Human gene mutations. Gene symbol: AR. Disease: Androgen insensitivity syndrome.
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Biomedical subjects
Publications and source records attributed to S C Jung.
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To investigate the epidemiological characteristics of Listeria monocytogenes isolated from imported or domestic meats, L. monocytogenes was isolated and identified through biochemical and serological tests, and epidemiological analysis of the isolates was carried out through the random amplification of polymorphic DNA (RAPD) method. Fifty-four isolates were identified as L. monocytogenes through biochemical tests, of which 36 (67%) were confirmed as serotype 1, and 18 (33%) were serotype 4, through the microagglutination test. In the molecular epidemiological analysis using RAPD method, the isolates could be classified into 10, 6 and 6 types using three random primers, PB1, PB4, and HLWL74, respectively. Forty composite profiles were identified by a combination of the three primers. RAPD analysis demonstrated the relationships between the isolates from beef from Korea and the USA, pork from Korea and Denmark. These results suggested that RAPD could be a useful typing tool for the epidemiological study of L. monocytogenes and other bacteria.
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). This enzyme deficiency leads to impaired catabolism of alpha-galactosyl-terminal lipids such as globotriaosylceramide (Gb3). Patients develop painful neuropathy and vascular occlusions that progressively lead to cardiovascular, cerebrovascular, and renal dysfunction and early death. Although enzyme replacement therapy and bone marrow transplantation have shown promise in the murine analog of Fabry disease, gene therapy holds a strong potential for treating this disease in humans. Delivery of the normal alpha-gal A gene (cDNA) into a depot organ such as liver may be sufficient to elicit corrective circulating levels of the deficient enzyme. To investigate this possibility, a recombinant adeno-associated viral vector encoding human alpha-gal A (rAAV-AGA) was constructed and injected into the hepatic portal vein of Fabry mice. Two weeks postinjection, alpha-gal A activity in the livers of rAAV-AGA-injected Fabry mice was 20-35% of that of the normal mice. The transduced animals continued to show higher alpha-gal A levels in liver and other tissues compared with the untouched Fabry controls as long as 6 months after treatment. In parallel to the elevated enzyme levels, we see significant reductions in Gb3 levels to near normal at 2 and 5 weeks posttreatment. The lower Gb3 levels continued in liver, spleen, and heart, up to 25 weeks with no significant immune response to the virus or alpha-gal A. Also, no signs of liver toxicity occurred after the rAAV-AGA administration. These findings suggest that an AAV-mediated gene transfer may be useful for the treatment of Fabry disease and possibly other metabolic disorders.
A process of making a new type of silicon depth-probe microelectrode array is described using a combination of plasma and wet etch. The plasma etch, which is done using a low temperature oxide (LTO) mask, enables probe thickness to be controlled over a range from 5 to 90 mu. Bending tests show that the probe's mechanical strength depends largely on shank thickness. More force can be applied to thicker shanks while thinner shanks are more flexible. One can then choose a thickness and corresponding mechanical strength using the process developed. The entire probe shaping process is performed only at low temperature, and thus is consistent with the standard CMOS fabrication. Using the probe in recording from rat's somatosensory cortex, we obtained four channel simultaneous recordings which showed clear independence among channels with a signal-to-noise ratio performance comparable with that obtained using other devices.
This prospective randomized study was done to assess the safety of 4-hr ambulation after diagnostic cardiac catheterization with 8 French sheaths and catheters. In this selected group of patients, we found that early ambulation could be done without an increase in access site complications.
We report a technique for retrieval of a dislodged coronary stent using a stiff angioplasty wire positioned beside the initial stent guidewire. This two-wire technique provides a better platform to move and position the snare device without moving the dislodged stent and thus lessens the risk of embolization. If a larger femoral sheath is needed for stent removal, this method facilitates sheath exchange. Cathet. Cardiovasc. Intervent. 47:323-324, 1999.
A nationwide investigation of congenital malformations and genetic diseases in Korea was conducted by analyzing Medical Insurance data for infants aged under 1 year. Medical Insurance data were obtained for 1993 and 1994 and the ICD-9 (International Classification of Diseases, Ninth Revision) code was used to classify the diseases. The coverage rate of medical insurance was approximately 95% of the total population. Anomalies of the cardiovascular, musculoskeletal, and gastrointestinal systems, in descending order of frequency, were more frequent than anomalies in other systems. The average prevalence of cardiovascular anomalies for 1993 and 1994 was 15 per 1000 infants, and ventricular septal defect, with an average prevalence of about 3.50 per 1000 for 1993 and 1994, was the most frequent cardiovascular anomaly in infants. Polydactyly was the most frequent musculoskeletal anomaly, with an average prevalence, for 1993 and 1994, of about 1.20 per 1000 infants. Anencephaly had the highest frequency of nervous system anomalies. Congenital hypertrophic pyloric stenosis was the most common of the gastrointestinal anomalies. The prevalence of the congenital malformations and genetic diseases examined was similar to that reported in other countries. Total medical expenses for the care of patients with each disease entity were also estimated. The highest medical expenses were incurred for ventricular septal defect, congenital coagulation factor VIII disorders, atrial septal defect, tetralogy of Fallot, and spinal anomalies, in descending order of magnitude. This investigation could be helpful in planning social welfare systems, as well as for elucidating the current status of congenital malformations and genetic diseases in Korea, and in other Asian countries.
BACKGROUND: The purpose of this study was to prospectively examine the risk of hospitalization for acute myocardial infarction (AMI) in a large, nationally representative sample of very old men and women. METHODS: We utilized secondary analysis of the Longitudinal Study of Aging. Baseline (1984) in-person interview data were linked to Medicare hospitalization records for 1984-1991. Subjects were 6,071 noninstitutionalized adults 70 years old or older at baseline. Hospitalization for AMI was defined as having primary discharge diagnoses containing ICD9-CM 410 codes. Multivariable proportional hazards regression was used to evaluate the epidemiologic risks for all persons, and separately for women, men, self-respondents, those with no previous AMIs, and those with no history of coronary heart disease. RESULTS: Of the sample, 357 persons (5.9%; 172 women and 185 men) had at least one primary discharge diagnosis of AMI. Significant (p<.05) risk factors for being hospitalized with an AMI (adjusted hazards ratios in parentheses) from the pooled analysis were male gender (1.86), having no more than a grade school education (1.35), atherosclerosis (1.43), hypertension (1.29), coronary heart disease (1.63), angina (1.60), previous AMI (1.52), diabetes (1.89), and four or more lower body limitations (1.43). The gender-specific analyses, however, revealed that hypertension, angina, diabetes, and lower body limitations were risk factors only for women, and that having no more than a grade school education was a risk factor only for men. CONCLUSION: Men, especially those with low education, women with diabetes, angina, hypertension, or lower body limitations, and either men or women with previous AMIs, coronary heart disease, or atherosclerosis have elevated risks for AMI resulting in hospitalization, and they should be considered for evaluation and monitoring. Current protocols for therapeutic management should be adopted, and compliance should be encouraged.
A cytogenetic study was performed on 4,117 Korean patients referred for suspected chromosomal abnormalities. Chromosome aberrations were identified in 17.5% of the referred cases. The most common autosomal abnormality was Down syndrome and Turner syndrome in abnormalities of sex chromosome. The proportions of different karyotypes in Down syndrome (trisomy 21 92.5%, translocation 5.1%, mosaic 2.4%) were similar to those reported in other countries. However, it was different in Turner syndrome (45, X 28.1%, mosaic 50.8%, 46, X, del (Xq) 4.4%, 46, X, i (Xq) 16.7%), in which proportions of mosaics and isochromosome, 46, X, i(Xq), were higher than those reported in other countries. In structural chromosome aberrations of autosome, translocation was the most common (43.6%), and duplication (21.3%), deletion (14.4%), marker chromosome (7.9%) and ring chromosome (4.0%) followed in order of frequency. Rates of several normal variant karyotypes were also described. Inversion of chromosome 9 was observed in 1.7% of total referred cases.
Bacterial contamination of in vitro vs in vivo produced embryos presents a particular danger because of the alteration of the zona pellucida and the use of various biological products during culture. Our objective was to investigate the effects of semen contaminated with bacteria on IVF of bovine oocytes and to determine if removal of cumulus cells by vortexing as opposed to pipetting would reduce contamination and improve subsequent embryonic development. Semen from 5 bulls of the Native Korean breed (Bulls A, B, C, D, E) was used for IVF of matured oocytes. Preliminary studies had shown that the semen from Bulls A, B, D and E but not Bull C was contaminated with various species of common bacteria. After IVF, the cumulus cells surrounding the oocytes were removed either by pipetting or vortexing. Viability and cleavage rates of the resulting zygotes was assessed after 44 h in culture. When cumulus cells were removed by pipetting, only zygotes derived from oocytes that were fertilized with uncontaminated semen from Bull C developed to morula and blastocyst stages; zygotes derived from oocytes that were fertilized with contaminated semen from Bulls A, B, D and E started to degenerate, and the culture media became noticeably turbid. When cumulus cells were removed by vortexing, zygotes derived from oocytes fertilized with either contaminated or uncontaminated semen showed good rates of development (16 to 32%) to morula or blastocyst stages. From these results it can be concluded that the bacteria introduced with the semen contaminated the in vitro system and severely reduced the viability of the embryos. In contrast, complete removal of the cumulus cells with vortexing, as opposed to pipetting, reduced the contamination of the culture medium, allowing embryonic development to take place.
Activity-dependent changes of conduction velocity (CV) and conduction block in single A(delta) fibers of primary afferent neurons were characterized in a rat model of neuropathy (NP). Injured dorsal root (DR) fiber in NP rats exhibited profoundly greater decreases of CV following impulse activity than did DR fiber in normal rats. Activity-dependent conduction block was absent up to 100 Hz of activity rate in DR fiber of NP rats, but was present above 25 Hz in normal rats. Profiles of activity dependence in sciatic fibers were similar in both NP and normal rats. These results suggest that nerve injury may alter activity-dependent hypoexcitability of A(delta) DR fibers. Furthermore, this excitability change may be responsible for the elevated pain perception in neuropathy.
The effects of topical application of interleukin-6 (IL-6) on the short and long latency evoked unit responses of the neurones in the primary somatosensory (SI) cortex were determined quantitatively in anaesthetized rats. IL-6 (0.01, 0.1, 1.0 units) significantly suppressed (-15.13 +/- 3.4%) short latency afferent sensory responses, while it induced profound facilitation (+464.74 +/- 132.7%) of long latency responses in a dose-dependent manner. IL-6-induced afferent modulations fully recovered by 60 min after drug administration. In control experiments, saline solution containing 0.2% bovine serum albumin, used as a vehicle, did not affect afferent sensory transmission. Implications of these results are discussed with reference to the different somatosensory functions of short and long latency response components in the SI cortex.
Activity-dependent changes of the conduction latency of single A beta fibers of primary afferent neurons were characterized in both neuropathic (L4 and L6 ligated) and normal rats. Activity-dependent increases in conduction latency of dorsal root fibers in neuropathic rats were significantly stronger than those in normal rats. Different profiles of activity dependence were also observed between injured and adjacent intact dorsal root fibers of neuropathic rats. However, activity-dependent latency changes in sciatic nerves distal to the dorsal root ganglion were not different between neuropathic and normal rats. These results suggest that partial nerve injury induces activity-dependent excitability changes in the dorsal root fibers of neuropathic rat and that these changes may be responsible for the altered sensory processing such as those seen in allodynia.
Single unit responses of the primary somatosensory (SI) cortical neurons to the stimulation of the forepaw single digit were monitored in anesthetized rats before and after subcutaneous injection of lidocaine to an ipsilateral homologous receptive field (IHRF). Quantitative determination of the temporal changes of afferent sensory transmission was done by analyzing poststimulus time histograms of unit responses. Temporary deafferentation to the IHRF induced immediate, but reversible suppression of afferent sensory transmission in the SI cortex and this suppression lasts up to 35 min post-deafferentation period (during 10-15 min, -21.81 +/- 5.9%, P < 0.01). This result suggests that temporary absence of afferent inflow from the digit to the SI cortex may exert interhemispheric modulation of afferent sensory transmission in the opposite somatosensory cortex of anesthetized rats.
A bovine dopamine transporter (bDAT) cDNA was transfected into CV-1 cells, a cell line that lacks vesicular storage and release mechanisms. Using this cell line, the effects of neuroleptic drugs on DAT-mediated uptake and release of dopamine (DA) were examined. All of the neuroleptic drugs tested, inhibited DA uptakes in DAT expressing cells, and most of them were shown to promote spontaneous release of DA at the same time. These results imply that neuroleptic drugs would cause an overflow of DA in the synaptic cleft of extrapyramidal dopaminergic neurons, which could be one of the possible mechanisms of drug-induced tardive dyskinesia.
A rapid and specific method for the detection of pathogenic Leptospira spp. in bovine semen using the polymerase chain reaction (PCR) is described. The primers used were derived from an EcoR1/BamH1 fragment that hybridized strongly to chromosomal DNA from the hardjobovis serovar. Three different extraction methods were evaluated in this study: phenol-chloroform extraction method, proteinase K (PK) in 1% SDS, followed by phenol-chloroform, and phenol-chloroform followed by 1% cetyltrimethylammonium bromide (CTAB). A PCR product of approximately 500 base pairs (bp) in length was obtained when DNA from pure Leptospira culture was used as a template for PCR, regardless of the DNA extraction method used. The product was consistent with that predicted from the gene sequence. However, in semen seeded in vitro, as well as in semen from infected bulls, a PCR product was obtained only when the leptospiral DNA was extracted from the specimen using the CTAB method. In contrast, other methods used for DNA extraction did not generate suitable templates for the PCR procedure. This is the first PCR protocol developed to detect Leptospira in bovine semen. The PCR protocol provided a direct and unequivocal demonstration that Leptospira can be detected in semen of infected animals. The CTAB method was also used successfully in detecting Leptospira in the urine of infected animals. The PCR procedure was shown to be more sensitive than either the fluorescent antibody test (FAT) or culture for detecting the organism in urine.
Intracavitary thrombus is noted in 11-44% of patients with idiopathic delayed cardiomyopathy, and the incidence of embolism is 11-20%. The incidence of intracavitary thrombus formation after acute anterior myocardial infarction is 21-41%. The risk of embolism in all patient with acute anterior myocardial infarction is 2-6%; protruding or mobile thrombi carry a risk of embolization. Systemic anticoagulation is justified in patients with dilated cardiomyopathy (international normalized ratio 2.0-3.0).