No abstract available.
Funnel Chest*

PURPOSE: Differential diagnosis of solitary pulmonary nodule with cavity includes lung abscess, tuberculoma, bronchogenic carcinoma, metastasis and trauma, etc. We analyzed the CT appearance of tubercuioma presenting as a solitary pulmonary nodule with cavity and describe the findings which suggest tuberculoma in the differential dignosis of soliary pulmonary nodule with cavity. MATERIALS AND METHODS: 25 patients with solitary pulmonary nodule(diameter less than 4 cm) without surrounding parenchymal consolidation on chest radiograph, who had a cavity within the nodule on CT, were included in our study. Density of the nodule, maximal wall thickness, the character of inner and outer wall margin, location of cavity within the nodule, location of the nodule, presence or absence of satellite lesions and calcification were analyzed. RESULTS: Solitary tuberculoma with cavity showed maximal wall thickness more than 15 mm in 40%(10/25) and 5-14 mm in 56%(14/25), eccentric cavitation in 84%(21/25) and concentric cavitation in 16%(4/25), spiculated outer wall margin in 56%(14/15) and Iobulated margin in 32%(8/25), smooth inner wall margin in 60%(15/25) and nodular margin in 40%(10/25). CT density of the cavity wall compared with the chest wall muscle was low in 84%(21/25) and isodense in 16%(4/25). Accompanying satellite lesions were seen in 84% (21/25) and calcification was visible in 28%(7/25). CONCLUSION: The CT findings of solitary tuberculoma with cavity are relative peripheral location, eccentric cavitation, finely spiculated outer wall margin, and mean maximal wall thickness of 13.2 mm, which are also the common features of malignant nodule. However, relative low density of the nodule compared to the chest wall muscle and surrounding satellite lesions can be additional clues favoring solitary tuberculoma with cavity on CT.
Carcinoma, Bronchogenic ; Diagnosis, Differential ; Humans ; Lung Abscess ; Neoplasm Metastasis ; Radiography, Thoracic ; Solitary Pulmonary Nodule ; Thoracic Wall ; Tuberculoma*

PURPOSE: The prevalence of developmental delay is 5-10% of the total pediatric population and early diagnosis and proper intervention are essential but a challenge for clinicians. We performed this study for several purposes. First is to know the distribution & characteristics of developmental disorders in Korea. Second is to identify all possible causes of these disorders through a multidisciplinary diagnostic approach, and thus to find out the clinical variables that are helpful in finding the etiology. And finally to develop a useful protocol that eliminates the cost of unnecessary tests and raises the diagnostic rate of the cause. METHODS: 518 patients(M 349, F 169) were studied who visited Ilsan Hospital Developmental Disorder Clinic(DDC) for the evaluation of developmental delay from April 2001 to Jan 2005. RESULTS: The mean age was 51.5+/-32.9 months, ranging from 2 months to 16.0 years of age with a majority of the preschool children(<6 yr)(79.3%). Phenomenological diagnosis consisted of 133 cases of mental retardation, 122 cases of autistic disorders, 101 cases of delayed language disorders, 27 cases of cerebral palsies, and 91 cases labeled as simple developmental delay requiring follow up due to age less than 2 years of age. Etiologic diagnosis was obtained in 119 cases(22.9%) out the 518 cases of developmental delays. 37 cases of chromosomal anomalies, 23 cases of Periventricular leukomalacia and hypoxic ischemic encephalopathy, 21 cases of syndromes, 7 cases of malformation of cortical development, 4 cases of myopathies, 4 cases of neuropathies, and 4 cases of cerebral infarctions were found. Among the clinical variables, low birth weight, facial dysmorphism, hypotonia, focal neurologic signs, and abnormalities in MRI, chromosome, EEG and EMG studies contributed to the yields of etiologic diagnosis significantly. CONCLUSION: Possible etiology was determined in about 23% of the subjects. The most important part of the assessment for the identification of etiology is thorough history taking, physical and neurologic examination. Neuroimaging study is useful in case of micro or macrocephaly, focal neurologic signs. Genetic studies increasingly produce a yield, when there is family history of inherited disorder and there are dysmorphic features. Routine metabolic screening test has limited utility. Development of a useful screening protocol adequate for Korean situation is required.
Cerebral Infarction ; Diagnosis ; Early Diagnosis ; Electroencephalography ; Follow-Up Studies ; Humans ; Hypoxia-Ischemia, Brain ; Infant, Low Birth Weight ; Infant, Newborn ; Intellectual Disability ; Korea ; Language Disorders ; Leukomalacia, Periventricular ; Macrocephaly ; Magnetic Resonance Imaging ; Mass Screening ; Muscle Hypotonia ; Muscular Diseases ; Neuroimaging ; Neurologic Examination ; Neurologic Manifestations ; Paralysis ; Prevalence

The association of gastric tubular adenoma and adenocarcinoma is already well known. Then, are those two pathologic lesions merely incidentally coexisting or does the one evolve to the other? That is a longstanding controversy. Nowadays, as is the case with the colonic tubular adenoma, the hypothesis that gastric tubular adenoma may be a precancerous lesion is generally accepted. However the direct evidences are rare. We report a clear case proving the potential of direct malignant transformation of gastric tubular adenorna through the 9-year close endoscopic follow-up. The developed cancer is well differentiated, surrounded with background tubular adenoma and limited to the submucosal layer.
Adenocarcinoma ; Adenoma* ; Colon ; Follow-Up Studies*

BACKGROUND/AIMS: Chronic hepatitis C virus (HCV) infection is often associated with extrahepatic autoimmune disease, and autoantibodies such as anti-nuclear antibody (ANA) or anti-smooth muscle antibody (ASA). The presence of autoantibodies may make discrimination between chronic hepatitis C with autoimmune features and type 1 autoimmune hepatitis difficult. We studied the prevalence of autoantibodies in patients with chronic HCV infection and their clinical significance. MATERIALS AND METHODS: ANA, ASA, anti-mitochondrial antibody (AMA), anti-microsomal antibody (AmA), rheumatoid factor (RF), anti-cardiolipin antibody (aCL) and lupus anti-coagulant (LA) were tested in 116 patients (80 chronic hepatitis C, 36 liver cirrhosis). Genotypes of HCV were determined in 25 patients by INNO LiPA. RESULTS: The overall prevalence of autoantibody was 65.5%. The most common autoantibody was aCL (34.5%), followed by ANA (25%), RF (18%), LA (15.5%), ASA (6.9%), anti-microsomal antibody (6%) and AMA (1%). The positive rate of either ANA or ASA was 30.2%, but both were positive in 1.7% only. There was no difference in the demographic features, biochemistry, HCV genotypes and disease status between autoantibody-positive and autoantibody-negative patients. CONCLUSIONS: Autoantibodies were commonly found in patients with chronic HCV infection. But, the presence of autoantibodies may be a non-specific finding in chronic hepatitis C infection without clinical significance.
Autoantibodies* ; Autoimmune Diseases ; Biochemistry ; Discrimination (Psychology) ; Genotype ; Hepacivirus ; Hepatitis C, Chronic* ; Hepatitis, Autoimmune ; Hepatitis, Chronic* ; Humans ; Liver ; Prevalence* ; Rheumatoid Factor

Although tuberculosis of the central nervous system is well known, the incidence of intramedullary tuberculomas is low and a combination of intramedullary with intracranial tuberculomas is extremely rare. We report a case of disseminated tuberculoma involving brain and spine with miliary pulmonary tuberculosis in a 66-year-old woman initially presenting with fever, general weakness, back pain and motor weakness of both lower extremities. Despite medical therapy, she developed progressive motor weakness of both lower extremities with muscle strength 1/5 in both lower extremities. Urgent surgical intervention was followed and her muscle power and motor functions were improved gradually. The anti-tuberculous drugs were continued and the follow-up magnetic resonance imaging (MRI) of brain and spine showed that the lesions had become smaller or disappeared.
Aged ; Back Pain ; Brain ; Central Nervous System ; Female ; Fever ; Follow-Up Studies ; Humans ; Incidence ; Lower Extremity ; Magnetic Resonance Imaging ; Muscle Strength ; Muscles ; Spinal Cord ; Spine ; Tuberculoma ; Tuberculoma, Intracranial ; Tuberculosis ; Tuberculosis, Pulmonary

No abstract available.

OBJECTIVE: Duchenne muscular dystrophy(DMD) is a X-linked recessive disease and results from mutation in the dystrophin gene. In this study, we evaluate the efficacy of polymerase chain reaction-restriction fragment length polymorphism in prenatal genetic diagnosis of DMD. METHODS: DNA was isolated from DMD family's blood and fetal amniocyte and used to perform PCR-RFLP. In DMD family(3 cases), linkage analysis was tried with 5 RFLP probes. RESULTS: DMDs of the family A had mutiple exon deletions(6, 8, 12, 13, 17). The mother was a heterozygote of pERT84;MaeIII. The male fetus had a same allele and also same exon deletions with the affected males. The pregnancy was terminated at IUP 18 gestational weeks. Pregnant woman of the family B was heterozygote of both pERT84;MaeIII and pERT87-15;BamHI, and pregnant woman of the family C was of pERT84;MaeIII. The both male fetuses , as compared with the affected male of each family, had a different allele. Thus, the fetuses were probably not affected with a confidence level of 95%. CONCLUSIONS: Prenatal diagnosis in prevention of DMD is most important. PCR-RFLP analysis in DMD family is rapid and useful diagnostic tool.
Alleles ; Diagnosis ; DNA ; Dystrophin ; Exons ; Female ; Fetus ; Heterozygote ; Humans ; Male ; Mothers ; Muscular Dystrophy, Duchenne* ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis*

Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray.
Cartilage ; Cataract ; Chondrodysplasia Punctata ; Chondrodysplasia Punctata, Rhizomelic* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Extremities ; Female ; Humans ; Infant ; Skin

Generalized plane xanthoma is less common and usually involves the eyelids, lateral side of the neck, upper trunk, and extremities. Lesions, however, may appear on any portion of the body. Cutaneous xanthomas may occur in hyperlipidemic and in normolipidemic states. Generalized normolipidemic plane xanthoma is often associated with multiple myeloma, other reticulo-endothelial malignancies and monoclonal gammopathy with unknown significance(MGUS). We wish to report two eases of generalized plane xanthoma associated with IgG monoclonal gammopathy of unknown significance.
Extremities ; Eyelids ; Immunoglobulin G ; Multiple Myeloma ; Neck ; Paraproteinemias* ; Xanthomatosis*