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

While diverticulosis of the colon is a relatively common disease, a solitary giant colonic diverticulum is rare. Although there exist some theories about the formation of the giant colonic diverticulum, none is really conclusive. The preoperative diagnosis of giant colonic diverticulum is made radiographically with findings of a large, smoothly marginated, round homogeneous radiolucency in the abdomen that is in close apposition to the colon on barium enema examination. Early surgical treatment is necessary since the complication rate is high. One case of giant colonic diverticulum is presented, the clinical, radiologic and pathologic findings are discussed, and the etiology and differential diagnosis, reviewe.
Abdomen ; Barium ; Colon* ; Diagnosis ; Diagnosis, Differential ; Diverticulum ; Diverticulum, Colon* ; Enema

PURPOSE: This study was performed to determine the effects of phytoestrogen on seminal vesicle excitability. MATERIALS AND METHODS: Single smooth muscle cells of seminal vesicle were obtained from rabbits using proteolytic enzymes(collagenase). Using single cell and channel recording methods of patch clamp, the various currents of potassium channels in smooth muscle cells were recorded. Potassium currents were divided into calcium dependent and independent. RESULTS: Most of the calcium dependent K currents were maxi-K currents and most of calcium independent ones were delayed rectifier K currents. Inside-out patch clamp technique was used to characterize the maxi-K channel. The channel showed outward rectification and calcium dependency. The single-channel conductance of this channel estimated from slope conductance was 119.4+/-11.7 pS under physiological conditions. These characteristics were typical properties of maxi-K channels. Application of genistein(10micronM) rarely affected the delayed rectifier K channel activities, but it evoked significant increase of maxi-K channel activities at both single cell and channel levels. CONCLUSIONS: From these results it is strongly suggested that the excitability and contractility of seminal vesicle might be modulated by genistein through a mechanism of maxi-K channel activation.
Calcium ; Genistein ; Large-Conductance Calcium-Activated Potassium Channels ; Muscle, Smooth* ; Myocytes, Smooth Muscle* ; Phytoestrogens* ; Potassium Channels* ; Potassium* ; Rabbits ; Seminal Vesicles*

PURPOSE: Although PSA(prostate specific antigen) is an excellent tumor marker, it is not prostate cancer-specific but organ-specific. The objective of this study is to assess the efficacy of prostate specific antigen adjusted for the transition zone voume(PSATZ) in diagnosing prostate cancer in men with intermediate PSA levels of 4.1 to 10.0 ng/ml. MATERIALS AND METHODS: Between March 1997 and September 1998, PSATZ was obtained from 67 patients who underwent ultrasound-guided systemic sextant biopsies and had a PSA of 4.1-10.0ng/ml. PSATZ was compared with PSA, PSAD(PSA density) and free-to-total PSA ratio(F/T ratio) via receiver operating characteristic(ROC) curves. RESULTS: Of 67 patients, 22(32.8%) had prostate cancer and 45(67.2%) had benign prostatic hyperplasia on pathologic examination. Mean PSA, F/T ratio, PSAD and PSATZ were 7.96+/-2.01ng/ml 0.10+/-0.06, 0.28+/-0.14ng/ml/cc and 0.70+/-0.28ng/ml/cc in patients with prostate cancer and 6.39+/-1.68ng/ml, 0.15+/-0.05, 0.16+/-0.06ng/ml/cc and 0.29+/-0.11ng/ml/cc in patients with benign prostatic hyperplasia, respectively. ROC curve analysis demonstrated that PSATZ, F/T ratio and PSAD predicted the biopsy outcome significantly better than PSA in all 67 patients(p<0.01, respectively). In a subset of 45 men with normal digital rectal examination, PSATZ predicted the biopsy outcome better than PSAD or F/T ratio significantly(p<0.01, respectively). With cutoff value of 0.35ng/ml/cc, PSATZ had a sensitivity of 86% and a specificity of 89% for predicting prostate cancer. With cutoff value of 0.12, F/T ratio had a sensitivity of 73% and a specificity of 71% for predicting prostate cancer. CONCLUSIONS: These results suggest that PSATZ is more specific and more accurate than PSA, PSAD or F/T ratio in distinguishing benign prostatic disease from prostatic cancer in men with intermediate PSA levels of 4.1 to 10 ng/ml. But large prospective studies are requested to assess the precise role of PSATZ in early prostate cancer detection.
Biopsy ; Digital Rectal Examination ; Humans ; Male ; Prostate* ; Prostate-Specific Antigen* ; Prostatic Diseases ; Prostatic Hyperplasia ; Prostatic Neoplasms* ; ROC Curve ; Sensitivity and Specificity

PURPOSE: To determine whether dynamic or conventional MR imaging is most useful for the detection of pituitary microadenoma. MATERIALS AND METHODS: The study involved 20 patients (M:F=1:19, mean age=37 years) in whom a pituitary microadenoma had been identified. Routine unenhanced coronal T1-weighted MR imaging was followed by dynamic imaging (repetition time/echo time/excitation=200/10/1, 3-mm-thick sections, 256X128 or 256 ma-trix,14X14-cm field of view, scan time=30 or 60 seconds, spin-echo pulse sequence), and contrast-enhanced coronal T1-weighted imaging was then immediately performed. Temporal changes in signal intensity were quantified with manually placed ROIs (regions of interest, circular, 3 mm 2), and tissue contrast between the pituitary gland and microadenoma was calculated. Conspicuity of the tumor margin was graded by three radiologists working independently as either 4 (excellent clear margin), 3 (good clear margin), 2 (relatively clear mar-gin), or 1 (unclear margin). RESULTS: Average peak enhancement of the pituitary gland and microadenoma occurred at 58.5 and 91.5 seconds, respectively. Maximum enhancement of the pituitary gland occurred within 30 to 60 seconds of contrast infusion (signal intensity range: 426-442), but during dynamic MR imaging, the microadenoma showed rela-tively constant enhancement (signal intensity range: 230 -250). Maximal contrast between normal pituitary gland and the microadenoma was seen at 60 seconds or in the first three sequential images. Dynamic MR images were superior to conventional T1-weighted images, with or without contrast infusion, not only in terms of tissue contrast between the pituitary gland and the microadenoma (p=0.0048), but also as regards tumor margin conspicuity (p=0.0035). CONCLUSION: Dynamic MR imaging is a useful technique in the detection of pituitary microadenoma.
Humans ; Magnetic Resonance Imaging* ; Pituitary Gland

PURPOSE: The solid variety of cerebella r tumors in adult is relatively uncommon. This study is to describe the characteristic MR findings of various solid cerebellar tumors in adult. METHODS: Twenty three cerebellar solid tumors from 22 consecutive patients over age of 15 with surgical confirmations were retrospectively evaluated with MR imaging. H istologic diagnosis included hemangioblastoma (n=6), metastasis (n=6), high-grade astrocytoma (n=3), and medulloblastoma (n=8). The MR findings were reviewed with attention to the size, the signal intensity of the tumors, pattern of enhancement, tumoral margin, degree of peritumoral edema, signal void vascular structures within and/or around the tumor, and location in relation to attachment to the pial surface of the tumor. RESULTS: Solid hemangioblastomas consistently showed slightly low or iso signal intensity on T1 -weighted images and high intensity on T2-weighted images, dense homogeneous enhancement, and signal void vessels within and/or around the mass. Metastatic tumors showed various find ings with predominantly low or iso signal intensity on T2-weighted images. Medulloblastomas was midline and/or paramidline in location, and had larger mass formation. High-grade astrocytomas revealed nonspecific MR findings with no signal void vessels. CONCLUSION: Hemangioblastoma, metastasis, malignant astrocytoma, and medulloblastoma should be included in differential diagnosis of solid cerebellar tumors in adult. Dense homogeneous enhancement and signal void vessels are characteristic of hemangioblastoma. The signal intensity of the tumor, and presence of signal void vessels, location and enhancement pattern can be some value in differential diagnosis of solid cerebellar tumors in adult.
Adult* ; Astrocytoma ; Cerebellar Neoplasms* ; Diagnosis ; Diagnosis, Differential ; Edema ; Hemangioblastoma ; Humans ; Magnetic Resonance Imaging ; Medulloblastoma ; Neoplasm Metastasis ; Retrospective Studies

Concomitant fracture of medial tubercle of posterior process and lateral process of the talus has not been reported in Korean literature. Association between fracture of lateral and posterior process of talus is not clear. We treated with open reduction and screw fixation in fracture of lateral process and with excision of fragment of posteromedial tubercle of posterior process with satisfying result.
Talus

PURPOSE: Gracilis muscle free flap transplantation is chosen in the medium sized soft tissue defect and bone exposure from trauma and chronic osteomyelitis in the lower extremity. We set a study to search for gracilis free flaps to know whether symptoms were cured or recurred in patients that have passed over 10 years from flap transplantation. MATERIALS AND METHODS: From August 1995 through September 2010, we have performed 28 cases of gracilis muscle free flap in the lower extremities. Ever since no case visited to demand any discomfort, breakdown or recurrence in the flap site on outpatient basis. We made a telephone call to patients or relatives documented in the medical record and only 2 cases visited outpatient department and 9 cases postponed the visit who satisfied with the final result but 17 cases had wrong telephone numbers. Causes, area of lower extremity, recipient vessels in the lower extremity, condition of the donor thigh and overall satisfaction of the flap transplantation in activities of daily living were investigated and written down in the medical record. RESULTS: 11 cases were reviewed after average postoperative 13.7 years. Gracilis muscle flaps were not break down at the recipient site in all cases. The wound of donor thigh wound healed good and overall activities of daily living was satisfied in all cases. CONCLUSION: Gracilis muscle flaps which had performed and followed up average 13.7 years revealed confident in the medium sized soft tissue defect and bone exposure from trauma and chronic osteomyelitis in the lower extremity.
Activities of Daily Living ; Free Tissue Flaps ; Humans ; Lower Extremity ; Medical Records ; Muscles ; Osteomyelitis ; Outpatients ; Recurrence ; Telephone ; Thigh ; Tissue Donors ; Transplants

PURPOSE: Free cancer cells in the peritoneal cavity exfoliated from a tumor are considered to be responsible for peritoneal dissemination in gastric cancer. To detect free cancer cells, a carcinoembryonic antigen (CEA) was introduced to the marker of gastric cancer. The clinical significance of detecting the carcinoembryonic antigen (CEA) mRNA in the peritoneal fluid was evaluated by RT-PCR in patients with gastric cancer. METHODS: In 50 patients with gastric cancer who received a gastrectomy, the peritoneal washing fluids were obtained and the CEA mRNA was detected by RT-PCR and a cytological examination was taken, simultaneously. The results were correlated with the stage and the recurrence of peritoneal seeding. RESULTS: Positive values of CEA mRNA from the peritoneal washing fluids were observed in 24% (12/50) of patients with gastric cancer but of 4% (2/50) showed peritoneal cytology. There were 8 cases of peritoneal seeding in the follow-up and 6 cases of them presented positive CEA mRNA values (50%, 6/12). According to the stage, positive CEA mRNA values from the peritoneal washing fluids were found in 9% (2/21) in stage I, 20% (2/10) in stage II, 33% (5/15) in stage III and 75% (3/4) in stage IV (P=0.030). In the T classification, positive CEA mRNA values were found in 13% (2/15) in T1, 10% (1/10) in T2, 30% (7/23) in T3 and 100% (2/2) in T4 (P=0.031). In the N classification, positive CEA mRNA values were found in 15% (4/26) in N0, 20% (3/15) in N1, 40% (2/5) in N2 and 75% (3/4) in N3 (P=0.055). CONCLUSION: These results suggest that the detection of CEA mRNA by RT-PCR in peritoneal fluid of gastric cancer patients was more sensitive than the peritoneal cytology, and may have a role in selecting patients with a poor prognosis who may benefit from adjuvant therapy.
Ascitic Fluid* ; Carcinoembryonic Antigen* ; Classification ; Follow-Up Studies ; Gastrectomy ; Humans ; Peritoneal Cavity ; Prognosis ; Recurrence ; RNA, Messenger ; Stomach Neoplasms*

STUDY DESIGN: A retrospective study. PURPOSE: To comparatively investigated the rate of the adjacent segment degeneration and the clinical outcomes in patients with spondylolytic spondylolisthesis, spinal stenosis or degenerative spondylolisthesis. OVERVIEW OF LITERATURE: There have been few studies reported on the adjacent segment degeneration following posterior lumbar interbody fusion(PLIF). Many risk factors for the adjacent segment degeneration following PLIF have been proposed. The range of decompression has been presented as one of the risk factors, yet controversial. METHODS: This study enrolled sixty-three patients who had been treated with single-level PLIF and who were followed up for more than two years. The patients were divided into 3 groups based on the preoperative diagnosis. We analyzed the difference between the preoperative and postoperative intervertebral disc heights of the superior adjacent segments. The incidence rates of instability and the clinical outcomes were comparatively analyzed between each group. RESULTS: The average age of the patients was 55.8 years in the spondylolytic spondylolisthesis group, 65.9 years in the degenerative spondylolisthesis group and 60.4 years in the spinal stenosis group. The average follow-up period was 44 months, 43 months and 42 months, respectively. At the last follow-up, compared to the preoperative period, the intervertebral disc height decreased in all three groups. A statistically significant decrease (p < 0.01) was observed only in the spondylolytic spondylolisthesis group and no significant difference was observed between each group (p = 0.41). The incidence rate of instability and the clinical outcome were not significantly different between each group. CONCLUSIONS: Spondylolytic spondylolisthesis with total laminectomy and single-level PLIF showed no significant difference in the superior adjacent segment degeneration and instability, and the clinical outcome as compared to that of partial laminectomy with single-level PLIF for treating degenerative spondylolisthesis or spinal stenosis.
Decompression ; Follow-Up Studies ; Humans ; Incidence ; Intervertebral Disc ; Laminectomy ; Preoperative Period ; Retrospective Studies ; Risk Factors ; Spinal Stenosis ; Spondylolisthesis