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Happle-Tinschert Syndrome: A Case Report of Unilateral Segmentally Arranged Basaloid Follicular Hamartoma with Scoliosis and Review of Literature

Seo SH, Lee SE, Kim SC

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with...
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Therapeutic Effect of a Novel Chimeric Molecule Targeting Both Somatostatin and Dopamine Receptors on Growth Hormone-Secreting Pituitary Adenomas

Kim J, Oh JH, Harlem H, Culler MD, Ku CR, Lee EJ

BACKGROUND: Acromegaly is a rare disease primarily caused by growth hormone (GH)-secreting pituitary adenomas, and its treatment is costly. Moreover, some patients are unresponsive to treatment. Hence, there are increasing...
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Successful Treatment of a Korean Infant with Giant Cell Hepatitis with Autoimmune Hemolytic Anemia Using Rituximab

Kim YH, Kim JW, Lee EJ, Kang GH, Kang HJ, Moon JS, Ko JS

Giant cell hepatitis with autoimmune hemolytic anemia (AHA) is a rare disease of infancy characterized by the presence of both Coombs-positive hemolytic anemia and progressive liver disease with giant cell...
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Conservative management of traumatic acute intramural hematoma of duodenal 2nd and 3rd portion: A case report and review of literature

Kim SJ, Lee JH, Park SM, Kwon KH

Traumatic intramural duodenal hematoma (IMDH) is a rare disease occurring usually in children. The treatment modality of traumatic IMDH varies according to clinical manifestations. We had a case of a...
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Bow Hunter's Syndrome Caused by Bilateral Dynamic Occlusion of the Subaxial Vertebral Arteries during Neck Extension

Yi J, Han HS

Bow hunter's syndrome is a rare disease that shows the symptoms of vertebrobasilar insufficiency resulting from a dynamic obstruction or stenosis of the vertebral arteries during neck movement. This paper...
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Giant Intramyocardial Aneurysm in a Patient with Intercoronary Communication between the Left Circumflex Artery and Right Coronary Artery: A Case Report

Lee YH, Park NH, Park JY, Kim SJ

Coronary artery aneurysm is a rare disease. It occurs in the epicardial space, mostly along the course of major coronary arteries. Here, we report a case of a giant incidental...
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Occupational Characteristics of Semiconductor Workers with Cancer and Rare Diseases Registered with a Workers' Compensation Program in Korea

Park DU, Choi S, Lee S, Koh DH, Kim HR, Lee KH, Park J

BACKGROUND: The aim of this study was to describe the types of diseases that developed in semiconductor workers who have registered with the Korea Workers' Compensation and Welfare Service (KWCWS)...
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Primary Rhabdomyosarcoma of the Breast: Study of Three Cases at One Institution with a Review of Primary Breast Sarcomas

Shin J, Kim HJ, Kim DY, Gong G, Cho KJ

BACKGROUND: Primary breast sarcoma (PBS) is rare, comprising approximately 1% of breast malignancies. Rhabdomyosarcoma (RMS) accounts for an extremely small proportion of PBSs, often leading to delayed histologic confirmation. METHODS: Upon...
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A Case of Autoimmune Sensorineural Hearing Loss Responding to Cytotoxic Agent

Lee YW, Lee J, Kim MB, Chang SO

Autoimmune sensorineural hearing loss is a rare disease characterized by bilateral sensorineural hearing loss, some in a progressive pattern and others in idiopathic or fluctuating pattern, often accompanied by vestibular...
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Outcome of Neonates with Agenesis of Septum Pellucidum: A Retrospective Single Center Study

Kim YH, Lee YK, Ko SY, Shin SM

PURPOSE: Agenesis of the septum pellucidum (ASP) is a very rare disease that can be isolated or associated with other brain abnormalities. The neurological prognosis of isolated ASP remains controversial....
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Soft tissue reconstruction in wide Tessier number 3 cleft using the straight-line advanced release technique

Kim GH, Baek RM, Kim BK

Craniofacial cleft is a rare disease, and has multiple variations with a wide spectrum of severity. Among several classification systems of craniofacial clefts, the Tessier classification is the most widely...
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Regenerative Medicine of the Bile Duct: Beyond the Myth

Buisson EM, Jeong J, Kim HJ, Choi D

Cholangiopathies are rare diseases of the bile duct with high mortality rates. The current treatment for cholangiopathies is liver transplantation, but there are significant obstacles including a shortage of donors...
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Neuroendocrine Tumor of the Renal Pelvis Presenting with Urinary Tract Obstruction: A Case Report

Park S, Park KJ, Kim MH, Kim JK, Cho KS

Primary renal neuroendocrine tumor (NET) is an extremely rare disease with fewer than 100 reported cases to date. Among them, only three involved the renal pelvis, to our knowledge. Here,...
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A Case of Metastatic Malignant Melanoma Presenting as Subcutaneous Posterior Neck Mass

Lim SH, Koo BM, Kim MA, Kim SW

Malignant melanoma can be classified as both cutaneous and mucosal types. The former comprises more than 98% of all melanomas and is related to ultraviolet exposure, whereas the latter occupies...
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Sinus of Valsalva aneurysm after blunt chest trauma with complicated perforation by infective endocarditis

Hyeon CW, Park SJ, Kim SR, Kim EK, Kim SM, Chang SA, Lee SC, Sung K, Park SW

Sinus of Valsalva aneurysm (SVA), is a rare disease that may occur not only secondary to congenital or systemic diseases, but can also be related to acquired diseases such as...
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Treatment Response to Acquired Aphasia with Seizures and Prognosis through Electroencephalogram on Cognitive Function

Koo CM, Kim SH, Kim HD, Lee JS, Kang HC

PURPOSE: Acquired epileptic aphasia (AEA) accompanied by electroencephalogram (EEG) abnormality is a rare disease; therefore, there are few studies investigating the prognostic factors and treatment efficacy. We aimed to determine...
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A Case of Unilateral Vocal Fold Paralysis Secondary to Sarcoidosis

Lee OH, Bang J, Lee D, Cho JH

Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Vocal fold paralysis secondary to sarcoidosis is extremely rare but it can develop as a result of compressive lymphadenopathy, granulomatous infiltration,...
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A Case of Adipsic Hypernatremia in a Patient with Panhypopituitarism Treated with Growth Hormone Replacement

Mhun EH, Lee JH, Lee DH

Adipsic hypernatremia is a rare disease where patients do not feel thirst even in the increased serum osmotic pressure and results in electrolyte imbalance, severely increased osmotic pressure and neurologic...
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Treatment Response to Acquired Aphasia with Seizures and Prognosis through Electroencephalogram on Cognitive Function

Koo CM, Kim SH, Kim HD, Lee JS, Kang HC

PURPOSE: Acquired epileptic aphasia (AEA) accompanied by electroencephalogram (EEG) abnormality is a rare disease; therefore, there are few studies investigating the prognostic factors and treatment efficacy. We aimed to determine...
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A case of chilaiditi syndrome complicated by acute small bowel obstruction

Oh SB, Koh CY

Chilaiditi syndrome is an extremity rare disease that is typically asymptomatic, but can lead to fatal complications, such as volvulus, perforation, and bowel obstruction. This paper reports a case of...
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