BACKGROUND: Recent clinial observations have suggested that colchicine, which is in frequent use in gout can affect the conneciive tissue metabolism in skin and other ti.ues. OBJECTIVE: This study suggest that further development of colchiine might provide a novel means of modulating collagen gen expression in patients with fibrotic disease. METHOD: We examed the effect of colchicine on the expres, on of collagen, fibronectin and collagenase gene by skin filroblast culture hy Nort.hern and dot-blot iybridization. Result : The rate of transcription of genomic DNA corresponding o type I collagen and libvonectin was reduced in colchicine-treated cultures but collagenase was not. reduced. Canclusion : The microti.ikile disruptive agent, colchicine, reduced the expression of type I collagen and fibronectin in a dose-(lependent manner. This st.udy suppor that colchicine is one of the promising antifibrogenic drugs curvently being tested as a treatment, of hun an fibrotic disease.
Colchicine* ; Collagen Type I ; Collagen* ; Collagenases ; DNA ; Fibroblasts ; Fibronectins ; Gene Expression* ; Gout ; Humans ; Metabolism ; Skin

PURPOSE: The purpose of this study was to evaluate clinical manifestation, etiology and prognosis of hypocalcemic infants who were admitted with seizure. METHODS: We reviewed medical records of 32 infants admitted at the Asan Medical Center with hypocalcemic seizure retrospectively. We classified patients into vitamin D deficiency group(n=7, 21.9%), transient hypoparathyroidism group(n=4, 12.5%), relative hypoparathyroidism with hyperphosphatemia group(n=16, 50%), and others(n=5, 15.6%) according to the laboratory results. RESULTS: Of the 32 patients, 29 patients were improved. There were no differences in gestational age and birth weight among the three groups. In the vitamin D deficiency group, age of onset was later than those of the transient hypoparathyroidism group and relative hypoparathyroidism with hyperphosphatemia group(51.6+/-2.7 vs 8.3+/-.5, 8.2+/-.6 days). In the age when all laboratory results were normalized, transient hypoparathyroidism group was younger than those of vitamin D deficiency group and relative hypoparathyroidism group(33.2+/-4.6 vs 93.6+/-8.5, 77.1+/-2.4 days). In the total treatment period, relative hypoparathyroidism with hyperphosphatemia group was longer than those of vitamin D deficiency group and transient hypoparathyroidism group(68.9+/-3.5 vs 42.0+/-5.0, 25.0+/-4.3 days). Others included two 22q11.2 deletion syndrome patients, a congenital hypoparathyroidism, a pseudohypoparathyroidism, and an early neonatal hypocalcemia. CONCLUSION: Transient hypoparathyroidism and hyperphosphatemia were major causes of neonatal hypocalcemia. And high calcitonin and peripheral organ resistance to parathyroid hormone act on hypocalcemia. In infants after one month, vitamin D deficiency was also an important cause of hypocalcemia. Most of the patients were improved within 1-2 months after proper management, but relative hypoparathyroidism with hyperphosphatemia group needed longer treatment. So, it is necessary to perform a systematic study for several complex causes that explain above fact.
Birth Weight ; Calcitonin ; Chungcheongnam-do ; DiGeorge Syndrome ; Gestational Age ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism ; Infant* ; Medical Records ; Parathyroid Hormone ; Prognosis ; Pseudohypoparathyroidism ; Retrospective Studies ; Seizures ; Vitamin D Deficiency

No abstract available.
Gwangju* ; Humans

BACKGROUND: Neurofibroma, the hallmark of neurofibromatosis, is a cutaneous or subcutaneous lesion, with a variable clinical presentation. Histologically, neurofibroma consists of proliferation of nerve derived cellular elements, together with an abundant, collagenous extracellular matrix. Specifically, neurofibroma has been shown to contain 30-50% collagen in its matrix. Objective 5. METHODS: We examined the expression of extracellular matrix genes (collagen, fibronectin, laminin), TGF-b mRNA and Ha-ras oncogene mRNA by using Northern and slot-blot hybridization and immunoperoxidase stains. Result: In Northern blot analysis, Ha-ras and TGF-b genes revealed respectively, 8.8kb and 2. 5kb sized mRNA transcripts in neurofibroma. These parameters were normal in the control. The expression of these genes were 1.9, 2.0 fold increased in neurofibroma. In slot-blot analysis, expression of type I collagen showed fibronectin genes to be 2,401+210, 540+43, respectively, in neurofibroma. So there were 3.7 fold, 2.1 fold, differences respectively, compared to the normal control. However, there were no significant changes of type IV collagen and laminin Bl mRNA levels between neurofibroma and normal skin tissues. Irnmunoperoxidase staining by rnonoclonal anti type IV collagen antibody in neurofibroma showed type IV collagen to be diffusely and weakly stained in tissue. On staining by monoclonal anti-laminin antibody, laminin was stained in a matrix and around vessels. CONCLUSION: The increased expression of extracellular matrix genes may suggest that there is a subpopulation of fibroic cells in neurofibroma which are stimulated by TGF-b. Ha-ras genes which might have accumulated with the differentiation of neural tissue may be related to the pathogenesis of neurofibroma tissue formation. Further studies are needed to determine whether the other factors are related to the pathogenesis of neurofibroma.
Blotting, Northern ; Collagen ; Collagen Type I ; Collagen Type IV ; Coloring Agents ; Extracellular Matrix* ; Fibronectins ; Genes, ras* ; Laminin ; Neurofibroma ; Neurofibromatoses* ; RNA, Messenger ; Skin

Lupus vulgaris is most prevalent on exposed parts, especially the face but can also develop on exetremities. Lupus vulgaris originates from tuberculosis elsewhere in the body by hematogenous, lymphatic, or contiguous spread. A 19-year-old male patient came to our department. The patient had had many recurrent oozing and verrucous plaques and crusts on the left foot for one year. A skin biopsy from the lesion on the left dorsum of the foot showed scattered well defined granulomas consisting of the epithelioid cell clusters with Langerhans and foreign body type giant cells in the mid dermis. Caseation necrosis was slight. There were no bacilli on AFB staining. The multi test CMI for tuberculin was highly positive. A chest X-ray did not show any abnormal findings. The presence of Mycobacterium tuberculosis DNA was demonstrated by polymerase chain reactions (PCR) for detection of mycobacterial DNA from a routinely prepared paraffin-embedded skin specimen. Herein we report a very atypical case of lupus vulgaris confirmed by PCR.
Biopsy ; Dermis ; DNA ; Epithelioid Cells ; Foot ; Giant Cells, Foreign-Body ; Granuloma ; Humans ; Lupus Vulgaris* ; Male ; Mycobacterium tuberculosis ; Necrosis ; Polymerase Chain Reaction ; Skin* ; Thorax ; Transplants* ; Tuberculin ; Tuberculosis ; Young Adult

No abstract available.
Nuchal Cord* ; Ultrasonography*

BACKGROUND: Methods to detect and quanitify Mycobacterium leprae(M. leprae)are needed for studies involving the epidemiology, pathogenesis, and chemotherapy of leprosy. Serological assays and skin tests lack the sensitivity and specificity to serve as diagnostic tool for M. leprae infection. The polymerase chain reaction(PCR) based on the selective amplification of an 530-bp frangment of the gene encoding the proline-rich antigen of M. leprae was performed with sections of fixed or frozen biopsy samples from leprosy patients. OBJECTIVE: This study was done to investigate the applicability of PCR for the detection of low numbers of M. leprae in tissues and peripheral blood. METHODS: The PCR was used to amplify a 530-base-pair M. leprae DNA with the thermoxtable Taq DNA polymerase. RESULTS: The In frozen skin tissues and peripheral blood of leprosy patients. relatively high detection rates of PCR products was achieved by using direct gel analysis as well as Southern blot hybridization. CONCLUSION: These results suggest that PCR amplification for the detection of M. leprae may be useful for the epidemiologic study of large papulations as well as coinical astudies on the individual patients.
Biopsy ; Blotting, Southern ; DNA ; Drug Therapy ; Epidemiologic Studies ; Epidemiology ; Humans ; Leprosy ; Mycobacterium leprae* ; Mycobacterium* ; Polymerase Chain Reaction* ; Sensitivity and Specificity ; Skin ; Skin Tests ; Taq Polymerase

Authors experienced a rare adenocarcinoma arising in presacral sacrococcygeal teratoma in a adult and herein reported. The patient was a 52 year old female admitted because of lower abdominal pain for 5 to 6 months. Past and familial history were unremarkable. On rectal examination a mass was palpated 3 cm above the anal verge. The large bowel was displaced by an extrinsic mass but there was no evidence of intrinsic tumor lesion on barium enema, CT was done and showed a large presacral tumor attached to the sacrum. Clinical impression was sacrococcygeal teratoma. Resected tumor mass was a relatively well circumscribed cystic mass, measuring 11 x 11 cm and the cystic content was previously evacuated. Inner surface showed ragged appearance, and focal nodular solid area was noted. On microscopic examination, the tumor revealed the derivatives of three germ layers and main components were tissues of respiratory tract. Sections from the solid area showed a well differentiated adenocarcinoma and with stromal, capsular and perineural invasion. Borderline malignant epithelial lesions are also noted suggesting the pathogenesis and progression of this tumor. There was no recurrence for one year after surgery in the follow up.
Adult ; Male ; Female ; Humans ; Adenocarcinoma

No abstract available.
Pregnancy, Heterotopic*

No abstract available.
Thanatophoric Dysplasia*