BACKGROUND: Bronchial hbyperresponsiveness (BHR) is a key feature of asthma, and may precede the development of asthma. Genetically determined and acquired factors may contribute to development of BHR. OBJECTIVE: To evaluate expression of bronchial responsiveness to methacholine according to age, sex, smoking habit, and atopy in general population without bronchial asthma, a cross sectional study was performed. METHOD: A total of 1,190 general population who composed of 408 subjects with age less than 19 years (young age group), 621 subjects with age from 20 to 40 years (middle age group), and 161 subjects with age more than 41 years (old age group) were enrolled. Evaluations were made by a questionnaire, serum IgE level and skin prick test to common inhalant allergens, and methacholine bronchial provocation test (MBPT). Bronchial responsiveness were evaluated by positive rate of MBPT (PC,p-methacholine 4 25mg/ml), and slope of dose- response curve (slope, %fall of FEV, / log[last concentration of methacholine, mg/ml]). RESULT: Positive rate of MBPT was 11.0%, and slope (mean+SE) was 10.6+0.2 %/mg/ml. Postive rate of MBPT was more prevalent in the young age group than in middle and old age groups (19.6% vs. 6.6% vs. 6.2%, p<0.05), and slope was higher in young age group than in other groups (14.4+0.4 vs. 8.6+0.3 vs. 8.9+0.5 %/mg/ml, p<0.05). No significant differences in positive rate of MBPT and slope were noted according to sex in young and old age groups. However, in the middle age group, slope was higher in females than in males (9.5+0.4 vs. 7.9+ 0.3 %/mg/ml, p<0.05). No significant differences of slope was observed according to smoking habit in males of middle age group, but in males of old age group, the slope was higher in subjects with smoking habit than those without it (9.6+0.8 vs. 6.5+0.9 %/mg/ml, p<0.05). Significant relationship was observed between geometric value of serum IgE level and slope(r=0. 152, p=0.009). The postive rate of MBPT and slope were significantly higher in subjects with positive skin rea,ctivity to common inhalant allergens than those without it (14.3% vs. 8.6%, p ( 0.05; 11.8+0.4 vs. 9.8+0.3 %/mg/ml, p<0.05). The difference of bronchial responsiveness according to skin reactivity was observed in young and middle age groups, but not in old age group. CONCLUSION: Bronchial responsiveness to methacholine is significantly higher in children than in adults, in middle-aged females than in middle-aged males. Atopy and smoking may have a dif ferent role to determine the bronchial responsiveness depending upon age and sex.
Adult ; Allergens ; Asthma* ; Bronchial Provocation Tests ; Child ; Female ; Humans ; Immunoglobulin E ; Male ; Methacholine Chloride* ; Middle Aged ; Skin ; Smoke ; Smoking ; Surveys and Questionnaires

Paget bone disease(PBD) is usually focal, but can be wide spread disorder of the skeletal remodeling characterized by greatly increased osteoclast size and activity. It has extremely variable prevalence worldwide, being common in England and northern European countries and areas populated by their descendants, but strikingly uncommon in Asia, the middle east, Africa and Scandinavia. It's occurrence also shows familial clustering, some postulates autosomal dominant inheritance. Many studies have shown that paramyxoviruses may play a critical role in the etiology of this disorder. However, the precise etiology of PBD remains unknown.We describe a kindred with PBD in 3 successive generations. The propositus, a 55-year-old man, has panostotic PBD and giant cell reparative granuloma of pagets disease involving his head, mandible, abdomen and ileum, rare tumorous complication of Paget's disease. Bowed limbs were first noticed at age 25 years, and progressed for 20 years. Giant cell reparative granuloma began manifesting at age 45 years, and responded dramatically to high-dose dexamethasone therapy. His pretreatment biochemical finding were remarkable for elevated serum ALP, 765(normal 66-220 u/L) and osteocalcin, 154(normal 6.3-30.7 mg/ml), but normal serum calcium, phosphorous, 250HD and PTH. A nondecalcified iliac crest specimen demonstrated classic histopathologic 25OHD and PTH. A nondecalcified iliac crest specimen demonstrated classic histopathologic changes of PBD on light microscopy. His decreased father had a similar degree of bony deformities beginning at age 20 years, but had not been examined. His two asymptomatic daughters, 20 and 24-year-old, were both found to be affected with widespread PBD by bone scan, radiographic study, and their serum ALP levels, 939 and 435U/L, respectively. This is the first report of familial occurance of PBD and a case of giant cell reparative granuloma of Paget's disease in Korea, where PBD is very rare.
Abdomen ; Africa ; Asia ; Bone Diseases ; Calcium ; Congenital Abnormalities ; Dexamethasone ; England ; Extremities ; Family Characteristics ; Fathers ; Giant Cells ; Granuloma ; Head ; Humans ; Ileum ; Korea ; Mandible ; Microscopy ; Middle Aged ; Middle East ; Nuclear Family ; Osteocalcin ; Osteoclasts ; Pedigree ; Prevalence ; Scandinavian and Nordic Countries ; Wills ; Young Adult

In order to examine the usefulness of the sympathetic skin response(SSR) as an indicator of autonomic dysfunction, we measured the amplitudes and latencies of the SSR in 64 consecutive non-insulin dependent diabetic patients, which were compared with those of 54 normal controls. The SSR on stimulation of median and posterior tibial nerves with EMG electrographer were correlated with nerve conductoin velocity(NCV) findings of median, posterior tibial and sural nerves and with beat-to-beat variation, measured as difference beeen maximum and minimum heart rate during deep breathing. Diabetic patients were also divided into 5 subgroups according to the symptoms of peripheral neuropathy, autonomic neuropathy and NCV findings for further comparisons. The results were as follows: 1. The shapes of the SSR were similar in the hand and the foot, but the amplitude was consistently greater in the hand than in the foot(p<0.001). The latency was shorter in the hand than in the foot(P<0.001). 2. The latencies of the foot and hand SSR in the diabetic patients were not significantly different from the normal controls. On the other hands, the amnplitude of the hand and foot SSR was significantly reduced compared to the control(p<0.001). 3. Of the patients with absent foot SSR, 20(59%) had two or more symptoms of autonomic involvement, whereas 14(14%) had no autonomic symptoms. These difference were significant(p Diabetes Mellitus ; Diabetic Neuropathies ; Extremities ; Foot ; Hand ; Heart Rate ; Humans ; Peripheral Nervous System Diseases ; Respiration ; Skin* ; Sural Nerve ; Tibial Nerve

BACKGROUND: It is known that total serum IgE levels closely corrleate with prevaience of asthma regardless of atopic status. Although heredity is reported to be important in expression of total serum IgE in twin studies, genetic factor controlling this phenotype is controversial. Objective .' To evaluate whether genetic factor in chromosome 1 1q13 may control the expression of tatal serum IgE level, linkage analysis between this phenotype and gene marker of chromosome 11q13 was investigated. MATERIAL AND METHOD: Total serum IgE level and the genotype of chromosome 11q13 with microsatellite marker (D11597) was determined in 73 probands of asthmatic chiMren and 76 their sibs. Statistical significance of linkage was evaluated by affected and quantitative trait locus (QTL) sib-pair analysis. RESULT: In 20 affected sib-pairs with total serum IgE level higher than 305 IU/ml (geometric mean plus two folds SD in 53 normal controls), two D11S97 alleles were shared by ten sib-pairs, one allele by nine sib-pairs, and no allele by one sib-pairs. Sharing rate of the alleles in affect,ed sib-pairs, was 72.5%, which indicates linkage of the phenotype and genotype (x=4. 27, p=0.03). In 35 sib-pairs with total serum IgE level higher than 170 IU/ml (geometric mean plus one fold SD in 53 normal controls), two D11S97 alleles were shared by 16 sib-pairs, one allele by 15 sib-pairs, and no allele by four sib-pairs. The shar ing rate of the alleles in affected sibpairs, was 67.1%, which indicates linkage of the phenotype and the genotype(x=4. 24, p=0.03). Difference of geometric value of total serum IgE levels between probands and their sibs wa,s smaller in 32 sib-pairs sharing two alleles than in 32 those sharing one allele and 12 those with no identical allele (0.45+0.07 vs. 0.52+0.07 vs. 0.89 +0.21). CONCLUSION: The expression of total serum IgE level was linked to gene marker of chromosome 11q13.
Alleles ; Asthma ; Child* ; Chromosomes, Human, Pair 1 ; Genotype ; Heredity ; Humans ; Immunoglobulin E* ; Microsatellite Repeats ; Phenotype ; Quantitative Trait Loci

BACKGROUND: Increased IgE antibody responses to inhalant allergens and bronchial hyperresponsiveness are important phenotypes in development of asthma. Although heredity reported to be important in expression of these phenotypes in twin and family studies, genetic factor(s) controlling these phenotypes is unknown. OBJECTIVE: To evaluate whether genetic factor in chromosome 11q13 may control the expression of IgE responses to common inhalant allergens and bronchial hyperresponsiveness, linkage analysis between these phenotypes and gene marker of chromosome 11q13 was investigated. MATERIALS AND METHODS: The phenotyping and genotyping using microsatellite marker (D11S97) were performed in 77 probands with bronchial asthma and 80 their sibs. The linkage analysis between these phenotypes and the genotype was evaluated by affected or quantitative trait locus (QTL) sib-pair analysis. RESULTS: Positive skin test responses to inhalant allergens were 55/77(71.4%) in probands and 44/79(55.6%) in sibs, respectively. Positive bronchial provocation test responses to methacholine were 27/61(44.3%) in sibs, geometric mean of PC20-methacholine were 5.2 mg/ ml in probands and 39.4 mg/ml in sibs, respectively, and slope of dose response curve(mean+- SE, %/mg/ml) were 11.3 +- 3.22 in probands and 1.97 +- 0.5 in sibs, respectively. Of 34 sib-pairs with positive skin test responses to allergens, two D11S97 alleles were shared by 21(61.8% ) sib -pairs, one allele by 11(32.3% ) sib-pairs, and no identical allele by two(5.9% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 77.9%, which indicates linkage of the phenotype and genotype(p<0.001). Of 25 sib-pairs with bronchial hyperresponsiveness to methacholine, two D11S97 alleles were shared by seven(28%) sib-pairs, one allele by 11(44%) sib-pairs, and no identical allele by seven(28% ) sib-pairs. In affected sib-pairs, sharing rate of the alleles was 50%, which indicates no linkage between the phenotype and genotype(p) 0.05). Differences of geometric value(mean +- SE) of PC-methacholine and slope of dose response curve(mean +- SE, %/mg/ml) were 1.11+- 0.17 and 8.33+- 3.35 in sib-pairs sharing two alleles, respectively, 0.99 +- 0.14 and 14.27+-5.75 in sib-pairs sharing one allele, respectively, and 0.57+-0.13 and 3.64+-1.62 in sib-pairs sharing no allele, respectively. There was no difference of the above values among the three groups. CONCLUSION: The expression of skin reactivity to common inhalant allergens was linked to gene marker of chromosome 11q13, not with bronchial responsiveness to methacholine.
Alleles ; Allergens* ; Antibody Formation ; Asthma ; Bronchial Provocation Tests ; Child* ; Genotype ; Heredity ; Humans ; Immunoglobulin E ; Methacholine Chloride ; Microsatellite Repeats ; Phenotype ; Quantitative Trait Loci ; Skin Tests ; Skin*

Carcinoma showing thymus-like differentiation (CASTLE) is a very rare malignant neoplasm of the thyroid, which resembles lymphoepithelioma or squamous cell carcinoma of the thymus. It originates from ectopic thymic tissue or remnants of the branchial pouches. We recently experienced a case of CASTLE in the thyroid gland of a 65-year-old woman. The patient presented with a non-tender mass in the right thyroid gland and dyspnea and coughing upon bending. The patient was diagnosed with ‘cystic change of adenomatous goiter’ of the thyroid by fine needle aspiration cytology. Right thyroidectomy was performed because of nodular hyperplasia on frozen biopsy. Histologic examination of the resected tumor showed that the tumor was lobulated and expansive growth pattern, with fibrous septa dividing the tumor and infiltrated by lymphocytes and plasma cells. Tumor cells possessed oval, large vesicular nuclei and prominent nucleoli, and the immunohistochemical staining was positive for CD5. The patient was diagnosed with thyroid CASTLE. We performed complete thyroidectomy. There has been no local regional recurrence.
Aged ; Biopsy ; Biopsy, Fine-Needle ; Carcinoma, Squamous Cell ; Cough ; Dyspnea ; Female ; Humans ; Hyperplasia ; Lymphocytes ; Plasma Cells ; Recurrence ; Thymus Gland* ; Thyroid Gland ; Thyroidectomy

BACKGROUND: The etiology of Parkinson's disease (PD) has not been established, but familial forms of the disease have some clues for its pathogenesis. Autosomal dominantly inherited familial PD induced by aberrations of the alpha-synucein gene has been known as a genetic model of PD and sheds light to the understanding of PD pathogenesis. Synphilin-1 is a protein which interacts with alpha-synuclein and constitutes the Lewy body. METHODS: Immortalized human neural stem cells were transfected with the alpha-synuclein gene and synphilin-1 gene, to define the role of Lewy body inclusions in neuronal cell death. RESULTS: Human neural stem cells with Lewy body-like inclusions showed an increased apoptotic cell death compared to those with diffuse alpha-synuclein-positive and synphilin-1-positive reaction after transfection with the alpha-synuclein gene and synphilin-1 gene. Tyrosine hydroxylase over-expressing cells produced a high level of levodopa and showed a higher rate of the apoptotic marker. CONCLUSIONS: These results suggest that the formation of Lewy body-like inclusions by the over-expression of alpha-synuclein and synphilin-1 could be an underlying cause of apoptotic neuronal cell death and the dopaminergic cell might be more susceptible.
alpha-Synuclein* ; Apoptosis ; Cell Death* ; Humans* ; Inclusion Bodies* ; Levodopa ; Lewy Bodies ; Models, Genetic ; Neural Stem Cells* ; Neurons ; Parkinson Disease ; Transfection* ; Tyrosine 3-Monooxygenase

BACKGROUND: Atopic diseases have been increasing according to changes in life style and indoor environments. Atopic rhinitis is a prevalent atopic disease in children, but the prevalence has been reported differently according to geographic areas. OBJECTIVE: This study was conducted to elucidate the prevalence of childhood atopic rhinitis and to identify the distribution of causative allergens in total children living in rural areas of Cheju island. METHOD: A total of 7,145 subjects aged 7-15 years in South Cheju County was recruited in this study. They responded to an ISAAC questionnaire and underwent allergy skin prick test with common aeroallergens. Chronic rhinitis was positive in this respect if subjects experienced two or more rhinitis symptoms such as sneezing, runny nose, itchy nose and nasal blockage, which were not related to the common cold. Atopy was regarded as positive when the wheal caused by one or more of the common allergens was the same or larger than that caused by histamine. RESULTS: The prevalence of chronic rhinitis was 10.5%. The prevalence of chronic rhinitis was the same between girls and boys, but higher as the ages of the subjects were older (7-9 years: 7.7%; 10-12: 10.6%; 13-15: 12.3%, p< 0.001). The atopy rate was 59.7%, meaning that the prevalence of atopic rhinitis was 6.2% and non-atopic rhinitis 4.2%. The common sensitizing allergens in decreasing order were Dermatophagoides pteronyssinus (40.4%), D. farinae (36.3%), citrus red mite (16.4%), cockroach (14.4%), outdoor Fungi (9.8%), Hop Japanese (5.6%) and Japanese cedar (4.5%) pollens. CONCLUSION: The prevalence of atopic rhinitis was 6.2% and the causative allergens such as citrus red mite and Japanese cedar pollen were different from the Korean mainland area.
Allergens* ; Asian Continental Ancestry Group ; Child* ; Citrus ; Cockroaches ; Common Cold ; Cryptomeria ; Dermatophagoides pteronyssinus ; Female ; Fungi ; Histamine ; Humans ; Humulus ; Hypersensitivity ; Jeju-do* ; Life Style ; Mites ; Nasal Obstruction ; Nose ; Pollen ; Prevalence* ; Rhinitis* ; Skin ; Sneezing ; Surveys and Questionnaires

BACKGROUND: Familial aggregation of the phenotypes can be caused by common environmental and genetic factors, but there has been no family study on familial aggregation of the bronchial asthma, and genetic role of atopy and bronchial responsiveness in the development of asthma in Korean families. OBJECTIVE: We did family study to evaluate the familial aggregation of bronchial asthma, and the genetic role of atopy and bronchial responsiveness in the development of asthma. MATERIALS AND METHODS: Questionnaire, serum total IgE level, skin prick test with 10 common aeroallergens, and bronchial responsiveness to methacholine were performed in 154 parents of atopic asthmatics, 72 parents of atopic control, and 65 parents of non-atopic control. RESULTS: Bronchial asthma was more prevalent in parents of atopic asthmatics(7.1% ) than in parents of non-atopic control(0% ). Geometric mean of serum total IgE level was not different among parents of atopic asthmatics, atopic control, and non-atopic control(2.03+0.06, 2.10 +0.07, and 1.89 +0.09 IU/ml). Positive rates of skin prick test to 10 common aeroallergens were more prevalent in parents of atopic asthmatics(43.0% ) and atopic control(43.0% ) than in parents of non-atopic control(27.8%). Prevalence of bronchial hyperresponsiveness to methacholine was more prevalent in parents of atopic asthmatics(17.0% ) than in parents of atopic control(7.2%) and non-atopic control(1.5%), and slope of dose-response curve was more increased in parents of atopic asthmatics(11.0+ 1.5) than in parents of atopic control and non-atopic control(4.8+ 0.7 and 3.0+ 0.5). CONCLUSION: Bronchial asthma runs in Korean families, and genetic role of atopy and bronchial responsiveness may be important in the development of asthma.
Asthma* ; Humans ; Immunoglobulin E ; Methacholine Chloride ; Parents ; Phenotype ; Prevalence ; Skin ; Surveys and Questionnaires

Many in vivo and in vitro studies have demonstrated the targeted migration of neural stem cells (NSC) to infiltrating brain tumors, including malignant glioma, highlighting a potential therapeutic approach. However, there is not enough information to apply this approach to clinical therapy. The most important things in stem cell therapy for brain tumors involve selecting the appropriate neural progenitor type and optimizing the efficiency of the cell engraftment. By histological analysis using two different live-dyes, human NSCs were shown to migrate away from the transplanted site in the direction of the expanding C6 glioma and to intermix with the tumor bed, especially with the tumor core. This intermixing occurred within 7 days when NSCs were implanted into glioma model. The time course of migratory HB1.F5 with the greatest mobility of three NSC lines was as follows. As early as 3 days after transplantation, several NSCs were found leaving the implant site, primarily approaching microsatellites and frontier cells located near the site of NSC implantation. Through 7 days post-transplantation, massive numbers of NSCs continued to be attracted to and interspersed with C6 glioma, and were finally distributed extensively throughout the whole tumor bed, including the core and penumbra of the tumor mass. However, NSCs appeared to penetrate into the tumor mass very well, whereas normal fibroblast cells could not migrate. These findings strengthen the potential for human NSCs as attractive vehicles to improve therapeutic gene delivery to cancer or glioma if they are optimized to selectively kill neoplastic cells.
Animals ; Brain/*cytology/*pathology ; Brain Neoplasms/*pathology ; *Cell Movement ; Female ; Glioma/*pathology ; Humans ; Mice ; NIH 3T3 Cells ; Neurons/*cytology ; Rats ; Rats, Sprague-Dawley ; Stem Cells/*cytology