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

PURPOSE: To assess the high-resolution CT and pathologic findings of fat embolism experimentally induced in rabbit lung. MATERIALS AND METHODS: Twelve rabbits were divided into four groups, namely control, 2-hour, 24-hour, and 72-hour, with three rabbits in each, and closed tibiofibular fractures were induced. After the rabbits were sacrificed, high-resolution CT scanning of the artificially inflated lungs was performed, and the CT findings were analyzed by two radiologists. They determined the presence or absence of ground glass opacity or consolidation, the extent of the lesions (using a 10% grading scale), and their distribution, reaching a consensus. The pathologic findings were analyzed using the specimens prepared by H & E and Oil-red O staining. RESULTS: Although the high-resolution CT findings of pulmonary fat embolism were nonspecific, bilateral patchy ground glass opacity (100%), and focal air-space consolidation surrounding the bronchovascular bundle (89%) were most common. In all groups, the occlusion of vessels by fat globules was confirmed by Oil-red Ostaining. The microscopic findings included focal pulmonary hemorrhage, edema, alveolar collapse, and extensive infiltration of inflammatory cells in the lung parenchyma. The 24-hour group showed more extensive change in high-resolution CT and pathologic findings than did the others. CONCLUSION: Fat embolism in rabbit lung may occur after closed tibio-fibular fracture. The extent of the lesion revealed by high-resolution CT correlated closely with the pathologic findings. High-resolution CT may thus be helpful for the detection of pulmonary fat embolism and evaluation of its extent.
Consensus ; Edema ; Embolism, Fat* ; Glass ; Hemorrhage ; Lung* ; Pulmonary Embolism ; Rabbits ; Tomography, X-Ray Computed

By the expansion of stalk of laminaria inserted into the right epidural space of the rabbit head, cerebral compression and edema were produced. The studies of the occurrence and changes of experimental brain edema have been observed by weighing the wet and dry brain tissue, and by calculating the percentage of water content and that of swelling, with rate of per cent water content to that of control group. The percentage of water content and swelling of cerebral gray and white matters in the compressed site showed higher values than those in control and in non-compressed groups. As compared with normal group, the rate of per cent water content of cerebral gray matter at the site of compression showed gradually increasing tendency as time elapsed by 12 hours, while that of white matter demonstrated a increase of it by 24 hours and decreased gradually thereafter. Cerebral edema induced by laminaria compression was more evident and severe in the white matter than in the gray. Oxygen and glucose that are utilized the brain are two of the most important substances and play very important roles in the brain to form high energy bond and nucleic acid. Authors have attempted to measure oxygen consumption in normal rabbit brain and diseased brain that are produced by the expansion of stalk of laminaria in the intracranial epidural space. The value of oxygen consumption of cerebral gray and white matters in the compressed hemispheres showed higher values than those in control group, and they revealed a tendency of rather rapid increases at early experimental stages, an of gradual decrease thereafter.
Brain Edema* ; Brain* ; Edema ; Epidural Space ; Glucose ; Head ; Laminaria ; Oxygen ; Oxygen Consumption

45 eyes of 37 adult patients with nasolacrimal duct[NLD]obstruction were treated with silicone tube intubation. Silicone tube was removed between 1 and 12 months[mean 3.96 months]after surgery. After variable follow-up periods of 3 to 23 months[mean 6.82 months], 57.8%showed no epiphora, 28.9% showed intermittent epiphora and 13.3%showed ersistent epiphora. Complications were minimal and did not affect the outcome. We recommend that silicone intubation can be an alternative to dacryocystorhinostomy in selected adult patients. It is safe and less traumatic procedure with relatively high success rate in partial NLD obstruction and total obstruction with recent onset.
Adult ; Dacryocystorhinostomy ; Follow-Up Studies ; Humans ; Intubation* ; Lacrimal Apparatus Diseases ; Nasolacrimal Duct* ; Silicones*

Retinal degeneration caused by a hereditary defect in the genome is reported in a few animals and it leads to blindness. rd mouse is one of the well studied animal models for retinal degeneration. The retinal degeneration of rd mouse is caused by a mutation on cGMP-phosphodiesterase(PDE). Caspase activation has been implicated for apoptosis. In this study, we examined the activation of caspase-3 during photoreceptor degeneration in rdmouse. Photoreceptor degeneration of rd mouse occured at PD 9 and disappeared at PD 21.In addition, we observed the active form of caspase-3 in the retinal degeneration of rd mouse. In conclusion, the cell death pattern of photoreceptor degeneration in rd mouse seemed to be an apoptosis rather than necrosis.
Animals ; Apoptosis ; Blindness ; Caspase 3* ; Cell Death ; Genome ; Mice* ; Models, Animal ; Necrosis ; Retina* ; Retinal Degeneration

We have retrospectively studied 118 eyes of 91 diabetic patients which underwent cataract surgery and followed up at least 3 months and the postoperative corrected visual acuity compared according to the degree of retinopathy, duration of diabetics and age of the patients The results were as follows: 1. Age distribution of the diabetic patients were 17-85 years old and 6th decade was most frequent group and the percentage of male patients were 64.8% and 82.4% of total patients were over 50 years of age. 2. The postoperative corrected visual acuity above 20/40 according to patient age was 100% in the 3rd decade and 1st decade, 87.5% in the 4th decade, 73.5% in the 5th decade, 80.9% in the 6th decade and 42.8% in the 2nd decade. The postoperative visual acuity was generally better in younger patients. 3. The postoperative corrected visual acutiy above 20/40 according to degree of diabetics was 94.2% in Non Diabetic Retinopathy, 78.5% in Background Diabetic Retinopathy, 11.1% in Proliferative Diabetic Retinophthy. The postoperative corrected visual acuity was worse in severe retinopthy group. 4. The postoperative corrected visual acuity above 20/40 according to duration of diabetics was 94.2% in under 5 years, 83.9% in 10 < -15 years, 56.1% in above 15 years and the result was better in short diabetic duraction group.
Age Distribution ; Cataract* ; Diabetic Retinopathy ; Humans ; Male ; Retrospective Studies ; Visual Acuity

We have retrospectively studied 118 eyes of 91 diabetic patients which underwent cataract surgery and followed up at least 3 months and the postoperative corrected visual acuity compared according to the degree of retinopathy, duration of diabetics and age of the patients The results were as follows: 1. Age distribution of the diabetic patients were 17-85 years old and 6th decade was most frequent group and the percentage of male patients were 64.8% and 82.4% of total patients were over 50 years of age. 2. The postoperative corrected visual acuity above 20/40 according to patient age was 100% in the 3rd decade and 1st decade, 87.5% in the 4th decade, 73.5% in the 5th decade, 80.9% in the 6th decade and 42.8% in the 2nd decade. The postoperative visual acuity was generally better in younger patients. 3. The postoperative corrected visual acutiy above 20/40 according to degree of diabetics was 94.2% in Non Diabetic Retinopathy, 78.5% in Background Diabetic Retinopathy, 11.1% in Proliferative Diabetic Retinophthy. The postoperative corrected visual acuity was worse in severe retinopthy group. 4. The postoperative corrected visual acuity above 20/40 according to duration of diabetics was 94.2% in under 5 years, 83.9% in 10 < -15 years, 56.1% in above 15 years and the result was better in short diabetic duraction group.
Age Distribution ; Cataract* ; Diabetic Retinopathy ; Humans ; Male ; Retrospective Studies ; Visual Acuity

A 34-year-old female had an unusual case of cellular blue nevus which had behaved in a locally aggressive fashion. The lesion infiltrsted the adjacent soft tissue of left nail bed and extended into deep phalangeal bone. The involved left thumb was partially amputated because complete excision was impossible and we were quite concerned about malignant transformation. Histologically biphasic pattern without cellular atypism, a characteristic features of cellular blue nevus, was shown. About 2 years later, the lesion had not recurred.
Adult ; Female ; Humans ; Nevus, Blue* ; Thumb

No abstract available.
Breast Neoplasms* ; Breast*

The distribution of pemphigus subclass autoantibodies in a patient with pemphigus vulgaris (PV) has been investigated by semiquantitative indirect immunofluorescence (IIF), using the HP series monoclonal antibodies specific for four human IgG subclasses on human foreskins. IgG1 and IgG4 intercellular substance-specific autoantibodies were detected in the serum of the patient, whereas IgG2 and IgG3 autoantibodies were absent. In addition to foreskins, human tonsillar epithelia were used as substrates of IIF for detecting the PV autoantibodies and it was one of satisfactory substitutes for monkey esophagus.
Antibodies, Monoclonal ; Autoantibodies* ; Esophagus ; Fluorescent Antibody Technique, Indirect ; Foreskin ; Haplorhini ; Humans ; Immunoglobulin G* ; Pemphigus*