• Journal of Genetic Medicine
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• v.10 no.1
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• pp.57-61
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• 2013

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.29 no.1
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• pp.19-23
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• 2018

Ultrasonography has increasingly moved from being a modality confined to the radiology department to an active diagnostic and therapeutic aid available to the head and neck at the point of patient care. However, the application of ultrasonography to the laryngeal disorder is very rare due to progressive age-related ossification of laryngeal cartilage and the presence of air in the lumen, which contribute to difficult conditions for transmission of the ultrasonic waves. The observation about the movements of larynx or surrounding structures is important to understand the physiology of phonation or swallowing and to diagnose the disease. Ultrasonography is a noninvasive and safe imaging technique that can be used to investigate the anatomic structures of the head and neck. Recently, the development of high-frequency ultrasonography makes it possible to apply the ultrasound in the evaluation of larynx.

• Clinics in Shoulder and Elbow
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• v.18 no.3
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• pp.159-161
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• 2015

Arthroscopic repair of an isolated teres minor tendon tear without associated shoulder joint pathology has not been reported in the literature. We report on a case of isolated teres minor tendon tear after trauma. The patient complained of severe shoulder pain and progressive limited range of motion 4 months after the injury. Magnetic resonance imaging showed a full-thickness tear of the teres minor tendon at its musculotendinous junction and arthroscopic repair was performed. At 2 years follow-up, satisfactory clinical and radiological outcomes were observed with return to pre-injury level. Here, the authors report this case and provide a review of literature.

• Proceedings of the Korean Society of Applied Pharmacology
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• 2006.04a
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• pp.95-105
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• 2006

Alzheimer's disease (AD) is an irreversible, progressive brain disorder that is characterized by dementia. Amounts of p25 and cdk5 kinase activity are specifically upregulated in AD patient's brain samples. Considerable evidence now points importance of p25/cdk5 in generation of A$\beta$ peptides and hyperphosphorylation of tau linking amyloid plaques and neurofibrillary tangles, two major pathological hallmarks of AD. We demonstrated that P25/CDK5 phosphorylates BACE1, the first step protease to produce A$\beta$. P25/CDK5 inhibitors to reduce BACE1 phosphorylation and the secretion of A$\beta$ are screened through in silica, in vitro, and cell-based assays. Out of 4.3 million chemicals we finally selected two compounds to have IC50 of 10 microM in cell-based assays. The inhibitors block Tau phosphrorylation as well as BACE1 phosphorylation. In conclusion P25 should be one of the best targets for AD therapeutics.

• Journal of Chest Surgery
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• v.50 no.2
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• pp.110-113
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• 2017

A 43-year-old man who had had a history of atrial septal defect (ASD) device closure 31 months previously presented with abrupt chest and back pain along with progressive cardiogenic shock and cardiac arrest. After resuscitation, he was diagnosed with cardiac tamponade. Diagnostic and therapeutic surgical exploration revealed left atrium (LA) perforation due to LA roof erosion from a deficient aortic rim. Device removal, primary repair of the LA perforation site, and ASD patch closure were performed successfully. The postoperative course was uneventful. The patient was discharged after 6 weeks of empirical antibiotic therapy without any other significant complications.

• Journal of Korean Neurosurgical Society
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• v.44 no.1
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• pp.36-39
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• 2008

Although tuberculosis of the central nervous system is well known, the incidence of intramedullary tuberculomas is low and a combination of intramedullary with intracranial tuberculomas is extremely rare. We report a case of disseminated tuberculoma involving brain and spine with miliary pulmonary tuberculosis in a 66-year-old woman initially presenting with fever, general weakness, back pain and motor weakness of both lower extremities. Despite medical therapy, she developed progressive motor weakness of both lower extremities with muscle strength 1/5 in both lower extremities. Urgent surgical intervention was followed and her muscle power and motor functions were improved gradually. The anti-tuberculous drugs were continued and the follow-up magnetic resonance imaging (MRI) of brain and spine showed that the lesions had become smaller or disappeared.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.1-4
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• 2016

Mucolipidosis type II (MLII; MIM#252500) and type III alpha/beta (MLIIIA; MIM#252600) very rare lysosomal storage disease cause by reduced enzyme activity of GlcNAc-1-phosphotransferase. ML II is caused by a total or near total loss of GlcNAc-1-phosphotransferase activity whether enzymatic activity in patient with ML IIIA is reduced. While ML II and ML III share similar clinical features, including skeletal abnormalities, ML II is the more severe in terms of phenotype. ML III is a much milder disorder, being characterized by latter onset of clinical symptoms and slower progressive course. GlcNAc-1-phosphotransferase is encoded by two genes, GNPTAB and GNPTG, mutations in GNPTAB give rise to ML II or ML IIIA. To date, more than 100 different GNPTAB mutations have been reported, causing either ML II or ML IIIA. Despite development of new diagnostic approach and understanding of disease mechanism, there is no specific treatment available for patients with ML II and ML IIIA yet, only supportive and symptomatic treatment is indicated.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.4
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• pp.168-172
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• 2014

Bilateral coronoid hyperplasia causes painless progressive trismus, resulting from coronoid process impingement on the posterior aspect of the zygomatic bone. The etiology of coronoid hyperplasia is unclear, with various theories proposed. An endocrine stimulus, increased temporalis activity, trauma, genetic inheritance and familial occurrence have all been proposed, but no substantive evidence exists to support any of these hypotheses. Multiplanar reformatting of axial scans and 3-dimensional reconstruction permit precise reproduction of the shape and size of the coronoid and malar structures, and relationships of all structures of the temporal and infratemporal fossae. This case shows remarkably increased mouth opening by coronoidectomy in a patient who complained of trismus due to hyperplasia of coronoid process.

• Journal of Korean Neurosurgical Society
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• v.47 no.4
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• pp.302-305
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• 2010

Hodgkin's disease presenting with spinal cord compression owing to extradural and bone involvement is extremely unusual. A 48-year-old man presented with progressive lower extremity weakness resulting from spinal cord compression attributable to an epidural mass in the thoracic vertebrae. The patient underwent decompressive surgery, and was then treated with chemotherapy for Langerhans cell histiocytosis. However, the disease progressed, and we performed second decompressive surgery with stabilization. Subsequent histopathological investigations revealed Hodgkin's lymphoma of the bone. Here, we describe an unusual case of spinal Hodgkin's lymphoma and Langerhans cell histiocytosis to draw attention to this combination as a possible diagnosis in patients with mixed inflammatory cell infiltrate lesions in the spine.

• Journal of Korean Neurosurgical Society
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• v.59 no.4
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• pp.420-424
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• 2016

The spinal dural arteriovenous fistula (SDAVF) is rare, presenting with progressive, insidious symptoms, and inducing spinal cord ischemia and myelopathy, resulting in severe neurological deficits. If physicians have accurate and enough information about vascular anatomy and hemodynamics, they achieve the good results though the surgery or endovascular embolization. However, when selective spinal angiography is unsuccessful due to neurological deficits, surgery and endovascular embolization might be failed because of inadequate information. We describe a patient with a history of vasospasm during spinal angiography, who was successfully treated by spinal stereotactic radiosurgery using Novalis system.