• Title/Summary/Keyword: birth defects

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

  • Hwang, Bo-Kyung;Jung, Woo-Jin;Namgoong, Jin;Kim, Soo-Duk;Park, Mi-So;Ku, Seung-Hyeok;Kim, Sung-Hyun;Moon, Hyun-Woo;Baek, Hye-Kyung;Jung, Jae-Joong
    • The Journal of Korean Obstetrics and Gynecology
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    • v.35 no.4
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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.

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

  • Lee, Ye ji;Shin, Teo Jeon;Hyun, Hong-Keun;Kim, Jung-Wook;Lee, Sang-Hoon;Kim, Young-Jae
    • Journal of the korean academy of Pediatric Dentistry
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    • v.43 no.3
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    • pp.299-305
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    • 2016
  • The aim of this study was to identify the causative genetic mutation in a family with non-syndromic oligodontia. The 7-year-old female proband and her mother underwent oral examination, panoramic radiographs were obtained and blood samples were collected. All exons of the PAX9 gene were amplified by polymerase chain reaction and sequenced. The sequencing results were compared with the standard human gene sequence. The proband lacked 11 permanent teeth, and her mother lacked 19 permanent teeth. No other birth defects were observed. As a result of gene analysis, there was a novel heterozygous nonsense mutation (c.184G>T, $p.Glu62^*$) in exon 2 in both affected subjects. It is suspected that the nonsense mutation leads premature termination of translation, yields a truncated protein 280 amino acids shorter than the wild-type protein. These defects include parts of the paired box domain, a DNA-binding site that plays an essential role in protein function. Otherwise, more likely the mutant transcript would be degraded by nonsense-mediated decay system, resulting haploinsufficiency to cause oligodontia in this family.

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

  • Rhee, Suk-Hyun;Hong, Jong-Won;Roh, Tai-Suk;Kim, Young-Seok;Rah, Dong-Kyun
    • Archives of Plastic Surgery
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    • v.37 no.4
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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.

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

  • Kim, Jin-Ho
    • Journal of Korean Medical classics
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    • v.26 no.3
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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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    • v.31
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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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    • v.1 no.2
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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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    • v.27 no.5
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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.

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

  • Lee Jong-Ho;Kim Yong-Hun;Seo Byoung-Moo;Choi Jin-Young;Choung Pill-Hoon;Kim Myung-Jin
    • Korean Journal of Cleft Lip And Palate
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    • v.4 no.1
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    • pp.45-53
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    • 2001
  • Congenital craniofacial disorders represent approximately 20% of all birth defects, One of these disorders is syngnathia, Congenital fusion of the maxilla and mandible is rare and can present in a wide range of severity from single mucosal band(synechiae) to complete bony fusion(syngnathia), Syngnathia, congenital bony fusion of the mandible and maxilla, is even less common than synechiae, with only 25 cases reported in the literature, Most of them have presented as an incomplete, unilateral fusion, We report a case of unilateral bony fusion of the maxilla, mandible, and zygomatic arch, Details of operative management and follow-up data are presented with review of literature.

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

  • Choi, Suji;Lee, Jewoo;Song, Jihyun
    • Journal of the korean academy of Pediatric Dentistry
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    • v.44 no.3
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    • pp.370-377
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    • 2017
  • Molar-incisor malformation (MIM) is a recently described dental anomaly characterized by root malformation in permanent first molars accompanied sometimes by abnormal root forms in primary second molars or enamel defects in maxillary central incisors. This report presents three cases of MIM along with a review of previous studies. Three patients exhibited abnormal root forms in the permanent first molars, with varying degrees of deformation. Two of the patients experienced medical events at birth. One of the patients was a monozygotic twin, whose twin sister exhibited normal dentition without any significant abnormalities. The present report also reviews recently reported cases of MIM in literature. In the management of MIM-associated clinical issues, consideration of microscopic features and accompanying characteristics might facilitate early diagnosis and comprehensive treatment planning.

A Case of Cardiofaciocutaneous Syndrome caused by BRAF gene mutation (BRAF 유전자의 돌연변이로 진단된 Cardiofaciocutaneous 증후군 1례)

  • Lee, Beom-Hee;Kim, Jae-Min;Lee, Jin-Joo;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.6 no.1
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    • pp.87-90
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    • 2009
  • Cardiofaciocutaneous (CFC) syndrome is characterized by dysmorphic features, cardiac anomalies, and cutaneous abnormalities. CFC syndrome belongs to the class of Noonan-related diseases. CFC syndrome can be clinically differentiated from other Noonan-related diseases by the distinct craniofacial features of sparse hair, a hypoplastic supraorbital ridge, exophthalmos and nystagmus, and skin manifestations such as ichthyosis and hyperkeratosis. However, phenotypes can overlap among Noonan-related syndromes, including CFC syndrome. Recently, several genes in the RAS-MAPK pathway have been identified as disease-causing genes for Noonan-related diseases. Here, we report on a Korean girl diagnosed with CFC syndrome caused by a V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutation, and we discuss the phenotype-genotype heterogeneities in Noonan syndrome and Noonan-related diseases.

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