• Journal of Genetic Medicine
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• v.8 no.2
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• pp.130-134
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• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• Environmental Analysis Health and Toxicology
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• v.23 no.4
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• pp.291-299
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• 2008

Bisphenol A diglycidyl ether(BADGE)는 비스페놀 A와 에피클로로하이드린의 축합에 의해 만들어지는 물질로 상업용 액상 에폭시 수지의 주성분이다. 본 연구는 clusterin mRNA 발현이 BADGE의 노출된 생식기계 독성에 연관되어 있는지를 연구하기 위해 수행하였다. BADGE는 SPF Sprague-Dawley 임신 랏트에 임신 6일부터 수유기가지 하루에 한 번 0(대조군)과 375mg/kg/day를 경구 투여하였다. 수컷 새끼는 일반 사항과 몸무게, 일반 발달 지표(예, 항문과 생식기 사이의 거리, 이개개전, 절치붕출, 유두잔류, 안검개열, 고환하강, 포피박리 등)등을 관찰하였다. 대조군과 투여군에서 다섯 마리의 수컷 새끼는 출생 후 3, 6와 9주에 부검하여 부고환의 조직학적 변화 등을 관찰하였다. BADGE 375 mg/kg/day 투여군에서 항문과 생식기 사이의 거리는 대조군보다 길어지는 경향을 보였다. 출생 후 6주와 9주에서 부고환의 상대 무게는 대조군보다 약간 증가하였으나 조직학적인 변화는 관찰되지 않았다. BADGE 투여 군에서 clusterin mRNA 발현량은 대조군에 비해 3주에 56%, 6주에 57% 그리고 9주에 86% 감소하였다. 이런 결과는 랏트의 부고환에서 clusterin은 BADGE에 반응하는 유전자 중 하나일 수 있다는 가능성을 나타낸다.

• Journal of Veterinary Clinics
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• v.30 no.2
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• pp.131-133
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• 2013

A 9-year-old, intact female Jindo dog weighing 23 kg was presented to the Veterinary Medical Teaching Hospital of Chungnam National University with a history of two months of ocular discharge. Initial ocular examination showed a 2 cm elongated mass arising from the ventral bulbar conjunctiva of the left eye. Ocular ultrasound, performed to rule out any orbital and intraocular involvement, was negative. Thoracic radiographs and abdominal ultrasonography revealed no abnormalities. Fine needle aspiration (FNA) of mass was performed. Aspiration cytology showed the presence of a round cell population mostly characterized. A moderate amount of eosinophils was present among round cells. The mass was excised and identified hitologically as a mast cell tumor. Six months after surgical treatment, thoracic radiographs and abdominal ultrasonography did not reveal any clinical signs of local recurrence or metastatic disease.

• Journal of Oriental Neuropsychiatry
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• v.22 no.4
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• pp.135-142
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• 2011

Objectives : The purpose of this case was to investigate the effectiveness of electroacupuncture for ophthamoplegic migraine. Methods : We provided electroacupuncture therapy and prescribed oriental medicine, Joganiknoe-tang daily. We measured patient's pain by VAS(Visual Analogue Scale) and eye movement with a ruler every five days. Results & Conclusions : Any patient who has a headache with paresis of the extraocular muscle should be considered for ophthalmoplegic migraine. To diagnose ophthalmoplegic migraine, family history, past medical history, associated symptoms and signs, neurologic examinations and neuroimaging tests are needed. The symptoms of patient improved gradually within 26days from the first day of admission, and we can see her complete recovery.

• Archives of Craniofacial Surgery
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• v.12 no.1
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• pp.48-52
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• 2011

Purpose: Many advances have been made in lower eyelid reconstruction surgical procedures after tumor ablative therapy. These include skin grafts, local flaps, free flaps, and skin expansion. When a full-thickness defect of the lower eyelid is reconstructed with many free flaps, ectropion and deformity of the medial and lateral canthal areas are common late complications caused by gravitational descent. The radial forearm free flap is widely used because of its lack of bulk, ease of dissection, malleability, and hairlessness. This report introduces a novel method for preventing ectropion using a composite radial forearm free flap reconstruction and palmaris longus suspension technique. Methods: A 70-year-old man had a malignant melanoma on his left lower eyelid. The patient was referred to our department after a biopsy confirmed the initial diagnosis. A full-thickness wide resection with a 25 mm free margin was performed, and a $5{\times}8cm$ radial forearm flap was elevated with a vascularised palmaris longus tendon. The palmaris longus tendon was fixed to the medial and lateral orbital rim perisoteum and the deep temporal fascia. The buccal mucosa was grafted to reconstruct the inner conjunctival layer. The pedicle vessels were anastomosed to the left superficial temporal artery and vein. Results: The postoperative clinical course was uneventful. The flap showed good texture and color match. No ectropion was noted 14 months after surgery and the tumor did not recur. The patient was quite satisfied with the final outcomes. Conclusion: Use of a radial forearm free flap and the palmaris longus tendon is an effective method for a full-thickness lower eyelid reconstruction.

• Journal of Yeungnam Medical Science
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• v.31 no.2
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• pp.135-138
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• 2014

A 34-year-old female was suffered from pain and numbness of right arm for 2 months after undergoing a thoracoscopic procedure for a posterior mediastinal mass that was diagnosed as neurilemmoma. The patient was diagnosed as a complex regional pain syndrome type 2 with brachial plexopathy developed during thoracoscopic excision of posterior mediastinal mass, and stellate ganglion block (SGB) with 0.2% ropivacaine 10 mL was performed every 3-4 days. The patient revealed slightly prolonged blepharoptosis as Horner syndrome accompanied after every SGB and recovered. However, following the 23rd SGB, the blepharoptosis persisted and patient was recovered spontaneously from blepharoptosis after about 12 months. The possibility that the persistent blepharoptosis might be caused by brachial plexopathy related to patient's pathology or surgical manipulation and/or repeated SGB. If Horner syndrome occurs, its etiology should be assessed, and it would be necessary to explain and to assure the patient the possibility of recovery spontaneously from the complication within a year, without any sequelae.

• The Journal of Internal Korean Medicine
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• v.40 no.5
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• pp.888-893
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• 2019

Objective: The purpose of this case report was to evaluate the effectiveness of Korean medicine for treating unilateral ptosis with paramedian midbrain infarction. Methods: One patient with unilateral ptosis with paramedian midbrain infarction was treated with acupuncture, electroacupuncture and herbal medication for 32 days. We evaluated changes in ptosis by measuring the vertical distance for the frontal gaze of the right eye. Result: After 32 days of Korean medicine treatment the vertical distance for the frontal gaze of the right eye increased from 0 to 9 cm. Conclusion: The study findings suggest that Korean medicine might be effective in treating ptosis due to a paramedian midbrain infarction.

• The Journal of the Convergence on Culture Technology
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• v.5 no.4
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• pp.355-359
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• 2019

Schirmer test is one of the most used methods for the diagnosis of dry eye. We attempted to develop a tear level measurement tool to replace unreliable Schirmer test with inaccurate results. Absorbency tests for various absorbents were carried out. As a result, ${\alpha}$ cellulose pulp was selected as the absorbent. Prototypes were produced and evaluated twice. Finally a tear level measurement tool in the form of a strip of ${\alpha}$ cellulose pulp adhered to a polyurethane was prepared. Usability evaluation of prepared tear level measurement tool was performed. As a result, it was confirmed that it has a significant correlation with SM tube developed oversea recently. In addition, it was judged to be useful as an alternative to the Schirmer test in terms of measurement time and accuracy.

• The Journal of Internal Korean Medicine
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• v.40 no.3
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• pp.534-540
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• 2019

This study aimed to report the improvement in a vascular oculomotor nerve palsy patient treated with Korean medicine. A 68-year-old man with vascular oculomotor nerve palsy was treated with acupuncture, pharmacopuncture, and an herbal medicine (Gangwhalyufung-tang). This case was measured and assessed by the numerical rating scale (NRS), EuroQol-5 Dimension Index (EQ-5D), score of diplopia, and ratio of MRD1. The NRS decreased, and the patient showed improvement in EQ-5D, score of diplopia, and ratio of MRD1. Korean medicine treatments are considered helpful in treating diplopia and ptosis due to vascular oculomotor nerve palsy.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.95-98
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• 2018

A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.