for bronchopulmonary dysplasia (BPD). Methods: This is a retrospective study of 251 BPD patients managed in the neonatal intensive care units at Seoul National University Childrens Hospital and Seoul National University Bundang Hospital between March 2004 and August 2008. The demographic data and clinical characteristics of the mothers and infants were analyzed. The infants were compared based on DRT responsiveness. The DRT complications were investigated. Results: Ninety-three patients (37.1%) were classified with severe BPD, DRT was only given to patients with severe BPD. Dexamethasone was administered to 24 patients (9.6%) whose respiratory status had precluded extubation, which indicated that conventional BPD management had failed. Fourteen patients (58.3%) who received DRT were responsive. DRT non-responders required more oxygenation and more complicated with pulmonary arterial hypertension (PAH). Responder had shorter length's of hospitalization and lower mortality rates. High dose dexamethasone was no more effective in weaning neonates from the ventilatior than low dose dexamethasone. Sepsis was the most common complication of DRT. Conclusion: DRT is a valuable treatment for severe BPD ahead of PAH development. DRT should not be performed in BPD patients with PAH due to the possibility of complications.