OBJECTIVE : To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. MATERIAL AND METHOD: The blood Sample of habitual aborter with high fasting homocysteine level was tested by PCR-RFLP method. RESULTS: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, Corresponding to Ala to Val. CONCLUSIONS: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.
Abortion, Spontaneous* ; Fasting ; Female ; Homocysteine ; Humans ; Hyperhomocysteinemia* ; Methylenetetrahydrofolate Reductase (NADPH2)* ; Pregnancy

Tumoral calcinosis is an uncommon disease, characterized by deposits of large, calcified soft tissue masses around major joints in children and young adults. The causes of the lesion have not yet been established, but are presumed an inborn error of metabolism of phosphorus. It has been recommanded medical treatment or surgical excision, but recurrence of the lesion is frequent. We report a case of young female patient who presented with tumoral calcinosis at the age of 10 years.
Calcinosis* ; Child ; Female ; Humans ; Joints ; Knee Joint* ; Knee* ; Metabolism ; Phosphorus ; Recurrence ; Young Adult

The human oral mucosa has noncornified lining epithelium, cornified masticatory epithelium, and complex epithelium. The epithelium of human tongue shows diverse morphological variations from one site to another, and conflicting reports exist in the literature concerning the type of lingual epithelium. Cytokeratin[CK] have been shown to characterize different type of epithelia. In the present study to clarify intermediate filament patterns of tongue mucosa and lingual gland in human fetus from second trimester of pregnancy and adult, cytokeratin expression was investigated immunohistochemically using antibodies for cytokeratins in the dorsal surface of tongue, taste bud, and lingual gland, and comparison with the expression between fetus and adult was made. The epithelium of the fetal lingual papillae consisted of 4 to 6 layered stratified cells, and that of the inferior surface of tongue consisted of 6-8 layered stratified cells in PAS-hematoxylin stain. The lingual gland was well differentiated and the alveolus was strongly positive to PAS reaction. The dorsal surface of the adult tongue was composed of lingual papillae. The papillae was covered by keratinized stratified squamous epithelium and interpapillary area by nokeratinized epithelium in hematoxylin-eosin stain. The taste bud was present in the fungiform papilla. The lingual gland appeared among the muscle layers near the inferior surtace and was composed of mucous and serous cells. By immunohistochemical stain, the epithelium of the lingual papillae exhibited various staining-intensities for cytokeratin antibodies, and showed same staining patterns bosh epithelium in tip of papilla and interpapillary area in fetus. However, the dorsal epithelium of the adult tongue showed different staining patterns between tip of the papilla and interpapillary area. In fetal lingual papilla CK7 and CK8 were expressed in superficial cells, AE8 in intermediate and superficial cells, CKl4 in basal cells. MNFI116 and AE3 showed a strong reaction in basal and suprabasal cells. The epithelium of the inferior lingual surface reacted positively with AE8 and CK14, MNF116, and AE3. CK7 and CK8, however, were not reacted. In adult lingual papilla CK10 was expressed in superficial cells of the tip of the papilla, AE8 in suprabasal cells of interpapillary epithelium, CKl4 in basal cells of papillary and interpapillary epithelium, CKl9 in superficial cells of interpapillary epithelium, MNFI116 and AE3 in suprabasal cells of papillary and interpapillary epithelium. However, CK7, CK8, CK18, and 5D3 were not expressed in the epithelium of the dorsal tongue. The cells of taste bud in fetus showed positive reactions for CK7, CK8, MNF116, and AE3, but negative reactions with CK10 and AE8. The cells of taste bud in adult were stained with CK7, CK8, CK18, and MNF116, but not stained with CK10 and AE8. In lingual gland of fetus, CK7, CK8, CKl8, 5D3, MNF116, and AE3 were expressed in alveolar cells. Only CK10 gave a negative staining in ductal cells. The mucous cells of the adult lingual gland were reacted with CK7, CK10, CK18, CK19, and MNF116, and the serous cell with CK7, CK19, and MNF116. The ductal cells of the adult lingual gland were stained with CK7, AE8, CK18, CKl9, 5D3, MNF116, and AE3. CK14 was expressed in the cells of intralubular ductule, not in the ductal cells. By electron microscopy, the epithelia of both dorsal and inferior lingual surfaces in fetus consisted of nonkeratinized stratified squamous epithelium. A cell with clear cytoplasm and some dense granules was noted among the basal cells. These results indicate that the epithelium of fetal lingual papillae is non-keratinized type and the epithelium of the papillary tip is keratinized type and interpapillary epithelium is nonkeratinized type in adult, and suggest that the superficial cell containing cytokeratins 7 and 8 in dorsal lingual epithelium of fetus has a similar role to the periderm of fatal skin.
Adult ; Antibodies ; Cytoplasm ; Epithelium* ; Female ; Fetus* ; Humans* ; Immunohistochemistry ; Intermediate Filaments ; Keratins ; Microscopy, Electron ; Mouth Mucosa ; Mucous Membrane ; Negative Staining ; Periodic Acid-Schiff Reaction ; Pregnancy ; Pregnancy Trimester, Second ; Skin ; Taste Buds ; Tongue

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.
Case Report ; Collagen/metabolism ; Epidermolysis Bullosa Simplex/pathology ; Epidermolysis Bullosa Simplex/metabolism ; Epidermolysis Bullosa Simplex/complications* ; Human ; Infant, Newborn ; Male ; Pylorus*/radiography ; Stomach Diseases/radiography ; Stomach Diseases/complications* ; Urologic Diseases/congenital* ; Urologic Diseases/complications*

Acute appendicitis in children under the age of 12 has remained the surgical emergency condition with the highest percentage of misdiagnosis leading to removal of a normal appendix. From January 1994 to April 1997, 312 children (176 boys, 136 girls) were admitted to Jun-ang Gil Hospital with the impression of acute appendicitis. The average age was 8.6 years (2 to 12 years). We reviewed medical records retrospectively for demographics, presenting signs, symptoms, findings of abdominal ultrasonography (USG) and barium enemas, and surgical results. The patients were divided in 2 groups as follows: group I (n=144) received immediate operations without further evaluation, group II (n=168) was treated after a delay for observation and/or special studies (USG and/or barium enema). Group II was subdivided into Group IIa (n=119) (treatment after study) and Group IIb (n=49)(treatment by clinical observations only). In group I, 124 patients were confirmed intraoperatively as having acute appendicitis, and 20 cases were not. In IIa, 36 patients underwent exploratory surgery and 30 cases revealed acute appendicitis. The remaining 83 patients were discharged because of symptomatic relief. In group IIb, 43 patients underwent exploratory surgery and acute appendicitis was revealed in 35. The diagnostic accuracies of groups were 86%, 95% and 84%. The sensitivity, specificity and diagnostic accuracy of an abdominal ultrasonography (n=105) were 96.1%, 82.1% and 92.4%, respectively. Those of a barium enema (n=63) were 94.7%, 100%, and 95.2% respectively. When both modalities were used (n=49), the results were 95.6%, 100% and 95.9%, respectively. The frequencies of a perforated appendicitis had no difference among the groups. In conclusion, in a child suspected of having acute appendicitis, if there are no apparent toxic signs or panperitonitis, surgical observation, USG, and/or a barium enema can decrease the number of unnecessary appendectomy without increasing the risk of perforation.
Appendectomy ; Appendicitis* ; Appendix ; Barium ; Child* ; Demography ; Diagnostic Errors ; Emergencies ; Enema ; Humans ; Medical Records ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography

Delayed eruption disorders caused by systemic or local conditions are mostly found during childhood and can be treated with orthodontic forced eruption. When the disorder is not found nor treated during childhood, however, orthodontic eruption might become a difficult option while prosthodontic restoration can be considered as an another option. Considerations for the prosthodontic treatment plan include the extent of tooth loss, interdental mesio-distal space and interarch space, and age of the patient. In this case report, oral rehabilitation of the patient with delayed eruption disorder through zirconia partial fixed prostheses for both maxilla and mandible was performed.
Humans ; Mandible ; Maxilla ; Orthodontic Extrusion ; Prostheses and Implants ; Rehabilitation ; Tooth Loss

No abstract available.
Mortality*

No abstract available.
Female ; Glaucoma, Angle-Closure/complications/surgery ; Humans ; Middle Aged ; Optic Neuropathy, Ischemic/complications/*diagnosis

No abstract available.
Female ; Glaucoma, Angle-Closure/complications/surgery ; Humans ; Middle Aged ; Optic Neuropathy, Ischemic/complications/*diagnosis

Dendritic myxofibrolipoma is a recently described disease entity that represents a distinctive benign soft tissue neoplasm showing the combined features of spindle cell lipoma and the solitary fibrous tumor. Immunohistochemical stains reveal a strong positivity for vimentin, CD34 and bcl-2, which highlight the dendritic nature of the tumor cells by demonstrating slender complex cytoplasmic prolongations. There have been 12 cases of dendritic myxofibrolipomas reported in literature. In Korea, none of the cases have been described. We report such a case with a 28-year-old man who had a palpable subcutaneous mass on his right shoulder for 4 months. Grossly, the removed mass measured 11X7X5 cm and appeared to be a well-encapsulated, lipomatous tumor with marked myxoid appearance. Microscopically, this tumor consisted of spindle cells admixed with dense collagen fibers and mature adipocytes in abundant myxoid stroma with high vascularity. Immunohistochemically, the tumor cells were strongly reactive for vimentin and CD34 and weakly reactive for bcl-2, and negative for S-100 protein.
Adipocytes ; Adult ; Collagen ; Coloring Agents ; Cytoplasm ; Fibroma ; Humans ; Korea ; Lipoma ; S100 Proteins ; Shoulder ; Soft Tissue Neoplasms ; Solitary Fibrous Tumors ; Vimentin