Congenital adrenal hyperplasia(CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. We have analyzed CYP21 genes of CAH by PCR direct sequencing. Our results shows three cases of CAH owing to multiple mutations of CYP21 gene; first case, IVS2AS, A/G, -13, Ile172Asn; second case, IVS2AS, A/G, -13, Ile236Asn, Val237Glu, Met239Lys; third case, Ile172Asn, C to G at 1590nt, Val281Leu, Arg484Pro, G to A at 2697nt. Mutations such as Ile236Asn, Val237Glu, Met239Lys, and Arg484Pro are first noted in Korea.
Adrenal Hyperplasia, Congenital* ; Cholesterol ; Hydrocortisone ; Korea ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase

Amidarone hydrochloride, benzofuran derivatives, particularly effective for the treatment of arrythmias by prolong the duration of the action potential in all cardiac-conducting tissues. We studied the 25 patients with typical amiodarone keratopathy, retrospectively. In 25 patients, ten patients developed grade 1, eleven patients developed grade 2, and four patients developed grade 3 keratopathy. They complained of decreased best corrected visual acuity(1 patient), halos(1 patient), hypothyroidism(3 patients), pulmonary toxicity(2 patients), thpatic dysfunction(5 patients) and sleep dusturbance(3 patients). Therefore ophthalmologists should be alert for the complications of amiodarone and regular careful slit-lamp examination will be helpful in minimizing amidarone toxicity.
Action Potentials ; Amiodarone* ; Arrhythmias, Cardiac ; Humans ; Retrospective Studies

BACKGROUND: Though elastic fibers are as important as collagen fibers in interpretation of the histopathologic findings, it is impossible to observe them on the hematoxylin & eosin (H&E) stained specimen. OBJECTIVE: Characterizing eosin fluorescence emitted by elastic fibers in H&E stained specimens. METHODS: Normal skin tissue sections were stained in 4 different ways (unstained, hematoxylin only, eosin only, H&E) and observed under a fluorescence microscope using a FITC filter set. Fluorescent findings of 30 H&E-stained specimens showing abnormal dermal findings were compared with bright field findings of Miller's elastic stained specimen. RESULTS: Strong eosin fluorescence was related to the differential binding property of eosin with elastic fibers. Hematoxylin stain quenched excessive eosin fluorescence from other tissue components and contributed to better contrast. Fluorescence microscopy of H&E-stained sections was found to be especially useful in observing mature elastic fibers in the reticular dermis. In 74% of the specimens, eosin fluorescence findings of elastic fibers in reticular dermis matched well with that of specimens with elastic fiber special stain. CONCLUSION: Analysis of skin elastic fibers by fluorescence microscopy is a useful and complementary method to reveal hidden elastic fibers in H&E-stained specimens.
Collagen ; Dermis ; Elastic Tissue ; Enzyme Multiplied Immunoassay Technique ; Eosine Yellowish-(YS) ; Fluorescein-5-isothiocyanate ; Fluorescence ; Hematoxylin ; Microscopy, Fluorescence ; Skin

PURPOSE: In the pathogenesis of proliferative vitreoretinopathy (PVR), retinal pigment epithelial (RPE) cells do not undergo apoptosis after separation from the basement membrane. In order to investigate the mechanism by which RPE cells resist apoptosis in PVR, the expression of focal adhesion kinase after cryotherapy was studied. METHODS: After lensectomy and vitrectomy was performed on rabbit eyes, a retinal tear was created. Cryotherapy was applied to the tear site one week after the tear creation. Rabbits were sacrificed at 1, 4 and 7 days after the tear formation and 30 minutes, 1, 4, 7, 9, 21 days after cryotherapy. Eyes were stained with anti-focal adhesion kinase (FAK) antibody. RESULTS: Expression of FAK increased after the tear formation and remained increased until 21days after cryotherapy. CONCLUSIONS: These data show that creation of a retinal tear and cryotherapy increases FAK expression and may contribute to resistance to apoptosis.
Apoptosis ; Basement Membrane ; Cryotherapy* ; Epithelial Cells* ; Focal Adhesion Protein-Tyrosine Kinases* ; Focal Adhesions* ; Phosphotransferases ; Rabbits ; Retinal Perforations ; Retinaldehyde* ; Vitrectomy ; Vitreoretinopathy, Proliferative

We used the fluorophotometry to investigate the corneal epithelial barrier function after excimer laser photorefractive keratectomy (PRK). Twenty-five eyes of 21 subjects (13 women, 8 men) underwent PRK to correct rnyopia. Corneal epithelial healing time was measured and corneal epithelial permeability to sodiurn fluorescein was evaluated by fluorophotoinetry at I, 2, and 3 weeks after surgery. The corneal epithelial permeability increased significantly 1 week after surgery and returned to preoperative level 2 weeks after surgery. The permeability differences according to epithelial healing days and corrected diopters were not statistically significant(p>0. 05). These results suggest that PRK delays complete reconstruction of corneal epithelial barrier function. The corneal epithelium regained its functional barrier 2 weeks after PRK in patients, so, at least, during the first 2 weeks, care should be taken to miniinize further epithelial trauma from topical inedication or surgical manipulation.
Epithelium, Corneal ; Female ; Fluorescein ; Fluorophotometry ; Humans ; Lasers, Excimer* ; Permeability ; Photorefractive Keratectomy*

Chronic eosinophilic pneumonia is a rare diasease characterized by chronic infiltration of the lung with ~eosinophils, usually associated with peripheral eosinophilia. In 65% of cases, the chest rad Ogroaph shows typiical nonsegmental air-space consolidation confined to the outer third of the lung and in 25)/0 of case "photographic negative of pulmonary edema". Typical lung manifestations with 'peripheral eosinophiliSa' tahrcharacteristic of chronic eosinophilic pneumonia. In the remaining cases, radiographic findings are nonspecific and require lung biopsy for confirmation. We repot a case of chronic eosinophilic pneumonia in which chest radiograph and CT scans revealed bilateral patchy or diffuse opacity with nodules scattered throughout the lungs.
Biopsy ; Eosinophilia ; Eosinophils* ; Lung ; Pulmonary Eosinophilia* ; Radiography, Thoracic ; Thorax ; Tomography, X-Ray Computed

PURPOSE: Allelic loss on chromosome 18q is a hallmark of presence of a tummor represser gene. Recently, DPC4 (deleted in pancreatic carcinoma, locus 4), a candidate tumor suppressor gene, has been localized at 18q21. Inactivation of DPC4 gene was reported in pancreatic carcinomas, coloretal carcinomas, and prostatic carcinomas. The aim of the present study was to determine if it might be altered in stomach cancer. MATERIALS AND METHODS: We tested for DPC4 gene mutations and allelic status at 18q21 using a modified 'cold SSCP' method in 48 primary gastric carcinoma and correlated the findings with various clinicopathologic characteristics of the patients. RESULTS: The frequency of mutations in primary gastric cancer was 27.1% (13/48). Mutations of exon 1, 8, 10 were found in 2 (4.1%), 4 (8.2%) and 7 cases (14.6%), respectively. DNA sequencing of 13 cases with DPC4 mutations identified six cases (46.1%) with substitution, four cases with deletion (30.7%), and two cases (23.1%) with insertion. No significant difference was observed in the frequency of DPC4 mutations in terms of other various clinicopathologic characteristics. CONCLUSION: These findings suggest that DPC4 mutations may play a significant role in the establishment and progression of the primary gastric cancer.
Exons ; Genes, Tumor Suppressor ; Humans* ; Loss of Heterozygosity ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA ; Stomach Neoplasms* ; Stomach*

BACKGROUND: To investigate how many rookie pitchers suffered from injuries while playing in the amateur league without guidelines for prevention of excessive pitching, we analyzed their amateur pitching patterns based on the pitch count, use of breaking balls, and pitches during winter camp. METHODS: Forty-one rookie pitchers who graduated from high school or university in 2013 and joined professional baseball teams. Participants were interviewed by a trainer using our questionnaire. Injury inclusion criteria were 1) history of shoulder surgery, 2) history of elbow surgery, 3) shoulder pain requiring treatment, and 4) elbow pain requiring treatment. RESULTS: Mean number of pitches per game and warm-up pitches for practice was 84.5 pitches (range, 15 to 130 pitches) and 16.4 pitches (range, 2 to 210 pitches), respectively. Mean number of pitches during the last year was 906.9 (range, 80 to 2,000). Mean number of maximal pitches was 127 pitches (range, 50 to 210 pitches). Fourteen pitchers had pitched over 150 pitches. Twenty-seven pitchers (65.9%) had pitched in spite of enduring pain. During winter training (mean 1.8 months), mean number of pitches per day was 162.5 pitches, and 20 pitchers (48.8%) had practiced pitching excessively despite the cold weather. Twenty-six rookies (63.4%) had shoulder pain or history of shoulder surgery, and 31 pitchers (75.6%) had elbow pain or history of elbow surgery. Only four participants (9.8%) did not have pain and history of surgery. CONCLUSIONS: For young baseball pitchers, guidelines for prevention of excessive pitching and for regulating the winter training program may be needed.
Baseball* ; Education ; Elbow* ; Humans ; Shoulder Pain ; Shoulder* ; Weather

PURPOSE: The purpose of this study was to examine obstacles and supportive behaviors perceived or experienced by clinical nurses providing care for terminally ill cancer patients. METHODS: Beckstrand's survey questionnaire was translated into Korean and verified by an expert committee and through a preliminary study. A survey that used 26 questionnaire items on obstacles and 24 on supportive behaviors, was conducted among 228 registered nurses with more than one year of experience at medical-surgical general wards in a hospital. RESULTS: The highly-perceived and frequently-experienced obstacles in providing care for terminally-ill cancer patients were related to patients' uncontrollable pain or psychologically unstable family members. The highly-perceived and frequently-experienced supportive behaviors were related to caring family members or having supportive family members. However, nurses' perceptions or experiences of multiple obstacles and supportive behaviors differed by hospital type, career length, and department. CONCLUSION: Nurses seem to be in need of training for pain management for terminal cancer patients and of family care in general. Highlyperceived and highly-experienced obstacles or highly-perceived but rarely-experienced supportive behaviors should be intervened without delay considering a hospital type or nurses' career length.
Humans ; Nurses ; Pain Management ; Patients' Rooms ; Surveys and Questionnaires ; Terminal Care ; Terminally Ill*

The plantaris muscle (PM) has a small fusiform muscle belly and a long slender tendon sandwiched between the soleus (SM) and gastrocnemius muscle (GM). During routine dissection for research, an additional PM in the popliteal region of a 75-year-old Korean female was discovered. Two distinct PMs were present, the superior PM (sPM) and inferior PM (iPM). While the sPM originates from the lower lateral supracondylar ridge and the knee capsule, the iPM originates from the femoral condyle and sPM tendon splitting into two parts at the distal belly. The lateral side of the iPM tendon travels between GM and SM and ends at the calcaneal tendon. sPM and the medial side of the iPM tendon run along with the sPM tendon and inserts at the fascia at the inner surface of proximal 1/3 of the medial head of GM. This case report introduces a new variation of the PM that should be taken into consideration.