BACKGROUND: No association between schizophrenia and dopamine D4 receptor polymorphisms have been reported. Despite these results, it is premature to exclude the association. It has been suggested that the susceptibility to develop schizophrenia could result from variation at a number loci which may interact or co-act with each other. Therefore, we investigated a possible assoication of combinations of exon III 48bp polymorphism [D4E3] and exon I 12bp polymorphism of the DRD4 gene [D4E1] with schizophrenia. METHOD: 207 unrelated Korean schizophrenic patients and 191 healthy controls wee recruited. DRD4 genotype was established using the polymerase chain reaction. Statistical analysis consisted of chi2 tests for Hardy-Weinberg proportions and genotypic and allelic frequencies in the patients and control groups. RESULT: There were no statistically significant differences in the each polymorphisms between schizophrenics and controls. And all genotype frequencies were within Hardy-Weinberg expectations. When the combinations of the polymorphism in schizophrenia and controls were compared, however, there were significant differences at A1A2*2/4 in the distributions of the combinations of D4E1 and D4E3(p<0.01). CONCLUSION: These findings suggest that the certain combination of D4E1 and D4E3 (A1A2*2/4) has the protective role to a susceptibility for schizophrenia.
Dopamine* ; Exons ; Genotype ; Humans ; Polymerase Chain Reaction ; Receptors, Dopamine D4 ; Schizophrenia

No abstract available.
Temporomandibular Joint*

No abstract available.
Temporomandibular Joint*

BACKGROUND: To evaluate the role of free fatty acids on the ischemic myocardium, influences of various free fatty acids upon transmembrane action potential and ATP-sensitive K+(KATP) channel activity were examined in the ventricular myocardium and single cardiac myocytes. METHODS: KATP channel activities were measured in the enzymatically (collagenase) isolated single rat ventricular cardiac myocytes by the method of the excised inside-out and the cell-attached patch clamp, and transmembrane action potentials were recorded using the conventional 3M-KCl microelectode techniques in the rat ventricular myocardium. RESULTS: Free fatty acids [FFAs; arachidonic acid (AA), linoleic acid (LA) and lysophosphatidylcholine (LPC)] reduced the KATP channel activity in a dose-dependent manner in the inside-out patch, and 50%-inhibition concentrations (IC50) were 88 +/- 11.2, 49 +/- 12.5, and 188 +/- 17.4 M respectively. Both frequency of channel opening and the mean open-burst duration were markedly decreased, but the amplitude of single channel currents were not changed by the FFAs. AA (50 micrometer) and LPC (50 micrometer) did not affect the dinitrophenol (DNP, 50 micrometer)-induced KATP channel activity, whereas LA (50 micrometer) had a tendency to reduce the activity. The channel inhibition effects by 10 micrometer AA in the inside-out patch were significantly augmented by diclofenac (10 micrometer), but was not changed by nordihydroguaiaretic acid. FFAs never stimulated KATP channel activity, even in the inside-out patch where KATP channel activity reduced in the presence of internal ATP (100 micrometer). Time for 90% repolarization (APD90) significantly increased during superfusion of the FFAs, to 22 (50 micrometer AA), 24 (50 micrometer LA), and 18 (50 micrometer LPC) % from those of the contol at the time of 10 min superfusion, but the other action potential characteristics were not changed by the FFAs. AA (10 micrometer) attenuated cromakalim (10 micrometer)-induced APD90 shortening effects. CONCLUSION: It was inferred that FFAs inhibit the KATP channel activity directly by themselves and/or indirectly by their metabolites in the rat ventricular cardiomyocytes, and therefore, duration of action potential lengthens to be a burden over the ischemic myocardium accounting for the injury of myocardium at the late stage of ischemia.
Action Potentials* ; Adenosine Triphosphate ; Animals ; Arachidonic Acid ; Cromakalim ; Diclofenac ; Fatty Acids, Nonesterified* ; Ischemia ; Linoleic Acid ; Lysophosphatidylcholines ; Masoprocol ; Myocardium* ; Myocytes, Cardiac ; Potassium Channels* ; Potassium* ; Rats*

The tear film break-up time test is a useful diagnostic test for dry eye syndrome,but it shows a wide range of results in normal subjects according to many factors, especially the methods of measuring it. We studied the factors having some influences on B.U.T. and tried to find out a standard method of measuring B.U.T. in normal subjects. The results were as follows: 1. The subjects were healthy without any ocular disease or symptoms. Total subjects were 200 persons, 400 eyes. 2. The standard method of measuring B.U.T. was as follows: a drop of 0.125% sodium fluorescein was applied into the conjunctival sac and the patient was allowed to blink for at least 1-2 minutes. The tear film was then scanned without holding the lids, using the slit lamp beam, 4-5mm in width. 3. The mean B.U.T. measured by the standard method was 20.35 +/- 6.45 sec in normal subjects. 4. The mean B.U.T. was 18.17 +/- 8.02'sec in the group using fluorescein paper, 9.68 +/- 6.19 sec in the group blinking just 4-5 times,16.54 +/- 8.32 sec in the group measured holding the lids with the fingers, and 18.36 +/- 7.95 sec in the group using a broad beam. 5. There were statistically significant decreases of B.U.T. in the group blinking just 4-5 times and in the group measured holding the lids with the fingers.
Blinking ; Diagnostic Tests, Routine ; Fingers ; Fluorescein ; Humans ; Tears*

PURPOSE: There are few reports about the natural history of patients with pseudoprecocious puberty due to autonomous ovarian cyst. We reviewed the clinical course of 7 patients who had autonomous ovarian cysts and signs of precocious puberty. METHODS: We retrospectively evaluated 7 children, aged 2.8 to 7.9 years, who were diagnosed with pseudoprecocious puberty due to autonomous ovarian cysts from November 2005 to May 2011. The follow-up durations ranged from 0.5 to 6.3 years. RESULTS: Four out of 7 patients showed elevated serum estrogen levels and all revealed prepubertal response of gonadotropin to GnRH stimulation at diagnosis. The size of the cysts was from 1.7 to 4.6 cm on pelvic ultrasound examination. After 1 to 3 months, the ovarian cysts disappeared in all patients. Three of the girls developed relapsing signs of precocious puberty (vaginal bleeding and breast budding). Two of them showed an increase in growth velocity and bone age due to recurrent ovarian cysts, and one of them was converted to true precocious puberty. CONCLUSION: In our cases, all patients with autonomous ovarian cysts resolved spontaneously. However, some showed frequent recurrence of ovarian cysts, and needed a longer follow up because of the possibility of conversion to true precocious puberty and signs of McCune-Albright syndrome.
Aged ; Breast ; Child ; Estrogens ; Female ; Fibrous Dysplasia, Polyostotic ; Follow-Up Studies ; Gonadotropin-Releasing Hormone ; Gonadotropins ; Hemorrhage ; Humans ; Natural History ; Ovarian Cysts ; Puberty ; Puberty, Precocious ; Recurrence ; Retrospective Studies

PURPOSE: Providing an adequate amount of energy is important in patients with depleted nutrition. Indirect calorimetry is a portable tool that can measure the resting energy expenditure, the respiratory quotient, and the ratio of substrate utilization. Another way of getting the energy expenditure is through the use of equations, and that has been a more common way to get the basal energy expenditure. However, there has been a controversy that the energy expenditures calculated from equations are not the same as the values measured by indirect calorimetry. METHODS: Our study was to clarify this difference in two different groups with different physical conditions and growth. One was a normal-adult group (n=18), and their energy expenditure was calculated using the Harris-Benedict equations. The other was a normal-newborn group (n=7), and their energy expenditure was calculated using the Schofield equations. Calculated values were compared with the resting energy expenditure from indirect calorimetry (Deltatrac Metabolic Monitor, Datex Inc. Finland). RESULTS: In the adults, the basal energy expenditure was 1703.3+/-100.2 kcal/d according to the Harris-Benedict equations, and the resting energy expenditure was 1701+/-289.6 kcal/d according to indirect calorimetry (p>0.1). VO2 was 245.7+/-42.8 ml/min, VCO2 was 210+33.4 ml/min, and RQ was 0.86+/-0.05. In the neonates, the basal energy expenditure was 184.1+/-15.1 kcal/d according to the Schofield equations, and the resting basal energy expenditure was 154.3+/-32.1 kcal/d (p<0.05). VO2 was 21.9+/-4.3 ml/min, VCO2 was 18.7+/-4.0 ml/min, and RQ was 0.85+/-0.02. The ratios of substrate utilization were 192.1+/-58.8 g/d (48.03+/-16.8%) for carbohydrates, 69.7 +/-35.6 g/d (37.8+/-17.2%) for fats, and 55.8+/-14.9 g/d (14.3+/-3.9%) for proteins in the adults. In the neonates, the ratios were 18.6+/-5.6 g/d (50.3+/-7.0%) for carbohydrates, 18.6+/-1.1 g/d (47.7+/-6.2%) for fats, and 1+/-0 g/d (3.0+/-0.73%) for proteins. CONCLUSION: The difference between the basal energy expenditure obtained from equations and the resting energy expenditure obtained from indirect calorimetry could be identified only in the neonate group, but not in the adult group. It is speculated that resting energy expenditure was more reliable than the basal energy expenditure in neonates. Indirect calorimetry canbe a useful tool to correct the errors in the values obtained from equations, and other parameters, such as the respiratory quotient and the ratio of substrate utilization, should be evaluated in nutritional support.
Adult ; Calorimetry, Indirect* ; Carbohydrates ; Energy Metabolism* ; Fats ; Humans ; Infant, Newborn* ; Nutritional Support ; Young Adult*

Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).
Autopsy* ; Chromosome Aberrations ; Diagnosis ; Dwarfism ; Extremities ; Fetal Growth Retardation ; Fetus ; Gestational Age ; Osteochondrodysplasias* ; Osteogenesis Imperfecta ; Polyhydramnios ; Thanatophoric Dysplasia

A polymerase chain reaction (PCR) method for detection of the pathogenic Yersinia pestis from other Yersinia spp. was developed. Five Y. pestis strains, ninety-two other Yersinia species and twenty-four Enterobacteriaceae strains were collected in Korea and from other countries. Oligonucleotide primers were designed from pathogenic gene of antiphagocytic protein capsule gene (fra 1) and plasminogen activator gene (pla). The 428 bp DNA fragment was amplified from five Y. pestis which contained the fra I gene. No product was amplified from other Yersinia species and other strains of the Enterobacteriaceae. The 439 bp DNA fragment was amplified from three K pestis which contained the pla gene. No product was amplified from two Y. pestis, other Yersinia species and other strains of the Enterobacteriaceae. These showed that the designed primers were specific for detection of Y. pestis among other Yersinia species and Enterobacteriaceae strains. Amplification was successful whether the template was derived from purified DNA or from aliquots of boiled bacterial suspension. The detection limits were 100 pg of DNA and 100 colony forming units (CFU) for fra I and 100 pg DNA and 10 CFU for pla, respectively. Our results prove that the PCR method using specific primers for Y. pestis is a rapid and convenient procedure for routine clinical detection and identification of Y. pestis.
DNA ; DNA Primers ; Enterobacteriaceae ; Korea ; Limit of Detection ; Plasminogen Activators ; Polymerase Chain Reaction* ; Stem Cells ; Yersinia pestis* ; Yersinia*

No abstract available.
Adenosarcoma* ; Endometrium* ; Female