• The Journal of Internal Korean Medicine
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• v.38 no.2
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• pp.264-269
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• 2017

CREST syndrome is a form of limited cutaneous scleroderma that occurs only in certain parts of the body, such as the skin of the hands and face. CREST refers to the five main features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia. Currently, there is no standard treatment for CREST syndrome, and there have been no studies of the use of traditional Korean medicine (TKM) for this disease. This study describes the effects of Keumsuyukun-jeon on CREST syndrome. The patient in this case had typical clinical symptoms of CREST syndrome. These symptoms improved within a relatively short period of receiving the TKM treatment. The results of Anti-centromere antibody (AI) and high sensitivity C-reactive protein (mg/L) also improved.

• Tuberculosis and Respiratory Diseases
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• v.47 no.2
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• pp.150-160
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• 1999

Background: The CREST syndrome is an indolent form of progressive systemic sclerosis. Although its clinical progress is indolent, pulmonary hypertension(PH) associated with CREST syndrome have grave prognosis with over 40 percent mortality rate at 2 year follow-up. But the pathogenesis of pulmonary hypertension in this disease is not known, and classified as either primary or secondary PH. Clonality of endothelial cell proliferation in plexiform lesion is a molecular marker which allows distinction between primary and secondary PH. We performed this study to know whether the PH associated with CREST syndrome is a variant of primary PH or is a secondary PH. Methods: We assessed the X-chromosome inactivation based on the methylation pattern of the human androgen-receptor gene by PCR(HUMARA). Endothelial cells in plexiform lesions from female patients(n=3) with PH associated with CREST syndrome were microdissected from paraffin blocks. Vascular smooth muscle cells and lung parenchyma were also microdissected for clonality studies. Results: The proliferating endothelial cells in 14 plexiform lesions were all polyclonal. Similarly proliferated smooth muscle cells from 5 vessels with medial hypertrophy were also polyclonal. Conclusion: These results suggest that the pulmonary hypertension associated with CREST syndrome has different pathogenesis from primary PH and to be classified as secondary PH.

• The Korean Journal of Pain
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• v.13 no.1
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• pp.111-114
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• 2000

Pain around the posterior iliac crest area is usually attributed to disorders of the lower lumbar or lumbosacral spine. However, low back pain arising from the thoracolumbar region is common and it is very similar to low back pain of lumbosacral origin. Low back pain of thoracolumbar origin is clinically distinguished from other nonspecific low back pain syndrome. It is characterized by symptoms localized at one posterior iliac crest innervated by posterior branch of $T_{12}$ spinal nerve. Patients never complain of spontaneous pain at the thoracolumbar junction. Only localized tenderness over involved segments of thoracolumbar junction can be noted. We report two cases of posterior iliac crest pain of thoracolumbar origin which was relieved by the treatment on the thoracolumbar junction.

• Journal of Korean Neurosurgical Society
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• v.37 no.2
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• pp.137-140
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• 2005

Most vascular disorders tend to affect both the brain and heart, and among them, a clinical syndrome constituting cerebral aneurysm and aortic coarctation(AC) has been well recognized. Persistent hypertensive impact to the cerebral vasculature with developmental anomaly of the neural crest, precursor of ectomenchymal, would be closely associated with development of the cerebral aneurysm in AC. Gonadal steroid hormone, a guardian of the cardiovascular system, has been known for its protective effects on the vascular wall. Gonadal steroid hormone (androgen) insensitivity such as 46,XY female syndrome may increase the risk of hypertention and subsequent vascular anomalies. The authors report on a 46-year-old 46,XY female patient with AC who underwent surgical clipping of the ruptured cerebral aneurysm. Clinical implications and proposed pathogenetic mechanisms of aneurysm in this intersex syndrome are presented and discussed.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

• Advances in pediatric surgery
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• v.5 no.2
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• pp.146-151
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• 1999

Neurocristopathy originates from aberrant development of the neural crest by genetic abnormality. Dysgenetic or neoplastic neurocristopathy mayor may not combine at one or more organs. Congenital central hypoventilation syndrome (Ondine's curse) is characterized by the respiratory depression during sleep, although showing normal ventilation while awake, because the baby does not responde to hypercapnea or hypoxia. One newborn girl, full-term, 3,020 g of birth weight with neurocristopathy is reported. It showed poor respiration at birth, and temporary Improvement with oxygen and respiratory stimulations. Abdomen was distended. Abdominal x-ray revealed small bowel obstruction and calcified opacity at the right lower quadrant. Because transitional zone was noticed at the distal jejunum during laparotomy, jejunostomy was performed. Several times trial of extubation have failed becaused of the repeated apneas. Brain sonography and echocardiogram were normal. The patient died of sepsis at 37 days of age. Para-aortic ganglioneuroblastoma was found at autopsy. In this case, congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma are combined as a neurocristopathy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.2
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• pp.94-98
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• 2010

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. The incidence of Axenfeld-Rieger syndrome has been estimated to be 1 per 200,000. The syndrome is characterized by short body stature, delayed bone age, and deficient or arrested development of neural crest cells involving the anterior chamber of the eyes, facial bones, teeth, periumbilical skin, and cardiovascular system. This is a case of a 6 year-old girl, who came to the department of the pediatric dentistry, Yonsei University Dental Hospital, for evaluation and treatment of multiple congenital missing permanent teeth. The patient presented typical dental, craniofacial, and systemic features of Axenfeld-Rieger syndrome, such as glaucoma, oval pupil, heterochromatic iris, umbilical hernia, and delayed bone age. On the panoramic view, 3 primary teeth were missing and 13 permanent tooth germs were absent. On the lateral cephalograph, underdevelopment of the maxilla and normal growth pattern of the mandible were confirmed. Periodic dental follow-up is planned for evaluation and interceptive treatment of her dental and craniofacial problems. Denture or removable space maintainer with a pontic is considered for esthetic and functional restoration. In addition, orthognathic surgery is also planned in future to prevent further midfacial skeletal deformation. Early diagnosis of Axenfeld-Rieger syndrome is very important to prevent exacerbation of complications, such as glaucoma and skeletal deformities.

• Journal of the korean academy of Pediatric Dentistry
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• v.32 no.2
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• pp.256-261
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• 2005

Scleroderma is a connective tissue disease of unknown etiology, but known as a kind of auto-immune disease. It is most common in women especially in $30{\sim}50$ years, and very rare in childhood. It can be classified into two main classes : localized scleroderma & systemic sclerosis. Localized type has better prognosis, and usually involves skin only, or in some cases, the muscle below, except inner organs. Systemic type involves skin, oral mucosa and major internal organs. Involving facial skin, we can see small and sharp nose, expressionless stare and narrow oral aperture. Usually they have Raynaud's phenomenon, and in progress, show mouth opening limitation and sclerosis of tongue and gingiva. It is called CREST syndrome showing calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangioectasia. Treatment of scleroderma is systemic and localized steroid therapy, use of collagen-link inhibitor (D-penicillamine), immune depressor and etc. Mouth opening limitation can be improved by mouth stretching exercise. We report a 6 years old boy, diagnosed with localized scleroderma who had mouth opening limitation. We could get additional mouth opening, and have done successful restorative treatment of mandibular and maxillary 1st and 2nd deciduous molar under deep sedation with nitrous oxide and enflurane.

• The Journal of Korea Institute of Information, Electronics, and Communication Technology
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• v.14 no.5
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• pp.421-429
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• 2021

The purpose of this study was to identify the change in the girth of anthropometric variables during menstrual cycle, and to provide basal data for health promotion program development during pre-menstrual phase and menstrual phase. Participants were 10 healthy women university students without menstrual irregularity, subjective premenstrual syndrome, premenstrual dysphoric disorder, dymenorrhea, obstetrician and gynecologic disease. Chest girth(axillary and papillary), waist girth(half point between iliac crest and 12th rib, and navel), and hip girth were repeatedly measured in menstrual phase, follicular phase, luteal phase during single menstrual cycle. As a result, axillary chest girth in menstrual phase was significantly increased than that in luteal phase. Papillary chest girth and waist girth at half point between iliac crest and 12th rib in menstrual phase were significantly increased than those in follicular phase. No significance was shown in chest and waist girth between follicular and luteal phase. No significance was shown in hip girth during menstrual cycle. In conclusion, signicant difference was shown in chest and waist girth during menstrual cycle. And it is suggested that succeeding research should be carried out with reference to body weight, body fat, blood and local hormone concentration during menstrual cycle.

• Korean Journal of Head & Neck Oncology
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• v.12 no.2
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• pp.161-168
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• 1996

The neuorogenic tumor is known to be originated from neural crest, and the involved cells are Schwann cell, ganglion cell, and paraganglion cell. The Schwannoma, neurofibroma, and malignant schwannoma arise from the schwann cell, ganglioneuroma is from ganglion cell, and carotid body tumor and glomus tumor are originated from paraganglion cell. Authors reviewed thirty-eight patients of the neurogenic tumors in the head and neck, excluding intracranial tumor and Von-Recklinghausen disease, surgically treated at the Department of Surgery, Pusan Paik Hospital from January 1981 to May 1996. Of the 38 cases, 28 cases were schwannoma, 6 cases neurofibroma, 2 cases malignant schwannoma, and 2 cases paraganglioma. These tumors occurred at any age, but the majority of patients occurred in the fourth decade of life. There was female preponderance (M : F=1 : 1. 53) in sex ratio. The lateral cervical region was the most common distribution. 12 cases arose from the anterior triangle of neck, and 12 cases from the posterior triangle of neck. The major nerve origin of tumor could be identified in 30 cases (80%). 11 cases were treated by simple excision, and partial excision was 3 cases. Excision with parotidectomy 1 case, enucleation 11 cases, enucleation with parotidectomy 7 cases, radical neck dissection 1 cases, upper neck dissection 2 cases, suprahyoid dissection 1 case, Caldwell­Luc operation 1 case. The postoperative complications were hoarseness (2 cases), facial palsy (1 case), Homer syndrome (1 case), and hypoesthesia of tongue (1 case).