• Korean Journal of Head & Neck Oncology
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• v.32 no.1
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• pp.25-28
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• 2016

A 54-year-old female presented with a 4cm sized painless, submandibular gland area mass. Vascular lesion was suspected in computed tomography scan. Surgical excision was performed via retroauricular approach for its excellent cosmetic outcome. The vascular mass with peripheral focal calcification was clearly resected without complication such as bleeding or neural damage. Histopathological examination of the specimen revealed an arteriovenous malformation(AVM) with abnormal communications between arteries and veins without the normal intervening capillary bed. We report a successful excision of AVM in the submandibular space via retroauricular approach.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.25 no.1
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• pp.133-140
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• 1995

The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations, and the results were as follows : 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area, and reddness, pain on palpation, thrill and palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radio-nuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

• Archives of Craniofacial Surgery
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• v.25 no.4
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• pp.187-191
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• 2024

A 59-year-old woman presented to our clinic with a 3.5×3-cm protruding mass on her forehead. A skull X-ray revealed a radiolucent osteolytic lesion on the left side of the frontal bone. Additionally, computed tomography showed a 3.1×1.7×3.6-cm mass exhibiting a "sunburst" pattern situated between the outer and inner tables of the skull, just superior and lateral to the left frontal sinus. This pattern suggested the presence of an intraosseous vascular malformation (IVM). The lesion was approached via a bicoronal incision. En-bloc resection was performed, removing the mass along with approximately 0.5 cm of the surrounding normal bone without injury to the exposed frontal sinus mucosa. The exposed mucosa was reinforced with a galeal flap, and cranioplasty with bone cement was performed to repair the resulting bony defect. Pathological examination confirmed a diagnosis of intraosseous cavernous-type malformation with mixed cavernous and capillary histological features. We report this case of IVM and review the existing literature, highlighting the satisfactory functional and aesthetic outcomes after surgery.

• BMB Reports
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• v.49 no.5
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• pp.255-262
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• 2016

The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified 'loss of function' mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research.

• Journal of Chest Surgery
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• v.18 no.2
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• pp.327-333
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• 1985

Pulmonary arteriovenous fistula is a congenital malformation of the pulmonary vasculature in which there is a persistence of one or more sizable communications that bypass the pulmonary capillary bed that thus directs unoxygenated pulmonary arterial blood directly into the pulmonary venous system. The developmental cause of pulmonary arteriovenous fistula is unknown, but it is postulated that the abnormal channels represent persistent vessels of the primitive splanchnic capillary bed that do not resorb during growth and maturation. We have experienced a case of pulmonary arteriovenous fistula. The 45 years old woman admitted to Kosin Medical College Hospital via emergency room because of massive hemoptysis, and was diagnosed pulmonary arteriovenous fistula by twice postoperative histopathologic examination. The postoperative course was uneventful and she was discharged on the 16th, second postoperative day in a healthy condition.

• Journal of Chest Surgery
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• v.25 no.3
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• pp.315-320
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• 1992

Pulmonary arteriovenous fistula is a rare congenital vascular malformation resulting from abnormal capillary development with incomplete formation of vascular septum normally dividing the primitive connections between the venous and arterial plexuses. Recently we have experienced a case of the bilateral pulmonary arteriovenous fistula in 7 years-old female patient. On admission, clinical manifestations were cyanosis of lips, clubbing and cyanosis of digits, and exertional dyspnea. The PO2 in arterial blood gas analysis was 43.3mmHg. In left upper and right lower lobe pulmonary arteriovenous fistulas were confirmed by bilateral pulmonary angiography. Left upper lobectomy and wedge resection of right lower lobe were performed respectively. Postoperative results were good.

• Clinical and Experimental Pediatrics
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• v.59 no.6
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• pp.280-284
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• 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.31-34
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• 2022

Background: Arteriovenous malformations (AVMs) are rare diseases comprising abnormally dilated arteries and veins with an absence of a capillary network. Since these diseases are intractable after diagnosis, various treatment strategies have been examined, with continuous efforts to identify target genes. Here, we report relevant new target genes selected via gene microarray. Methods: Endothelial cells were isolated from samples collected from three patients with AVM and three healthy individuals, followed by microarray analysis. Additionally, quantitative PCR was performed to select genes highly relevant to AVM. Results: In the vascular endothelial cells derived from the tissues of patients with AVM, the expression of ANGPT1, ANGPT2, DLL4, IL6, NRG1, TGFBR1, and VEGFA was typically higher compared to those derived from normal tissues. Conclusion: Seven candidate genes were selected to analyze the pathophysiological mechanism of AVM. These results may aid in future directions of diagnosis and treatment.

• Tuberculosis and Respiratory Diseases
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• v.67 no.1
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• pp.52-58
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• 2009

Pulmonary arteriovenous malformation (PAVM) is a rare pulmonary vascular anomaly due to an abnormal communication between the pulmonary artery and vein. The most common presenting symptom is a dyspnea on exertion related to this right-to-left shunt. If left untreated, PAVM has been known to result in serious complications. Incomplete pulmonary capillary network can be the cause of cerebral abscesses and other noninfectious neurological complications, such as stroke and transient ischemic attacks due to paradoxic embolism Transcatheter embolotherapy, using coils or balloons, has replaced surgical resection as the treatment of choice for PAVM. However, the risk of device embolization has limited the use of coil embolotherapy, while the size of PAVM is huge. Recently, Amplatzer$^{(R)}$ Vascular Plug has been proposed as an alternative endovascular occlusion device for arteriovenous malformation. We report a case of 81-year-old male patient with a giant PAVM, which was successfully treated by transcatheter embolotherapy using the Amplatzer$^{(R)}$ Vascular Plug.

• Journal of The Korean Society of Integrative Medicine
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• v.9 no.4
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• pp.85-89
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• 2021

Background : Klippel-Trenaunay-Weber syndrome (KTS) is a rare congenital medical condition characterized by complex vascular malformation. KTS consists of a classic triad of capillary malformation (hemangioma), venous malformations and bone or soft tissue hypertrophy causing limb asymmetry. The aim of this report is to describe management for gait disturbance and foot pain in a Patient with KTS using custom-made total contact insole. Case presentation : A 32-year-old man with KTS presented with a 3-year history of gait disturbance on hard surface due to right first toe pain and Achilles tendon tightness. The patient had soft tissue hypertrophy, varicose veins and port-wine stains over the right lower limb associated with KTS. True leg length discrepancy was 2 cm. We prescribed custom-made total contact insole to protect his deformed foot and correct leg length discrepancy. The insole of right side included wedge shaped heel lift and the insole of left side included full length lift to add extra support on unaffected side. Also, we provided compression stocking and physiotherapy including manual lymphatic drainage for lymphedema and stretching exercise for tightness in right lower extremity. At 3 years follow-up, postural alignment including pelvic obliquity was improved using a custom-made total contact insole. The degree of scoliosis and foot pain were also reduced. Conclusion : An individualized and multidisciplinary approach is essential regarding the complexity of comorbidities in patients with KTS. For patients with KTS, orthotic management should be considered to prevent and correct deformities related to KTS. Active orthotic management, compression stocking and physiotherapy can enhance the quality of life and function in patients.