No abstract available.
Humans*

Occult meningocele is a cystic type of spinal dysraphism derived from developmental fusion defect during early fetal life. It is well known its common, but remarkably less than of myelomeningocele in incidence, combinations with other anormalies. A 11-year-old boy suffering from waddling gait and equinovarus foot deformity for 6 years, is presented. He has not any external protruded mass, hypertrichosis or abnormal pigmentation around his low back. He also has no evidence of neurofibromatosis or enlarged head. Pain spinal films show widening of intervertebral foramina and interpedicular distance, and spina bifida. With myelography using 90ml of Pantopaque, huge ectatic sac accompanying with multiple outpocketings of meninges like stocked tail is well demonstrated. Neurosurgical operation was not indicated. Operation for the correction of the foot deformity were performed by orthopedician.
Child ; Clubfoot ; Foot Deformities ; Gait ; Head ; Humans ; Hypertrichosis ; Incidence ; Iophendylate ; Male ; Meninges ; Meningocele* ; Meningomyelocele ; Myelography ; Neurofibromatoses ; Pigmentation ; Spinal Dysraphism ; Spine*

Occult meningocele is a cystic type of spinal dysraphism derived from developmental fusion defect during early fetal life. It is well known its common, but remarkably less than of myelomeningocele in incidence, combinations with other anormalies. A 11-year-old boy suffering from waddling gait and equinovarus foot deformity for 6 years, is presented. He has not any external protruded mass, hypertrichosis or abnormal pigmentation around his low back. He also has no evidence of neurofibromatosis or enlarged head. Pain spinal films show widening of intervertebral foramina and interpedicular distance, and spina bifida. With myelography using 90ml of Pantopaque, huge ectatic sac accompanying with multiple outpocketings of meninges like stocked tail is well demonstrated. Neurosurgical operation was not indicated. Operation for the correction of the foot deformity were performed by orthopedician.
Child ; Clubfoot ; Foot Deformities ; Gait ; Head ; Humans ; Hypertrichosis ; Incidence ; Iophendylate ; Male ; Meninges ; Meningocele* ; Meningomyelocele ; Myelography ; Neurofibromatoses ; Pigmentation ; Spinal Dysraphism ; Spine*

Glomus tumor is a kind of vascular tumor that arises from the glomus body, which regulates skin temperature and is placed in the skin and the subcutaneous area. It is a benign tumor that usually presents in the subungal area. It is relatively common in areas other than the fingers, but its occurrence in peripheral nerves is known to be comparatively rare. We report our experience with a case of glomus tumor arising from the brachial plexus, a rare site of occurrence for glomus tumors.
Brachial Plexus ; Fingers ; Glomus Tumor ; Peripheral Nerves ; Skin ; Skin Temperature

No abstract available.
Antigen-Antibody Complex* ; Humans ; Interleukin-2* ; Ovarian Neoplasms*

No abstract available.
Orthopedics*

The gene ftsH encodes a membrane-bound and ATP-dependent protease that is involved in a variety of cellular functions including heat-shock and stress response. Streptococcus pneumoniae DNA encompassing most part of the ftsH gene was cloned in Escherichia coli and sequenced. Due to the unsuccessful cloning as seen in other pneumococcal promoters, the 5'-end of the gene including the upstream promoter region was amplified by inverse polymerase chain reaction and then sequenced by cyclic sequencing. The amino acid sequence that is deduced from the 1,959 bp-long ftsH gene is very similar to FtsH of several gram-positive bacteria and E. coli within the region responsible for the AAA (ATPase associated with diverse cellular activities) function. Except for the N-terminal domain that contains a short extracellular region between two mernbrane-spanning segments, pneumococcal FtsH shows striking sequence similarity to that of a closely related species Lactococcus lactis within the conserved cytoplasmic domain where two ATP-binding motifs, the AAA Signature motif, and a zinc-binding motif are found.
Amino Acid Sequence ; ATP-Dependent Proteases ; Base Sequence* ; Clone Cells* ; Cloning, Organism* ; Cytoplasm ; DNA ; Escherichia coli ; Gram-Positive Bacteria ; Lactococcus lactis ; Polymerase Chain Reaction ; Promoter Regions, Genetic ; Streptococcus pneumoniae* ; Streptococcus* ; Strikes, Employee

Primary biliary cirrhosis is frequently associated with a variety of disorders presumed to be autoimmune in nature, such as Sjogrens syndrome, scleroderma, rheumatoid arthritis, systemic lupus erythematosus, and autoimmune thyroiditis. Scleroderma has been recognized in association with primary biliary cirrhosis. Most cases present as the CREST (calcinosis cutis, Raynauds phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome. Isolated pulmonary hypertension develops in a small proportion of patients, nearly all of whom have limited cutaneous involvement. We report a case who has diffuse scleroderma associated with primary biliary cirrhosis and isolated pulmonary hypertension.
Arthritis, Rheumatoid ; Esophageal Motility Disorders ; Humans ; Hypertension, Pulmonary* ; Liver Cirrhosis, Biliary* ; Lupus Erythematosus, Systemic ; Scleroderma, Diffuse* ; Sjogren's Syndrome ; Thyroiditis, Autoimmune

PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep (mono or diphasic centrotemporal spikes) and awake state (background slowing). In this study, we analyzed the clinical characteristics of fragile X syndrome patients and observed whether a particular EEG pattern is associated with this syndrome or not. METHODS: 7 cases of fragile X syndrome, diagnosed at Sowha Children's Hospital and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively in terms of typical phenotypes and clinical & EEG characteristics. The patients were diagnosed by Southern blotting and polymerase chain reaction (PCR) method. RESULTS: 1) The subjects were all male and the mean age was 5.8 years old (2Y-11Y). 2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large head are noted in 2/3 of the subject. 3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism are noted in 2/3 of the subject. 4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the presence of seizures. Abnormal findings including centrotemporal sharps and background slowing are noted in one case, each. 5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of affected male and 4 of normal transmitting male were diagnosed. CONCLUSIONS: 1) The typical phenotype of fragile X syndrome is long elongated face, macro-orchidism, large ears and large head. 2) The non-physical characteristics of fragile X syndrome are developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism. 3) The characteristic EEG findings of fragile X syndrome known by literature are noted in 2 among 6 cases, which means the specificity is high even though the sensitivity is low. This allows us to propose this EEG pattern as an important "marker" in the diagnosis of fragile X syndrome. However, the number of the subject is too small to conclude now. Further accumulation of cases is reguired.
Autistic Disorder ; Blotting, Southern ; Diagnosis ; Ear ; Electroencephalography* ; Fragile X Syndrome* ; Head ; Hospitals, General ; Humans ; Intellectual Disability ; Learning Disorders ; Male ; Pathology, Molecular ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Seizures ; Sensitivity and Specificity

BACKGROUND: Vitiligo is considered as an autoimmune disorder due to the generation and presence of autoantibodies directed against melanocyte antigens in the patients sera. Previous studies have revealed an increased incidence of organ-specific autoantibodies in vitiligo patients. A number of studies have demonstrated an increased frequency of thyroid autoantibodies in vitiligo patients and vitiligo is commonly seen in patients with clinical thyroid diseases. OBJECTIVE: The aim of this study is to investigate the incidence of antithyroid antibodies in vitiligo patients and to correlate the presence of these antibodies with factors such as sex, age, activity of the disease, duration of the disease and the type of vitiligo. Another aim of this study is to compare the incidence of abnormal thyroid function in those who have antithyroid antibody and those who don't. METHODS: One hundred and fifty seven vitiligo patients who visited vitiligo clinic in Samsung medical center from January of 1995 to November of 1996 were enrolled in this study. Detection and titration of antithyroid antibodies were performed by immunoradiometric assay. RESULTS: Among 157 patients tested, 17(10.8%) patients had antithyroglobulin antibodies and 10(6.4%) patients had antimicrosomal antibodies. Five patients had both antibodies. Statistically meaningful data are as follows; 1) Antimicrosomal antibody appeared less frequently in patients of childhood-onset. 2) Antithyroglobulin antibody was detected more frequently in active disease. Fifty nine out of 157 patients were examined for thyroid function. Four out of 22 patients with antithyroid antibody had abnormal thyroid function. None out of 37 patients without antithyroid antibody had abnormal thyroid function. CONCLUSION: The incidence of antithyroid antibodies according to onset age and activity is contradictory to previous reports, therefore large scaled study will be necessary to draw a conclusion.
Age of Onset ; Antibodies* ; Autoantibodies ; Humans ; Immunoradiometric Assay ; Incidence* ; Melanocytes ; Thyroid Diseases ; Thyroid Gland ; Vitiligo*