The ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome is a rare autosomal dominant disease which has multiple congenital anomalies characterized by ectodermal dysplasia, distal limb anomaly, cleft lip and palate, and lacrimal duct anomalies. There is wide variability of clinical expression of this syndrome, and occasional nonpenetrance. We report a 1 year old girl with typical EEC syndrome manifestations, who presented dry skin, light colored sparse hair on scalp, cleft lip and palate, microdontia with oligodontia, partial syndactyly of the hands, total syndactyly of the feet and mild developmental delay, including ocular defects and skin lesions. Ocular MRI showed microphthalmia with cystic mass on both eye globes and atrophy of the optic nerves. Vesicle like skin lesions were consistent with nevus lipomatosus cutaneous superficialis by pathologic study.
Atrophy ; Cleft Lip ; Ectodermal Dysplasia ; European Union ; Extremities ; Female ; Foot ; Hair ; Hand ; Humans ; Magnetic Resonance Imaging ; Microphthalmos ; Nevus* ; Optic Nerve ; Palate ; Scalp ; Skin ; Syndactyly

This investigation evaluated patients who received Steri-Oss implants from the Dental Hospital of Chosun University during the period from March 1989 to August 1997. 346 fixtures of 127 patients were included in this study . The results were as follows ; 1.The follow-up period was defined as the period between the surgical placement of the implants and the last follow-up examination. The mean follow-up period was 2.17+/-1.21 years. 2.The period between fixture installation and second surgery was 0.71+/-0.44 years in the maxilla and 0.46+/-0.21 years in the mandible. 3.The number of fixtures which were installed in the upper jaw(112) was less than that in the lower jaw(234) and in the posterior region(260) was more than in the anterior region(86). 4.The length of fixture which was most frequently used was 12 mm and least was 8mm. Screw implants were installed more than cylindrical implants. 3.8mm implant was the most common implans, followed by 4.5mm and 3.25mm. 5.The number of augmentation cases was more than that of non-augmentation cases and the rate of augmentation cases in the maxilla was more than that in the mandible. 6.Implant restorations for partial edentulos patients(94cases) were more than single-tooth implant restorations(33cases) or implant restorations for complete edentulos patients(10cases). 7.Free-standing prostheses for partially edentulous patients were more commom than any other type of connection between implants and natural teeth. 8.Plaque Index(0.95+/-0.74) and Gingival Index(0.31+/-0.52) were very similar around the natural teeth and reflected an acceptable level of plaque and gingivitis control. Mean value for keratinized mucosa index(1.93+/-1.20) remained fairly constant around level 2(1-2 mm keratinized epithelium). 9.Patients were generally satisfied with implant in terms of comfort, function, speech and esthetics. 10.There was not a statistically significant differences in overall survial rate between implants placed in the maxilla (91.5%) and those placed in the mandible (93.8%). Fourteen implants lost before the prosthetic rehabilitation and eleven implants lost following variable periods in function after the prosthetic phase of the treatment. 11.Cause of implant failures was exfoliation or removal of fixture due to non-osseointegration before the prosthetic rehabilitation or due to fracture of fixture, masticatory pain after the prosthetic rehabilitation. 12.The survival rate of Steri-Oss implants using the Kaplan-Meier statistical analysis was 93.8% at 2 year and 86.6% at 5 year. In all cases, implant losses occured predominantly in the healing period. There was a steep decline in the rate of implant loss after the first year. 13.The survival rate of Steri-Oss implants in the anterior region was 94.8% at 2 year and 94.8% at 5 year and that in the posterior region was 92.8% at 2 year and 75.9% at 5 year. In conclusion, this study revealed a number of parameters and guidelines for achieving an optimal success rate in osseointegration.
Dental Implants, Single-Tooth ; Esthetics ; Follow-Up Studies ; Gingivitis ; Humans ; Mandible ; Maxilla ; Mucous Membrane ; Osseointegration ; Prostheses and Implants ; Rehabilitation ; Survival Rate ; Tooth

No abstract available.
Cervix Uteri* ; Female ; Health Expenditures*

BACKGROUND: There is considerable controversy about the exact molecular mechanisms of excitatory amino acid receptors in epileptogenesis. METHODS: We used in situ hybridization to examine the hybridization density (HD) of n-methyl- D-aspartic acid receptor type 1 (NMDAR-1) and alpha-amino-3-hydroxy -5-methyl-4-isoxazole-propionate (AMPA) receptor type 2 (GluR-2) mRNA, in the hippocampus obtained from the kainic acid (KA)-induced status epilep-ticus (SE) model. Some Sprague-Dawley rats were injected with KA (10 mg/Kg; I.p.), and others with MK-801 (4 mg/kg) 20 minutes prior to KA. The rats were allowed to have 4-hour SE and were killed at 8 hours or 4 weeks after KA or MK-801/KA injection. HD of NMDAR-1 and GluR-2 mRNA in subfields of the hippocampus was measured by an image analysis system. RESULTS: A typical neuropathological finding of hippocampal sclerosis and spontaneous repetitive seizures (SRS) were observed in the KA injected rats, but not in the MK-801 pretreated rats, killed at 4 weeks. Compared with controls, the rats killed at 8 hours after KA showed increased CA1, CA2, and CA3 NMDAR-1 HD, and stratum granulosum (SG) GluR-2 HD. The increase of NMDAR-1, not GluR-2, HD was blocked effectively by MK-801. The increase of SG GluR-2 HD remained until 4 weeks after the KA injection. CONCLUSIONS: Not only the NMDAR-1activa-tionbut also the GluR-2 activation is an important factor in delaying hippocampal neuronal loss and epileptogenesis. (J Korean Neurol Assoc 19(1):36~44, 2001
alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid ; Animals ; D-Aspartic Acid ; Dizocilpine Maleate ; Epilepsy, Temporal Lobe ; Gene Expression* ; Glutamic Acid* ; Hippocampus ; In Situ Hybridization ; Kainic Acid ; N-Methylaspartate ; Neurons ; Rats ; Rats, Sprague-Dawley ; Receptors, Glutamate* ; RNA, Messenger ; Sclerosis ; Seizures ; Temporal Lobe*

A central question to the pathogenesis of leprosy is how Mycobacterium leprae, the causative agent of leprosy, survives and replicates within macrophages. 18-kDa protein of M. leprae, a major antigen, is found in solely M.leprae and contains T-cell antigenic epitopes and has been implicated in survival of M. leprae within macrophages and ultimately in pathogenesis. The latter is supported further by a recent finding that 18-kDa gene is activated during intracellular growth. To further understand M. leprae-specific 18-kDa gene expression regulation mechanism during intracellular growth, the present studies have been undertaken. To examine the presence of a regulatory sequence(s) in the promoter of 18-kDa gene and its binding factor(s) in M. leprae cell lysate, a gel mobility shift assay was performed. A 350-bp sequence containing the promoter of 18-kDa gene resulted in a protein-DNA complex formation with increasing amounts of M. leprae crude lysate. However, the protein-DNA complex formation was not detected in the presence of a nonspecific carrier, salmon sperm DNA.
DNA ; Electrophoretic Mobility Shift Assay ; Epitopes ; Gene Expression Regulation ; Leprosy ; Macrophages ; Mycobacterium leprae ; Salmon ; Spermatozoa ; T-Lymphocytes

A central question to the pathogenesis of leprosy is how Mycobacterium leprae, the causative agent of leprosy, survives and replicates within macrophages. 18-kDa protein of M. leprae, a major antigen, is found in solely M.leprae and contains T-cell antigenic epitopes and has been implicated in survival of M. leprae within macrophages and ultimately in pathogenesis. The latter is supported further by a recent finding that 18-kDa gene is activated during intracellular growth. To further understand M. leprae-specific 18-kDa gene expression regulation mechanism during intracellular growth, the present studies have been undertaken. To examine the presence of a regulatory sequence(s) in the promoter of 18-kDa gene and its binding factor(s) in M. leprae cell lysate, a gel mobility shift assay was performed. A 350-bp sequence containing the promoter of 18-kDa gene resulted in a protein-DNA complex formation with increasing amounts of M. leprae crude lysate. However, the protein-DNA complex formation was not detected in the presence of a nonspecific carrier, salmon sperm DNA.
DNA ; Electrophoretic Mobility Shift Assay ; Epitopes ; Gene Expression Regulation ; Leprosy ; Macrophages ; Mycobacterium leprae ; Salmon ; Spermatozoa ; T-Lymphocytes

The Changes of soluble Fas levels in Patients with Autoimmune Thyroid Diseases BACKGROUD: Apoptosis was observed in thyroid tissue from Hashimoto disease but not those from Graves disease. Recently Fas and Fas ligand interactions among thyrocytes were suggested to development of clinical hypothyroidism in Hashimoto disease.Soluble Fas produced as the form lacking the tranmembrane domain due to alternative splicing, is supposed to inhibit Fas-Fas ligand interaction and blocks Fas mediated apoptosis. METHODS: In tbis study, we measured serum soluble Fas to determine the possible involvement of this molecule in the autoimmune thyroid disease by enzyme linked immunosorbant assay in 29 patients with Graves disease, 30 patients with Hashimotos disease and 19 normal controls. RESULTS: Compared with normal subjeets (4.26 +/- 1.00 U/mL), soluble Fas was not increased in patients with Graves disease (4.23 +/- 1.14 U/mL, p>0.05) but it was increased in throtoxic Graves patients (4.70 +/- 1.26 U/mL, p<0.05) compared to euthyroid Graves (3.72 +/- 0.73 U/mL, p<0.05) and normal subjects (4.26 +/- 1.00 U/mL, p<0.05). The euthyroid and hypothyroid patients with Hashimoto disease showed low soluble Fas levels, 2.94 +/- 0.54 U/mL and 2.74 U/mL, respectively compare to the patients with Graves disease and normal subjects. The thyroid hormone levels to (T3 T4 and free T4) showed positive correlation with the serum titers of antithyroid autoantibodies, antithyroglobuin antibodies, antiperoxidase antibodies and thyrotropin binding inhibitor immunoglobulins. CONCLUSION: We found that the patients with thyrotoxic Graves disease had increased level of serum soluble Fas and the patients with Hashimoto disease showed low levels of soluble Fas compared to normal controls. Increased soluble Fas in Graves disease suggests increased expression of alternatively spliced Fas mRNA variant and decreased soluble Fas in Hashimoto disease suggests decreased Fas mRNA variant and increased full length membrane Fas, so these findings are related to the promotion of apoptosis of thyroid cells during autoimmune reaction in Hashimotos disease.
Alternative Splicing ; Antibodies ; Apoptosis ; Autoantibodies ; Fas Ligand Protein ; Graves Disease ; Hashimoto Disease ; Humans ; Hypothyroidism ; Immunoglobulins ; Membranes ; RNA, Messenger ; Thyroid Diseases* ; Thyroid Gland* ; Thyrotropin

BACKGROUND: Breast lesions in children and adolescents are rare and develop mainly in females. The management of breast masses in children and adolescents can be a perplexing problem for pediatricians and surgeons. It is well documented that breast lesions in females under 20 years of age rarely represent malignant disease. However, they frequently are a source of discomfort and anxiety for the patient, particularly when they do not resolve spontaneously. METHODS: To determine the frequency of different breast masses in females under 20 years of age on whom surgery was performed, we carried out a retrospective study of females under 20 years who were admitted to the Department. of Surgery of Soonchunhyang University Hospital for surgery between 1993 and 1995. RESULTS: The mean age was 17.9 years. A total of 44 surgical procedures were performed in 40 patients. The masses ranged in size from 0.8 cm through 7.0 cm. As to the location, the mass was in the right breast of 22 patients (50%) and in the left breast of 22 (50%). The most common location of the mass was in the right upper outer quadrant (13 patients, 29.5%). Of the 44 masses, fine-needle aspiration cytology was performed in 33 masses. Of them, 28 were fibroadenomas, 4 were fibrocystic disease, and 1 was a lipoma. Excisional biopsy was performed on 44 masses. Of them, 33 were fibroadenomas, 4 were fibrocystic disease, 5 was fibroadenoma and fibrocystic disease, 1 was a lipoma, and 1 was a lymphangioma. There were no malignancies. CONCLUSIONS: In female patients under 20 years of age, we suggest that benign breast should be studied for diagnosis, treatment, and histological feature.
Adolescent ; Anxiety ; Biopsy ; Biopsy, Fine-Needle ; Breast* ; Child ; Diagnosis ; Female* ; Fibroadenoma ; Humans ; Lipoma ; Lymphangioma ; Retrospective Studies

Although it is known that hypothyroidism can cause cardiac dysfunction, it is very hard to find a case report on sudden death due to hypothyroidism. There are only two reported cases on medline; one is about a 15-year-old girl who died suddenly of Hashimoto's thyroiditis and the other is about a 31-year-old man who also died suddenly of hypothyroidism associated with chronic lymphocytic thyroiditis. Recently we found a young woman who unexpectedly died while she was sleeping. She was diagnosed as hypothyroidism when she went to hospital about a month before she died. At autopsy there were roughly four abnormal findings; Hashimoto's thyroiditis, mild chronic active hepatitis, diverticulosis and accessory spleen. Trace of chlorpheniramine was detected in gastric remains and blood alcohol level was 0.37 percent. To our knowledge, this is the first case reporting sudden and unexpected natural death associated with hypothyroidism in Korea.
Adolescent ; Adult ; Autopsy ; Chlorpheniramine ; Death, Sudden* ; Diverticulum ; Female ; Hashimoto Disease ; Hepatitis, Chronic ; Humans ; Hypothyroidism* ; Korea ; Spleen ; Thyroid Gland ; Thyroiditis

Although it is known that hypothyroidism can cause cardiac dysfunction, it is very hard to find a case report on sudden death due to hypothyroidism. There are only two reported cases on medline; one is about a 15-year-old girl who died suddenly of Hashimoto's thyroiditis and the other is about a 31-year-old man who also died suddenly of hypothyroidism associated with chronic lymphocytic thyroiditis. Recently we found a young woman who unexpectedly died while she was sleeping. She was diagnosed as hypothyroidism when she went to hospital about a month before she died. At autopsy there were roughly four abnormal findings; Hashimoto's thyroiditis, mild chronic active hepatitis, diverticulosis and accessory spleen. Trace of chlorpheniramine was detected in gastric remains and blood alcohol level was 0.37 percent. To our knowledge, this is the first case reporting sudden and unexpected natural death associated with hypothyroidism in Korea.
Adolescent ; Adult ; Autopsy ; Chlorpheniramine ; Death, Sudden* ; Diverticulum ; Female ; Hashimoto Disease ; Hepatitis, Chronic ; Humans ; Hypothyroidism* ; Korea ; Spleen ; Thyroid Gland ; Thyroiditis