• Journal of Life Science
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• v.33 no.5
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• pp.429-435
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• 2023

Epidemiological studies suggest that maternal infection, maternal stress, and environmental risk factors during pregnancy increase the risk of brain development abnormalities associated with cognitive impairment in the offspring and increase susceptibility to schizophrenia and autism spectrum disorder. Several animal models have demonstrated that maternal immune activation (MIA) is sufficient to induce abnormal brain development and behavioral defects in the fetus. When polyinosine:polycytodylic acid (poly I:C) or lipopolysaccharide (LPS), which is commonly used in maternal immune activation animal models, was introduced into a pregnant dam, an increase in pro-inflammatory cytokines and microglial activity was observed in the offspring's brain. Microglia are brain-resident immune cells that play a mediating role in the central nervous system, and they are responsible for various functions, such as phagocytosis, synapse formation and branching, and angiogenesis. Several studies have reported that microglia are activated in MIA offspring and influence offspring behavior through interactions with various cytokines. In addition, it has been reported that they play an important role in brain circuits through interactions with neurons and astrocytes. However, there is controversy concerning whether microglia are essential to brain development or lead to behavioral defects, and the exact mechanism remains unknown. Therefore, for the potential diagnosis and treatment of brain developmental disorders, a functional study of microglia should be conducted using MIA animal models.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.38-44
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• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Journal of radiological science and technology
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• v.40 no.2
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• pp.213-218
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• 2017

Recently, as the number of high-risk pregnancies increases, the use of new techniques such as Doppler, which have higher acoustic power than in the past, has been increasingly used in prenatal diagnosis and guidelines have been set up by various organizations to prevent excessive exposure. Therefore, in this study, we tried to investigate the temperature change of the body surface for each test mode according to the long time ultrasound examination and to examine the exposure time which is not influenced by the thermal effect. B mode, C mode, and PD mode according to time, and the temperature difference between exposed and unexposed sites were compared. As a result, the B mode showed a significant difference in the temperature change from 10 minutes, 50 minutes after exposed, 20 minutes from the C mode, and 30 minutes from the PD mode (p<0.01). In all three modes, the temperature difference was different (p<0.000), and PD mode was the most sensitive to temperature change. Also, it was found that the temperature rise time was shortened with the increase of the ultrasonic exposure time. Therefore, it is recommended that ultrasonography to observe the embryo or fetus should be used only for diagnostic purposes, avoiding excessive test time.

• Neonatal Medicine
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• v.18 no.1
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• pp.117-123
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• 2011

Purpose: Congenital intrahepatic portosystemic shunts are rare disease and clinically asymptomatic shunts may be detected by chance on ultrasonogram before and after birth. We studied clinical course, treatment and prognosis of congenital intrahepatic portosystemic shunt at prenatal or neonatal period. Methods: Medical records of 8 patients which were diagnosed in intrahepatic portosystemic shunt in Cheil General Hospital from 2006 through 2010 were reviewed retrospectively. Results: Eight patients with congenital intrahepatic portosystemic shunts were identified. Six patients were diagnosed at prenatal radiological screening, including three cases of intrauterine growth restriction and two cases of preterm baby. One case with increased serum ammonia underwent coil embolization. In four cases including one case that presented elevated direct bilirubin, shunts were closed spontaneously within 11th month after birth. Two patients were diagnosed on abdominal sonogram after birth because of elevated direct hyperbilirubinemia, all of whom presented intrauterine growth restriction. Closure of shunts was confirmed during 4th month to 6th month. Conclusion: Congenital intrahepatic portosystemic shunts are clinically asymptomatic mostly and spontaneous closure is expected within 2 years age. But occasionally they have severe complication, so clinical and radiological observation is needed. Specially in cases of intrauterine growth retardation without evident cause, the possible diagnosis of congenital intrahepatic portosystemic shunts should be considered and prenatal and postnatal examination should be performed. When prenatal diagnosis is made, fetal wellbeing should be monitored periodically until spontaneous closure of shunts.

• The Journal of Korean Society of Virology
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• v.26 no.2
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• pp.235-244
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• 1996

We selected the adequate cell line to be used for propagation and plaquing of R. tsutsugamushi in laboratory and identified R. tsutsugamushi serotype cultured in LuMA cells by nested PCR. As in this study, we concluded that. 1. LuMA cell was suitable for the study of the biology of rickettsiae-host cell interaction. 2. The plaque-forming unit (PFU) per ml of R. tsutsugamushi Karp strain propagated in embryonated egg yolk sacs was $10^{8.8}$ and the PFU/ml of Gilliam strain was $10^{7.1}$. 3. The rate and extent of cytopathic changes depended on the PFU titer of R. tsutsugamushi. 4. PCR with nested primer pairs was useful for identification of R. tsutsugamushi serotype cultured in human embryonic lung cells.

• Journal of Chest Surgery
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• v.42 no.3
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• pp.364-367
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• 2009

Retroperitoneal pulmonary sequestration is an extremely rare congenital malformation. It is more frequently diagnosed in the antenatal period due to routine ultrasonic examinations that are conducted for a fetus or during the first 6 months of life, although retroperitoneal pulmonary sequestration is incidentally discovered in adults on rare occasions. Because the location and radiological findings of retroperitoneal pulmonary sequestration are very similar to those of another retroperitoneal masses, retroperitoneal pulmonary sequestration, although they are very rare, should be included in the differential diagnosis of a retroperitoneal suprarenal mass. Although fine needle aspiration may be considered as an aid for making the preoperative diagnosis, surgery remains the treatment of choice for symptomatic lesions and this surgery is associated with excellent results and a good prognosis.

• Journal of Chest Surgery
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• v.31 no.8
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• pp.811-815
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• 1998

Primar99y cardiac tumors are rare and about 25% of primary cardiac tumors are malignant. A primary undifferentiated cardiac sarcoma, which very rare, is presented as follows: A 28-year old woman at the 32th week of pregnancy was admitted to the hospital because of dyspnea. A large intracardiac (left atrium) tumor was found with cardiac echocardiography and MRI. Emergency operation was performed under the diagnosis of left atrial myxoma. After Cesarean section, LA-tomy was done under the cardiopulmonary bypass. Tumor removal including endocardium of left atrium was done and final pathologic diagnosis was primary undifferentiated laft atrial sarcoma. After adjuvant radiotherapy, she has been followed up in out patient bases without problems up to now.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.3
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• pp.151-155
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• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

• The korean journal of orthodontics
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• v.38 no.6
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• pp.437-455
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• 2008

Condylar hyperplasia is a pathologic condition showing 3-dimensional skeletal hyperplasia of the mandible. The reason for condylar hyperplasia is not yet known, but the effects of hormone, trauma, infection, genetics, fetal condition, and hypervascularity are known as possible reasons. When we diagnose a patient as having condylar hyperplasia, it is important to decide if it is in progress or not. Treatment for facial asymmetry due to condylar hyperplasia are decided accordingly, including condylectomy, that is removal of growth site of the affected condyle, and conventional orthognathic surgery only or condylectomy with orthognathic surgery after the completion of growth. Therefore, it is important to determine the growth state of condylar hyperplasia in treatment stability. This is verified through bone scan and regular check-ups with 3D CT or PA cephalogram. This case report introduces an improved case of facial asymmetry with condylectomy together with orthognathic surgery.

• Clinical and Experimental Pediatrics
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• v.45 no.8
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• pp.1038-1042
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• 2002

We present a case of in-utero vesicoamniotic shunting and postnatal vesicostomy in a very low birth weight baby with posterior urethral valve syndrome. He was diagnosed as posterior urethral valve at $24^{+5$ weeks' gestation. Because of severe hydronephrosis and oligohydroamnios, the shunt was established by basket-shaped catheter at $27^{+0}$ weeks' gestation. After shunt, hydronephrosis improved. At $29^{+4}$ weeks' gestation, the shunt catheter escaped from its position and severe urinary ascites and hydronephrosis developed. At 30 weeks' gestation, the baby was born and showed elevated BUN and creatinine. On the 10th day of birth, vesicostomy was done for urinary drainage. Thereafter, the baby has been followed up for 10 months and has had recurrent episodes of urinary infection. We report the case with a brief review of literature.