Kim, Seong Wan;Jang, Ju Young;Lee, Jang Hoon;Sohn, Young Bae;Jang, Ja-Hyun
Journal of The Korean Society of Inherited Metabolic disease
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v.20
no.1
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pp.24-28
/
2020
Type III Glycogen storage disease (Type III GSD, OMIM#232400) is a genetic metabolic disorder in which undigested glycogen accumulates in the organs due to lack of glycogen debranching enzyme caused by AGL mutation. The clinical symptoms of type III GSD include hepatomegaly, delayed growth, hypoglycemia and muscle weakness. These clinical symptoms are similar to those of other types of GSD, making it difficult to distinguish clinically. The authors report a case of type III GSD diagnosed by gene panel sequencing. A 11-month old male patient was presented with hepatomegaly. In liver biopsy, glycogen was accumulated in hepatocytes, suggesting GSDs. For differential diagnosis of types of GSD, gene panel sequencing for GSDs was performed. As a result, two novel pathogenic compound heterozygous variants: c.311_312del (p.His104Argfs*15) and c.3314+1G>A in AGL were detected and the patient was diagnosed as type III GSD. After diagnosis, he started dietary treatment with cornstarch, and has been free from complications. After two years, two same variants were also identified in the chorionic villous sampling of the pregnant mother, and the fetus was diagnosed as type III GSD. Gene panel sequencing is useful for diagnosis of disease which is indistinguishable by clinically and has high genetic heterogeneity, such as GSD. After diagnosis, familial genetic analysis can provide adequate genetic counseling and rapid diagnosis.
Park, Sang-Hoon;Lee, Mi-Ran;Kim, Tae-Suk;Baek, Sang-Ki;Jin, Sang-Jin;Kim, Jin-Wook;Jeon, Sang-Gon;Yoon, Ho-Baek;Lee, Joon-Hee
Reproductive and Developmental Biology
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v.38
no.4
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pp.147-158
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2014
Differentiated nuclei can experimentally be returned to an undifferentiated embryonic status after nuclear transfer (NT) to unfertilized metaphase II (MII) oocytes. Nuclear reprogramming is triggered immediately after somatic cell nucleus transfer (SCNT) into recipient cytoplasm and this period is regarded as a key stage for optimizing reprogramming. In a recent study (Dai et al., 2010), use of m-carboxycinnamic acid bishydroxamide (CBHA) as a histone deacetylase inhibitor during the in vitro early culture of murine cloned embryos modifies the acetylation status of somatic nuclei and increases the developmental competence of SCNT embryos. Thus, we examined the effects of CBHA treatment on the in vitro preimplantation development of porcine SCNT embryos and on the acetylated status of histone H3K9 on cloned embryos at the zygote stage. We performed the three groups SCNT: SCNT (NT), CBHA treatment at the porcine fetus fibroblast cells (PFFs) used as donor cells prior to SCNT (CBHA-C) and CBHA treatment at the porcine SCNT embryos during the in vitro early culture after oocyte activation (CBHA-Z). The PFFs were treated with a $15{\mu}M$ of CBHA (8 h) for the early culture and the porcine cloned embryos were treated with a $100{\mu}M$ concentration of CBHA during the in vitro early culture (10 h). Cleavage rates and development to the blastocyst stage were assessed. No significant difference was observed the cleavage rate among the groups (82.6%, 76.4% and 82.2%, respectively). However, the development competence to the blastocyst stage was significantly increased in CBHA-Z embryos (22.7%) as compared to SCNT and CBHA-C embryos (8.6% and 4.1%)(p<0.05). Total cell numbers and viable cell numbers at the blastocyst stage of porcine SCNT embryos were increased in CBHA-Z embryos as compared to those in CBHA-C embryos (p<0.05). Signal level of histone acetylation (H3K9ac) at the zygote stage of SCNT was increased in CBHA-Z embryos as compared to SCNT and CBHA-C embryos. The results of the present study suggested that treatment with CBHA during the in vitro early culture (10 h) had significantly increased the developmental competence and histone acetylation level at the zygote stage.
Kim, Chang-Seok;Park, Hae-Mo;Shin, Hun-Tae;Lee, Jang-Woo;Kim, Kyung-Tae;Kim, Pan-Gyi;Lee, Sun-Dong;Han, Sang-Baek;Hahn, Yong-Joo
Journal of Society of Preventive Korean Medicine
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v.10
no.2
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pp.31-49
/
2006
This study was undertaken to investigate the effects of Gyoaesamultang in pregnant rats and their fetuses. Female Sprague-Dawley rats were orally administered with the Gyoaesamultang at dose of 5mg/kg/day for 20 days. Pregnant rats were sacrificed at 20th day of gestation, and observed internal and reproductive organs. Approximately, live fetuses in the 20th day of gestation were randomly selected and fixed in 95% ethanol. To observe skeletal malformations, fetuses were stained with alcian blue and alizarin red S. Maternal body weight of Gyoaesamultang treated group has a tendency to increase compared to that of control group. There were no significant difference in internal and reproductive organs. There were no significant changes between two groups in blood chemistry and hematological values. There were no significant changes in number of corpus luteum, implantation, live fetuses and implantation rate, delivery rate, late resorption rate and sex ratio. But Gyoaesamultang administered group showed lower early resorption rate than the control group. Neonatal body weight and number of fetus of Gyoaesamultang group were increased to that of control group. The fetuses of dams treated with Gyoaesamultang didn't showed external malformation. Vertebral and sternal variations were observed in Gyoaesamultang group but, compared to the control, those variations were insignificant. The number of ribs, cervical, thoracic, and lumber were normal. The number of sacral and caudal vertebrae were increased. Fetuses treated with Gyoaesamultang showed significant difference in the number of caudal vertebra(P<0.01). From these results, it can be concluded that Gyoaesamultang showed no toxicity effects on maternal body weight, early resorption rate, and number of live fetuses. There were no significant changes in organ weight, hematological data, reproductive organs. Although skeletal variations were showed in vertebrate and sternum, Gyoaesamultang were shown insignificant changes in bone malformation.
The rate of fetus with abnormal chromosomes increase with maternal age. Nondisjunction of aging oocyte chromosome is a major reason for the increased rate of abnormalities. Telomeres are the ends of eukaryotic chromosome, which are essential for chromosome stability and are related in cell senescence. This study was carried out to analyze the chromosome aberration rate and amount of telomeric DNA in chick embryo along with maternal age. Fertilized eggs and blood were sampled from White Leghorn layers starting at 20 weeks through to 70 weeks age at 10 weeks interval. Chromosome aberration rate was analyzed by karyotyping. The amounts of telomeric DNA in embryonic cells and lymphocytes were quantified by Quantitative Fluorescence in situ Hybridization method. The chromosome aberration rate in chick embryos significantly differed with maternal age. The chromosome aberration rate increased at early laying period and beyond 70 weeks of maternal age. Therefore, chromosome aberration rate was affected by maternal age due to ovulated oocytes state. However, the amount of telomeric DNA on embryonic cells did not differ significantly with maternal age. Thus, maternal age does not affects telomere quantity in their embryos due to cellular reprograming at early embryonic stage after fertilization.
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.
The regional distribution and relative frequency of the pancreatic polypeptide (PP)-immunoreactive cells in the pancreas of the Korean native goat (Capra hircus) were studied by immunohistochemical methods (PAP methods) using specific antisera against to PP during developmental stage, fetus, neonate, 1-month-old, 6-month-old and adult. The different regional distribution and relative frequency of PP-immunoreactive cells in the pancreas of Korean native goat were observed during development. In the exocrine portions, they were detected in the all ages and distributed in the interacinar regions. PP-immunoreactive cells were increased from neonate to 1-month-old but thereafter decreased with developmental stage. In the pancreatic duct, PP-immunoreactive cells were demonstrated from 1-month-old but they were decreased with developmental stages in these regions. These cells were observed in the subepithelial connective tissue of the pancreatic duct with a few frequencies in 1-and 6-month-old. However, they were located in the interepithelial cells of the pancreatic duct in the adult with rare frequency. In the endocrine portion (pancreatic islets), PP-immunoreactive cells were observed from neonate, and the regional distribution of PP-immunoreactive cells from 1-month-old was divided into two patterns : dispersed 1) in the marginal regions of the pancreatic islets with moderate or a few frequencies, and 2) in the whole pancreatic islets (in a case of 1-month-old) or in the central cores (in a case of 6-month-old and adult) with numerous frequency. In conclusion, the different regional distribution and relative frequency of PP-immunoreactive cells in the pancreas of the Korean native goat were observed during development. It is suggested that the changing of feeding habits and physiological conditions during different developmental stages may cause these differences.
The purpose of this study was to find out physical and emotional status, and nursing needs of the pregnant women who were hospitalized by premature labor. The research respondents were 96 from four university hospitals located in Seoul, from June 30, 1996 to September 15, 1995. The research instrument was consisted of 14 items of physical status(discomforts) (Cronbach's=0.86), 17 items of emotional status (Cronbach's=0.89), 33 items of nursing needs (Cronbach's=0.94), and they were measured by 5 level of Likert Scale. The data were analyzed by frequency, percentage, mean standard deviation, ANOVA, Pearson correlation coefficient as the statistical techniques in the program of SPSS/$PC^+$. The findings were as follows : 1. The perception of physical status was mainly about physicl discomforts during the hospital stay. It included four categories about 'absolute bed rest' 3.48, 'hospital foods' 3.38, 'health care teams' 2.93, 'hospital environment' 2.83 in order of mean of discomforts. The most discomfortable one was "malodor by not doing personal hygiene." The next one was "urination and defecation on the bed using bedpan." 2. The perception of the emotional status was about negative mood related to 'fetus', 'hospitalization' perse, 'personal situation.' The highest score of negative mood was "I am afraid that the baby's condition will be bad if I deliver it before full term." The next one was "I am anxious about whether my baby will be in incubator if I deliver it before full term." 3. The highest mean score among items of nursing needs was "Nurses observe whether the labor come or not with concerns." The next one was "Nurses observe the fetal movement and check up the fetal heart sound." The lowest one was "Nurses help me when I need bedpan." 4. Nursing needs were consisted of four categories : professional, educational, emotional, and physical. The mean score of them was high in professional, educational, emotional, and physical need in order. 5. The physical status was related to "Experience of treatment for maintenance of pregnancy" and "Experience of hospitalization by premature labor". The emotional status was related to "Type of delivery" and "Type of habitation." 6. In the correlation of physical and emotional status, it showed positive correlation between them. The higher score of physical discomfort, the higher score of negative mood(r=0.5113, p=0.0001).
The experiments were undertaken to evaluate the effects of herbal medicine, Bojungiggitang and Gwibitang in pregnant rats and their fetuses. Female Sprague-Dawley rats were orally administered with the Bojungiggitang and Gwibitang at dose of 5ml/kg/day for 20 days. Pregnant rats were sacrificed at 20th day of gestation, and the internal and reproductive organs. Approximately live fetuses in the 20th day of gestation were randomly selected and fixed in 95% ethanol. To observe skeletal malformations, fetuses were stained with alcian blue and alizarin red S. Maternal body weights of Bojungiggitang and Gwibitang treated group has a tendency to increase compared to that of control group. There were no significant differences in internal and reproductive organs. There were no significant changes between two groups in blood chemistry and hematological values. There were no significant changes in number of corpus luteum, implantation and live fetuses. But Bojungiggitang and Gwibitang administered group showed higher implantation rate than the control group. Also, Bojungiggitang and Gwibitang administered groups showed lower early resorption rate than the control group. And Gwibitang had the higher value in all the other groups in all items. From the sex ratio, the number of females were larger than the number of males in the control group, and more males than females in Gwibitang administered group. Neonatal body weight and the number of fetus of Bojungiggitang and Gwibitang group were higher than that of control group. The fetuses of dams treated with Bojungiggitang and Gwibitang did not show external malformation. Vertebral and sternal variations were observed in Bojungiggitang and Gwibitang administered group compared to the control group. Those variations were insignificant. There were no significant changes in number of ribs, cervical, thoracic, lumbar, sacral and caudal vertebras. From these results, it can be concluded that Bojungiggitang and Gwibitang showed no toxic effects on maternal body weight and the number of live fetuses. There were no significant changes in organ weight, hematological data, and reproductive organs. Although skeletal variations were shown in vertebra and sternum, Bojungiggitang, Gwibitang were shown insignificant changes in bone malformation.
Kim, Chang-Seok;Park, Hae-Mo;Lee, Sun-Dong;Lee, Jang-Woo;Kim, Pan-Gyi;Shin, Heon-Tae
Journal of Environmental Health Sciences
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v.33
no.4
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pp.306-316
/
2007
This study have a object to found out the effects of oriental herb medicine, Antaeeum, to dams of rats and their offsprings. The Antaeeum was savaged to female Sprague-Dawley rats at a dose of 5 mg/kg/day for 3 weeks during gestation periods. Dams of rat were sacrificed at 20th day of gestation, and were observed major internal and reproductive organs. Approximately live fetuses in the 20th days of gestation were selected randomly and examined with stereo microscopes. Others offsprings were fixed with 95% ethanol for skeletal examinations. The fixed fetuses were stained with alcian blue and alizarin red S to observe skeletal variations or malformations. Maternal body weight of Antaeeum treated dams have a tendency of increasing compared with control dams. There were no significant difference in internal and reproductive organs of weight or findings. The spleenic organ relative weight of treated dams were decreased compared with the control significaltly (p<0.05). There were no significant changes between two groups in blood chemistry and hematological values. There were no significant changes in number of corpus luteum, implantation, live fetuses and implantation rate, delivery rate, late resorption rate and sex ratio. But in the Antaeeum treated group showed lower early resorption rate than that of the control dams. Fetal body weight and number of fetus a dam at Antaeeum treated group were higher than that of control group. The fetuses of dams treated with Antaeeum didn't induced external malformations. Vertebral and sternal variations were observed in Antaeeum group, but compared with the control, those variations were not significant. The ossification numbers of rib, cervical, thoracic, and lumber were normal. Fetuses treated with Antaeeum to the dams showed no significant difference in the number of caudal vertebra (P>0.01). From these results, it can be concluded that Antaeeum showed no toxicity effects on maternal side especially on body weight, early resorption rate, and number of live fetuses. Also there were no significant changes on maternal organ weights except spleen, hematological data, reproductive organs. Although skeletal variations were examined at vertebra and sternum, this Antaeeum could not induced significant choses in bone malformation.
Gap junctional intercellular communication (GJIC) plays a key role during development, process of tissue differentiation, and in maintenance of adult tissue homeostasis. Neural stem cells leading to formation of cell clusters termed 'neurospheres', can differentiate into neurons, oligodendrocytes, and astrocytes. We investigated the expression levels and distribution of connexin43 (Cx43) and connexin32 (Cx32), abundant gap junctional protein in neural cells and in neurospheres isolated from rat fetus embryonic day (ED) 17. During differentiation of neurospheres, expression of Cx43 and 32 were increased time-dependently within 72 h, and then decreased at 7 day in western blot analysis. TPA-induced inhibition of GJIC was confirmed by decreased fluorescence by SL/DT assay, and induced hyperphosphorylation of Cx43 while no changes in Cx32 levels in western blot assay. Our results indicate that GJIC may be a crucial role in the differentiation of neuronal stem cell. And this GJIC can be inhibited by TPA through the hyperphosphorylation of Cx43.
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