• 대한의생명과학회지
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• 제15권4호
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• Journal of Oral Medicine and Pain
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• 제25권2호
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• pp.241-245
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• 2000

In this case report, I discussed the diagnosis and treatment of two pregnant women with temporomandibular disorders(TMD) who visited the Department of Oral Medicine, PNUH. Also, I reviewed some investigations of diagnosis and treatment of TMD in pregnant women. The obtained results were as follows; 1. No single X-ray diagnostic procedure for TMD results in radiation dose that threatens the well-being of the developing embryo and fetus. 2. Most non-steroidal anti-inflammatory drugs(NSAIDs) have commonly used because these drugs are considered to be nonteratogenic, but these agents are not recommended for routine use after 3rd trimester. 3. Electro-acupuncture stimulation therapy(EAST) is contraindicated for 1st trimester, and ultrasonic deep heat therapy, microwave deep heat therapy, low level laser therapy, myo-monitor are not contraindicated for pregnant women but clinician must consider some risk of adverse fetal effects. 4. The occlusal stabilization splint may be used for pregnant women, if it is fabricated indirectly. 5. Surgical treatment is contraindicated for pregnant women.

• Advances in pediatric surgery
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• 제15권1호
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• pp.38-43
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• 2009

With the widespread use of the obstetrical ultrasound, identification of a fetal suprarenal mass becomes more common. Most of these masses prove to be congenital neuroblastomas (CNB) postnatally. However, the diagnosis is often confused with other benign lesions and the post-natal management remains controversial. The medical records of 13 patients that underwent primary surgical excision for an antenatally detected adrenal CNB, between January 1995 and April 2009, were reviewed retrospectively. The clinical, radiological, surgical, and pathological data on the suprarenal mass were collected. Staging evaluation was performed after histological confirmation of the CNB. Most of the CNBs were stage I (N=11), with 1 stage IV and 1 stage IV-S. Four patients (3 stage I and 1 stage IV-S) had N-myc gene amplification. The stage I patients were cured by surgery alone, and stage IV patients underwent 9 cycles of adjuvant chemotherapy and currently have no evidence of disease after 39 months of follow-up. The patient with stage IV-S is currently receiving chemotherapy. There were no post-operative complications. For early diagnosis and treatment, surgical excision should be considered as the primary therapy for an adrenal CNB detected before birth. The surgery can be safely performed during the neonatal period and provides a cure in most cases. Surgical diagnosis and treatment of CNB is recommended in neonatal period.

• Journal of Genetic Medicine
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• 제13권2호
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• pp.95-98
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• 2016

We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제15권2호
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• pp.111-116
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• 2012

Toxic hepatitis is a rare but devastating disease in children. Herbs are widely used in oriental medicine to treat various symptoms in Korea, however, several herbs have been reported to induce liver injury. We report a case of toxic hepatitis induced by Hovenia dulcis in a 3-year-old boy. He complained of nausea, abdominal discomfort, and jaundice. The patient had consumed water boiled with hovenia dulcis for about 1 year prior to presentation. A diagnosis of toxic hepatitis was made based on his history, laboratory data, viral markers, ultrasonography, and biopsied liver tissue. We administered supportive management for acute fulminant hepatitis but his symptoms and liver function progressed. He was transferred to another hospital for further evaluation and consideration for liver transplantation. Because acute liver failure due to herbs or dietary supplement taken for a long time is often fetal, it is important to make early diagnosis and stop taking the drug as soon as drug induced liver injury is suspected.

• Childhood Kidney Diseases
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• 제19권1호
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• pp.8-13
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• 2015

Antenatal hydronephrosis (ANH) is one of the most common abnormal findings detected on prenatal ultrasound (US), and it has been reported in 1-5% of all pregnancies. The likelihood of significant postnatal pathologic abnormality in the urinary tract correlates with the degree of anterior-posterior diameter (APD) according to the gestational age. Detection of urologic anomalies prenatally permits fetal interventions that avoid complications in rare cases of bladder outlet obstruction with oligohydramnios even though their final benefits still remain controversial. There is no clear consensus on the extent and mode of postnatal imaging after a diagnosis of ANH. US is the mainstay of the postnatal evaluation and helps guide further testing with voiding cystourethrography (VCUG) and diuretic renography. Although most algorithms continue to recommend generous VCUG for identification of lower urinary tract anomalies, VCUG may be safely reserved for high grade ANH cases or any grade of ANH with dilated distal ureter without increasing the risk of urinary tract infection (UTI). There are conflicting studies about efficacy of postnatal prophylactic antibiotics. It still seems reasonable to consider use of a prophylactic antibiotic to prevent infant UTIs in high-risk populations, such as females and uncircumcised males with high grades of hydronephrosis, hydroureteronephrosis, or vesicouretral reflux.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• 대한의생명과학회지
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• 제7권1호
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• pp.1-5
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• 2001

A cDNA of coagulation Factor IX gene has been screened from the $\lambda$gt11 human fetal liver cDNA library, and used to construct a 2.8-kb full length cDNA after recombining with the N-terminal fragment from pTZ-FIX. Human genomic DNA was isolated, digested with the restriction endonucleases, TaqI, EcoRI, and HindIII, and Southern hybridization was performed using the full length factor IX cDNA as a probe. The hybridized bands generated by the restriction endonucleases were the followings: TaqI, 0.3, 1.0, 1.6, 1.8, 2.7, 3.7, and 5.3 kb bands; EcoRI, 1.8, 4.8, 4.9, 5.5, 6.8, and 12.6 kb bands; HindIII, 4.1, 4.4, 5.2, 5.8, 7.6, and 12.5 kb bands. When the Southern bands were physically mapped along the genome, about 50-kb continuous region harboring almost all of the genomic region of Factor Ⅸ gene was covered. These results suggest a possibility of using an exonal cDNA probe to diagnose abnormalities including large deletions, insertions, and rearrangements along the genome, if there is any.

• Journal of Chest Surgery
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• 제25권9호
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• pp.900-904
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• 1992

Pulmonary blastoma is a very rare, primary, malignant neoplasm of the lung. The tumor typically is large, well-defined mass and arises in the periphery of the lung. Histologically, it resembles fetal lung tissue evoking the concept that these tumors are drived from the primitive pluripotential pulmonary blastema, but controversy also exit about the nature of this tumor. Clinical evaluation is inconsistant and unreliable as to the diagnostic determination of the tumor type and degree of malignancy. Therefore, diagnosis is usually based on histologic findings. The prognosis after adequate resection appears to be better than for other malignant tumors of the lungs. We experienced a case of pulmonary blastoma occurring in 56-year-old female. She was hospitalized for evaluation of an abnormal shadow in the left lower lung field which found incidentally on chest roentgenogram. We approached the lesion though left posterolateral thoracotomy and performed the left lower lobectomy. The microscopic findings of resected specimen revealed characteristic appearance of pulmonary blastoma. The postoperative course was uneventful without complication.

• Clinical and Experimental Reproductive Medicine
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• 제32권4호
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• pp.353-359
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• 2005

Heterotopic pregnancy is named when an extrauterine (ectopic) pregnancy coexists with an intrauterine pregnancy simultaneously by many causes such as PID (pelvic inflammatory disease), endometriosis, IUD (intrauterine device), previous pelvic surgery and others. This is very rare in general population, with a range of occurrence estimated between 1:7963 and 1:30000. But recently the incidence has increased as the uses of ARTs (assisted reproductive technologies) including ovulation induction, IVF-ET (in-vitro fertilization and embryo transfer) and GIFT (gamete intrafallopian transfer) increase. Because this has high maternal morbidity, mortality and fetal loss, early diagnosis and proper management is very important. We report a case of heterotopic pregnancy following IVF-ET with a brief review.