• Clinical and Experimental Pediatrics
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• 제55권2호
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• pp.35-41
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• 2012

Passive exposure to tobacco smoke significantly contributes to morbidity and mortality in children. Children, in particular, seem to be the most susceptible population to the harmful effects of environmental tobacco smoke (ETS). Paternal smoking inside the home leads to significant maternal and fetal exposure to ETS and may subsequently affect fetal health. ETS has been associated with adverse effects on pediatric health, including preterm birth, intrauterine growth retardation, perinatal mortality, respiratory illness, neurobehavioral problems, and decreased performance in school. A valid estimation of the risks associated with tobacco exposure depends on accurate measurement. Nicotine and its major metabolite, cotinine, are commonly used as smoking biomarkers, and their levels can be determined in various biological specimens such as blood, saliva, and urine. Recently, hair analysis was found to be a convenient, noninvasive technique for detecting the presence of nicotine exposure. Because nicotine/cotinine accumulates in hair during hair growth, it is a unique measure of longterm, cumulative exposure to tobacco smoke. Although smoking ban policies result in considerable reductions in ETS exposure, children are still exposed significantly to tobacco smoke not only in their homes but also in schools, restaurants, child-care settings, cars, buses, and other public places. Therefore, more effective strategies and public policies to protect preschool children from ETS should be consolidated.

• 대한소아치과학회지
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• 제35권2호
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• pp.319-323
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• 2008

에드워드 증후군은 18번 세염색체(trisomy)성 질환으로 신체의 모든 기관에 다수의 영향을 주며 정신 지체, 발육 지연, 호흡 곤란, 선천성 심장 질환 등의 전신 질환과 손가락의 굴곡변형과 족부후방돌출(rocker-bottom feet)의 소견을 보인다. 산모가 에드워드 증후군 환아를 임신했을 경우 양수과다, 작은 태반, 단일 제대 동맥의 소견을 보인다. 에드워드 증후군을 가진 환아는 생존율이 매우 낮다. 절반이 자궁 내에서 사망하며, 출생아의 50%는 생존율이 2개월이고, $5{\sim}10%$는 생존율이 1년 정도이다. 에드워드 증후군을 가진 환아가 충치 치료를 주소로 내원하였다. 환아의 전신 질환과 심장 수술 병력, 저체중, 기도확보 유지가 어려운 점을 고려하여 전신마취 하에 치과 치료를 시행하였다. 저자는 에드워드 증후군 환아의 치과 치료 후 다소의 지견을 얻었기에 보고하는 바이다.

• 한국발생생물학회지:발생과생식
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• 제19권4호
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• pp.167-180
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• 2015

Arsenic is a toxic metalloid that exists ubiquitously in the environment, and affects global health problems due to its carcinogenicity. In most populations, the main source of arsenic exposure is the drinking water. In drinking water, chronic exposure to arsenic is associated with increased risks of various cancers including those of skin, lung, bladder, and liver, as well as numerous other non-cancer diseases including gastrointestinal and cardiovascular diseases, diabetes, and neurologic and cognitive problems. Recent emerging evidences suggest that arsenic exposure affects the reproductive and developmental toxicity. Prenatal exposure to inorganic arsenic causes adverse pregnancy outcomes and children's health problems. Some epidemiological studies have reported that arsenic exposure induces premature delivery, spontaneous abortion, and stillbirth. In animal studies, inorganic arsenic also causes fetal malformation, growth retardation, and fetal death. These toxic effects depend on dose, route and gestation periods of arsenic exposure. In males, inorganic arsenic causes reproductive dysfunctions including reductions of the testis weights, accessory sex organs weights, and epididymal sperm counts. In addition, inorganic arsenic exposure also induces alterations of spermatogenesis, reductions of testosterone and gonadotrophins, and disruptions of steroidogenesis. However, the reproductive and developmental problems following arsenic exposure are poorly understood, and the molecular mechanism of arsenic-induced reproductive toxicity remains unclear. Thus, we further investigated several possible mechanisms underlying arsenic-induced reproductive toxicity.

• Toxicological Research
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• 제13권4호
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• pp.331-338
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• 1997

A teratogenic study on Original Woo-Whang-Chung-Sim-Won was carried out in SpragueDawley rats. Original Woo-Whang-Chung-Sim-Won suspended in distilled water was administered to pregnant dams by oral gavage during organogenesis period (from 7th to 17th day of gestation) at daily doses of 1/9, 1/3 and I pill/kg. About two-thirds of dams were sacrificed at 20th day of gestation to scrutinize the pregnant performances and fetal development, and the remaining dams were allowed to deliver. The growth, reflex, behaviour and reproductive function of F1 offsprings were examined. There was no treatment-related difference in body weight, food consumption and necropy findings of dams. No gross, skeletal and visceral abnormalities was observed in F1 fetuses from dams treated with Original Woo-Whang-Chung-Sim-Won. F1 offsprings did not show any treatment-related difference in growth, reflex, behaviour and reproductive peuformance. At caesarean section of F1 dams, no growth retardation and gross abnormality was observed in F2 fetuses. In conclusion, Original Woo-Whang-Chung-Sim-Won did not show any potential teratogenic activity in rats.

• Clinical and Experimental Reproductive Medicine
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• 제26권2호
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• pp.265-269
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• 1999

Thrombocytopenic patients without detectable bound antiplatelet antibody should be diagnosed with idiopathic thrombocytopenic purpura (ITP) if no other cause of their decreased platelet count could be found. More recently the term "autoimmune thrombocytopenic purpura (ATP) has supplanted ITP since the disease is related to the production of autoantibodies against one's own platelets. This entity should not be confused with isoimmune thrombocytopenic purpura (also called alloimmune thrombocytopenic purpura). In this cases maternal antiplatelet antibodies directed against the PLA 1 antigen on the fetal platelets causes severe fetal and neonatal thrombocytopenia in a situation analogous to Rheusus disease. Antibodies to the negatively charged phospholipids, lupus anticoagulant, and anticardiolipin have been linked to adverse pregnancy events. Pregnant women possessing these antibodies have an increased risk of spontaneous abortion, stillbirths, intrauterine fetal growth retardation, preterm birth, and arterial and venous thrombosis. Antiphospholipid antibodies decrease or may even disappear between pregnancies only to recur with increased activity in a subsequent pregnancy and lead to loss. We have experienced a case of antiphospholipid syndrome associated with autoimmune thrombocytopenic purpura in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• Anatomy and Cell Biology
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• 제57권3호
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• pp.400-407
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• 2024

Intrauterine alcohol exposure delays bone maturation and intensifies osteoporosis and fracture risk. As most studies emphasize the neurological aspects of intrauterine alcohol exposure, there is a lack of research on the implications pertaining to osseous tissue. Previous studies investigated these effects in fetuses, with limited studies on postnatal life. Postnatal studies are crucial since peak bone growth occurs during adolescence. This study aimed at assessing the effects of prenatal alcohol exposure on the humerus proximal and distal growth plate chondrocytes in 3-week-old rats. Sprague Dawley rats (n=9) were assigned to either the ethanol group (n=3), saline (n=3), and untreated (n=3) group and time-mated. Once pregnant, as confirmed by the presence of a copulation plug, the former 2 groups were treated with 0.015 ml/g of 25.2% ethanol and 0.9% saline. The untreated group received no treatment. The left humeri belonging to 6 pups per group were used. Serial sections were cut with a microtome at 5 ㎛ thickness. These sections were stained with haematoxylin and eosin for assessment of normal morphology or immunolabeled with anti-Ki-67 and transforming growth factor β-1 (TGFβ-1) antibody. Prenatal alcohol exposure adversely effected the growth plate sizes and the number of cells in the proliferative zone. Fewer TGFβ-1 immunopositive and proliferative chondrocytes were found using the anti-Ki-67 antibody. This may explain the growth retardation in offspring exposed to gestational alcohol, showing that gestational alcohol exposure inhibits cell proliferation, aiding the diminished stature.

• Clinical and Experimental Pediatrics
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• 제61권4호
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• pp.114-120
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• 2018

Purpose: Routine screening for toxoplasmosis, rubella, cytomegalovirus (CMV), and herpes simplex virus (TORCH) in intrauterine growth restriction (IUGR) and small for gestational age (SGA) neonates has become a common practice. However, the incidence of TORCH varies across countries, and the cost of TORCH testing may be disadvantageous compared to disease-specific screening. To evaluate the efficacy of TORCH screening, the medical charts of IUGR or SGA neonates born in a single institution in Bucheon, Korea from 2011 to 2015 were reviewed. Methods: The clinical data of the 126 IUGR or SGA neonates were gathered, including gestational age, Apgar scores, neonatal sonographic findings, chromosome study, morbidities, developmental follow-up, and growth catch-up. Maternal factors including underlying maternal disease and fetal sonography were collected, and placental findings were recorded when available. TORCH screening was done using serum IgM, CMV urine culture, quantification of CMV DNA with real-time polymerase chain reaction, and rapid plasma reagin qualitative test for syphilis. Tests were repeated only for those with positive results. Results: Of the 119 TORCH screenings, only one was positive for toxoplasmosis IgM. This result was deemed false positive due to negative IgM on repeated testing and the absence of clinical symptoms. Conclusion: Considering the incidence and risk of TORCH in Korea, the financial burden of TORCH screening, and the single positive TORCH finding in our study, we suggest disease-specific screening based on maternal history and the clinical symptoms of the neonate. Regarding CMV, which may present asymptomatically, universal screening may be appropriate upon cost-benefit analysis.

• Journal of Genetic Medicine
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• 제2권2호
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Journal of Genetic Medicine
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• 제16권1호
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• pp.23-26
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• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.