• Journal of Genetic Medicine
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• v.17 no.2
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Journal of Trauma and Injury
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• v.33 no.4
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• pp.256-259
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• 2020

Although traumatic posterior fossa subdural hematoma (TPFSH) in neonates immediately after birth is extremely rare, it can pose a serious clinical problem in the neonatal period. Here, the author presents the case of a 3-day-old male infant who underwent emergency surgical treatment of TPFSH with a favorable outcome. Debate continues about surgical versus conservative treatment of TPFSH in neonates. The clinical symptoms, extent of hemorrhage, early diagnosis, and prompt and appropriate surgery are the most important factors in the treatment of TPFSH in neonates. Therefore, neurosurgeons should establish treatment strategies based on the newborn's clinical condition, the size and location of the TPFSH, and the potential of the hematoma to cause long-term complications.

• Journal of Korean Neurosurgical Society
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• v.66 no.3
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• pp.247-257
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• 2023

Recently, the survival of the high-risk population of preterm infants has steadily improved, and the severity of prematurity is a growing threat of gestational-age-related fatal conditions. Posthemorrhagic hydrocephalus (PHH) is the most common but serious neurological complication in premature infants, which can have life-threatening consequences during the acute phase in the neonatal period and life-long psychomotor and cognitive sequelae in their later life. Although neonatologists, pediatric neurologists, and pediatric neurosurgeons have investigated a diversified strategy for several decades, a consensus on the best management of PHH in premature infants still must be reached. Several approaches have tried to reduce the incidence of intraventricular hemorrhage (IVH) and mitigate the effect of IVH-related hydrocephalus. This paper reviews and discusses the clinical feature of PHH in premature infants, general/nonsurgical management of prematurity for IVH prevention, and posthemorrhagic management, and how and when to intervene.

• Korean Journal of Exercise Nutrition
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• v.13 no.1
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• pp.23-28
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• 2009

The expression of c-Fos and c-Jun represents neuronal activity and plays a crucial role in the shaping of the development of brain. During the late pregnancy, exercise is known to influence neuronal activity of offspring. In the present study, the effect of swimming during pregnancy on the expression of c-Fos and c-Jun in the CA1, CA2, CA3 regions, and the dentate gyrus of the hippocampus of rat offspring was investigated using immunohistochemistry. Pregnant rats in the swimming group were forced to swim for 10 min once a day from 15 days after pregnancy until delivery. The expression of c-Fos and c-Jun in the CA1, CA2, CA3 regions, and the dentate gyrus of the hippocampus of pups was significantly increased by maternal swimming during late pregnant period. The present results show that prenatal swimming may enhance the neuronal activity of pups and affect the neonatal brain development.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.109-114
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• 2016

Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder which causes hyperammonemia. CPS1 is the first enzyme step in the urea cycle and almost patients present their symptoms during neonatal period. We report a case of CPS1 deficiency in a boy who developed symptoms including lethargy and seizure at 3 days of age. The ammonia level was up to $2,325{\mu}mol/L$, sodium benzoate (250 mg/kg/d) and high calories of both dextrose and lipid was promptly administered. Central access by experienced pediatric surgeon and emergent continuous hemodialysis by pediatric nephrologist was performed within 3 hours and ammonia was less than $100{\mu}mol/L$ at 5 days of age. Currently, he has showed excellent response to treatments including scavenging drugs and a low-protein diet. Despite of diffuse increasing signal intensity on cerebral white matters and basal ganglia on brain MRI, his development and weight gain were good at the last follow-up at 11 months of age. Molecular assay of the CPS1 gene demonstrated that patient had compound heterozygous for c.1529del ($p.Gly510Alafs^*5$) in exon 14 and c.3142-1G>C (IVS25(-1)G>C) in intron 25 and exon 26 boundary. The splicing mutation was novel mutation and inherited from patient's mother. Here, we report a neonatal lethal type CPS1 deficiency patient having novel mutation.

• Proceedings of the Korea Society of Environmental Toocicology Conference
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• 2003.10a
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• pp.57-69
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• 2003

It is well known that many pesticides possess hormonal activity, and affect the developments of wildlife and mammals including human. Currently, pyrethroid insecticides are in worldwide use to control in and outdoor pests, providing potential far environmental exposure. Hormonal activities of these pyrethroid insecticides, however, have been little studied, and the developmental effects of them were no reported. Therefore, we firstly examined the potential estrogenic activities of some pyrethroid insecticides (permethrin, cypermethrin, tetramethrin, deltamethrin, sumithrin, fenvalerate and bioallethrin) by immature rat uterotrophic assay, luciferase reporter gene assay and Calbindin-D$\sub$9k/ (CaBP-9k) gene expression assay. Uterine wet weights were increased by permethrin and the permethrin-induced weights were inhibited by ICI 182780 in the uterolrophic assay. On the other hand tetramethrin significantly reduced uterine and vaginal wet weights, and also inhibited the E2-induced weight increases at all doses tested. Cypermethrin and sumithrin had a tendency to increase uterine weights, although not statistically significant. Permethrin and cypermethrin dose-dependently increased the luciferase activity in reporter gene assay. Northern blot analysis showed that permethrin induced CaBP-9k mRNA expression whereas tetramethrin inhibted. Subsequent studies were conducted to investigate the possible developmental effects of four pyrethroid insecricides (permethrin, cypermethrin, sumithrin and teramethrin). Either diethlbestrol (DES) or 17${\beta}$ -estradiol (E2) was used as a reference control in this study. Pyrethroid insecticides were administered to Sprague Dawley rats via subcutaneous injection at 6 to 18 days of gestation or 1 to 5 days after birth. In utero treatment of permethrin (10mg/kg/day) in female rat resulted in significant increases in uterine and ovarian weights while significant decreases in serum E2 concentration, uterine and ovarian ER${\alpha}$ mRNA levels. Sumithrin and permethrin led to acceleration in vaginal opening of female rat, while delay in preputial separation of male after neonatal treatment. Anogenital distances of PND 18 were significantly reduced in sumthrin-treated, and permerhrin-treated male rats after neonatal treatment. All the pyrethroid insecticides tested caused significant increases in uterine weights on PND 18, while significant reductions in the first diestrus phase when neonataly treated. In addition, exposure to pyrethroids in neonatal period led to significant reduction in relative brain weight in female rat on PND 18, but its weight was recovered in diestrus phase. In summary, Our experimental data demonstrate the possibilities of developmental effects of pyrethroid insecticides via estrogenic or antiestrogenic activity.

• Animal cells and systems
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• v.1 no.4
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• pp.595-602
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• 1997

Treatment of newborn female rats with gonadal steroids induces permanent sterility in adulthood. We investigated the alteration in expression patterns of gonadotropin-releasing hormone (GnRH) and luteinizing hormone (LH) in neonatally estrogenized sterile rats (ESR). Newborn female rats received daily injections of 17${\beta}$-estradiol (E, 10 ${\mu}$g) from the day of birth (day 1) to postnatal day 5. Controls were subjected to vehicles over the same period. All animals were sacrificed on week 7 after birth. Hypothalamic GnRH mANA levels were markedly higher in all ESR than in controls, while hypothalamic GnRH contents in ESR increased in proportion to the frequency of daily administration of E. However, both pituitary LH6 mRNA and serum LH levels were inversely decreased by the same treatment. The data indicate that neonatal exposure of E equally elevates the expression of GnRH gene, but reduces the secretion of GnRH, accordingly leading to attenuation of LH6 gene expression and circulating LH levels. The temporal effect of E and/or progesterone (P) on GnRH and LH6 mRNA levels was also examined in ESR. Newborn female rats were daily injected with E (10 ${\mu}$g) or vehicle for five successive days from day 1 and ovariectomized at week 5. They were implanted with E (235 ${\mu}$g/ml) two days prior to week 7, injected with P (1 mg) 42 h later, and sacrificed 7 h after P administration. In ovariectomized controls, hypothalamic GnRH mRNA levels were dropped to half by treatment of E and restored by subsequent treatment of P. The negative feedback action of E on GnRH mRNA levels observed in ovariectomized rats was completely blocked by neonatal exposure of E. The change in pituitary LH mRNA levels was similar to that in hypothalamic GnRH mRNA levels. Taken together, the results suggest that neonatal treatment of E alters the synthesis and release of GnRH in adulthood and furthermore blocks the negative feedback regulation of E which occurs normally after ovariectomy.

• Journal of Microbiology and Biotechnology
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• v.16 no.9
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• pp.1347-1354
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• 2006

The aims of this study were to establish a simple and effective method for isolating male germline stem cells (GSCs), and to test the possibility of using these cells as a new approach for male infertility treatment. Testes obtained from neonatal and adult mice were manually decapsulated. GSCs were collected from seminiferous tubules by a two-step enzyme digestion method and plated on gelatin-coated dishes. Over 5-7 days of culture, GSCs obtained from neonates and adults gave rise to large multicellular colonies that were subsequently grown for 10 passages. During in vitro proliferation, oct-4 and two immunological markers (Integrin ${\beta}1,\;{\alpha}6$) for GSCs were highly expressed in the cell colonies. During another culture period of 6 weeks to differentiate to later stage germ cells, the expression of oct-4 mRNA decreased in GSCs and Sertoli cells encapsulated with calcium alginate, but the expression of c-kit and testis-specific histone protein 2B(TH2B) mRNA as well as the localization of c-kit protein was increased. Expression of transition protein (TP-l) and localization of peanut agglutinin were not seen until 3 weeks after culturing, and appeared by 6 weeks of culture. The putative spermatids derived from GSCs supported embryonic development up to the blastocyst stage with normal chromosomal ploidy after chemical activation. Thus, GSCs isolated from neonatal and adult mouse testes were able to be maintained and proliferated in our simple culture conditions. These GSCs have the potential to differentiate into haploid germ cells during another long-term culture.

• Child Health Nursing Research
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• v.7 no.1
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• pp.35-50
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• 2001

The ability of neonates to perceive and react to pain, has been acknowledged recently. Recent researches have been shown that even short term pain can have lasting negative effects. We know that most of the anatomical pathway and neurotrans-mitter function necessary for pain perception are fully or nearly fully developed in the neonatal period. Many people are still reluctant to believe that pain felt by neonates may be as severe as that felt by older children or adults yet. The objective of the study is to assess and compare the analgesic effects of orally administered sucrose and pacifiers. And to determine the synergistic analgesic effects of sucrose and pacifiers. The tools for this study is Lawrence's NIPS (neonatal infant pain scale) with behavioural pain responses and index for pain physiological reponses as heart rate, respiratory rate and degree of SaO₂. The participants are 96 healthy infants of neonatal age 1-7days and randomised to receive heel prick before 2minutes to blood sampling and physiological test in Nursery of K Medical University Hospital on May-July, 2000. The experimental group assigned to one of three treatment groups : no treatment; a pacifier; placebo(2ml 25％ sucrose). Collected data were analyzed with the SAS program using X²-test, ANOVA and Duncan's multiple range test as post hoc. The results were as follows. 1) Pain behaviour responses: The pain score of placebo group(2ml 25％ sucrose) is lower than no treatment group and pacifier group significantly(P=.000). Placebo group is different from no treatment and pacifier group with Duncan's multiple range test. 2) Pain physiologic responses (1) heart rate: The heart rate of placebo group(2ml 25％ sucrose) is different from that of no treatment group and pacifier group significantly(P=.000). The heart rate change of placebo group is less than the other groups. (2) respiratory rate: The respiratory rate of placebo group(2ml 25％ sucrose) is different from that of no treatment group and pacifier group insignificantly (P=.2340). But, the respiratory rate of placebo group is lower than the other groups. (3) SaO₂: The SaO₂ score of placebo group(2ml 25％ sucrose) is different from that of no treatment group and pacifier group insignificantly (P=.3265). But, the change of SaO₂ score of placebo group is less than the other groups. In conclusion, the sucrose placebo showed pain relief effect in behavior responses and less physiological responses. Accordingly, the sucrose placebo should be applied nursing intervention for simple pain management as heel prick.

• Clinical and Experimental Pediatrics
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• v.46 no.12
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• pp.1253-1259
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• 2003

Backgroud : Seizures in the neonate are relatively common and their clinical features are different from those in children and adults. The study aimed to provide the clinical profiles of neonatal seizure in our hospital. Methods : A total of 41 newborns with seizures were enrolled in this study over a period of three years. They were evaluated with special reference to risk factors, neurologic examinations, laboratory data, neuroimaging studies, EEG findings, seizure types, response to treatment, and prognosis, etc. Results : The average age at onset of seizures was $6.1{\pm}4.6days$ and the majority of patients(42%) had multifocal clonic seizure and 24% had subtle seizure. Factors that are known to increase risk of neonatal seizures include abnormal delivery history, birth asphyxia, and electrolyte imbalance, etc. However, they remain obscure in about 20% of cases. More than 50 percent showed abnormal lesions on neuroimaging studies such as brain hemorrhage, periventricular leukomalacia, brain infarction, cortical dysplasia, hydrocephalus, etc. and 17 out of 32 patients showed abnormal electroencephalographic patterns. Phenobarbital was tried as a first line antiepileptic drug and phenytoin was added if it failed to control seizures. The treatments were terminated in the majority of patients during the hospital stay. The overall prognosis was relatively good except for those with abnormal EEG background or congenital central nervous system malformations. Conclusion : Neonatal seizures may permanently disrupt brain development. Better understanding of their clinical profiles and appropriate management may lead to a reduction in neurological disability in later childhood.