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Biomedical subjects

J Kang

Publications and source records attributed to J Kang.

At least 289 records · Page 16Linked to original sources

Homozygous deletion of a DNA marker from chromosome 11p13 in sporadic Wilms tumor.

A random DNA fragment, probe p2.3 (locus D11S87), was cloned from the 11p13 region between a translocation breakpoint associated with familial aniridia and another translocation breakpoint associated with childhood T-cell leukemia. The D11S87 locus maps between the catalase (CAT) locus and the beta subunit of follicle stimulating hormone (FSHB). The D11S87 locus is deleted in a Wilms tumor patient with a constitutional deletion of 11p and in a case of sporadic Wilms tumor (WiT-13) apparently with normal karyotype. In the WiT-13 tumor both maternal and paternal chromosomes 11 are retained; D11S87 is deleted homozygously and FSHB hemizygously. These results suggest two mutational events resulting in homozygous deletion in this patient. The D11S87 homozygous deletion was also demonstrated in WiT-13 nude mouse heterotransplants and in fibroblast-like cell line derived from the primary tumor. The minimum size of the deletion was estimated to be 30 kb as determined by cosmid screening and hybridization. As homozygous deletions in the 11p13 region have not been previously reported for sporadic Wilms tumors, these findings place the D11S87 locus within or approximate to the Wilms tumor gene.

Blotting, Southern↗

Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China.

We have studied the spectrum of mutations producting beta-thalassaemia intermedia in South China. The methods of mutation detection include oligonucleotide analysis, polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing. The mutations have been identified in 22 beta-globin genes from the patients in 11 unrelated families. Seven different mutations have been identified and the A to G substitution in the TATA box of the beta-globin gene accounts for 42% of these mutant beta-globin genes. Most patients have a beta(+) thalassaemia and one copy of the TATA box mutation. In two patients with beta(0) thalassaemia intermedia the mild phenotype may be explained in one by the presence of the - + - + + 5' beta-globin gene cluster haplotype which contains the Xmn I site -158 nt to the G gamma-globin gene or in the other by the number of alpha-globin genes present.

Base Sequence↗

Tear urea nitrogen and creatinine levels in renal patients.

Tear and blood urea nitrogen, creatinine, and glucose levels were quantitatively analyzed by an enzymatic method in 30 normal patients and in 10 patients with end stage renal disease. The tear and blood samples collected from the end stage renal patients before and after hemodialysis showed that the change in urea nitrogen and creatinine levels in the tears correlated with the change in blood urea nitrogen and creatinine. Tear samples may serve as an alternative, less invasive indicator of serum metabolites in renal patients.

Adolescent↗

In vivo ethane production in vitamin E-deficient rats with DMH-induced colon cancer.

The effect of both a vitamin E-deficient and a high polyunsaturated fat (PUFA) diet was tested on rats injected with the colon carcinogen 1,2-dimethylhydrazine (DMH). In vivo lipid peroxidation was monitored by measuring exhaled ethane from the animals. Higher mean weights were found in animals fed high PUFA and vitamin E-sufficient diets. There was no difference in ethane exhalation between DMH-treated and control animals regardless of diet. Mean ethane exhalation was highest in animals fed either vitamin E-deficient or high PUFA diets. There was no difference in tumor formation between the vitamin E-deficient and the vitamin E-sufficient groups. The high PUFA groups had more tumors than the low PUFA groups. Diet was shown to be the major factor affecting ethane exhalation. There was no evidence that vitamin E-deficiency promoted DMH-induced tumors or that DMH caused increased lipid peroxidation.

1,2-Dimethylhydrazine↗

Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia.

We have studied the spectrum of mutations producing beta-thalassemia (beta-thal) in South China and Southeast Asia in two groups of patients. In randomly selected patients with beta-thal major we characterized 78 beta-thal genes. In patients with beta-thal intermedia, 22 beta-thal genes were studied. The relevant mutation was characterized in all 78 genes of the first group, and 21 of 22 (96%) of mutant genes in the second group. Eight point mutations were found among the 100 genes studied. Of these eight alleles, four constituted 90% of the total. Prenatal diagnosis of beta-thalassemia in this region should be feasible by simplified techniques for direct detection of point mutations.

Asia, Southeastern↗

A highly sensitive immunoenzymometric assay involving "common-capture" particles and membrane filtration.

This highly sensitive immunoenzymometric method involves monoclonal antibodies, a common-capture microsphere, and a rapid, membrane-filtration separation step. The common-capture solid phase is monoclonal anti-fluorescein antibody convalently attached to 6.5 micron-diameter latex particles. In sandwich-type assays for large-molecule analytes, the capture antibody is conjugated with fluorescein isothiocyanate and the probe antibody is conjugated with beta-galactosidase (EC 3.2.1.23). In competitive assays for small analytes, the analyte-beta-galactosidase conjugate competes with the analyte in the clinical samples for the fluoresceinated capture antibody. After simultaneous incubation of the reagents for 2 h, the bound and unbound reagents are separated by filtration through the bottom of each well of a 96-well plate. Substrate (4-methylumbelliferyl-beta-D-galactopyranoside) is then added to the wells, and the rate of product formation is determined kinetically for 12 min. The rate is proportional to the concentration of analyte in the sandwich assays and inversely proportional in the competitive assays. The assay results for choriogonadotropin, thyrotropin, digoxin, and thyroxin show the assay to be sensitive, rapid, and applicable to any size analyte. With this system, several different sandwich and (or) competitive-type assays can be performed simultaneously on the same plate.

Antibodies, Monoclonal↗

Improvements in dehydration and cement line staining for methacrylate embedded human bone biopsies.

Undemineralized methacrylate embedded bone biopsies and other bone specimens can be processed much more rapidly by application of acidified 2,2-dimethoxypropane (DMP) dehydration, which requires two hours, than by traditional graded ethanol dehydration, which requires at least four days. This shortened processing time is valuable when biopsy results are urgently needed to detect osteomalacia or to determine bone features prior to possible parathyroidectomy. We have processed over 200 bone specimens with DMP and have compared DMP dehydration to graded ethanol dehydration in 11 biopsies in which two plugs were available from the same patient. DMP dehydration does not compromise the following: tetracycline retention, Goldner's stain, acid phosphatase localization or histochemical identification of aluminum. Cement lines, which provide a record of past remodelling, are useful in clinical interpretation of bone biopsies. We have adapted two stains, toluidine blue and methylene blue/basic fuchsin, for improved cement line identification. Five-micrometer sections individually demineralized in acetate buffer prior to cement line staining show best results with toluidine blue at pH 5.5 and with methylene blue/basic fuchsin at pH 2.5-3.5.

Acrylates↗

The Guillain-Barré syndrome: clinical and electroneuromyographic studies.

Clinical and electrophysiological studies were carried out on 39 patients with the Guillain-Barré syndrome to evaluate which elements were of prognostic value during the acute phase. Residual clinical signs such as motor weakness and absent patellar tendon reflexes were found in 16 (52%) of those patients who had had a preceding illness. Persistence of deficit was significantly correlated to age at onset, the degree of quadriparesis and loss of deep sensation in the acute phase. Of the 10 patients who showed a reduction in motor nerve conduction velocity (MCV) in the early stage, 8 (80%) revealed significantly residual clinical symptoms at follow-up. There was a tendency for the incidence of residual signs to be more common in the patients with slowing of mixed nerve conduction velocity, and prolonged latency of H-wave and the residual latency. Nerve conduction studies, especially measurement of MCV, were of value as a reliable prognostic indicator in this syndrome.

Adolescent↗

Thyrotoxic myopathy associated with subacute thyroiditis.

We report a case of subacute thyroiditis complicated by thyrotoxic myopathy. Previously thyrotoxic myopathy has been described as being associated with Graves' disease. The patient in this study was a 35-year-old man who developed proximal dominant muscular weakness and atrophy during the course of subacute thyroiditis. His myopathic symptoms regressed as his serum thyroxine and triiodothyronine levels returned to normal, however it took a relatively long period of time for them to do so. This suggests that marked myopathy may develop even in cases of subacute thyroiditis if the thyrotoxic state persists for a long period of time.

Adult↗

Metabolic basis of improved exercise tolerance: muscle phosphorylase deficiency after glucagon administration.

A 26-year-old girl with muscle phosphorylase deficiency had exercise intolerance and experienced an occasional "second wind" phenomenon. Muscle glycogen concentration was about three times the normal level, whereas each glycolytic intermediate below the phosphorylase step was equivalent to only 10% of a normal level. Semi-ischemic forearm exercise tests disclosed no elevation of the venous lactate or pyruvate level, but they showed remarkable increases of serum creatine kinase and ammonia. Glucagon administration markedly augmented exercise tolerance. Forearm exercise after glucagon injection significantly increased venous lactate. Thus, the beneficial effect of glucagon is attributable to blood glucose utilization by muscle.

Adult↗

Serum mitochondrial aspartate aminotransferase in patients with polymyositis.

The clinical significance of serum aspartate aminotransferase (GOT) isozymes was studied in 18 patients with polymyositis. Abnormally high levels of mitochondrial GOT (mGOT) (6.2 +/- 1.2 IU/L, mean +/- SEM; normal, less than 2.0 IU/L) and cytosol GOT (sGOT) (95 +/- 21.6 IU/L; normal, less than 25 IU/L) were observed in sera. In polymyositic muscles, the sGOT level was significantly decreased but mGOT was not. The levels of serum sGOT and mGOT and the ratio of mGOT/tGOT before corticosteroid therapy correlated well with the severity of muscle weakness. Serial determination of CPK, sGOT, and mGOT during corticosteroid therapy revealed that mGOT most rapidly returned to normal. Exercise did not increase serum mGOT in polymyositis.

Adrenal Cortex Hormones↗