• 제목/요약/키워드: Birth defects

검색결과 90건 처리시간 0.025초

The Prognosis of Gastroschisis and Omphalocele

  • Jwa, Eunkyoung;Kim, Seong Chul;Kim, Dae Yeon;Hwang, Ji-Hee;Namgoong, Jung-Man;Kim, In-Koo
    • Advances in pediatric surgery
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    • 제20권2호
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    • pp.38-42
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    • 2014
  • Purpose: Gastroschisis and omphalocele are major anterior abdominal wall defects. The purpose of this study was to analyze the clinical differences and mortalities of gastroschisis and omphalocele in Asan Medical Center. Methods: A retrospective review of the medical records was conducted of 103 cases of gastroschisis and omphalocele from September 1989 to February 2013 in Asan Medical Center in Korea. Results: There were 43 cases (41.7%) of gastroschisis and 60 cases (58.3%) of omphalocele. There was a female predominance in both gastroschisis (60.5%) and omphalocele (58.3%). The average gestational age at delivery was $36.7{\pm}0.4$ weeks for both groups. The mean birth weights were $2,381.9{\pm}80.6g$ for gastroschisis and $2,779.4{\pm}82.8g$ for omphalocele (p=0.001). Mean maternal ages in the gastroschisis and omphalocele groups were $27.5{\pm}0.7$ years and $30.5{\pm}0.7$ years, respectively (p=0.002). Associated malformations were documented in 13 infants (30.2%) with gastroschisis and 46 infants (76.7%) with omphalocele (p<0.001). All of gastroschisis patients except one underwent surgery including 31 primary repairs and 11 staged repairs. Fifty-two infants with omphalocele underwent surgery-primary repair in 41 infants and staged repair in 11 infants. Among 103 cases, 19 cases (18.4%) expired. Mortality rates of gastroschisis and omphalocele were 23.3% (10/43 cases) and 15.0% (9/60 cases), respectively (p=0.287). The main causes of death were abdominal compartment syndrome (6/10 cases) in gastroschisis, respiratory failure (4/9 cases) and discharge against medical advice (4/9 cases) in omphalocele. Conclusion: Gastroschisisis was associated with younger maternal age and lower birth weight than omphalocele. Associated malformations were more common in omphalocele. The mortality rates did not make a statistical significance. This might be the improvement of treatment of cardiac anomalies, because no patient died from cardiac dysfunction in our study. Furthermore, abdominal compartment syndrome might be the main cause of death in gastroschisis.

임신 중 교통사고 환자의 한방치료에 대한 일반인 인식조사 (A Survey on the General Public's Perception of Korean Medicine Treatment for Traffic Accident Patients during Pregnancy)

  • 황보경;정우진;남궁진;김수덕;박미소;구승혁;김성현;문현우;백혜경;정재중
    • 대한한방부인과학회지
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    • 제35권4호
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    • pp.19-36
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    • 2022
  • Objectives: This study was conducted to find out the general public's perception of Korean Medicine (KM) treatment for traffic accident (TA) patients during pregnancy. Methods: A self-developed questionnaire was distributed to outpatients and inpatients between the ages of 19 and 70 at KM hospitals located in Bucheon. The subjects were asked whether they thought KM treatment could be applied to TA patients during pregnancy. The perceptions of acupuncture, pharmacupuncture, herbal medicine, and Chuna treatment during pregnancy were also investigated. Results: 87.50% answered that KM treatment could be applied to TA patients during pregnancy. Most respondents thought that musculoskeletal symptoms of TA could be treated with KM (85.71%). 93.75%, 87.50%, 56.25%, and 52.08% of the respondents said they were willing to recommend acupuncture, pharmacupuncture, herbal medicine, and Chuna treatment to patients after TA during pregnancy. The respondents answered that acupuncture (95.83%), pharmacupuncture (91.67%), herbal medicine (62.50%), and Chuna (66.67%) is effective for pain controlling during pregnancy, and acupuncture (8.33%), pharmacupuncture (12.50%), herbal medicine (45.83%), and Chuna (39.58%) could be affect the risk of premature birth, miscarriage or birth defects. Conclusions: Acupuncture and pharmacupunture treatment are perceived positively, whereas herbal medicine and Chuna treatment are perceived negatively by the general public for the TA patients during pregnancy. In order to establish the correct awareness of KM treatment for TA patients during pregnancy, more clinical studies and case reports on the efficacy and safety of KM treatment during pregnancy are required.

비증후군성 부분 무치증 환자에서 PAX9 유전자 돌연변이 (A Novel PAX9 Mutation in a Family with Non-Syndromic Oligodontia)

  • 이예지;신터전;현홍근;김정욱;이상훈;김영재
    • 대한소아치과학회지
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    • 제43권3호
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    • pp.299-305
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    • 2016
  • 본 연구는 서울대학교 치과병원 소아치과에 내원한 부분 무치증 환자를 대상으로 질환의 원인이 될 수 있는 돌연변이를 규명하고, 그 역할에 대하여 고찰하고자 하였다. 다수의 영구치 결손을 주소로 서울대학교 치과 병원에 내원 한 7세 여아와 어머니를 대상으로 구강검진 및 파노라마 방사선 촬영을 진행하였다. 연구 동의서를 받고, 유전자 검사를 위한 채혈을 시행하였다. PAX9 유전자의 모든 exon에 대해 특이적인 primer를 이용하여 중합효소 연쇄반응을 시행하였으며, 해당 산물을 정제하고 염기서열분석을 진행하였다. 결과는 NCBI Gene Bank와 대조하여 해당 영역의 돌연변이를 조사하였다. 7세 환아는 총 11개의 영구치 결손이 관찰되었으며, 어머니는 총 19개의 영구치 결손이 관찰되었다. 치아 결손 외에 손톱, 모발, 피부, 땀샘과 연관 된 다른 결함은 관찰되지 않았다. 유전자 분석 결과, PAX9의 exon 2 영역에서 nonsense mutation(c.184G>T, $p.Glu62^*$)을 확인하였으며, 대상자 모두에서 이형접합 돌연변이로 관찰되었다. 해당 돌연변이의 결과로 exon 2 내에서 전사 종결이 일어나게 되며, 발현 된 단백질은 정상 단백질에 비하여 280개의 아미노산이 짧은 상태로 발현된다고 추측할 수 있다. 결손된 부분은 paired box domain 및 DNA binding site 등 해당 단백질의 기능에 있어서 필수적인 영역을 포함하고 있으므로, 부분 무치증을 유발했을 가능성이 높다. 또는 해당 돌연변이의 전사체가 nonsense-mediated decay system(NMD system)에 의하여 분해됨으로써 haploinsufficiency를 유발하여 부분 무치증의 원인으로 작용했을 것으로 사료된다.

하이알로매트릭스를 이용한, 두개골결손을 동반한 선천성피부무형성증의 치료: 1례 보고 (Treatment of Aplasia Cutis Congenita on Scalp using Hyalomatix$^{(R)}$: A Case Report)

  • 이석현;홍종원;노태석;김영석;나동균
    • Archives of Plastic Surgery
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    • 제37권4호
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    • pp.469-472
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    • 2010
  • Purpose: Aplasia Cutis Congenita (ACC) is a rare disease characterized by the focal defect of the skin at birth, frequently involving scalp, but it may affect any region of the body. There are no etiology known but some conditions such as intrauterine vascular ischemia, amniotic adherences and viral infections are associated. The ideal treatment for the ACC is not known. Superficial and relatively small sized defects (< $3{\times}5\;cm$) may heal spontaneously and large defects related with risks of infection and bleeding may require aggressive surgical treatment. Hyalomatrix$^{(R)}$ is a bilayer of an esterified hyaluronan scaffold beneath a silicone membrane. It has been used as a temporary dermal substitute to cover deep thickness skin defect and has physiological functions derive from the structural role in extracellular matrix and interaction with cell surface receptor. This material has been used for the wound bed pre-treatment for skin graft to follow and especially in uncooperative patient, like a newborn, this could be a efficient and aseptic way of promoting granulation without daily irritative wound care. For this reason, using Hyalomatrix$^{(R)}$ for the treatment of ACC was preferred in this paper. Methods: We report a case of a newborn with ACC of the vertex scalp and non-ossified partial skull defect. The large sized skin and skull defect ($6{\times}6\;cm$) was found with intact dura mater. No other complications such as bleeding or abnormal neurologic sign were accompanied. Escharectomy was performed and Hyalomatrix$^{(R)}$ was applied for the protection and the induction of acute wound healing for 3 months before the split-thickness skin graft. During the 3 months period, the dressing was renewed in aseptic technique for every 3 weeks. The skin graft was achieved on the healthy granulation bed. Results: The operative procedure was uneventful without necessity of blood transfusion. Postoperative physical examination revealed no additional abnormalities. Regular wound management was performed in out-patient clinic and the grafted skin was taken completely. No other problems developed during follow-up. Conclusion: Hyalomatrix$^{(R)}$ provides protective and favorable environment for wound healing. The combination of the use of Hyalomatrix$^{(R)}$ and the skin graft will be a good alternative for the ACC patients with relatively large defect on vertex.

저징(褚澄)과 그의 의학사상(醫學思想)에 관한 연구 (A Study on Chu Cheng and His Ideas in the Medicine)

  • 김진호
    • 대한한의학원전학회지
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    • 제26권3호
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    • pp.19-32
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    • 2013
  • Objective : Chu Cheng(褚澄) was known as the author of Zayaofang(雜藥方) and Chushiyishu(褚氏遺書). His mentions in the medicine have been sufficiently told in his posterity. However, there have been no studies on Chu Cheng and his work like Chushiyishu in Korea. Here, I seek to investigate Chu Cheng and his ideas in the medicine. Method : I investigate Chushiyishu, known as written by Chu Cheng and his scattered portions. Result & Conclusion : His nom de plume(字) is Yandao(彦道). It was supposed that he was born before the year of 420, the era of Dong Jin(東晉) and died in 483. He wrote Zayaofang and Chushiyishu. However, the former was lost. The latter consists of 10 pieces of medical theories. The contents carved on the stone plate was discovered for the first time before 934 at a place presumed as his grave. Then, it was stored as the inner and outer coffins in the tomb of Xiao Guang(蕭廣) in 935 and written on the paper by Buddhist monk Shi Yikan(釋義堪) in 1127. Then, Liu Jixian(劉繼先) carved on the wood for publication and finally, the work was released in 1201. But, it deeply looks that the book was written by other follower. Chu Cheng was a doctor excellent in the inspection and pulse method and his medical ideas prioritized Huo(火) in Mingmen(命門) and Spleen(脾). He expressed his opinions on the four phases of life, sexes and birth defects through Yangjing(陽精) and Yinxue(陰血). In addition, he explained the human pathology through Qixue(氣血). Unsmooth flow of Qi causes diseases by congestion. The entity circulating Yinxue is Yang and protested using urine to treat the hemoptysis(咳血) instead of medicine with cold features. It was frequently mentioned by his predecessors with the fact that Chu Cheng used different medications on housewives from widows and Buddhist nun monks. In addition, Chu Cheng proposed various opinions on cure, diagnosis, treatment, drug usage, pulse positions and hermaphrodites(半陰陽).

Genetic radiation risks: a neglected topic in the low dose debate

  • Schmitz-Feuerhake, Inge;Busby, Christopher;Pflugbeil, Sebastian
    • Environmental Analysis Health and Toxicology
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    • 제31권
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    • pp.1.1-1.13
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    • 2016
  • Objectives To investigate the accuracy and scientific validity of the current very low risk factor for hereditary diseases in humans following exposures to ionizing radiation adopted by the United Nations Scientific Committee on the Effects of Atomic Radiation and the International Commission on Radiological Protection. The value is based on experiments on mice due to reportedly absent effects in the Japanese atomic bomb (A-bomb) survivors. Methods To review the published evidence for heritable effects after ionising radiation exposures particularly, but not restricted to, populations exposed to contamination from the Chernobyl accident and from atmospheric nuclear test fallout. To make a compilation of findings about early deaths, congenital malformations, Down's syndrome, cancer and other genetic effects observed in humans after the exposure of the parents. To also examine more closely the evidence from the Japanese A-bomb epidemiology and discuss its scientific validity. Results Nearly all types of hereditary defects were found at doses as low as one to 10 mSv. We discuss the clash between the current risk model and these observations on the basis of biological mechanism and assumptions about linear relationships between dose and effect in neonatal and foetal epidemiology. The evidence supports a dose response relationship which is non-linear and is either biphasic or supralinear (hogs-back) and largely either saturates or falls above 10 mSv. Conclusions We conclude that the current risk model for heritable effects of radiation is unsafe. The dose response relationship is non-linear with the greatest effects at the lowest doses. Using Chernobyl data we derive an excess relative risk for all malformations of 1.0 per 10 mSv cumulative dose. The safety of the Japanese A-bomb epidemiology is argued to be both scientifically and philosophically questionable owing to errors in the choice of control groups, omission of internal exposure effects and assumptions about linear dose response.

Marginal folate inadequacy observed in a group of young children in Kwangju, Korea

  • Kim, Young-Nam;Lee, Ji-Young;Driskell, Judy A.
    • Nutrition Research and Practice
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    • 제1권2호
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    • pp.120-125
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    • 2007
  • Folate is important for multiple metabolic processes such as nucleic acid synthesis and interconversions, and cell division. Folate deficiency may be a risk factor for several pathologies, such as neural tube birth defects, dementia, and cardiovascular diseases. The objectives of this study were to estimate folate intakes and plasma concentrations of young children living in Kwangju, Korea. Three consecutive 24-h food recalls and fasting blood samples were obtained from 24 boys and 30 girls, aged 2-6 y, living in Kwangju, Korea. The daily folate intake ($mean{\pm}SD$) of the children was $146.7{\pm}73.6{\mu}g$ dietary folate equivalents. No differences in folate intakes were observed by gender ($p{\geq}0.05$). The mean folate intakes of the 2 and 3 y old groups were significantly lower (p<0.05) than those of 5 and 6 y old groups. Over half of subjects consumed $mean{\pm}SD$) of all subjects was $19.2{\pm}8.7nmol/L$, and there was no significant difference by age nor gender ($p{\geq}0.05$). No significant correlation was observed between folate intakes and plasma folate concentrations. One subjeci (1.9%) in this study had a plasma folate concentration <6.8 nmol/L, which is indicative of folate deficiency. Approximately 24% of subjects had plasma folate concentrations of 6.8-13.4 nmol/L, which is representative of marginal folate status. In conclusion, some young children may have less than adequate folate status in Korea.

Cytomegalovirus Infection among Pregnant Women in Beijing: Seroepidemiological Survey and Intrauterine Transmissions

  • Jin, Qing'e;Su, Jianrong;Wu, Shanna
    • Journal of Microbiology and Biotechnology
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    • 제27권5호
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    • pp.1005-1009
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    • 2017
  • Primary cytomegalovirus (CMV) infection during pregnancy can cause congenital defects. Available data for CMV infection during pregnancy in north China are inadequate. The aim of this study was to evaluate the epidemiology of maternal CMV infection and explore the incidence of congenital infection. In this prospective study, serum CMV IgG and IgM antibodies were measured in 2,887 pregnant women using ELISA, and the IgG avidity test was performed on all IgM-positive subjects. The seroprevalence of anti-CMV IgG was 94.70%, and of anti-CMV IgM was 1.28%. CMV IgG prevalence increased significantly with age (p < 0.01). Women living in downtown areas showed higher IgG prevalence than those residing in urban areas (p = 0.023). CMV-IgM seroprevalence was highest in autumn (p = 0.021). There was no difference in IgM seroprevalence by age, socioeconomic status, geographical area, or gravida. The rate of primary CMV infection was 0.45% (13/2,887) at the first trimester. The seroconversion rate during pregnancy was 0.76% (22/2,887). One woman underwent seroconversion during pregnancy and gave birth to an infant with asymptomatic CMV infection. Congenital CMV infection was diagnosed in five of the 14 infants from 14 mothers with active infection, for a vertical transmission rate of 35.71% (5/14). Three infants were asymptomatic, whereas two infants presented symptomatic infection with hearing deficits. Although CMV IgG prevalence is relatively high in north China, significant attention to primary CMV infection during pregnancy is still needed.

선천성 악골유합증 (Syngnathia: Review of literature and a case report)

  • 이종호;김용훈;서병무;최진영;정필훈;김명진
    • 대한구순구개열학회지
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    • 제4권1호
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    • pp.45-53
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    • 2001
  • 악골유합증은 두경부의 매우 드문 선천적 기형으로, 상악과 하악간의 골성 유합이 그 특징이다. 저자들은 좌측 상악, 하악 및 관골궁의 골성 유합을 보이는 1 예를 경험하였고, 골성 유합의 분리를 위한 수술을 시행하였으며, 이후 장기 예후 관찰기간중 개구제한의 점차적인 재발을 관찰하였기에 이에 보고하는 바이다.

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Molar-Incisor Malformation: 최근 확인된 치아 이상의 증례 보고 (Molar-Incisor Malformation: Three Cases of a Newly Identified Dental Anomaly)

  • 최수지;이제우;송지현
    • 대한소아치과학회지
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    • 제44권3호
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    • pp.370-377
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    • 2017
  • Molar-incisor malformation (MIM)은 최근에 알려진 치아 이상으로 제1대구치의 치근 형태 이상이 특징적이며, 제2유구치의 비정형적 치근 형태 및 중절치의 법랑질 결함을 동반하기도 한다. 본 연구는 MIM으로 진단한 3명의 환아에 대하여 보고하고, 이에 관한 문헌 고찰을 하고자 한다. 3명의 환아 모두 제1대구치의 치근 형태 이상을 보였으며, 그 정도는 다양했다. 2명의 환아는 출생 시 의학적 병력을 가지고 있었으며, 한 명의 환아는 일란성 쌍둥이였다. 그러나 쌍둥이 동생의 임상 및 방사선학적 검사 결과 특별한 이상이 없는 정상 치열이었다. 본 연구는 최근에 보고되고 있는 MIM 증례에 관한 기술 및 방사선학적 관찰로, 해당 환아의 임상적 관리 시 이환 치아의 방사선학적 특성 및 미세해부학적 구조 및 수반하는 특성에 관한 고려는 조기 진단 및 포괄적 치료계획 수립에 도움이 될 것으로 생각된다.