• Korean Journal of Animal Reproduction
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• v.27 no.4
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• pp.333-338
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• 2003

Transgenic mice containing GH Receptor (GHR) gene fused to metallothionein promoter were analyzed to evaluate effect of GHR expression on growth in vivo. Three founder mice lines contained copies of GHR transgene and transmitted these genes into F$_1$ and F$_2$ progenies. The mRNA expression of transgene was identified using RT-PCR with GHR genes in tissues. To analyze the effects of transgenes on growth performance, body weights of pups were measured at 4, 10 and 14 weeks after birth. The body weight of transgenic mice was higher compared with that of non-transgenic control mice regardless of sex (P<0.05). Body weights between transgenic and non-transgenic mice were increased with aging. Overall, GHR transgenic mice tended to grow about 10 to 15 ％ faster than non-transgenic mice without any pathological defects.

• 대한생식의학회:학술대회논문집
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• 2007.11a
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• pp.142.2-143
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• 2007

• Proceedings of the Korean Environmental Health Society Conference
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• 2003.06a
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• pp.26-26
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• 2003

During the Viet Nam war, A Luoi located in Thua Thien Hue Province was heavily sprayed herbicides by the Ranch Hand Operation of U.S.A force (549.274 gallons). After 30 years of knocking the operation off, Dioxin has still contaminated on environment and human body in A Luoi valley. The results of the study show that there is an epidemiological relationship between AO/Dioxin exposure and increasing rate of reproductive anomalies and birth defects (the rate of reproductive anomalies including congenital deformities after the war during 10-year and 25-year is higher than that before the war from 1.5 to 4 times). The study found that the highest rate of reproductive anomalies is spontaneous abortion. The average is premature death and congenital deformities, and the lowest rate is dead foetus and hydratidiform mole. The results of the primary assessment suggested that Dioxin transport from environment to human body through the food chain exposed by Dioxin such as fish, chicken, duck. A mitigation plan for residual dioxin contamination from Agent Orange Hervicides is requeste indispensable to inhabitants in Aluoi District.

• Biomedical Science Letters
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• v.21 no.1
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• pp.15-22
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• 2015

Dexamethasone, a synthetic glucocorticoid (GC), is clinically administered to woman at risk for premature labor to induce fetal lung maturation. However, exposure to repeated or excess GCs leads to intrauterine growth restriction (IUGR) and subsequently increases risk of psychiatric and cardio-metabolic diseases in later life through fetal programming mechanisms. GCs are key mediators of stress responses, therefore, maternal nutrient restriction or psychological stress during pregnancy also causes negative impacts on birth and neurodevelopment outcome of fetuses, and other congenital defects, such as craniofacial and skeletal abnormalities. In this study, to examine the effect of prenatal stress on fetal skeletal development, dexamethasone (1 mg/kg [DEX1] or 10 mg/kg [DEX10] maternal body weight per day) was administered intraperitoneally at gestational day 7.5~9.5 and the skeletons were prepared from embryos at day 18.5. Seven out of eighteen (39%) embryos treated with DEX10 showed axial skeletal abnormalities in either the T13 or L1 vertebrae. In addition, examination of the sternum revealed that xiphoid process, the protrusive triangular part of the lower end of the sternum, was bent more outward or inward in DEX group embryos. In conclusion, our findings suggest a possible link to the understanding of the effect of uterine environment to the fetal skeletal features.

• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1047-1050
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• 2003

Maternal varicella resulting in viremia may transmit the virus to the fetus by either transplacental spread, or by ascending infection from lesion in the birth canal. The characteristic symptoms consist of skin lesions in dermatomal distribution, eye diseases, neurological defects, and limb hypoplasia. Varicella of the newborn is a life-threatening illness that may occur when a newborn is delivered either within five days of the onset of the illness or after postdelivery exposure to varicella. The severity of neonatal disease is dependent upon the timing of maternal illness. The clinical approach to varicella of newborns should emphasize prevention. Our patient was the first child of a 31-year-old mother who had varicella-zoster ten days before delivery. The child showed muscular hypotonia, poor feeding but no skin lesions.

• Korean Journal of Cleft Lip And Palate
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• v.10 no.1
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• pp.17-22
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• 2007

The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity. These facial prominences arise during early embryogenesis from ventrally migrating neural crest cells in combination with the head ectoderm and mesoderm and undergo directed growth and expansion around the nasal pits to actively fuse with each other. Initial fusion is between lateral and medial nasal processes and is followed by fusion between maxillary and medial nasal processes. Fusion between these prominences involves active epithelial filopodial and adhering interactions as well as programmed cell death. Slight defects in growth and patterning of the facial mesenchyme or epithelial fusion result in cleft lip with or without cleft palate, the most common and disfiguring craniofacial birth defect. This review will summarize the current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.92-96
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• 2020

Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS) is an autosomal-dominant, extremely rare neurodevelopmental disorder caused by the heterozygous EBF3 gene mutation. EBF3 is located on chromosome 10q26.3 and acts as a transcription factor that regulates neurogenesis and differentiation. This syndrome is characterized by dysmorphism, cerebellar hypoplasia, urogenital anomaly, hypotonia, ataxia, intellectual deficit, and speech delay. The current report describes a 3-year-old Korean male carrying a de novo EBF3 mutation, c.589A>G (p.Asn197Asp), which was identified by whole exome sequencing. He manifested facial dysmorphism, hypotonia, strabismus, vermis hypoplasia, and urogenital anomalies, including vesicoureteral reflux, cryptorchidism, and areflexic bladder. This is the first report of a case of HADDS cause by an EBF3 mutation in the Korean population.

• Journal of the Institute of Electronics Engineers of Korea SC
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• v.46 no.2
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• pp.15-21
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• 2009

Hearing loss is one of the most common birth defects among infants. Most of hearing-impaired children are not diagnosed until 1 to 3 years of age - which is too late for the critical period (6 month) for normal speech and language development. If a hearing impairment is identified and treated in its early stage, child's speech and language skills could be comparable to his or her normal-hearing peers. For these reasons, hearing screening at birth and throughout childhood is extremely important. ABR (Auditory brain-stem response) is nowadays one of the most reliable diagnostic tools in the early detection of hearing impairment. In this study, we have developed the system that automatically detects if there is hearing impairment or not for infants or children. For future studies, it will be developed as a portable system to be able to take a measurement not only in sound proof room but also in nursery for neonates.

• Clinical and Experimental Pediatrics
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• v.55 no.7
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• pp.232-237
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• 2012

Purpose: With feasibility in the diagnoses of congenital heart disease (CHD) in the antenatal period, we suspect changes have occurred in its incidence. No data have been reported about the current incidence of simple forms of CHD in Korea. We have attempted to assess the recent incidence and characteristics of CHD in the neonatal care unit of a secondary referral medical center. Methods: Medical records of 497 neonatal care unit patients who underwent echocardiography in the past 5 years were reviewed. Preterm infants with patent ductus arteriosus and other transient, minimal lesions were excluded from this study. Results: Although the number of inpatients remained stable, the incidence of simple forms of CHD showed a gradual decrease over the 5-year study period; a markedly low incidence of complex forms was seen as well. CHD was observed in 3.7% full-term and 6.8% pre-term infants. CHD was observed in 152 infants weighing >2,500 g (3.5% of corresponding birth weight infants); 65 weighing 1,000 to 2,500 g (9.3%); and 6 weighing <1,000 g (8.0%). The incidence of CHD was higher in the pre-term group and the low birth weight group than in each corresponding subgroup (P<0.001); however, the incidence of complex CHD in full-term neonates was high. The number of patients with extracardiac structural anomalies has also shown a gradual decrease every year for the past 5 years. Conclusion: Findings from our study suggest that the recent incidence and disease pattern of CHD might have changed for both complex and simple forms of CHD in Korea.