• 대한두개안면성형외과학회지
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• 제20권3호
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• pp.181-185
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• 2019

Intraosseous hemangioma is a rare, slow-growing, benign tumor of blood vessels. Primary hemangioma of the skull is a benign lesion that may appear as a palpable mass or accidentally detected during image evaluation. Simple radiography is the most commonly used technique to localize a lesion and computed tomography (CT) may help determine the effect of a lesion. We report a case of multifocal intraosseous calvarial hemangioma developed in the subgaleal plane of an elderly male patient. Ultrasonography examination revealed hyperechoic striated septae parallel to the skin and discontinuity of the focal cortex, however, the underlying bone cortex appeared relatively intact. No significant flow is observed on Doppler ultrasonography. Based on these evaluations, the mass was interpreted by a radiologist as a subgaleal lipoma. This case highlights the importance of additional CT examination in a patient presenting with a scalloping sign of the underlying calvarium. Clinicians also should be aware of the possibility of intraosseous calvarial hemangiomas in lesion. Furthermore, the proper choice of congenital vascular malformation term is still quite confusing with misconception present in the literature.

• Archives of Plastic Surgery
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• 제50권2호
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• pp.177-181
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• 2023

Digital extensor hypoplasia (DEH) is a rare malformation that presents with loss of active finger extension at the metacarpophalangeal (MCP) joints. Descriptions of optimal treatment and outcomes in this population are sparse. We describe successful operative treatment of a child with DEH involving the extensor digitorum communis, extensor digiti minimi, and the extensor indicis proprius tendons. The 5-year-old male patient was referred for severe limitation on bilateral finger extension since birth. He had been previously diagnosed with arthrogryposis and managed conservatively. Due to lack of improvement, magnetic resonance imaging was done evidencing hypoplasia/aplasia of the extensor tendons. The patient underwent successful tendon transfers using extensor carpi radialis longus to the common extensor tendons, and one hand required an additional tenolysis procedure. 2 years postoperatively, his MCP position and finger extension are markedly improved, and he is able to grip objects without limitation or difficulty. The patient returned to full activity without restriction.

• 한국임상수의학회지
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• 제41권1호
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• pp.43-48
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• 2024

A two-year-old, intact female Golden Retriever had previously been diagnosed with a portosystemic shunt (PSS) during an ultrasonographic examination at a local animal hospital. The serum biochemistry revealed elevated liver enzymes and bile acid levels. The abdominal radiographic examination revealed mild serosal detail loss and microhepatica, while abdominal ultrasonography revealed mild ascites and high-velocity flow to the caudal vena cava (CVC) suspected as a PSS. The gallbladder was not observed within the hepatic parenchyma during ultrasonography. Computed tomography (CT) revealed an absent gallbladder and dilation of the common bile duct (CBD). Dilations of the gastroduodenal, splenic, colic and renal veins were also observed. A dilated left phrenico-abdominal vein that entered the CVC was previously misinterpreted as a PSS on the ultrasound examination. Based on the imaging examinations, the dog was diagnosed with congenital gallbladder agenesis associated CBD dilation.

• 대한한방내과학회지
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• 제45권1호
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• pp.100-110
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• 2024

This case report demonstrates the effect of modified Bangibokryeong-tang (Fangji Fuling Decoction), a traditional herbal prescription in treating dyspnea and palpitations, symptoms that often lead to anxiety and reduced quality of life of cardiac patients. A female patient in her late 70s with congenital valve malformation and atrial fibrillation presented with dyspnea and palpitations, each rated at a severity of 8 on a numeric rating scale (NRS). After voluntarily discontinuing Western medication, she received modified BGBRT for 25 days, leading to significant symptom relief and NRS improvement to 0-2. The patient reported maintaining an improved condition and showed a significant increase in vitality. This improvement was sustained for 7 months, but the symptoms recurred; thus, modified BGBRT was restarted. Modified BGBRT showed substantial effects on persistent cardiac-origin dyspnea and palpitations. Thus, this TKM has the potential to manage symptoms and enhance the quality of life of cardiac patients.

• 대한영상의학회지
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• 제81권5호
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• pp.1246-1249
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• 2020

튜불린병증, 즉 튜불린 유전자의 변이는 복합 뇌피질 발달 기형의 원인으로 알려져 있다. 그중에서 TUBB3 유전자가 기형의 원인인 사례는 매우 드물어 이를 보고하고자 한다. 21개월 남아가 발달지연을 주소로 내원하였다. 환아는 혼자 걷지 못하였고 구사 가능한 단어가 5개 이내였다. 신체검사상 우측 내사시와 양하지 근력저하가 관찰되었다. 뇌 자기공명영상에서 뇌간의 이형성, 기저핵의 이형성 및 과형성 소견이 보였고 우측 시상의 크기가 좌측보다 작았으며 붕괴된 소뇌이랑의 소견이 보였다. DNA 염기서열 분석 결과 TUBB3 유전자의 과오돌연변이가 확인되었다.

• International Journal of Stem Cells
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• 제16권4호
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• pp.385-393
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• 2023

In vertebrates, the entire central nervous system is derived from the neural tube, which is formed through a conserved early developmental morphogenetic process called neurulation. Although the perturbations in neurulation caused by genetic or environmental factors lead to neural tube defects (NTDs), the most common congenital malformation and the precise molecular pathological cascades mediating NTDs are not well understood. Recently, we have developed human spinal cord organoids (hSCOs) that recapitulate some aspects of human neurulation and observed that valproic acid (VPA) could cause neurulation defects in an organoid model. In this study, we identified and verified the significant changes in cell-cell junctional genes/proteins in VPA-treated organoids using transcriptomic and immunostaining analysis. Furthermore, VPA-treated mouse embryos exhibited impaired gene expression and NTD phenotypes, similar to those observed in the hSCO model. Collectively, our data demonstrate that hSCOs provide a valuable biological resource for dissecting the molecular pathways underlying the currently unknown human neurulation process using destructive biological analysis tools.

• Journal of Chest Surgery
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• 제41권3호
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• pp.335-342
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• 2008

배경: 선천성 낭성 페질환은 드문 질환군으로 발생학적 특징 및 임상적 특징이 유사하나 때로는 그 양상이 매우 다양하게 나타나기에 종종 감별진단이 어려운 경우가 많고 대부분의 경우 외과적인 처치를 요한다. 대상 및 방법: 1993년부터 2006년까지 인제대학교 의과대학 부산백병원 흉부외과 교실에서 선천성 낭성 폐질환로 수술 받은 38명의 환자를 대상으로 하였으며, 병상 기록을 통하여 임상양상, 수술 방법, 병리학적 소견, 술 후 이환율 및 사망률 등을 후향적 조사하였다. 결과: 남녀 비는 2:2:16였고, 생후 1개월부터 51세까지로 평균 20.8세였다. 주 증상은 감염에 의한 발열, 기침, 객담이 19예, 호흡곤란이 7예, 가슴불편감이 8예, 객혈이 4예 등이었고, 증상이 없었던 경우가 8예였다. 전례에서 진단을 위한 컴퓨터 단층촬영을 시행하여 수술을 계획하였으며, 외과적 절제를 시행하였다. 28예의 환자에서 폐엽 절제술을 시행하였으며, 8예에서 단순 병변절제술을, 2예에서 폐구역 혹은 페쐐기 절제술을 시행하였다. 폐격리증은 10예, 선천성 낭종 유선종 기형이 15예, 기관지성 낭종이 11예였으며, 선천성 엽기종이 2예였다. 전례에서 병리학적 검사로 확진하였다. 합병증으로는 상처부위 감염 6예, 유미흉 2예, 척골신경병증 1예가 발생하였으나, 모두 특별한 문제없이 치유되었다. 결론: 본 저자는 선천성 낭성 폐질환을 진단 즉시에 수술을 시행하여 좋은 결과를 얻었기에 문헌고찰과 함께 보고하는 바이다.

• 대한두개안면성형외과학회지
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• 제10권2호
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• pp.109-113
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• 2009

Purpose: Materials for ear reconstruction are autogeneous cartilage and artificial implants. Despite their potential for donor site complications, autogeneous cartilage frameworks remain the accepted standard for external ear reconstruction. The purposes of this study were to investigate our ear reconstruction cases for 12 years. Methods: During twelve years from January 1996 to December 2008, 70 patients visited our hospital for ear reconstruction of microtia. Among them, 65 cases used autogenous cartilage frameworks, 3 cases used tissue expander and 2 cases used artificial implants. We investigated sex & age, common site, combined malformation, operation methods & their complications, donor site & their complications, anterior chest wall deformity and aesthetic evaluation. Results: Males were affected more often than females. Male to female ratio was 1.8 : 1. The common site of microtia was right ear (72%). And hemifacial microsomia was the most common associated congenital malformation. Surgical techniques included Tanzer-Ruecker method, Tissue-expander and Artificial framework ($Medpore^{(R)}$). Incidence of complication was higher with Tissue-expander & artificial framework than with Tanzer-Ruecker method. But There are few reports of using Tissue-expander & artificial framework and there was no acceptable statistical difference. And costal cartilage was harvested in ipsilateral side and anterior chest wall deformity reported only 2 cases under 10 year-old patients. Other minor complications reported such as, wound disruption and chest wall scar, but without any serious complications. Aesthetic result was evaluated by surgeons and patients for postoperative satisfaction and clinical evaluation. Conclusion: In ear reconstruction of microtia patient, delicate surgical strategy is important for natural shape and maintenance of postoperative contour. However, many methods were introduced for reconstrucion of microtia, the authors reconstructed an auricle in Tanzer-Ruecker method, Tissue-expander and Artificial famework ($Medpore^{(R)}$) for 70 patients. In our study, we generally chose Tanzer-Ruecker method and this treatment modality was satisfactory for patients and the postoperative result was acceptable for surgeons.

• Neonatal Medicine
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• 제18권2호
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• pp.337-344
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• 2011

목적: 신생아 시기에 수술적 치료를 한 위장관계 질환과 저체중 출생아에서 발생 빈도가 높은 위장관계 질환에 대한 이해를 높이고자 한다. 방법: 2008년 1월부터 2010년 12월까지 부산대학교병원과 부산대학교 어린이병원 신생아실에 입원한 환아 중 위장관계 질환으로 진단되고 외과적 치료를 받은 125명과 괴사성 장염과 서혜부 탈장으로 진단받은 환아 40명을 대상으로 원인 질환 및 빈도, 출생력, 성별, 동반 기형과 혈청학적 결과를 살펴보았다. 결과: 괴사성 장염과 서혜부 탈장을 제외한 총 125명 환아 중에서 항문 직장 기형이 가장 흔하였고, 남성이 우세하였다. 24명(19.2%)에서 타기형이 동반되었고 수신증, 선천성 심장 기형이 많았으며, 항문 직장 기형에서는 43.9%에서 동반 기형이 있었다. 출생체중을 보면 괴사성 장염의 경우 76.0%가 1,500 g 미만으로 대부분을 차지하였다. 술 후 완전 장관 영양까지의 기간은 괴사성 장염이 평균 30.8일로 가장 길었다. 술 후 합병증은 담즙정체증, 패혈증과 유착 등이 있었다. 괴사성 장염을 제외한 위장관계 질환으로 수술적 치료를 받았던 환자들은 1.6%의 사망률을 보였으며 수술적 치료를 받은 괴사성 장염의 사망률은 18.8%였다. 괴사성 장염의 수술군에서 보존적 치료군보다 직접 빌리루빈이 의미있게 더 높았다. 결론: 수술적 치료를 받은 위장관 질환의 생존율은 높고 수술적 치료의 성과도 우수하였다. 괴사성 장염 환아 중 수술군에서 직접 빌리루빈이 유의하게 더 높았다.

• Archives of Plastic Surgery
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• 제43권1호
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• pp.10-18
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• 2016

Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2-V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM.