• Clinical and Experimental Pediatrics
• /
• v.46 no.4
• /
• pp.404-408
• /
• 2003

Shaken baby syndrome is a serious form of child abuse, mostly involving children younger than 2 years. It results from extreme rotational cranial acceleration induced by violent shaking. The characteristic injuries include subdural hemorrhage, retinal hemorrhage, and fracture of ribs or long bones. If physicians have no recognition of, or suspicion about, shaken baby syndrome, this syndome is difficult to diagnosis because of a lack of obvious external signs and failure of the abuser to admit his or her actions. In addition to the high mortality, 60% of survivors have significant long term neurologic and developmental abnormality. The authors experienced five cases of shaken baby syndrome presented with seizures or vomiting, without external signs of trauma. All of these cases had subdural hemorrhages, and four cases had retinal hemorrahges. In our follow up, two children were found to have sequelae such as quadriplegia, monoplegia, and developmental delay. We emphasize that early recognition and prompt treament are key to overall success of case management. The incidence of shaken baby syndrome can be reduced through public awareness and education of parents not to shake a babies.

• Korean Journal of Biological Psychiatry
• /
• v.21 no.4
• /
• pp.118-127
• /
• 2014

Along with language, socialization is a unique feature of the human being. There is a continuous debate regarding whether the development of socialization is innate, and conducted by the environment in the growing process, or the result of the interaction of both aspects. If socialization is the result of the interaction with the environment or is an acquired developmental process, the following question rises. "Is there a 'critical period' for the development of socialization?" Although there are a huge number of studies seeking for treatment and solutions for developmental delay or deficits of socialization, it is very complicated question to answer. Historical figures such as 'Hugh Blair' of Borgue in England, and 'the wild boy of Aveyron' in France, seem to have innate socialization deficits. Nowadays patients with non-verbal learning disorder, social communication disorder, or autism spectrum disorder seem to have genetic defects. On the other hand, Harry Harlow's monkey experiments, hikikomori of Japan, Romanian orphans and patients with reactive attachment disorder seem to display social deficits due to environmental factors. However, it is not easy to clearly draw a line between innate or acquired factors. Therefore, rather than subdividing the diseases for etiological and pathophysiological approach to heterogenous groups with the common denominator of social deficit, and for the research of pathophysiology and treatment development, the authors suggest a comprehensive concept of "social dysfunction spectrum."

• Journal of Animal Reproduction and Biotechnology
• /
• v.37 no.2
• /
• pp.121-129
• /
• 2022

Heterogeneous nuclear ribonucleoprotein A2/B1 (hnRNPA2/B1) is an N6-methyladenosine (m⁶A) RNA modification regulator and a key determinant of prem-RNA processing, mRNA metabolism and transportation in cells. Currently, m⁶A reader proteins such as hnRNPA2/B1 and YTHDF2 has functional roles in mice embryo. However, the role of hnRNPA2/B1 in porcine embryogenic development are unclear. Here, we investigated the developmental competence and mRNA expression levels in porcine parthenogenetic embryos after hnRNPA2/B1 knock-down. HhnRNPA2/B1 was localized in the nucleus during subsequent embryonic development since zygote stage. After hnRNPA2/B1 knock-down using double stranded RNA injection, blastocyst formation rate decreased than that in the control group. Moreover, hnRNPA2/B1 knock-down embryos show developmental delay after compaction. In blastocyste stage, total cell number was decreased. Interestingly, gene expression patterns revealed that transcription of Pou5f1, Sox2, TRFP2C, Cdx2 and PARD6B decreased without changing the junction protein, ZO1, OCLN, and CDH1. Thus, hnRNPA2/B1 is necessary for porcine early embryo development by regulating gene expression through epigenetic RNA modification.

• Proceedings of the Korean Society of Developmental Biology Conference
• /
• 2003.10a
• /
• pp.82-82
• /
• 2003

Offspring have been produced from somatic cells in a number of species. This biotechnology introduced a new phenomenon in reprogramming and differentiation of somatic cell, namely totipotency. However, birth of oversized calves and perinatal abnormalities such as increased gestation length, lack of spontaneous parturition, higher incidence of dystocia, and reduced perinatal viability of offspring are frequently observed in pregnancies of cloned bovine fetuses. Disturbance of feto-placenta has been proposed as likely causes for abnomal growth. However. Little is known the mechanism responsible for the perinatal problems. Therefore, we focused on gestation length in somatic cell nuclear recipient cows. To solve this issues, placental tissues of control and cloned bovine were obtained by a cesarean section (C-section) before 5 days of paturition. Total RNA from control and cloned bovine placenta was extractd by TRIzol reagent. GeneFishing DEG kits (Seegene) were used to identify differentially expression genes. Total RNA (3 ug) were synthesized by M-MLV reverse transcriptase (200 u/ul) with 10 uM dT-annealing control primer (ACP1) at 42C for 90 min. Then, first-strand cDNA (50 ng) was amplified using the 5 uM arbitary ACP (1-20) and 10 uM dT-ACP2 primers. Some specific expression genes were amplified, Now, we are cloning and sequencing. These finding strongly can be support to solve the problems for parturition delay in nuclear transfer cows, suggest that placenta specific proteins are key indicators for the aberration of gestation and placental function in cows.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.23 no.2
• /
• pp.31-38
• /
• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• Korean Journal of Environmental Biology
• /
• v.38 no.4
• /
• pp.518-527
• /
• 2020

The aim of this study was to define the toxic effects of diuron and irgarol, which are new-antifouling agents, on the fertilization rate and normal embryogenesis rate in the sea urchin, Hemicentrotus pulcherrimus. In addition, the study was intended to confirm the hindrance of development in sea urchins. The fertilization rate of H. pulcherrimus was not decreased by the tested concentrations. However, the normal embryogenesis rate was decreased in a concentration-dependent manner. The 50% effective concentrations (EC₅₀) of normal embryogenesis rate were 7.12 mg L^-1 and 2.31 mg L^-1, respectively. As the embryos developed into pluteus larvae, after 18 h of exposure to diuron and irgarol at EC₅₀, development of the early gastrula stage was delayed, and significant developmental delays were observed after 24 h. After this, continuous developmental delays were observed in the process leading to the early gastrular, gastrular, early pluteus, and pluteus stages. Therefore, the toxic effects of diuron and irgarol on sea urchins were attributed to the delay in the developmental processes in the early life stages. Diuron and irgarol are highly persistent in the environment and have known-well toxic effects on various marine organisms including invertebrates, as shown in this study. Therefore, it is urgent to establish an environmental protection strategy to prevent the pollution of and preserve the marine environment.

• Clinical and Experimental Pediatrics
• /
• v.58 no.1
• /
• pp.28-32
• /
• 2015

Purpose: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. Methods: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. Results: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was $18{\pm}10.5$ months, and diagnosis after symptom onset was made at the mean age of $11{\pm}9.7$ months. The mean z score was $-3.15{\pm}1.14$ for weight, $-0.12{\pm}1.05$ for height, $1.01{\pm}1.58$ for head circumference, and $-1.76{\pm}1.97$ for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. Conclusion: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

• Clinical and Experimental Pediatrics
• /
• v.51 no.4
• /
• pp.426-430
• /
• 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

• Child Health Nursing Research
• /
• v.24 no.1
• /
• pp.58-67
• /
• 2018

Purpose: This prospective study aimed to examine the development of premature infants at 12 and 24 months and to explore the factors related to their development. Methods: Of the 80 premature infants who were recruited, 52 participants at 12 months and 31 participants at 24 months were included in this study. The development of the infants was examined using the Korean Bayley scale of infant development-II. Postnatal depression, husband's support, social support, mother-infant attachment, and the home environment were assessed using self-report questionnaires completed by the mothers and through the researcher's observations. Results: There was significant difference between normal and delay group at psychomotor development at 12 months depending on social support at 6 months (t=2.03, p=.049). Mother-infant attachment at 6 months (r=.71, p<.001), 12 months (r=.37, p=.043), and 24 months (r=.40, p=.026), as well as social support (r=.38, p=.034) and the home environment (r=.41, p=.022) at 24 months, were correlated to mental development at 24 months. There was a significant positive correlation between mother-infant attachment at 6 months and psychomotor development at 24 months (r=.40, p=.046). Conclusion: To reduce the risk of developmental delay and to promote healthy development in premature infants, early nursing interventions targeting mother-infant attachment, the home environment, and the mother's social support structure are needed.

• Journal of the Korean Society of Food Culture
• /
• v.10 no.1
• /
• pp.67-74
• /
• 1995

This study researched microbial change of quality according to the various phases of product flow of cooked pea and rice, cold cucumber and seaweed soup, soybean sprouts japchae feeding urban type of a commissary school and a satellite school in Daejeon area, also it suggested the possibility that the central commissary foodservice system can be established and utilized more developmental to identify its food of variation of temperature and state of safety unitl 3 hours after cooking for the case of delay of distribution and holding because of the satellite school of geographical location and traffic problem. The critical Control Points identified for each category of menu items were: Boiled pea and rice: inadequate distribution, holding and storing before assembly; Cold cucumber and seaweed soup: pre-preparation and post-preparation after cooking; Soybean sprouts japchae: Pre-preparation, post-preparation and storing. As the result of observation of the variation of temperature and microbial safety according to the delay of distribution and holding for each food, all of them were relatively safe until 3 hours after cooking, but cold cucumber and seaweed soup being stored for 3 hours, the value of E. coli is $10^3$ CFU/g. The variation of temperature was more extreme in soybean sprouts japchae than cooked pea and rice and cold cucumber and seaweed soup. It was proved that the stainless container was excellent and that adequate holding container should be used.