• Genomics & Informatics
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• 제20권3호
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• 대한소아치과학회지
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• 제24권1호
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• pp.179-185
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• 1997

The prevalence of congenital teeth missing is about 2-10% of population and it is more common in permanent dentition than primary dentition. In the patients with congenital missing teeth symptoms such as conical tooth, prolonged retention of primary tooth, tooth attrition. and deficient alveolar bone growth can be accompanied. In this paper the results of clinical observation of the congenital teeth missing brothers and their familial history are presented.

• Journal of Chest Surgery
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• 제19권2호
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• pp.280-287
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• 1986

Between March 1978 and August 1985, 29 cases at various congenital heart diseases were reoperated because of remnant shunt of residual anomalies at Seoul National University Hospital. They were consisted of 10 cases of Tetralogy, 4 simple VSD, 6 complicated VSD. 3 partial ECD, and 5 other rare congenital anomalies. The interval between the initial and the second procedure ranged from 1 day to 122 months [mean; 26.9 months]. In 4 cases of them, the second procedure was done during initial hospitalization within 3 weeks post-operatively. The primary operation intended to be corrective surgery except four whose primary operation was palliative or exploratory one even though it was done with extracorporeal circulation. The indication for second operation was mainly residual shunt or valvular obstruction due to patch detachment or inadequate relief of stenotic lesion. Others were paravalvular leak, valvuloplasty failure, prosthetic valve failure, and inadequate primary diagnosis. Four patients were dead [14.3%]; three complicated VSD`s and one Tetralogy. There were 7 cases of nonfatal complication with subsequent improvement except one [diffuse cerebral dysfunction].

• Clinical and Experimental Pediatrics
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• 제53권1호
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• pp.14-20
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• 2010

Cytomegalovirus (CMV) is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID), which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS). Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at $72{^{\circ}C}$ for 5 seconds can eliminate CMV completely.

• Journal of Yeungnam Medical Science
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• 제35권2호
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• pp.244-247
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• 2018

Congenital intratympanic membrane cholesteatoma (ITMC) is a rare type of congenital cholesteatoma located within the tympanic membrane. This lesion tends to increase in size over time. The development of ITMC can cause several complications such as hearing impairment, dizziness, facial palsy, and intracranial complications, similar to any other cholesteatoma. The treatment of congenital cholesteatoma requires the removal of the lesion through surgery, because disease progression induces bony destruction of the nearby tissue. Most patients presenting with this cholesteatoma type are also treated with primary surgical removal. However, we recently experienced a case of an ITMC that showed a natural transition to an external auditory canal cholesteatoma.

• 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.

• 대한소아치과학회지
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• 제45권4호
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• pp.514-520
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• 2018

유치의 선천적 결손은 흔하지 않으며, 특히 유견치의 선천적 결손은 드물다. 일반적으로 선천적 결손에 따른 후속 영구치에 미치는 영향으로 후속 영구치 또한 선천적 결손 되거나, 발육 시기에 영향을 주는 경우가 보고되어졌다. 본 증례는 상악 유견치의 선천적 결손을 지닌 2명의 환아에게서 각각 4세, 6세경 영구 견치가 조기 맹출 된 증례가 있어 보고하였다. 이러한 조기 맹출이 일반적이지 않더라도, 발생 시에 환자는 공간과 관련된 문제가 발생할 수 있으며 좀 더 주의 깊은 구강위생 관리가 필요하다. 이에 본 증례를 통하여 유견치 선천적 결손 후 후속 영구치의 조기 맹출 가능성에 대하여 보고하는 바이며, 조기맹출 시 발생할 수 있는 문제점과 관련하여 임상가들은 주의 깊은 관찰이 필요하다.

• 대한소아치과학회지
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• 제30권2호
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• pp.210-216
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• 2003

이중치는 쌍생치와 융합을 포함한다. 선천적인 결손치는 치아가 하나이상 없는 상태를 의미한다. 이 연구의 목적은 익산시 유치원 어린이에서의 이중치와 선천적 결손치의 유병율을 조사하는 것이다. 조사 인원은 569명의 남아와 462명의 여아로 1,031명의 어린이를 대상으로 하였으며 연령은 17개월에서 84개월의 연령이내였다. 이중치는 다양한 진단학적 치료적 문제를 가진다. 쌍생치는 하나의 치배가 두개의 치관을 형성하는 것으로 정의되며 임상적으로 동일한 두 개의 치관이 나뉘어져 거울상(mirror image)으로 보이게 된다. 융합치는 두 개의 치배가 합쳐져서 형성된 것으로 물리적인 힘이나 압력이 두 개의 정상적으로 분리된 치배를 접촉시켜 발생하는 것으로 알려져 있다. 융합은 두개의 정상치아 사이에서 나타나거나 혹은 정상치아와 과잉치 사이에서 나타나는데 후자의 경우 쌍생치와 구별하기 힘들다. 1,031명중 23명(11명의 남아, 12명의 여아)이 이중치를 보이고 17명(8명 남아, 9명 여아)은 선천적 결손치를 보였다. 이중치의 유병율은 2.2%였다. 선천적 결손치의 유병율은 1.6%였다. 피검자중 1명은 이중치와 결손치를 가지고 있었다. 유치열기의 이중치와 선천적 결손치에서 모두 남녀간에 통계학적으로 유의한 차이가 없었다(p>0.05).

• 대한소아치과학회지
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• 제34권3호
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• pp.447-453
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• 2007

본 연구는 유치열에서 치아기형 발생빈도와 영구치열에 미치는 영향을 조사하여 치아기형의 조기진단의 필요성을 평가하기 위한 것이다. 2000년도에서 2005년까지 전남대학교병원에 내원한 환자 중 파노라마 방사선 사진을 촬영한 2세에서 7세 사이의 어린이를 조사하여 유치열에서 이중치와 선천적 결손치의 유병율을 조사하고 그러한 유치열의 이상과 영구치열과의 상호관계를 조사하였다. 134명의 남아와 120명의 여아로 총 254명의 파노라마 필름을 조사하였으며 이중 8명(5명의 남아, 3명의 여아)에서 유치열에서의 결손치가 발견되었고 4명(2명의 남아, 2명의 여아)에서 유치열에서의 이중치가 발견되었다. 유치열에서 이중치의 유병율은 1.6%였으며 선천적 결손치의 유병율은 3.1%였다. 피검자 중1명은 하악의 이중치와 상악의 결손치를 가지고 있었다. 유치열의 이상이 나타난 11명 중 7명에서 계승 영구치의 결손이 발견되었다. 본 연구에서 유치열의 치아기형이 나타난 경우 계승 영구치에서 치아결손이 빈발할 수 있다는 것을 보여주었다.

• Journal of Chest Surgery
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• 제28권6호
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• pp.637-639
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• 1995

Congenital esophageal anomaly with or without tracheoesophageal fistula was rare congenital disease.We experienced 6 cases of congenital esophageal atresia, with tracheoesophageal fistula [5 cases and one esophageal atresia without fistula, were treated in the Department of Thoracic and Cardiovascular Surgery, Kangnam Sacred Heart Hospital, Hallym university, from May, 1992 to July, 1994. The type of four cases were upper blind pouch and lower tracheo or broncho esophageal fistula and one case H-type fistula with no esophageal atresia, and the one case was esophageal atresia without fistula. We performed modified Haight`s method, one case was primary closure with feeding gastrostomy and stomach interposition. Three were died due to respiratory failure on 7 and 9th postoperative days.Three were recovered uneventfully.