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Biomedical subjects

S Scharf

Publications and source records attributed to S Scharf.

At least 55 records · Page 3Linked to original sources

[Relationship between HLA D region gene and primary Sjögren's syndrome].

Primary Sjögren's syndrome is characterized by lymphocytic infiltration of the salivary and lacrimal glands and by autoantibody production. In order to identify the genetic factors that play a role in the pathogenesis and to predict the progress of the disease we used the restriction fragment length polymorphism and polymerase chain reaction method to detect the polymorphism of HLA-DRB1, DRB3, DQA and DQB genes among 75 Caucasoid primary SS patients, and compared the results with normal controls living in the same area. We found (1) significant increased frequency of HLA-DR3 (54%) and DRw8 (13%) (P less than 0.001); (2) increased frequency of the HLA-DRB3 allele DRw52a and of the HLA-DQA allele DQA 4 (P less than 005); (3) increased frequency of heterozygosity for DQA 1/DQA 4 (P less than 005); (4) autoantibody SSA and SSB associated with DR3 (P less than 002 and P less than 0001 respectively).

Adolescent↗

HLA-DQ beta sequence polymorphism and genetic susceptibility to IDDM.

The analysis of HLA-DQ beta nucleotide sequence polymorphism in insulin-dependent diabetes mellitus (IDDM) patients and control subjects suggests a role for the DQ beta-chain in genetic susceptibility. Sequence determination and oligonucleotide hybridization was carried out on enzymatically amplified DNA from various HLA-DR-typed individuals, including the rare class of DR2+ patients. In the analysis of DQ beta variation in DR4, DRw6, and DR2 haplotypes, a correlation was observed between the presence of the negatively charged residue Asp at position 57 and low susceptibility and the presence of an Ala (DR4), Val (DRw6), or Ser (DR2) and higher susceptibility. However, important exceptions to this pattern have been identified in the analysis of heterozygous DR1/4 IDDM patients. In these individuals, susceptibility appears to correlate with specific DR beta l alleles (Dw4) on the DR4 haplotype, rather than with the DQ beta allele (DQB3.2) that contains Ala at position 57. The DQ beta alleles found in some Chinese IDDM patients also proved discordant with the position-57 correlations. Thus, although there is a general correlation between the residue at position 57 of the DQ beta-chain and IDDM susceptibility, these data do not support the notion that Asp 57 confers complete resistance or protection to IDDM. In general, these results suggest that IDDM susceptibility is conferred by specific combinations of DQ beta and DR beta sequences.

Alleles↗

Leukocyte alkaline phosphatase and carcinoembryonic antigen in breast cancer patients. Influence of the treatment on the markers.

Leukocyte alkaline phosphatase (LAP) scores and carcinoembryonic antigen (CEA) levels were analyzed in 53 patients suffering from breast cancer. All patients underwent mastectomy and received adjuvant treatment, and all lived more than 5 years after diagnosis without metastatic disease. Thirty-three patients received adjuvant radiotherapy, and 20 patients received adjuvant chemotherapy. The median LAP score before radiotherapy was 117 +/- 48; two months after the beginning of radiotherapy this value was 175 +/- 71, being significantly higher than the original value (p less than 0.001), and one year after the beginning of radiotherapy it was 105 +/- 63, which approximated the normal scores. The median LAP score before chemotherapy was 138 +/- 69; two months after the beginning of chemotherapy it was 194 +/- 63, i.e. significantly higher than before chemotherapy (p less than 0.002), and one year after the beginning of chemotherapy it was 150 +/- 56. Median CEA levels before radiotherapy were 6.4 +/- 5.1 ng/ml; two months after the beginning of radiotherapy this value was 6.0 +/- 5.0 ng/ml; and one year later 7.4 +/- 6.2 ng/ml. Median CEA levels before chemotherapy were 8.1 +/- 12.0 ng/ml; two months after the beginning of chemotherapy 12.6 +/- 13.0 ng/ml (p less than 0.05) in comparison with the values before chemotherapy; and one year after the beginning of chemotherapy it was 8.6 +/- 5.4 ng/ml. We concluded that the LAP scores were influenced by adjuvant radio- or chemotherapy, and the CEA levels were influenced by chemotherapy.

Alkaline Phosphatase↗

Leukocyte alkaline phosphatase and carcinoembryonic antigen in breast cancer patients: clinical correlation with the markers.

Leukocyte alkaline phosphatase (LAP) scores in peripheral blood and plasma carcinoembryonic antigen (CEA) levels were determined in 208 breast cancer patients with nonmetastatic disease. Patients were followed until clinical manifestations of metastases appeared. Then the LAP score and CEA level were analyzed in relation to the clinical appearance of metastases. Of the 208 patients studied, 58 developed metastases during the follow-up period. The LAP scores and CEA levels of this group of patients were compared to a control group of 60 breast cancer patients who did not develop metastases. Of the two markers, LAP score seems to be considerably more useful in detecting metastatic disease.

Adult↗

In utero gene transfer and expression: a sheep transplantation model.

Retroviral-mediated gene transfer was used to insert a Neo R gene into fetal sheep hematopoietic cells obtained by exchange transfusion from lambs in utero. After gene transfer the cells were returned to the donor fetus. The lambs were examined after birth for the presence of a functioning Neo R gene. Of ten analyzable animals, six were positive for G418 resistant progenitor cells (CFU-Mix, CFU-C, BFU-E, CFU-E). Two animals were studied for extended periods of time: 8 and 24 months. Each has demonstrated a pattern wherein positive periods are interspersed with times when there were no detectable G418-resistant cells. We conclude that retroviral-mediated gene transfer can be used to insert genes into early progenitor cells of fetal sheep in utero and that the animals can continue to demonstrate blood cells expressing the gene for more than 2 years after birth. This is a US government work. There are no restrictions on its use.

Adenosine Deaminase↗

Cold panniculitis in children (Haxthausen's disease).

This report describes the rarely recognized, but probably quite common, cold panniculitis, which occurs predominantly in infants, as red indurated plaques or nodules on the face, following exposure to severe cold.

Cold Temperature↗

Heavy- and free light-chain myeloma associated with peripheral polyneuropathy.

Peripheral polyneuropathy, a rare complication of multiple myeloma, is generally associated with heavy-chain M-proteins and, in very rare instances, with free light-chain myeloma proteins. Here we describe a case of multiple myeloma and polyneuropathy with both monoclonal IgG and free lambda light chains in the blood. The patient also had free lambda light chains in the cerebrospinal fluid and urine.

Female↗

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Two new methods were used to establish a rapid and highly sensitive prenatal diagnostic test for sickle cell anemia. The first involves the primer-mediated enzymatic amplification of specific beta-globin target sequences in genomic DNA, resulting in the exponential increase (220,000 times) of target DNA copies. In the second technique, the presence of the beta A and beta S alleles is determined by restriction endonuclease digestion of an end-labeled oligonucleotide probe hybridized in solution to the amplified beta-globin sequences. The beta-globin genotype can be determined in less than 1 day on samples containing significantly less than 1 microgram of genomic DNA.

Alleles↗

Lack of amnestic effects of clorazepate on geriatric recall.

Significant amnestic effects in young adults have been found with the short-acting sedative-hypnotic triazolam and the intermediate-acting lorazepam, but not with the longer-acting clorazepate. The effects of placebo and clorazepate 3.75 and 7.5 mg were compared in 43 nonanxious geriatric subjects. Results were consistent with earlier studies, and no significant impairment of immediate or delayed recall was found.

Aged↗

An acyl-thioesterase from yeast mitochondria.

A previously unstudied acyl-coenzyme A thioesterase activity has been demonstrated in submitochondrial particles from Saccharomyces cerevisiae. The preferred substrate for the enzyme activity is oleoyl-coenzyme A. Tests with inhibitors of the thioesterase showed that, in addition to common thiol inhibitors, the oxidative phosphorylation inhibitors oligomycin and venturicidin also blocked thioesterase activity. Purification of the enzyme catalyzing this activity revealed that thioesterase copurified with mitochondrial ATPase. When thioesterase was isolated from oxidative phosphorylation mutants selected for resistance to these two inhibitors, thioesterase activity was also resistant. The results suggest that thioester hydrolysis may be catalyzed by components associated with the isolated ATPase complex. Further attempts to link this activity to in vivo function of ATPase were not successful.

Ethylmaleimide↗

Applications of nuclear medicine in genitourinary imaging.

Major advances in nuclear medicine instrumentation and radiopharmaceuticals for renal studies have occurred during the last decade. Current nuclear medicine methodology can be applied for accurate evaluation of renal function and for renal imaging in a wide variety of clinical situations. Total renal function can be estimated from the plasma clearance of agents excreted by glomerular filtration or tubular secretion, and individual function can be estimated by imaging combined with renography. A major area of radionuclide application is in the evaluation of obstructive uropathy. The introduction of diuretic renography and the use of computer-generated regions of interest offer the clinician added useful data which may aid in diagnosis and management. Imaging is of proven value also in trauma, renovascular hypertension, and acute and chronic renal failure. Methods for the evaluation of residual urine, vesicoureteral reflux, and testicular torsion have achieved increasing clinical use. These many procedures assure a meaningful and useful role for the application of nuclear medicine in genitourinary imaging.

Adult↗