PURPOSE: Prader-Willi Syndrome(PWS) is caused by absence of paternal contributions of the chromosome region 15q11-q13. To detact this region, high resolutional cytogenetic analysis, FISH with probe at PWS critical region or microsatellite polymorphism can be used. The gene for the small nuclear ribonucleoprotein polypeptide N(SNRPN) is not expressed in patients with PWS. We conducted molecular analysis with RT-PCR with SNRPN primers to find out more useful diagnostic tool in PWS. METHODS: Four patients with obesity and other characteristics of PWS were studied. The exprssion of SNRPN and control gene were studed by RT-PCR from peripheral lymphocytes. RESULTS :The SNRPN expression in reverse transcribed RNA from blood were easily detected in normal control but not in patients with suspected Parder-Willi Syndrome. CONCLUSION: We conclude that SNRPN expression study is a useful diagnostic method for detection of Prader-Willi Syndrome.
Cytogenetic Analysis ; Humans ; Lymphocytes ; Microsatellite Repeats ; Obesity ; Pathology, Molecular* ; Prader-Willi Syndrome* ; Ribonucleoproteins, Small Nuclear ; RNA ; snRNP Core Proteins*

Edwards syndrome is first introduced by Edwards and characterized by facial anomalies, multiple cardiovascular, gastrointestinal, urogenital, and skeletal malformations. It results from triplication of part or all of chromosome 18 in some or all of the patient's cells. It has an incidence of 1 in 4,500 live births or less and short life expectancy. Recently we experienced a case of 3-day-old female new born infant with this syndrome. Post mortem examination showed progeric face with prominent occiput, large flabby ears, microphthalmia, and micrognathia, bilateral clenched hands with flexion contraction of middle fingers, and bilateral rockerbottom feet. Internal examination revealed horseshoe kidney, esophageal atresia with tracheoesophageal fistula, two accessory spleens, and multiple cardiac anomalies. A trisomy 18 was confirmed by the cytogenetic study.
Infant ; Male ; Female ; Infant, Newborn ; Humans ; Incidence

PURPOSE: Nocturia and enuresis are common voiding problems in spinal cord injured patients despite a variety of management. The purpose of this study is to determine the efficacy of desmopressin, a synthetic analogue of antidiuretic mono, as an alternative treatment in the management of spinal cord injured(SCI) patients with neurogenic bladder dysfunction unresponsive to conventional therapy. MATERIALS AND METHODS: Fourteen SCI patients with nocturia or enuresis were included in this study. The patients received 10microgram desmopressin intranasally at bedtime once every 24 hours. RESULTS: There was a significant decrease in nocturnal urinary volume, frequency of nocturia and nocturnal enuresis during nighttime after desmopressin administration. Two patients stopped desmopressin because of side effects. 8 of 12 patients improved with desmopressin and the remainder had no effect. There was no serum abnormality, although there were side effects in three cases, such as gastro-intestinal trouble, chest discomfort or nasal congestion. CONCLUSIONS: Desmopressin is safe and effective in the management of nocturia or enuresis due to neurogenic bladder dysfunction in selected SCI patients.
Deamino Arginine Vasopressin* ; Enuresis ; Estrogens, Conjugated (USP) ; Humans ; Nocturia ; Nocturnal Enuresis ; Spinal Cord Injuries ; Spinal Cord* ; Thorax ; Urinary Bladder, Neurogenic*

PURPOSE: To analyze the reasons for glaucoma evaluation and distribution of new patients visiting the glaucoma department. METHODS: In a retrospective study, 330 new patients underwent ocular examination using Goldmann applanation tonometry, gonioscopy, optic disc analysis, optical coherence tomography, and Humphrey perimeter under suspicion of glaucoma for the first time in the Glaucoma Department from January 2013 to December 2013. We analyzed the reasons and their diagnostic outcomes. RESULTS: The reasons for glaucoma evaluation were health screening (103 patients, 32.49%), other symptoms (102 patients, 31.55%), known glaucoma (56 patients, 17.67%), pre-refractive surgery evaluation (31 patients, 9.78%), family history (19 patients, 5.99%), and high myopia (6 patients, 1.89%). The diagnostic outcomes were as follows: glaucoma (139 patients, 43.85%), glaucoma suspect (60 patients, 18.93%), ocular hypertension (9 patients, 2.84%), neither glaucoma nor ocular hypertension (79 patients, 24.92%), normal (30 patients, 9.46%). The percentages of confirmed glaucoma according to the reasons for glaucoma evaluation were as follows: health screening, 26.21%; other symptoms, 40.20%; known glaucoma, 85.71%; pre-refractive surgery evaluation, 58.06%; family history, 15.79% and high myopia, 33.33%. CONCLUSIONS: The reasons for glaucoma evaluation were diverse. Glaucoma was confirmed in 43.85% of the patients and the predicted value of positive test for glaucoma including glaucoma suspect and ocular hypertension was 65.62%.
Glaucoma* ; Gonioscopy ; Humans ; Manometry ; Mass Screening ; Myopia ; Ocular Hypertension ; Outpatients* ; Retrospective Studies ; Tomography, Optical Coherence

The Laugier-Hunziker syndrome is a rare syndrome characterized by macular hyperpigmentation of the lips and buccal mucosa associated with melanonychia. Onset is usually in adult life and no consistent systemic associations have been reported. Here we report a 39-year-old wonam with a longitudinal pigmented band on a finger and pigmented macules on the lip. We suggest that this is the first report in Korea and the syndrome is presumably more common than recognized.
Adult ; Fingers ; Humans ; Hyperpigmentation ; Korea ; Lip ; Mouth Mucosa

No abstract available.
Classification* ; Humans ; Spinal Cord* ; Urodynamics*

We report a case of fatal fungal peripheral suppurative thrombophlebitis, caused by Candida albicans, which was disseminated to the blood, lungs, eyes, and spine. Clinical suspicion and aggressive management are important in managing fungal peripheral suppurative thrombophlebitis. Early clinical suspicion is important in managing fungal peripheral suppurative thrombophlebitis, and radical excision of the affected veins, recognition of metastatic foci, and use of systemic antifungal agents are essential to avoid septic shock and death.
Amphotericin B/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Candida albicans ; Candidiasis/blood/*diagnosis/surgery ; Echocardiography ; Fatal Outcome ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Postoperative Complications/diagnosis/*microbiology ; Rectal Neoplasms/diagnosis/surgery ; Thrombophlebitis/*diagnosis/microbiology

Onychomycosis is a common disease that requires appropriate management. Systemic antifungal agents are current standard for onychomycosis treatment. Considering high recurrence rate, selection of the systemic antifungal agent should be based primarily on the causative organism, the potential adverse effects and the risk of drug interactions. Herein, we reviewed systemic antifungal agent for onychomycosis.
Antifungal Agents ; Drug Interactions ; Fluconazole ; Itraconazole ; Onychomycosis* ; Recurrence

This study was performed to evaluate the effect of freeze-dried bone graft on space-making capacity and bone formation in the procedure of guided bone regeneration with titanium reinforced ePTFE membrane. After decortication in the calvaria, GBR procedure was performed on 8 rabbits with titanium reinforced ePTFE membrane filled with human FDBA(Rocky Mountain Tissue Bank, Aurora Co., USA). Decortication was performed to induce the effect of bone forming factor from bone marrow. The animals were sacrificed at 2 weeks, 4 weeks, 8 weeks and 12 weeks after the surgery. Non-decalcified specimens were processed for histologic analysis. The results of this study were as follows: 1. Titanium reinforced-ePTFE membrane was biocompatable and capable of maintaining the space-making. 2. FDBA particle was surrounded with connective tissues but there was no evidence on new bone formation. 3. FDBA particle resorbed continuously but it remained until 12weeks after the surgery. Within the above results, TR-ePTFE membrane could be used effectively for Guided bone regeneration but It was assumed that FDBA does not appear to contribute to bone formation.
Animals ; Bone Marrow ; Bone Regeneration ; Connective Tissue ; Humans ; Membranes ; Osteogenesis ; Rabbits ; Skull ; Tissue Banks ; Titanium ; Transplants*

The Ministry of Science and ICT and the Ministry of Health and Welfare of the Republic of Korea have organized the first National Committee for Dementia Research, to which all domestic experts in the field have been invited as they endeavor to achieve ‘national dementia liability’, which is one of the core national agenda items of the current Korean government. To make this initiative sustainable and bring dementia under control, we should not focus only on providing care and economic support to the family of patients with dementia. Instead, a large-scale, long-term research and development (R&D) strategy for dementia prevention, diagnosis, and therapy is warranted. This R&D project comprises several parts: 1) elucidation of the etiology and prevention of dementia, 2) innovative diagnostics for dementia, 3) tailored therapies for dementia, and 4) tangible and effective care for dementia. Given the fact that dementia is a very heterogeneous condition involving multiple pathogenic factors and typically having a chronic disease course, comprehensive and integrated approaches across various disciplines should be explored for primary, secondary, and tertiary prevention of this disease. With the success of this R&D project, the national dementia liability system will gain momentum and come into its own. Integrated efforts in terms of both policyrelated and scientific initiatives would allow us to take a step closer to realizing our shared goal of living in a world of dementia carefree.