• Title/Summary/Keyword: 기형도

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A case of multicystic dysplastic kidney and cystic adenomatoid malformation of the lung identified as incidental findings (우연히 발견된 편측성 다낭성 신 이형성증과 폐의 선천성 낭성 선종양 기형이 합병된 증례)

  • Lee, Sun-Joo;Lee, Ji-Hun;Kim, Hyun-Hee;Kim, So-Young;Hahn, Seung-Hoon;Hwang, Ja-Young;Lee, Wonbae
    • Clinical and Experimental Pediatrics
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    • v.49 no.7
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    • pp.796-799
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    • 2006
  • Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was admitted with the impression of acute infectious gastroenteritis; multicystic dysplastic kidney with congenital cystic adenomatoid malformation of the lung was detected incidentally during evaluation.

Multicenter clinical study on birth weight and associated anomalies of single umbilical artery (단일 배꼽 동맥 환아의 출생체중과 동반기형에 관한 다기관 연구)

  • Bae, Su-Nam;Lim, Jae-Woo;Ko, Kyong-Og;Jin, Hyun-Seung;Kim, Min-Hee;Lee, Bo-Young;Kim, Chun-Soo;Kim, Eun-Ryoung;Park, Sang-Kee;Lee, Jung-Joo
    • Clinical and Experimental Pediatrics
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    • v.52 no.6
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    • pp.655-660
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    • 2009
  • Purpose : To compare birth weight between infants with a single umbilical artery (SUA) and normal infants, investigate the associated anomalies of infants with SUA and isolated SUA (no abnormality of external appearance on birth, except SUA), and determine the prognosis of infants with isolated SUA. Methods : Live-born infants with SUA (n=59) detected by physical examination from among 15,193 live births in seven university hospitals in Korea between January 1, 2004, to August 1, 2007, were reviewed retrospectively, with 236 normal infants serving as the control group. Results : A statistical difference was observed between the groups in birth weight and in vitro fertilization. The incidence of infants with SUA was 0.37%. Congenital malformations were observed in 21 infants with cardiovascular (n=15, 25.4%), gastrointestinal (n=2, 3.4%), genitourinary (n=9, 15.3%), neuromusculoskeletal (n=6, 10.2%), central nervous system (n=1, 1.7%), chromosomal (n=1, 1.7%), and other (n=3, 5.1%) abnormalities. There were 49 (83.1%) infants with isolated SUA in this study population; among them, the associated congenital malformations were cardiovascular (n=6, 12.2%) and genitourinary (n=6, 12.2%) abnormalities. Two infants with cyanotic heart disease were operated and four infants with acyanotic heart disease showed improvements without any treatment. Six infants with genitourinary abnormalities on renal ultrasound had mild hydronephrosis without further consequences. Conclusion : The incidence of structural abnormalities in the cardiovascular and genitourinary systems is high and the genitourinary anomalies associated with isolated SUA have relatively good prognosis.

Congenital Anomaly of Urinary Tract in Children (소아 선천성 요로계 기형에 관한 고찰)

  • Shin Weon Hye;Ko Cheol Woo;Koo Ja Hoon;Chung Sung Kwang
    • Childhood Kidney Diseases
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    • v.3 no.1
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    • pp.88-94
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    • 1999
  • Purpose : Malformation of urinary tract is among the most common of all congenital anomalies and can progress to irreversible renal damage before diagnosis due to difficulty of early diagnosis. Present study was undertaken to determine the clinical characteristics of urinary tract anomaly and to find out the most appropriate diagnostic and therapeutic measures for children with these anomalies. Methods : During the past 10 years from 1987 to 1998, review of medical records revealed 65 children with congenital anomaly of urinary tract and the following results were obtained. Results : The most common anomalies were ureteropelvic junction obstruction occuring in 26 cases ($36\%$), followed by ureteral duplication in 11 cases, renal agenesis in 10 cases and ureterovesical function obstruction in 7 cases. Complex anomaly of urinary tract was found in 8 cases and anomaly of other systems such as congenital heart disease was detected in 11 cases. The most frequent age group at the time of diagnosis was below 1 year of age constituting 39 cases ($60\%$) and male preponderance was noted as male to female ratio being 2.25:1. Presenting symptoms were urinary tract infection in 25 cases, followed by hematuria, abdominal mass, abdominal pain and voiding difficulty, etc, and in 11 cases, the anomaly was picked up by routine prenatal ultrasonography. Azotemia was noted in 9 cases and the underlying anomaly was obstructive uropathy in 4 out of these 9 cases. Surgical correction was undertaken in 38 cases (most frequently in cases of obstructive uropathy) and in 2 out off cases with obstructive uropathy in whom surgical correction was done, azotemia disappeared during follow up period of 1-5years. No new cases of deteriorating renal function appeared during follow-up period. Conclusion : In spite of high incidence of congenital malformation of urinary tract, early diagnosis is still hampered by nonspecific symptoms and signs. Therefore, in patients with symptoms such as urinary tract infection, abdominal pain and voiding problems, etc, it Is advisable to take various diagnostic tests promptly to pick up any urinary tract anomaly and to apply proper therapy in order to avoid progression to irreversible renal damage. In this regard, prenatal ultrasonography should be utilized more widely as a routine procedure to detect any urinary tract anomalies before birth.

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기형란은 왜 생기나

  • 대한양계협회
    • KOREAN POULTRY JOURNAL
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    • v.14 s.156
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    • pp.139-141
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    • 1982
  • 닭의 수란관내에서 계란이 형성 도중에 난각이 원인 모르게 깨지는 경우가 있다. 이러한 기형란은 닭의 안정과 점등시간의 단축으로 그 빈도를 줄일 수 있다.

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Clinical Results from Single-Fraction Stereotactic Radiosurgery (SRS) of Brain Arteriovenous Malformation: Single Center Experience (뇌동정맥기형에서 선형가속기를 이용한 방사선 수술 후의 임상적 결과)

  • Lim, Soo-Mee;Lee, Re-Na;Suh, Hyun-Suk
    • Progress in Medical Physics
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    • v.21 no.3
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    • pp.274-280
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    • 2010
  • The purpose of this study was to analyze the effect of single-fraction stereotactic radiosurgery (SRS) for the treatment of 15 cases of cerebral arteriovenous malformations (AVMs). Between 2002 and 2009, of the 25 patients who had SRS for the treatment of cerebral AVM, 15 patients (6 men, 9 women) taken a digital subtraction angiography (DSA) over 12 months after SRS were included. We retrospectively evaluated the size, location, hemorrhage of nidus, angiographic changes on follow-up on the MR angiography and DSA, and clinical complications during follow-up periods. At a median follow-up of 24 months (range 12-89), complete obliteration of nidus was observed in all patients (100%) while residual draining veins was observed in 3 patients (20%). There was no clinical complication during the follow-up period except seizure in 1 patient. The mean nidus volume was 4.7cc (0.5~11.7 cc, SD 3.7 cc). The locations of nidus were in cerebral hemisphere in 11 patients, cerebellum in 2 patients, basal ganglia in 1 patient, and pons in 1 patient respectively. 9 cases were hemorrhagic, and 6 cases were non-hemorrhagic AVMs. The SRS with LINAC is a safe and effective treatment for cerebral AVMs when the follow up period is over 4 years. However, it is recommended to continue to follow up until the draining vein on arterial phase of follow up DSA disappears completely.

A case of mosaic ring chromosome 13 syndrome (13번 환염색체의 모자이크 증후군)

  • Kim, Soo Young;Oh, Soo Min;Kim, Mi Jeong;Song, Eun Song;Kim, Young Ok;Choi, Young Youn;Woo, Young Jong;Hwang, Tai Ju
    • Clinical and Experimental Pediatrics
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    • v.52 no.2
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    • pp.242-246
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    • 2009
  • The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

The Mentum Deformity of C. plumosus Following Exposure to Endocrine Disruption Chemicals (내분비교란 물질에 노출된 C. plumosus (장수깔따구)의 하순기절 기형성)

  • Lee, Won-Choel;Kwak, Inn-Sil
    • Korean Journal of Ecology and Environment
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    • v.38 no.1 s.110
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    • pp.11-17
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    • 2005
  • Egg masses of C. plumosus were collected from Jungnang Stream in Seoul and reared in an incubator chamber. The larvae of C. plumosus were treated with potential endocrine disruption chemicals (EDCs) such as Diethylhexyl phthalate (DEHP), Bisphenol A (BPA) and Tebufenozide, and the effects of morphological abnormalities were observed. The deformities of the mentum following exposure to EDCs showed the smooth/round tooth, the loss of ${\ge}$1 tooth, reduced median lateral teeth (MLT) and light brown color. The incidence rates of the mentum deformity were associated with chemicals: BPA (73.7 ${\sim}$ 90.9%)>tebufenozide (57.6 ${\sim}$ 78.9%)>DEHP (46.2 ${\sim}$ 85.7%). The deformity type of the mentum showed MIX (MLT+LT, 32 ${\sim}$ 46%)>MLT (25 ${\sim}$ 34%)>LT (lateral teeth, 3 ${\sim}$ 7%). Also, the incidence of MIX type was in the order of BPA (46%)>DEHP (33%) >tebufenozide (32%), and that of MLT type showed DEHP (34%)>tebufenozide (31%)>BPA (25%). As the concentration of Tebufenozide increased, the incidence of light brown mentum was dose dependent. While the incidences of light brown mentum following exposure to BPA and DEHP were not associated with their concentrations.

Analysis of Questions and Answers Posted on the Internet Blogs about Prenatal Genetic Diagnosis and Screening (블로그를 통해 본 산전 기형아 검사와 양수검사에 대한 질문과 댓글 분석)

  • Jun, Myunghee;Shin, Gyeyoung;Choi, Kyung Sook
    • The Journal of the Korea Contents Association
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    • v.15 no.3
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    • pp.252-264
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    • 2015
  • The purpose of this study was to identify pregnant women's needs for information on prenatal genetic diagnosis and screening. This study is consisted of two phases. In the first phase in December 2011, six blogs featuring questions and answers on prenatal genetic diagnosis and screening were selected from four major search engines in Korea by using the keywords "prenatal genetic diagnosis," "prenatal genetic screening", and "amniocentesis." An analyzing framework was constructed on the basis of 389 posts on six blogs between November 2006 and October 2011. In the second phase, the contents of the "MomsHolicbaby" blog posted from November 2010 to October 2011 were reviewed. Then, pregnant women's questions on prenatal genetic diagnosis and screening (100 questions) and amniocentesis (200 questions with 1,665 answers) were analyzed using descriptive statistics. Among posters who had ever been recommended to undergo amniocentesis, 56.5% described feelings of anxiety, 25.5% did not know the purpose of the test, and 33.9% refused to undergo the test. Among 295 posters answering questions about amniocentesis, 61.4% disagreed with undergoing the test. The results show that there is a need for healthcare professionals to provide more educational and emotional support to pregnant women considering prenatal genetic diagnosis and screening. Providing online health information can be integrated into prenatal genetic education for pregnant women as well as nurses. In addition, prenatal women's preferences about undergoing amniocentesis should be reflected in the current legal discussion on criteria for termination of pregnancy.