• 대한예방한의학회지
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• 제14권1호
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• pp.1-12
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• 2010

This research was intended to delve into the diversity of life phenomenon and its characteristics. First of all, this research gave real examples to compare the differences in men's health, disease, and longevity in order to confirm the existence of diversity of life phenomenon. In addition, it also studied the process and mechanism of manifestation of life phenomenon, as well as the influence and problems of existing studies' results and implications. The results are as follow. 1. Differences in health, diseases, and longevity were very big and diverse in researches on different races, nations, ages, socioeconomic status, positions, and even (monozygotic) twins. 2. The basic foundation of all organisms is DNA, and environmental factors change DNA methylation and the structure of chromatin by constantly influencing DNA. Due to this, the manifestation, control, and phenotype of DNA change, resulting in diversified life phenomenon. Therefore, it is the environmental factors, not DNA, that has more influence on the diversity of life. 3. Looking at available studies, the most reasonable perspective on human requires focusing on the diversity of life phenomenon, holistic thinking, and reversible change instead of irreversible determinism. Considerable differences in life phenomenon between entities require a change in malformed perspective on life. Public health and medicine deals with live human beings, a more precise and accurate perspective on life is very important. Because management methods of health and disease, such as structure and approaches of medical research, prevention and cure, must be different by life perspectives.

• Childhood Kidney Diseases
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• 제25권1호
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• pp.35-39
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• 2021

Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

• 대한예방한의학회지
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• 제14권2호
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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.

• Advances in pediatric surgery
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• 제1권1호
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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.

• 대한치과교정학회지
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• 제51권6호
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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.

• 대한유전성대사질환학회지
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• 제12권1호
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• pp.58-63
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• 2012

고전적 갈락토오스혈증(classical galactosemia; OMIM #230400)은 상염색체 열성 유전의 갈락토오스 대사장애로, 9번 염색체에 위치하는 GALT 유전자(OMIM *606999)로부터 전사되는 galactose-1-phosphate uridylyltransferase (GALT; E.C.2.7.7.12)의 심각한 결손으로 인해 유발되는 질환이다. GALT의 결함은 galactose-1-phosphate의 체내 축적을 일으켜, 신생아 시기부터 구토, 수유 곤란, 황달, 복수, 경련 발작, 기면 상태 등의 증상을 유발하고, 장기적으로는 백내장, 성장지연, 지능저하를 초래한다. 반면 Duarte형 갈락토오스혈증은 적혈구에서의 GALT 효소 활성도가 감소되어 있어 혈중 galactose와 galactose-1-phosphate의 농도가 증가하지만 임상적으로는 거의 증상을 보이지 않는 아형이다. 최근 신생아 선별검사의 발달과 함께, 무증상의 양성 판정 환아들이 늘고 있으며, 이들 환아들이 Duarte형 갈락토오스혈증일 가능성이 제기되고 있다. 이에 저자들은 국내에서 그 동안 드물게 보고되었던 N314D와 -119_-116delGT CA/E363K이형접합체의 Duarte형 갈락토오스혈증 일란성 쌍둥이 1례를 보고하고자 한다.