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Biomedical subjects

C C Lee

Publications and source records attributed to C C Lee.

At least 253 records · Page 14Linked to original sources
PubMed1997

Genetic variations of the apo E-CI-CII cluster gene in Koreans.

OBJECTIVES: To investigate the allele frequencies of the apolipoprotein (apo) E-CI-CII cluster gene in Koreans, and its relation to plasma lipid and lipoprotein levels. METHODS: The study subjects consisted of healthy Korean individuals (apo E, 145; apo CI and CII, 81) who were randomly selected via health screening. For polymorphism analysis, DNA was amplified by polymerase chain reaction (PCR). The one-way analysis of variance (ANOVA) test was performed to compare the mean of lipid levels among different genotypes. RESULTS: The apo E polymorphism in the Korean population appeared as the E4/2, E3/2, E3/3, E4/3, and E4/4 genotypes. The epsilon 3 allele was the most frequent, as in other populations. The apo E polymorphism showed the lack of association with plasma lipid levels in this population. On the other hand, we demonstrated AvaII polymorphism of the apo CII gene by PCR technique. Cholesterol and triglyceride levels were varied significantly among the AvaII genotypes (p < 0.05). CONCLUSION: No effect of the apo E allele on lipid levels was seen in the Korean population. This result suggests that it might be one of the factors in explaining the low prevalence rate of atherosclerosis in the Korean population. Also, the AvaII polymorphism analysis by PCR is a simple and less time-consuming method.

Apolipoprotein C-I↗
PubMed1997

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with late onset ataxia had alleles with larger repeat numbers (21-27) compared to the number of repeats (4-16) in 475 non-ataxia individuals. Analysis of the repeat length in families of the affected individuals revealed that the expansion segregated with the phenotype in every patient. We identified six isoforms of the human alpha 1A calcium channel subunit. The CAG repeat is within the open reading frame and is predicted to encode glutamine in three of the isoforms. We conclude that a small polyglutamine expansion in the human alpha 1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.

Alleles↗
PubMed1997

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.

Smith-Magenis syndrome (SMS), caused by del(17)p11.2, represents one of the most frequently observed human microdeletion syndromes. We have identified three copies of a low-copy-number repeat (SMS-REPs) located within and flanking the SMS common deletion region and show that SMS-REP represents a repeated gene cluster. We have isolated a corresponding cDNA clone that identifies a novel junction fragment from 29 unrelated SMS patients and a different-sized junction fragment from a patient with dup(17)p11.2. Our results suggest that homologous recombination of a flanking repeat gene cluster is a mechanism for this common microdeletion syndrome.

Abnormalities, Multiple↗
PubMed1997

Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis.

Three members of a Taiwanese kindred developed severe, systemic, early onset (< age 25 years), biopsy-proven amyloidosis. Clinical features included upper and lower extremity sensorimotor neuropathy, abdominal pain, vomiting, corneal ulcerations, cardiomyopathy, and syncope. Immunohistochemical analysis indicated that the deposits consisted of transthyretin. Molecular genetic studies revealed a heterozygous codon 55 point mutation, resulting in a proline for leucine-substitution, a mutation previously associated with aggressive familial amyloidosis in a US kindred of Dutch and German descent. The clinical courses and echocardiographic findings are typical for many types of amyloidosis; the pathologic data and genetic studies were necessary to establish a precise diagnosis.

Adult↗
PubMed1997

Reversibility and apoptosis in rat urinary bladder papillomatosis induced by uracil.

Apoptosis is a morphologically and biochemically distinct form of cell death which determines specific patterns of tissue size and shape and balances cell proliferation. In the present study, the sequence of cellular proliferative alterations in urinary bladder epithelium associated with uracil-induced reversible urinary calculi was investigated in male F344 rats. Group 1 consisted of 45 rats, 6 weeks old at commencement of the experiment, which were given a diet containing 3% uracil for 8 weeks and were then returned to basal diet until week 20. Five rats were killed at each of weeks 2, 4, 8, 9, 10, 11, 12, 14 and 20. Group 2 consisted of 15 rats which were given basal diet for 20 weeks. Five rats were killed at each of weeks 0, 8 and 20. Microscopic, reversible papillomatosis, which showed papillary projections of epithelial proliferation, was seen in the urinary bladder of all rats in group 1 through week 8. No epithelial lesions were apparent in any of rats in group 2. Anti-Le(y)(BM-1/JIMRO)-positive areas of the urinary bladder epithelia were immunohistochemically seen in all rats of group 1 at weeks 2-12. At week 9 the percentage of anti-Le(y)-positive areas reached a maximum. Nick-end labeling stained nuclei of cells in the urinary bladder epithelium were observed in all rats of group 1 at weeks 4-14. At week 10 the labeling index was at a maximum. Proliferating cell nuclear antigen (PCNA)- and cyclin D1-positive cells of the urinary bladder epithelium were observed in group 1 at weeks 2, 4 and 8, however, at week 9 there were no PCNA- and cyclin D1-positive cells. In urinary bladder papillomatosis the simultaneous existence of apoptotic cells and proliferating cells was shown by double staining with anti-Le(y) (BM-1/JIMRO) and for PCNA. At week 10 apoptosis, stained by BM-1 and nick-end labeling, occurred extensively in regressing urinary bladder papillomatosis. Agarose gel electrophoresis of DNA in regressing papillomatosis at week 9 showed DNA fragmentation. Thus, these results indicate that apoptosis occurs in the process of papilloma regression following withdrawal of uracil treatment.

Animals↗
PubMed1997

Genetic variation of the angiotensin-converting enzyme gene: increased frequency of the insertion allele in Koreans.

In view of the clinical importance of angiotensin-converting enzyme (ACE) as a major marker for cardiovascular diseases, we investigated insertion/deletion (I/D) polymorphism of the ACE gene in Koreans. Genotype frequencies were examined by polymerase chain reaction in 171 patients with coronary artery disease (CAD) and 120 healthy subjects. Allele frequencies of ACE polymorphism in Koreans were not significantly different between patient and control groups. In addition, association between ACE genotypes and the number of stenosed coronary arteries was not detected. ACE genotypes in the CAD group were not associated with body mass index and plasma lipid levels. Thus, our results suggest that, at least in Koreans, I/D polymorphism of the gene is unlikely to be a useful marker for CAD subjects. However, the I allele frequency of Koreans (0.58) was higher than that of Caucasian populations (0.47) but lower than that of Samoan (0.91) and Yanomami (0.85) populations. Here, we discuss the clinical and ethnic importance of ACE polymorphism.

Aged↗
PubMed1997

Extension of a numerical algorithm to proton dose calculations. I. Comparisons with Monte Carlo simulations.

A numerical algorithm originally developed for electron dose calculations [Med. Phys. 21, 1591 (1994)] has been modified for use with proton beams. The algorithm recursively propagates the proton distribution in energy, angle, and space from one level in an absorbing medium to another at slightly greater depth until all protons stop. Vavilov's theory is used to predict, at any point in the absorber, the broadening of the primary proton energy-spectrum. Moliere's theory is applied to describe the angular distribution, and it is shown that the Gaussian first term of Moliere's series expansion is of sufficient accuracy for dose calculations. These multiple scattering and energy loss distributions are sampled using equal probability spacing to optimize computational speed while maintaining calculational accuracy. Inelastic nuclear collisions along the proton trajectories are modeled by a simple exponential extinction. Predictions of the algorithm for absolute dose deposition by a 160 MeV initially monoenergetic proton beam are compared with the results of Monte Carlo simulations performed with the PTRAN code. The excellent level of agreement between the results of these two methods of dose calculation (< 5% dose and < 3 mm spatial deviations) demonstrate that dose deposition from proton beams may be computed to high accuracy using this algorithm without the need for extensive empirical measurement as input.

Algorithms↗
PubMed1997

Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

We report on the prenatal diagnosis of a case of cebocephaly, alobar holoprosencephaly, and microcephaly associated with a de novo proximal interstitial deletion of the long arm of chromosome 14: del(14)(q13q21.1) or (q13q21.2). This is the third case of holoprosencephaly in association with a deletion in this region. The present report concerns the association between prenatal craniofacial development, a holoprosencephaly locus, and the chromosomal segment 14q13.

Abnormalities, Multiple↗
PubMed1997

Production of hepatocyte growth factor is increased in chronic renal failure.

Hepatocyte growth factor (HGF) facilitates recovery from tissue injuries. We previously reported that serum HGF levels were elevated in chronic renal failure (CRF) patients. In the present study Western blot analysis of CRF patients' sera showed the majority of their serum HGF was a single-chain precursor molecule. In CRF rats developed by 5/6 nephrectomy or high adenine diet, both HGF mRNA expression levels and tissue HGF concentrations were increased in liver and spleen. The results suggest that HGF production increases in CRF, which may be a response to chronic progressive renal injuries in an endocrine manner.

Adult↗
PubMed1997

Assessment of dialysis adequacy using the dialysate urea monitor: preliminary experience of the dialysate urea monitor.

Numerous studies have identified a strong linkage between the delivered dialysis dose (Kt/V) and the survival of hemodialysis (HD) patients. However, the current method used to calculate Kt/V requires multiple blood samples and the process is complex and time consuming. We evaluate the performance of a recently developed on-line monitor (Biostat 1000 dialysate urea monitor, Baxter) that measures the urea concentration in the effluent dialysate and displays Kt/V and nPCR immediately after hemodialysis. To verify the performance of the urea monitor, we selected 21 hemodialysis patients, calculated their Kt/V and nPCR values from blood samples obtained during each hemodialysis, and compared the results with data obtained using the urea monitor. The Kt/V and nPCR values calculated by the urea monitor were both significantly correlated with those obtained using blood samples (R = 0.804, p < 0.001 in Kt/V and R = 0.749, p < 0.001 in nPCR). Our results suggest that the urea monitor may be used for on-line assessment of dialysis adequacy and obviates the need for blood sampling.

Blood Urea Nitrogen↗
PubMed1997

Association between genetic variations of apo AI-CIII-AIV cluster gene and hypertriglyceridemic subjects.

Several studies have suggested that genetic variations of the apolipoprotein (apo) AI-CIII-AIV cluster gene are associated with hyperlipidemia or atherosclerosis. These investigations were carried out mainly with Caucasian groups; there have been few associated studies involving non-Caucasian groups. This study was conducted to elucidate the association between five restriction fragment length polymorphisms (RFLPs) of the apo AI-CIII-AIV cluster gene and Korean hypertriglyceridemic subjects. The rare allele frequencies of the XmnI and SstI polymorphic sites in the patients were significantly higher than those of the control group (P <0.05). These two polymorphic sites had relation to linkage disequilibrium in the hypertriglyceridemic subjects (delta = -0.2733). In addition, S2 allele frequency of the SstI RFLP in Koreans was more frequent than that of Caucasians reported previously. The rare allele of XmnI and SstI polymorphic sites was associated with increased triglyceride concentrations in the hypertriglyceridemic group (P <0.005). Koreans have a much lower prevalence of hyperlipidemia than Caucasians. Nevertheless, this study showed a similar trend with results from Caucasian groups, thereby confirming that genetic variations of the apo AI-CIII-AIV cluster gene are likely to be significant markers for hypertriglyceridemic subjects. Thus, RFLP loci of the apo AI-CIII-AIV cluster gene may be a useful genetic marker for clinical or population studies.

Adult↗
PubMed1997

Rapid spongiform degeneration of the cerebrum and cerebellum in Creutzfeldt-Jakob encephalitis: serial MR findings.

We report the cerebral MR imaging findings in a patient with pathologically proved Creutzfeldt-Jakob disease in whom predominant gray and white matter degeneration was seen within 1 year of symptom onset. The initial MR signal abnormalities in the basal ganglia were subtle. A follow-up MR examination revealed diffuse cerebral and cerebellar atrophy and demyelination.

Atrophy↗
PubMed1997

Prenatal diagnosis of a deletion of 18q in a fetus associated with multiple-marker screen positive results.

We report here the observations of positive maternal serum screening tests for Down syndrome, cytogenetic and molecular analysis, and dysmorphic fetal features in a pregnancy with 18q-syndrome. A 33-year-old primigravida was referred for genetic counselling because of multiple-marker screen positive results. At 14 weeks' gestation, the woman had a Down syndrome risk of 1:107 calculated from a maternal serum alpha-fetoprotein (MSAFP) level of 1.49 multiples of the median (MOM), a total human chorionic gonadotrophin (hCG) level of 2.42 MOM, and a serum unconjugated oestriol (uE3) level of 0.55 MOM. At 17 weeks' gestation, a repeat test showed a Down syndrome risk of 1:10 calculated from an MSAFP level of 1.09 MOM and a free beta-hCG level of 12.3 MOM. Genetic amniocentesis revealed a de novo deletion of 18q22.2-qter. Intrauterine fetal death occurred at 21 weeks' gestation. At birth, the fetus manifested clinical findings of the 18q-syndrome. The phenotype was correlated with the extent of the deletion. Linkage analysis of the family confirmed the extent and paternal origin of the deletion.

Adult↗
PubMed1997

Comparison of epidural butorphanol plus clonidine with butorphanol alone for postoperative pain relief.

BACKGROUND: Epidural butorphanol has been shown to produce effective analgesia with less side effects than that of morphine but relatively short duration. Clonidine, an alpha 2-adrenergic agonist, has been reported to provide [corrected] pain relief by epidural administration. Furthermore, epidural clonidine has been shown to potentiate the analgesic effect of epidural morphine. The present study was undertaken to evaluate the analgesic and side effects of epidural administration (Ep) of butorphanol and clonidine. METHODS: After giving their consents, 60 adult patients scheduled for abdominal surgeries were enrolled in this study. Prior to anesthesia induction, indwelling lumbar epidural catheters were placed in all patients who then received general anesthesia with inhalation anesthetic without narcotic analgesics. In the postoperative period, when the patients first complained of pain, they were divided into 2 equal groups of 30 patients each in a randomized and double blinded fashion with Group I receiving Ep butorphanol 0.5 mg and Group II receiving Ep butorphanol 0.5 mg plus clonidine 75 micrograms. All patients were observed for pain relief, sedation, vital signs, arterial blood gas studies and adverse effects for 12 h. RESULTS: Onset of pain relief with epidural butorphanol began at 5 min and peaked at 20-30 min with a duration of action lasting 4-6 h. The combination of butorphanol and clonidine had numerically superior pain relief than that of butorphanol for the first 30 min but it did not attain statistical significant difference. The duration of action with the combination group was similar to that of butorphanol alone. Incidence of adverse effects were similar in both groups except that hypotension and more pronounced sedation were observed in Group II. CONCLUSIONS: Our study showed that the addition of clonidine to epidural butorphanol did not enhance its analgesic effect in any significant manner nor did it reduce the adverse effects. This combination does not seem to offer any advantage for clinical use.

Adrenergic alpha-Agonists↗
PubMed1997

Intermittent bolus versus patient-controlled epidural morphine for postoperative analgesia.

BACKGROUND: Patient-controlled epidural analgesia (PCEA) is a technique that combines the flexibility and convenience of PCA with the intrinsic analgesic efficacy of epidurally administered opioids. The aim of this study is to compare the analgesic and side effects of intermittent bolus injections of epidural morphine with PCEA using morphine during the first 24 h after elective low abdominal surgery. METHODS: Sixty patients were randomly assigned into two groups. Patients in group I (n = 30) received 3 mg epidural morphine at an 8-hour interval after surgery. Patients in group II (n = 30) received 2 mg epidural morphine after surgery and patient-controlled analgesia device was processed to deliver morphine 0.15 mg/h, 0.15 mg/bolus. All patients were observed for pain relief and adverse effects for 24 h. RESULTS: Mean morphine consumption was 9 mg for epidural morphine group and 6.87 +/- 0.27 mg for PCEA group. Although the PCEA group utilized significantly less morphine (p < 0.05), pain and sedation scores were similar in the two groups. Pruritus occurred more frequently in the epidural morphine group (63%) than in the PCEA group (33%). Frequency and severity of nausea and vomiting were similar in the two groups. CONCLUSIONS: PCEA with morphine decreases morphine consumption and with less adverse effects than intermittent bolus of epidural morphine. PCEA with morphine is an acceptable alternative to epidural morphine after low abdominal surgery.

Analgesia, Epidural↗
PubMed1997

Retention of broken central venous catheters in pulmonary artery and inferior vena cava--a case report.

Central venous catheterization (CVC) has become an important maneuver both for measuring the central venous pressure and for carrying out long-term intravenous alimentation. Furthermore, a central vein may be needed for the rapid restoration of blood volume in condition of acute hemorrhage with difficulties establishing of a peripheral cannulation. However, complications related to either the venipuncture or the presence of catheters in the central venous system were reported. The case we reported here had two ruptured catheter fragments retained in the great vessels, one in the right subclavian vein and the other one in the femoral vein during CVC. They migrated to the pulmonary artery and inferior vena cava, and were finally removed through open sternotomy with pulmonary arteriotomy and exploration of common iliac vein two weeks later. This was an unusual and possibly fatal complication.

Adult↗