• Journal of Genetic Medicine
• /
• v.5 no.1
• /
• pp.1-6
• /
• 2008

Knowledge of developmental biology is essential for clinicians who seek to develop a rational approach to the diagnostic evaluation of patients with birth defects. After an accurate diagnosis, a clinician can make predictions about prognosis, recommend management options, and provide an indication of recurrence risk for the parents and relatives. In this paper, we first review the basic mechanisms of embryological development and clinical dysmorphology. We then review cellular and molecular mechanisms in development and related congenital anomalies. Developmental anomalies have a major impact on public health. Genetic counseling and prenatal diagnosis, with the option to continue or to terminate a pregnancy, are important for helping families faced with the risk of a serious congenital anomaly in their offspring. Moreover, primary prevention of birth defects, for example, supplementation of prenatal folic acid and prevention of consumption of alcohol which has teratogenic effects, can be accomplished using developmental biology knowledge.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.50 no.2
• /
• pp.192-204
• /
• 2023

This study aimed to determine the criteria for quantifying developmental defects of enamel in primary teeth in premature babies and to investigate the severity of developmental defects according to the gestational age, birth weight, systemic complications, and treatments received after preterm birth. Birth information, a history of complications, the duration of parenteral nutrition, and endotracheal intubation were investigated by retrospectively reviewing the admission and discharge records of premature babies in the neonatal intensive care unit. The Preterm Developmental Defects of Enamel (PDDE) index was designed by modifying the existing developmental defects of enamel index. Based on PDDE index, the evaluator scored developmental defects of enamel by classifying them as enamel hypomineralization and hypoplasia. The PDDE scores in the extremely preterm and extremely low birth weight groups were significantly higher than those in other groups. Furthermore, PDDE scores of premature babies with bronchopulmonary dysplasia, rickets, intraventricular hemorrhage, or necrotizing colitis were significantly higher than those in the control group. In addition, more than 50 days of endotracheal intubation and more than 20 days of parenteral nutrition were associated with significantly higher PDDE scores than those in the control group and were risk factors for developmental defects of enamel. This study provides basic information for identifying risk factors for developmental defects of enamel in premature babies.

• Korean Journal of Radiology
• /
• v.21 no.12
• /
• pp.1294-1304
• /
• 2020

Objective: To determine whether T1 mapping could monitor the dynamic changes of injury in myocardial infarction (MI) and be histologically validated. Materials and Methods: In 22 pigs, MI was induced by ligating the left anterior descending artery and they underwent serial cardiovascular magnetic resonance examinations with modified Look-Locker inversion T1 mapping and extracellular volume (ECV) computation in acute (within 24 hours, n = 22), subacute (7 days, n = 13), and chronic (3 months, n = 7) phases of MI. Masson's trichrome staining was performed for histological ECV calculation. Myocardial native T1 and ECV were obtained by region of interest measurement in infarcted, peri-infarct, and remote myocardium. Results: Native T1 and ECV in peri-infarct myocardium differed from remote myocardium in acute (1181 ± 62 ms vs. 1113 ± 64 ms, p = 0.002; 24 ± 4% vs. 19 ± 4%, p = 0.031) and subacute phases (1264 ± 41 ms vs. 1171 ± 56 ms, p < 0.001; 27 ± 4% vs. 22 ± 2%, p = 0.009) but not in chronic phase (1157 ± 57 ms vs. 1120 ± 54 ms, p = 0.934; 23 ± 2% vs. 20 ± 1%, p = 0.109). From acute to chronic MI, infarcted native T1 peaked in subacute phase (1275 ± 63 ms vs. 1637 ± 123 ms vs. 1471 ± 98 ms, p < 0.001), while ECV progressively increased with time (35 ± 7% vs. 46 ± 6% vs. 52 ± 4%, p < 0.001). Native T1 correlated well with histological findings (R² = 0.65 to 0.89, all p < 0.001) so did ECV (R² = 0.73 to 0.94, all p < 0.001). Conclusion: T1 mapping allows the quantitative assessment of injury in MI and the noninvasive monitoring of tissue injury evolution, which correlates well with histological findings.

• Genomics & Informatics
• /
• v.6 no.4
• /
• pp.173-180
• /
• 2008

The human genome has evolved as a consequence of evolutionary forces, such as natural selection. In this study, we investigated natural selection on the human genes by comparing the numbers of nonsynonymous (NS) and synonymous (S) mutations in individual genes. We initially collected all coding SNP data of all human genes from the public dbSNP. Among the human genes, we selected 3 different selection groups of genes: positively selected genes (NS/S${\geq}$3), negatively selected genes (NS/S${\leq}$1/3) and neutral selection genes (0.9

• Korean Journal of Clinical Laboratory Science
• /
• v.39 no.3
• /
• pp.151-155
• /
• 2007

Diagnosis and prevention of cytogenetics diseases are one of the most important parts in prenatal care. For that reason, it is necessary to examine birth defects. However, there is no reliable statistical data about birth defects in our country. In this study, the ratio of birth defects were determined by cytogenetics analysis and amniocentesis, in addition, the usefulness of amniocentesis was analyzed. The screening test and the triple marker test were conducted for 3,325 pregnant women of between 15 and 22 weeks gestation. Amniocentesis was performed for 170 pregnant women who were positive in the two tests, 184 women of advanced maternal age and 48 women with family history of chromosome aberrations. Among 419 women, 8 pregnant women who were positive in the triple marker test, 1 woman who close to the cut-off value in the triple marker test, 2 women with advanced maternal age and 1 woman who has history of chromosome aberration pregnance that was positive in cytogenetics analysis. The overall incidence of chromosomal aberration was 12 cases including 7 cases of Down's syndrome, 1 case of Patau syndrome, 1 case of Klinefelter syndrome, 1 case of Edward syndrome, 1 case of Robertsonian translocation and 1 case of XYY syndrome. These results show that amniocentesis for pregnant women who need chromosome test in prenatal cytogenetics analysis is very useful.

• Clinical and Experimental Pediatrics
• /
• v.64 no.6
• /
• pp.269-279
• /
• 2021

Clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9 (CRISPR-Cas9) is an ancient prokaryotic defense system that precisely cuts foreign genomic DNA under the control of a small number of guide RNAs. The CRISPR-Cas9 system facilitates efficient double-stranded DNA cleavage that has been recently adopted for genome editing to create or correct inherited genetic mutations causing disease. Congenital heart disease (CHD) is generally caused by genetic mutations such as base substitutions, deletions, and insertions, which result in diverse developmental defects and remains a leading cause of birth defects. Pediatric CHD patients exhibit a spectrum of cardiac abnormalities such as septal defects, valvular defects, and abnormal chamber development. CHD onset occurs during the prenatal period and often results in early lethality during childhood. Because CRISPR-Cas9-based genome editing technology has gained considerable attention for its potential to prevent and treat diseases, we will review the CRISPR-Cas9 system as a genome editing tool and focus on its therapeutic application for CHD.

• Journal of Veterinary Clinics
• /
• v.26 no.5
• /
• pp.467-471
• /
• 2009

This report describes Neural Tube Defects (NTDs) with Abdominal Wall Defects (AWDs) on the sibling of Yorkshire terriers. The NTDs and AWDs are rare serious congenital defects. The NTDs are neurulation abnormality that results from to failed transformation of the neurual tube by the incomplete closure of the embryonic neural plate. These dysraphic states range form mild to severe according to developmental malformation that include fusion defects of skull (crania bifida; CB) and fusion defects of vertebrae (spina bifida; SB). The AWDs are genetic defects that results from to failed formation of abdominal wall and cavity. These dysraphic states are omphalocele and gastroschisis. The 12-month dam was delivered by caesarian section and 4 littermate had obvious malformations. One male dead stillbirth fetus (L1) was revealed the extruded abdominal viscera, omphalocele. One female fetus (L2) was died within 1 hour after birth with defects of abdominal muscle upper umbilicus, gastroschisis. 3rd fetus (L3) was died within 36 hours after parturition and revealed a copious dermal and vertebral defects on the midline thorax, upper SB asperta. 4th fetus (L4) is still growing well now at 6 months but at the 2 week age, appears hairy nevus on the frontal cranium and dorsal thoracic portion. The radiograph of L1 and L2 are shown decrease bony density of calvarium and L3 was shown defect of spinose processes of the T9-T13. On our knowledge, this is first report of the SB and CB in Yorkshire terrier. And also sibling of NTDs with AWDs that has not previously been reported in the dog.

• Proceedings of the Korea Environmental Mutagen Society Conference
• /
• 2002.05a
• /
• pp.48-64
• /
• 2002

The primary recognized health risk from common deficiencies in glucose-6-phosphate dehydrogenase (G6PD), a cytoprotective enzyme for oxidative stress, is red blood cell hemolysis. Here we show that litters from untreated pregnant mutant mice with a hereditary G6PD deficiency had increased prenatal (fetal resorptions) and postnatal death. When treated with the anticonvulsant drug phenytoin, a human teratogen that is commonly used in pregnant women and causes embryonic oxidative stress, G6PD-deficient dams had higher embryonic DNA oxidation and more fetal death and birth defects. The reported G6PD gene mutation was confirmed and used to genotype fetal resorptions, which were primarily G6PD deficient. This is the first evidence that G6PD is a developmentally critical cytoprotective enzyme for both endogenous and xenobiotic-initiated embryopathic oxidative stress and DNA damage. G6PD deficiencies accordingly may have a broader biological relevance as important determinants of infertility, in utero and postnatal death, and teratogenesis.-Nicol, C. J., Zielenski, J., Tsui, L.-C., Wells, P. G. An embryoprotective role for glucose-6-phosphate dehydrogenase in developmental oxidative stress and chemical teratogenesis.

• Nuclear Engineering and Technology
• /
• v.55 no.8
• /
• pp.2977-2983
• /
• 2023

During normal operation, some parts of the fission product in the defective fuel rods can release into the primary loops in PWR and the escape rate coefficients are widely used to assess quantitatively the release behaviors of fission products in the industry. The escape rate coefficients have been standardized and have been validated by some drilling experiments before the 1970s. In the paper, the model to determine the escape rate coefficients of fission products has been established and the typical escape rate coefficients of noble gas and iodine have been deduced based on the measured radiochemical data in one operating PWR. The result shows that the apparent escape rate coefficients vary with the release-to-birth and decay constants for different fission products of the same element. In addition, it is found that the escape rate coefficients from the defective rod with large defects are much higher than the standard escape rate coefficients, i.e., averagely 4.4 times and 1.8 times for noble gas and iodine respectively. The enhanced release of fission products from the severe secondary hydriding of several defective fuel rods in one cycle may lead to the potential risk of the temporary shutdown of the operating reactors.

• Nutrition Research and Practice
• /
• v.12 no.1
• /
• pp.78-84
• /
• 2018

BACKGROUND/OBJECTIVES: Folic acid supplementation before pregnancy is known to reduce the risk of neural tube defects. The purposes of this study were to investigate the awareness, knowledge, and use of folic acid supplements along with their associated factors among non-pregnant Korean women of childbearing age. SUBJECTS/METHODS: From August 2012 to March 2013, 704 women aged 19-45 years completed a self-administered questionnaire regarding their awareness, knowledge, and use of folic acid as well as questions to identify risk of inadequate folate intake. RESULTS: Approximately 67% of women reported that they had heard of folic acid, and 23.7% had knowledge of both the role of folic acid in preventing birth defects and appropriate time for taking folic acid supplements to prevent birth defects. However, only 9.4% of women took folic acid supplements at the time of the survey. Women aged 19-24 years, unmarried women, and women who had never been pregnant were less likely to be aware and knowledgeable of folic acid or take folic acid supplements. In addition, women at high risk of inadequate folate intake were less likely to take folic acid supplements. In a multivariate analysis, women aged 19-24 years, women with a high school diploma or lower education level, and unmarried women were less likely to be aware and have knowledge of folic acid. The percentage of women taking folic acid supplements was significantly higher among knowledgeable women than among unknowledgeable women. CONCLUSIONS: These results support our hypothesis that women with knowledge of folic acid are more likely to take folic acid supplements. Therefore, educational programs or campaigns to improve knowledge regarding the importance of folic acid and to promote consumption of folic acid supplements as well as folate-rich foods are needed to target young, less educated, and unmarried women.