A case of neonatal diabetes mellitus is described. The child presented with low birth weight but was normal in appearance. She was acidotic and ketonuria was observed. The HLA typing was DR1 and 3, and insulin autoantibodies were negative. Genetic analysis with polymorphic DNA markers for chromosome 6 indicated biparental inheritance. She required insulin therapy for the control of hyperglycemia, and insulin dependence continues after 8 months of age.
Autoantibodies ; Child ; Chromosomes, Human, Pair 6 ; Diabetes Mellitus* ; Genetic Markers ; Histocompatibility Testing ; Humans ; Hyperglycemia ; Infant, Low Birth Weight ; Infant, Newborn ; Insulin ; Ketosis ; Wills

No abstract available.
Hormone Replacement Therapy ; Humans ; Incheon* ; Osteoporosis* ; Physicians, Primary Care* ; Primary Health Care*

Platelet-rich plasma (PRP) has been known to increase the rate and degree of bone formation by virtue of growth factors in concentrated platelets. Although its great healing effect on bone defect or pre-implantation site preparation in conjunction with bone substitute has been reported, the effect associated with implant is unknown. The purpose of this study was to investigate the effect of PRP on rapid osseointegration of endosseous dental implants in the rabbit tibiae. Twenty two adult female New Zealand white rabbits, weighing approximately 2.7-3.3kg, were used for this study. Twelve of the 22 animals were used for histomorphometric analysis and ten of the 22 were for removal torque test. Each animal received two implants in each tibia (two treated with PRP and two as control) and was given fluorochrome intramuscularly. For histomorphometric analysis, rabbits were divided into four groups according to the healing period. At 1 week, 2 weeks, 4 weeks and 8 weeks postoperatively, each three animals were sacrificed serially and the amount and rate of bone formation around dental implant were examined on the undecalcified sections under fluorescent microscope, polarized microscope and light microscope connected to a personal computer equipped with image analysis system. For removal torque test, rabbits were divided into two groups and removal torque tests were performed at 4 weeks, 10 weeks after implant placement. In total, 88 screw shaped, commercially pure titanium implants (Neoplant, Neobiotech, Seoul, Korea) were used in this study. Labeling pattern reflected differences of two groups in bone formation rate at each period. Histomorphometrically, PRP group showed significantly higher bone volume within threads compared to control group at 2 weeks (70.30+/-4.96% vs. 50.68+/-6.33%; P<.01) and 4 weeks (82.59+/-5.94% vs. 72.94+/-4.57%; P<.05). PRP group at 1, 2 and 4 weeks revealed similar degree of bone volume formation comparable to control group at 2, 4 and 8 weeks, respectively. On the other hand, while PRP group showed higher bone-implant contact (47.37+/-8.09%) than control group (33.16+/-13.47%) at 2 weeks, there were no significant differences between PRP group and control group for any experimental period. Removal torque values also showed no significant differences between PRP group and control group at any experimental period (P>.05). These findings imply that PRP could induce rapid, more bone formation around implant during early healing period and get faster secondary stability for reducing healing period, though it has not induced bone maturation enough to resist functional loading.
Adult ; Animals ; Bone Substitutes ; Dental Implants* ; Female ; Hand ; Humans ; Intercellular Signaling Peptides and Proteins ; Microcomputers ; Osseointegration ; Osteogenesis* ; Platelet-Rich Plasma* ; Rabbits ; Seoul ; Tibia ; Titanium ; Torque* ; Virtues

Uterine sarcoma whieh is originated from uterine muscle and/or connective tissues, is very rare malignant tumor and is the most lethel of all primary uterine tumors. This study was undertaken to correlate the clinieal findings, diagnoses, managements and ultimate outcome of each particluar grouy of uterine sarcoma at Depart,ment of Obstetrics and Gynecology in Korea University Hospital. The reaults were as follows, 1. The distribution of uterinesarcomaby histologic type was 5 cases (35.7%) for leiomyosarcoma, 5 cases (35.7%) for endometrial strornal sarcoma and 4 eases (28.6%) for mixed Mullerian tumor, 2. The mean age and yarity were 50.8 years and 3.1. 3. The most common syrrlptorn was irregular vaginal bleeding (64.3%), and lower abdominal pain (21.4%), abdominal palpable mass (14.3%) in order of frequency. 4. The distribution by YIGO clinical atage was 35.7% for stage I, 35.7% for stage II, 7.2% for stage IE and 21.4% for stage lV. The average survival time of each stage of disease was decreased with increasing stage. 5. The mean survival time was decreased with inereasing numbers of mitotic figure per 10 high power fields. 6. The mean survival time according to histologc type was 14.5 months for leiomyoaarcoma, 21.5 months for endometrial stromal marcoma, 5.8 months for malignant mixed Mullerian tumor, respectively.
Abdominal Pain ; Animals ; Connective Tissue ; Diagnosis ; Female ; Gynecology ; Korea ; Leiomyosarcoma ; Mice ; Myometrium ; Obstetrics ; Sarcoma* ; Survival Rate ; Uterine Hemorrhage ; Uterus*

Reactive airways dysfunction syndrome (RADS) is a syndrome as a persistent bronchial hyperreactivity with asthmatic dyspnea which occurs after one or more inhalation exposures to a high concentration of irritant gasses, smokes or vapors in subjects who had preciously had no respiratory disease. We report a case of a 34 years old female worker suffering from reactive airways dysfunction syndrome who had been taking charge of guest room cleaning at a condominium. 7 months before, she inhaled high concentration of chlorine gas in confined and poor ventilated working space of bathroom at the condominium. As she was washing a bathroom with a bleaching agent (6 % sodium hypochlorite) without dilution, dyspnea, dizziness, headache, nausea, and coughing developed after work. She still suffer from dyspnea and coughing. All functional tests were normal except for methacholine challenge test which reveals bronchial hyperreactivity. She has some symptoms of dyspnea and coughing when exposed to perfume, cold air, and heavy work.
Adult ; Bronchial Hyperreactivity ; Chlorine* ; Cough ; Dizziness ; Dyspnea ; Female ; Headache ; Humans ; Inhalation Exposure ; Methacholine Chloride ; Nausea ; Perfume ; Smoke ; Sodium

No abstract available.
Actinomycosis*

Urotensin II (UII) is a mitogenic and hypertrophic agent that can induce the proliferation of vascular cells. UII inhibition has been considered as beneficial strategy for atherosclerosis and restenosis. However, currently there is no therapeutics clinically available for atherosclerosis or restenosis. In this study, we evaluated the effects of a newly synthesized UII receptor (UT) antagonist, KR-36996, on the proliferation of SMCs in vitro and neointima formation in vivo in comparison with GSK-1440115, a known potent UT antagonist. In primary human aortic SMCs (HASMCs), UII (50 nM) induced proliferation was significantly inhibited by KR-36996 at 1, 10, and 100 nM which showed greater potency (IC₅₀: 3.5 nM) than GSK-1440115 (IC₅₀: 82.3 nM). UII-induced proliferation of HASMC cells was inhibited by U0126, an ERK1/2 inhibitor, but not by SP600125 (inhibitor of JNK) or SB202190 (inhibitor of p38 MAPK). UII increased the phosphorylation level of ERK1/2. Such increase was significantly inhibited by KR-36996. UII-induced proliferation was also inhibited by trolox, a scavenger for reactive oxygen species (ROS). UII-induced ROS generation was also decreased by KR-36996 treatment. In a carotid artery ligation mouse model, intimal thickening was dramatically suppressed by oral treatment with KR-36996 (30 mg/kg) which showed better efficacy than GSK-1440115. These results suggest that KR-36996 is a better candidate than GSK-1440115 in preventing vascular proliferation in the pathogenesis of atherosclerosis and restenosis.
Animals ; Atherosclerosis ; Carotid Arteries ; Humans ; In Vitro Techniques ; Ligation ; Mice ; Muscle, Smooth* ; Muscle, Smooth, Vascular ; Neointima ; Phosphorylation ; Reactive Oxygen Species

Valproic acid is a commonly prescribed medication approved for epilepsy, migraine and bipolar disorder. The common adverse effects associated with valproic acid include nausea, vomiting, tremor and weight gain. Less common but more serious adverse effects can occur. These include irreversible hepatotoxicity and pancreatitis. We report one case of pancreatitis, an uncommon disorder in children, in an 11-year-old boy treated with valproic acid for simple partial seizure.
Bipolar Disorder ; Child ; Epilepsy ; Humans ; Male ; Migraine Disorders ; Nausea ; Pancreatitis* ; Seizures ; Tremor ; Valproic Acid* ; Vomiting ; Weight Gain

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills