• The Journal of the Korean dental association
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• v.9 no.1
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• pp.43-48
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• 1971

The purpose of this study is to evaluate the influence of genetics of the dimensions of dental arches in twins. Thirty-four pairs of Korean twins, of which twenty-three were monozygotic and eleven dizygotic, participated in the study. The twins ranged in age from 6 years to 12 years with mixed dentition. The results were as follows: 1) No significant differences were observed between male and female in mean interpair diffenences of monozygotic twins. 2) Mean interpair differences of monozygotic twins were lesser than these of dizygotic twins. 3) Highly significiant zygotic differences were observed in the mean interpair differences of the width of upper and lower dental arch. This suggest that there is a significant component of hereditary variability.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.16 no.3
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• pp.195-199
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• 2013

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

• The korean journal of orthodontics
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• v.49 no.1
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• pp.3-11
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• 2019

Objective: The purpose of this study was to investigate the influence of heritability on the craniofacial soft tissue cephalometric characteristics of monozygotic (MZ) twins, dizygotic (DZ) twins, and their siblings (SIB). Methods: The samples comprised Korean adult twins and their siblings (mean age, 39.8 years; MZ group, n = 36 pairs; DZ group, n = 13 pairs of the same gender; and SIB group, n = 26 pairs of the same gender). Thirty cephalometric variables were measured to characterize facial profile, facial height, soft-tissue thickness, and projection of nose and lip. Falconer's method was used to calculate heritability (low heritability, $h^2$ < 0.2; high heritability, $h^2$ > 0.9). After principal components analysis (PCA) was performed to extract the models, we calculated the intraclass correlation coefficient (ICC) value and heritability of each component. Results: The MZ group exhibited higher ICC values for all cephalometric variables than DZ and SIB groups. Among cephalometric variables, the highest ${h^2}_{(MZ-DZ)}$ and ${h^2}_{(MZ-SIB)}$ values were observed for the nasolabial angle (NLA, 1.544 and 2.036), chin angle (1.342 and 1.112), soft tissue chin thickness (2.872 and 1.226), and upper lip thickness ratio (1.592 and 1.026). PCA derived eight components with 84.5% of a cumulative explanation. The components that exhibited higher values of ${h^2}_{(MZ-DZ)}$ and ${h^2}_{(MZ-SIB)}$ were PCA2, which includes facial convexity, NLA, and nose projection (1.026 and 0.972), and PCA7, which includes chin angle and soft tissue chin thickness (2.107 and 1.169). Conclusions: The nose and soft tissue chin were more influenced by genetic factors than other soft tissues.

• Clinical and Experimental Pediatrics
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• v.57 no.4
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• pp.157-163
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• 2014

Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in genes encoding surfactant-associated molecules have confirmed this. Specific genetic variants contributing to the regulation of pulmonary development, its structure and function, or the inflammatory response could be candidate risk factors for the development of RDS. This review summarizes the background that suggests the genetic predisposition of RDS, the identified mutations, and candidate genetic polymorphisms of pulmonary surfactant proteins associated with RDS.

• Journal of Society of Preventive Korean Medicine
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• v.14 no.2
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• pp.1-12
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• 2010

The individual differences in disease development and susceptibility have been researched primarily on the subject of genes, environment or the interaction between genes and the environment respectively. However, there have been limitations in explaining complex diseases, and the differences in health and diseases in monozygotic and dizygotic twins. Fortunately, thanks to active research on the relationship between genes and the environment, and epigenetics, there has been much progress in the understanding of body's reactions and changes. Epigenetics is referred to as a study of gene expression through the interactions of DNA methylation, chromatin's histone and the change of structure in tail, RNA editing without any change in DNA sequence. In this paper, we introduce the basic concepts and mechanisms of epigenetics. The result of the epigenetics is heritable ; can regulate gene expressions ; is reversible ; and has many variable forms depending on cell types. The influences of epigenetics occur throughout life, but it is mainly determined in utero during early pregnancies. Diseases occur or the risk rises if these influences continue after birth until adult life when problems occur in excess/lack of nutrition, environmental plasticity, or already inputted data. Therefore, there is a need for change and innovation, especially in interest and investment in health education for young women near pregnancies and correct treatment of epigenetic-related diseases.

• Clinical and Experimental Reproductive Medicine
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• v.41 no.4
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• pp.168-173
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• 2014

The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

• Advances in pediatric surgery
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• v.1 no.1
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• pp.8-17
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• 1995

The clinical experience of 2,340 inguinal hernia repaired by one pediatric surgeon on 2,079 children at Hanyang University Hospital from September 1979 to December 1993 was analyzed. Of 2,046 patients who had primary hernia repairs at Hanyang University Hospital, 1,636 were male and 410 female, and 55.5% of hernias occurred on the right side, 36.0% on the left, and 8.6% were bilateral. The patients presented hernia under the age of 12 months were 45.3% and those performed herniotomy under the age of 12 months were 25.5%. Birth weight was less than 2.5kg in 111 patients(8.7%) of 1,279 data available patients. Ninety(6.6%) of 1,354 data available patients were premature(<37wks gestation). The proportions of bilateral inguinal hernia and the onset age under 12 months of life in low birth weight babies and premature babies were higher than in full-term babies. Incarcerated inguinal hernia occurred in 327 patients(16.0%) of whom 8 patients were strangulated hernias. The occurrence of incarceration inversely related with age of patients. The subsequent contralateral inguinal hernia following unilateral hernia repairs occurred in 80 patients(4.3%) among which 72 were male and 8 were female. The incidence of contralateral inguinal hernia was more frequent in boys(4.8%) than girls (2.2%) and in cases after left herniotomy(6.4%) than after right herniotomy(2.9%). Sixty percent of contralateral inguinal hernia developed within 1 year after primary hernia repair. The recurrence of inguinal hernia occurred in 6 patients(0.27%) treated at our hospital primarily. There were one or more associated congenital anomalies in 83 patients of which congenital heart diseases were the most common. Sliding hernia occurred in 25 patients consisted of 5 boys and 20 girls. Family history was noted in 35 patients and there were 28 sets of monozygotic and 3 sets of dizygotic twins.

• The korean journal of orthodontics
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• v.51 no.6
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• pp.407-418
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• 2021

Objective: To investigate differences in the heritability of skeletodental characteristics between twin pairs with skeletal Class I and Class II malocclusions. Methods: Forty Korean adult twin pairs were divided into Class I (C-I) group (0° ≤ angle between point A, nasion, and point B [ANB]) ≤ 4°; mean age, 40.7 years) and Class II (C-II) group (ANB > 4°; mean age, 43.0 years). Each group comprised 14 monozygotic and 6 dizygotic twin pairs. Thirty-three cephalometric variables were measured using lateral cephalograms and were categorized as the anteroposterior, vertical, dental, mandible, and cranial base characteristics. The ACE model was used to calculate heritability (A > 0.7, high heritability). Thereafter, principal component analysis (PCA) was performed. Results: Twin pairs in C-I group exhibited high heritability values in the facial anteroposterior characteristics, inclination of the maxillary and mandibular incisors, mandibular body length, and cranial base angles. Twin pairs in C-II group showed high heritability values in vertical facial height, ramus height, effective mandibular length, and cranial base length. PCA extracted eight components with 88.3% in the C-I group and seven components with 91.0% cumulative explanation in the C-II group. Conclusions: Differences in the heritability of skeletodental characteristics between twin pairs with skeletal Class I and II malocclusions might provide valuable information for growth prediction and treatment planning.