• Annals of Clinical Neurophysiology
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• 제20권2호
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• pp.85-88
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• 2018

Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mixtures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic seizures. It is characterized by optic atrophy, pituitary dysfunction and midline structure abnormalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations.

• Journal of Chest Surgery
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• 제20권2호
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• pp.300-308
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• 1987

Clinical and pathologic data were reviewed in 20 patients who had have surgery for isolated aortic valvular heart disease between April 1978 and April, 1987. Hospital mortality was 10%, with no additional late mortality during a mean follow-up period of 24.1 months. Prosthetic valve failure developed in 3 patients and two had reoperation. Niety four percent of the survivors who were in NYHA Funtional class III or IV before operation are now in class I or II. Ninety percent of all patients are still alive at a maximum follow up of 9 years. The clinical histories, gross and histologic examination of valves estabilished the causes for isolated aortic valve disease: 3 rheumatic, 2 congenital bicuspid, 2 hypertention, 2 aortitis and each one case of floppy valve, medial cystic necrosis of aorta, bacterial endocarditis. But etiology was unknown in 8 cases. Sixteen patietns had myxoid degeneration, defined as significant disruption of the valve fibrosa and its replacement by acid mucosaccharides and cystic changes. Myxoid degeneration was also the primary pathologic abnormality in the patients with 2 hypertention, 2 rheumatic, 1 aortitis, 1 bacterial endocarditis, 1 floppy valve, 1 congenital bicuspid. The patients with myxoid degeneration of uncertain origin were 8. Histologic finding of all of them revealed nonspecific patients with myxoid degeneration of uncertain orgin were 8. Histologic finding of all of them revealed nonspecific chronic valvulitis with myxoid degeneration. This finding may indicate that the etiology w uld be infectious.

• 대한한방내과학회지
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• 제20권1호
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• pp.33-47
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• 1999

Through a literal study upon the cause of epilepsy between east and west medicine, next conclusion have been abtained. 1. The cause epilepsy in the east medicine, congenital embryo disease is due to insufficiency of heart(心虛) or deficiency of heart energy(心氣虛), secondary cause is wind -evil(風), frightness(驚), phlegm(痰), fire(火) 2. The cause epilepsy in the west medicine is divided congenital disease and secondary cause, one is excessive discharge of electricity of the brain have on a central nerve, a digestive organ, a respiratory organ, hamatogenous functions, the other is hereditary it and pathological it. 3. The epilepsy is concerned about the abnormality in five viscera, liver, spleen, heart. 4. In comparison east and west medicine of epilepsy is native factor, or innate primary cause is added to outer cause of wind-evil(風), cold-evil(寒), summer-heat(署), wetness(濕), and inner cause of frightness-terror(驚-恐), seven modes of emotions(七情) and the epilepsy is occurred phlegm(痰), fire(火). It similar that the epilepsy is occurred to structural and functional obstacle in western hereditary and primary cause.

• Clinics in Shoulder and Elbow
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• 제10권1호
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• pp.146-149
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• 2007

선천성 상위 견갑골은 주로 편측성으로 발생하는 선천성 질환으로 견갑골이 정상적인 위치보다 위에 위치하고 하각은 내측으로 상각은 외측으로 회전되는 변형이 발생한다. 저자들은 3-7세인 수술 적기가 이미 지난 상태였으며 수술적 치료를 시행한 1예를 문헌 고찰과 함께 보고하고자 한다. 환자는 7세 남자로 좌측 견갑-흉곽 운동의 제한을 주소로 내원하였으며 견갑 척추 골 유합과 견갑주위 근육의 발육부전도 동반되어있었고 수술적 교정 후 운동범위 증가와 미용의 개선이 있었다.

• 대한두개안면성형외과학회지
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• 제16권2호
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• pp.63-66
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• 2015

Background: Preauricular sinuses represent a common congenital abnormality in children. Classically, a preauricular sinus manifests as a small opening, usually near the anterior limb of ascending helix. The difficulty in the surgical treatment of preauricular sinus is the high recurrence rate. The aim of this article is to review the outcomes of preauricular sinus and to introduce our surgical technique and its prognosis. Methods: A single-institutional retrospective review was performed for all patients who had undergone excision of congenital periauricular sinus between October 2007 and April 2014. Medical records were reviewed for demographic information, wound complication, and recurrence rate. The sinus tract was visualized with the aid of preoperative dye instillation and intraoperative probe insertion. The skin next to the sinus opening was incised elliptically, and the tract itself was dissected medially to the end of the sinus tract and posteriorly to the cartilage of the ascending helix. Results: The review identified 44 patients for a total of 57 preauricular sinus tracts. The mean age at time of operation was 16.3 years with a range from 9 months to 65 years. Unilateral preauricular sinus tract was present in 31 patients (11 right and 20 left preauricular tract), and 13 patients had bilateral sinus tract. None of the patients had experienced wound issues postoperative, and there were no recurrent sinus tract formation or infection. Conclusion: Using a combination of dye instillation, probe insertion, and modified dissection, we were able to achieve a recurrence free series of preauricular sinus tract excision among a heterogenous group of patients. A large patient series is necessary to replicate the results of this study.

• Clinical and Experimental Pediatrics
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• 제46권8호
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• pp.831-835
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• 2003

저자들은 특징적인 안면 기형과 발열이 있는 semilobar type의 holoprosencephaly 환아에서 국내에서는 보고된 바 없는 염색체 검사상 21번 염색체 단체성이 동반된 holoprosencephaly 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.52-56
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• 2013

Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.

• Journal of Chest Surgery
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• 제53권2호
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• pp.89-91
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• 2020

Bronchopulmonary sequestration (BPS) is a rare congenital abnormality of the lower airway, generally characterized by blood supply received from the systemic circulation. We present a rare case of a 19-year-old man with incidentally detected BPS supplied by a branch of a pulmonary artery, rather than a systemic artery. Computed tomography showed a sequestered segment supplied by a branch of the left pulmonary artery and containing an ectopic bronchus. As chest computed tomography revealed necrosis in the sequestered tissue, infection was presumed, and the tissue was surgically removed. This may represent a very unusual occurrence, as such cases have yet to be reported in the literature.

• 한국동물위생학회지
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• 제29권4호
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• pp.503-506
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• 2006

Cyclopia is a congenital ocular abnormality in which two orbits are fused together due to an arrest in the normal process of embryonic tissue development. Reported here is a case of cyclopia in a calf observed from the uterus of cow slaughtered in an abattoir in Korea on March 24, 2004. The calf possessed a spherical-shaped head and only one centrally placed eye. The one eyeball showed complete eyelashes on the defective eyelids. The nasal region and the anterior nares were absent along with a dorsally curved mandible extended beyond the defective maxillae.

• 한국임상수의학회지
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• 제36권6호
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• pp.336-339
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• 2019

A castrated, 6-year-old, male Turkish Angora cat with a history of respiratory distress was referred to the hospital. Physical examination revealed a cardiac murmur, and thoracic radiographic findings revealed pleural effusion and cardiomegaly. Echocardiography showed abnormality of the tricuspid and mitral valve, and color-flow Doppler imaging revealed regurgitation between both atrium and ventricle. Based on the echocardiographic examination, tricuspid valve dysplasia concurrent with mitral valve dysplasia was diagnosed. However, the patient died a week after treatment. In necropsy, bilateral atrioventricular valve dysplasia and left ventricular hypertrophy were confirmed. This is the first report to describe a middle age Turkish angora cat having bilateral atrioventricular valve dysplasia which has high mortality and only been reported rarely in cats. This case report also describes its clinical signs, diagnostic imaging findings, treatment and discussions how the patient could live long.