• Proceedings of the Korean Society of Embryo Transfer Conference
• /
• 2002.11a
• /
• pp.110-110
• /
• 2002

Rapidly progressive interstitial renal fibrosis has recently been reported in young women who have been on a slimming regimen including chinese herbs. Aristolochic acid, suspected as the causal factor of this renal disease, is a well known carcinogen. It has been known that Madouling (Aristolochiae fructus) contains aristolochic acid. The objective of this study was to investigate the effects of Madouling, Madouling-tang, which are the extract mixture from 10 different chinese herbs including Madouling, and aristolochic acid on reproductive and developmental toxicity. Female rats were administered orally with the extracts of Madouling, madouling-tang, and aristolochic acid from 14 days before mating to day 17 of gestation. Madouling (8mg/kg) decreased fertility in the 8mg/kg group, but Madouling-tang and aristolochic acids did not. Significant decrease of mean fetal body weights were observed in the 16mg/kg group of aristolochic acids. External, visceral and skeletal malformation of fetuses were not observed with treatment. Histopathological examination showed the discrete damage of kidney in the 8mg/kg group of Madouling and 16mg/kg groups of aristolochic acid. In whole embryo culture, Madouling and Madouling-tang caused the retardation of growth and development of embryo in the dose of 1 $\mu$g/ml and 0.02 $\mu\textrm{g}$/kg, respectively while aristolochic acids showed the similar effect in the dose of 300 $\mu\textrm{g}$/kg. These results indicate that Madouling, up to 0.05mg/kg (prescription dose to human) has no adverse effects on the fertility, reproduction and development of Sprague-Dawley rats.

• Journal of Veterinary Clinics
• /
• v.41 no.1
• /
• pp.43-48
• /
• 2024

A two-year-old, intact female Golden Retriever had previously been diagnosed with a portosystemic shunt (PSS) during an ultrasonographic examination at a local animal hospital. The serum biochemistry revealed elevated liver enzymes and bile acid levels. The abdominal radiographic examination revealed mild serosal detail loss and microhepatica, while abdominal ultrasonography revealed mild ascites and high-velocity flow to the caudal vena cava (CVC) suspected as a PSS. The gallbladder was not observed within the hepatic parenchyma during ultrasonography. Computed tomography (CT) revealed an absent gallbladder and dilation of the common bile duct (CBD). Dilations of the gastroduodenal, splenic, colic and renal veins were also observed. A dilated left phrenico-abdominal vein that entered the CVC was previously misinterpreted as a PSS on the ultrasound examination. Based on the imaging examinations, the dog was diagnosed with congenital gallbladder agenesis associated CBD dilation.

• Advances in pediatric surgery
• /
• v.16 no.2
• /
• pp.154-161
• /
• 2010

Pulmonary sequestration (PS) is a rare congenital malformation of the lower respiratory tract. The anomaly is characterized by absence of communication with the tracheobronchial tree and isolated blood supply from an anomalous systemic vessels. With the utilization of antenatal ultrasound, the diagnosis of asymptomatic neonatal PS has increased. Treatment options include observation, arterial embolization and surgical resection. The aim of the present study is to review the clinical course of PS and to share our experience with thoracoscopic resection. A total of 96 patients with PS were treated at Asan Children's Hospital between 1999 and 2010. The diagnosis of PS was established by CT in the cases managed by observation or embolization, and by tissue pathology in the surgical cases. Medical records and radiographic images were retrospectively reviewed. Thirty-nine patients were managed by embolization and 30 patients by surgery. The remaining 27 patients have been under observation without any procedures. Among 27 observation patients, 1 patient regressed completely and 10 patients were lost to follow up. Of the 39 embolizations patients, 2 had their lesion regress and sepsis was suspected after embolization. In 1 patient, the microcoil migrated to the iliac artery during the embolization procedure, and another patient developed renal abscess caused by renal artery embolization. Among 30 surgical cases, resection by thoracotomy was performed in 27 at the Department of Thoracic Surgery, and thoracoscopic resection in 3 at the Division of Pediatric Sugery. Only one wound complication ocurred. We conclud that surgical excision should be recommended for pulmonary sequestration, whether the sequestration is symptomatic or not because of the risk of infection, the low rate of natural regress, poor compliance, severe complications after embolization, and to exclude other pathology. In summary, thoracoscopic resection of the pulmonary sequestration is feasible, efficacious, safe and cosmetically superior even in neonatal period.

• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.3 no.1
• /
• pp.17-21
• /
• 2007

Alagille syndrome is an autosomal dominant genetic disorder and occurs in approximately 1 in 100,000 live births. Diagnostic criteria was established by Alagille. It is mainly caused by a mutation in the Jagged1 gene. Major clinical features of this syndrome are paucity of intrahepatic bile duct with cholestasis, characteristic facies, cardiac murmur, defects of vertebrae, and embryotoxon. And minor clinical features are mental retardation, renal involvement, growth retardation, other skeletal abnormalities, a high-pitched voice. The surviving prognosis of Alagille syndrome patients depends on the severity of cardiovescular malformation in the early ages of infant. However, with the increasing years, it depends on the severity of the liver disease. Cholestasis causes congenital jaundice, malnutrition and growth retardation. Also, the increase of serum cholesterol level cause xanthoma and pruritus. Even though the severity of these problems are reduce with age, there is cases where there is no way but liver transplantation. For oral features of Alagille syndrome patients, green discoloration of entire dentition, induced by bilirubin infiltration into dentinal tubules, is especially. Also, xanthoma on gingiva and partial hypodontia have been reported. This report is on the oral features of an Alagille syndrome patient who visited to Kyung-Pook University Hospital.

• Clinical and Experimental Pediatrics
• /
• v.54 no.5
• /
• pp.219-223
• /
• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.

• Clinical and Experimental Pediatrics
• /
• v.63 no.8
• /
• pp.329-334
• /
• 2020

Background: Birth asphyxia is a leading cause of neonatal mortality. Ischemia-modified albumin (IMA) levels may have a predictive role in the identification and prevention of hypoxic disorders, as they increase in cases of ischemia of the liver, heart, brain, bowel, and kidney. Purpose: This study aimed to assess the value of IMA levels as a diagnostic marker for neonatal hypoxic-ischemic encephalopathy (HIE). Methods: Sixty newborns who fulfilled 3 or more of the clinical and biochemical criteria and developed HIE as defined by Levene staging were included in our study as the asphyxia group. Neonates with congenital malformation, systemic infection, intrauterine growth retardation, low-birth weight, cardiac or hemolytic disease, family history of neurological diseases, congenital or perinatal infections, preeclampsia, diabetes, and renal diseases were excluded from the study. Sixty healthy neonates matched for gestational age and with no maternal history of illness, established respiration at birth, and an Apgar score ≥7 at 1 and 5 minutes were included as the control group. IMA was determined by double-antibody enzyme-linked immunosorbent assay of a cord blood sample collected within 30 minutes after birth. Results: Cord blood IMA levels were higher in asphyxiated newborns than in controls (250.83±36.07 pmol/mL vs. 120.24±38.9 pmol/mL). Comparison of IMA levels by HIE stage revealed a highly significant difference among them (207.3±26.65, 259.28±11.68, 294.99±4.41 pmol/mL for mild, moderate, and severe, respectively). At a cutoff of 197.6 pmol/mL, the sensitivity was 84.5%, specificity was 86%, positive predictive value was 82.8%, negative predictive value was 88.3%, and area under the curve was 0.963 (P<0.001). Conclusion: IMA levels can be a reliable marker for the early diagnosis of neonatal HIE and can be a predictor of injury severity.

• Korean Journal of Head & Neck Oncology
• /
• v.27 no.1
• /
• pp.84-87
• /
• 2011

Branchio-otic syndrome(BOS) is a relatively uncommon genetic malformation associated with dysmorphogenesis of the first and second branchial arches and is characterized by branchial fistulae, congenital preauricular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. Recently, we experienced a case of BOS in a 10 years old female patient and report this case with a review of literature. 10-year-old girl presented with hearing impairment, bilateral preauricular fistula and cervical fistula. The pure tone audiometry revealed that she had 60dB sensorineural hearing loss on right side and 90dB mixed hearing loss on left. Bilateral branchial fistula was found on the neck CT scan and bilateral ossicular and cochlear abnormality combined with enlarged internal auditory canal was noted on the temporal bone CT scan. To investigate the association with EYA1 gene, we performed DNA sequncing with peripheral white blood cell and found the point mutations on Exon 7, 12 and 16 of EYA1 gene. The preauricular fistula and branchial fistula was excised surgically and hearing aid was applied on her left side. There was no sign of fistula recurrence for seven years after the surgery.

• Journal of Genetic Medicine
• /
• v.14 no.1
• /
• pp.43-47
• /
• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Clinical and Experimental Pediatrics
• /
• v.52 no.6
• /
• pp.655-660
• /
• 2009

Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. Results : A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. Conclusion : The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.