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C Seidl

Publications and source records attributed to C Seidl.

At least 55 records · Page 3Linked to original sources
PubMed1997

HLA-DR/DQ/DP interactions in rheumatoid arthritis.

Rheumatoid arthritis (RA) is associated with the presence of particular HLA-DRB1 alleles. In order to characterize HLA-DQB1 and/or-DPB1 alleles that contribute to disease susceptibility besides HLA-DRB1 alleles, we have analysed the HLA-DRB1, -DQB1 and -DPB1 polymorphism in 84 RA patients and 135 controls. HLA typing for HLA-DRB1 and -DQB1 alleles was performed using sequence-specific primers in combination with sequence-based typing. HLA-DPB1 alleles were characterized by reverse dot-blot hybridization. Our data confirm the predominant role of the (Q)R/KRAA sequence from AA position 70-74 of the HLA-DRB chain for disease susceptibility. In particular, the lysine (K) substitution at position 71 was highly significantly associated with RA. Analysis of the DQB1 locus revealed no association with RA when linkage disequilibrium between HLA-DRB1 and -DQB1 alleles was considered. In contrast, we observed an increased frequency of HLA-DPB1*0401 among (Q)R/KRAA-positive patients. (Q)R/KRAA-negative RA patients exhibited an overrepresentation of HLA-DPB1*0201 and HLA-DPB1*0601. Rheumatoid factor (RF) production correlated with the presence of the disease-associated (Q)R/KRAA amino acid cassette of the HLA-DRB chain. When HLA-DPB1 allele frequencies were compared between RF-positive and RF-negative RA patients, we observed an increased frequency of HLA-DPB1*0401 among RF-positive RA patients and HLA-DPB1*0201 among RF-negative patients. These results suggest that besides the predominent role of HLA-DR molecules in RA, HLA-DP molecules may have an influence on disease susceptibility and could modulate disease progression. HLA-DPB1*0401 may function in addition to HLA-DRB1*04, whereas HLA-DPB1*0201 and -DPB1*0601 may represent additional risk factors among (Q)R/KRAA-negative RA patients.

Adult↗
PubMed1997

Sensitive determination of the RhD genotype in mixed samples using fluorescence-based polymerase chain reaction.

OBJECTIVES: Prenatal determination of the fetal RhD status in pregnancies of Rh-negative (Rh-neg) women by polymerase chain reaction (PCR) on DNA has become of increasing importance. Since determination of the RhD genotype in these cases is usually performed in samples containing both maternal Rh-neg and fetal Rh-neg or Rh-positive (Rh-pos) DNA, the sensitivity and specificity of PCR-based DNA detection are of crucial importance in the diagnosis of the fetal RhD status. METHODS: We developed a method for RhD typing using the PCR and a fluorescence-based detection method that allows us to determine RhD-pos DNA even if it is mixed with large amounts of Rh-neg DNA. RESULTS: Using this approach, Rh-pos DNA could be detected in dilutions with Rh-neg DNA of as high as 1 in 10,000 (Rh-pos/Rh-neg). Furthermore PCR amplification could also be carried out on DNA samples from persons with weak (Dweak) or partial (Dcat) RhD antigens. CONCLUSION: This method will be valuable in prenatal RhD typing after amniocentesis or after the isolation of fetal cells from maternal peripheral blood.

Alleles↗
PubMed1997

HLA-DRB1*04 subtypes are associated with increased inflammatory activity in early rheumatoid arthritis.

The sequence polymorphism of HLA-DRB1 molecules in 84 rheumatoid arthritis (RA) patients with early RA has been analysed to evaluate whether particular HLA-DR alleles influence disease progression in the early stage of the disease. Clinical data were analysed by grouping the patients according to disease-associated haplotype combinations (DRB1*04,04/DRB1*04,01/DRB1*04,X/DRB1*01,X) in comparison to patients who did not carry these haplotypes (DRB1*X,X). Our results indicate that patients with early RA who are homozygous for DRB1*04 exhibit an elevated inflammatory activity and an increase of joint affections. In addition, the amino acid polymorphism (QR/KRAA) at position 70-74 seems to affect the production of rheumatoid factors. These results support the role of HLA-DRB1 alleles in the pathogenesis of RA and indicate that patients with particular HLA-DRB1*04 haplotype combinations may require intensified therapeutic interventions in the early stage of the disease to prevent disease progression.

Adult↗
PubMed1997

Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease.

Endocrine autoimmune disorders share susceptibility and resistance factors of the human leukocyte antigen system on the short arm of chromosome 6, but other gene loci also contribute to predisposition and protection. Because the cytotoxic T lymphocyte antigen 4 (CTLA4) alanine-17 encoded by the CTLA4 gene on chromosome 2q33 confers susceptibility to Graves' disease, as well as to type 1 (insulin-dependent) diabetes mellitus, we investigated this dimorphism in the other endocrine autoimmune disorders: Hashimoto's thyroiditis and Addison's disease. We analyzed the CTLA4 exon 1 polymorphism (49 A/G) in 73 patients with Hashimoto's thyroiditis, 76 with Addison's disease, and 466 healthy controls. This dimorphism corresponds to an aminoacid exchange (Thr/Ala) in the leader peptide of the expressed protein. CTLA4 alleles were defined by PCR, single-strand conformational polymorphism analysis, and restriction fragment length polymorphism analysis using BbvI. Patients with Hashimoto's thyroiditis had significantly more Ala alleles than controls, both as homozygotes (22% vs. 15%) and heterozygotes (53% vs. 46%), and less Thr than controls as homozygotes (25% vs. 39%), P < 0.04. The phenotypic frequency for Ala was significantly higher in patients (75%), compared with controls (61%), P < 0.03. Patients with Addison's disease did not differ significantly from controls, but those carrying the suceptibility marker, human leukocyte antigen DQA1*0501, were significantly more CTLA4 Ala17 positive than controls with the same DQA1 allele (P < 0.05). In conclusion, an alanine at codon 17 of CTLA4 confers genetic susceptibility to Hashimoto's thyroiditis, whereas this applies only to the subgroup of DQA1*0501+ patients with Addison's disease.

Abatacept↗
PubMed1997

Development of polyarthritis after insertion of silicone breast implants followed by remission after implant removal in 2 HLA-identical sisters bearing rheumatoid arthritis susceptibility genes.

We describe 2 HLA-identical sisters who both received silicone breast implants and subsequently developed polyarticular arthritis and neurologic symptoms. In both patients, HLA typing revealed 3 alleles typically associated with rheumatic diseases: HLA-DRB1*0405 and HLA-DQB1*0302 (associated with RA), and HLA-DRB4*01 (associated with mixed connective tissue disease and autoimmune reactions in patients with silicone breast implants. After removal of the implants, rheumatic as well as neurologic symptoms improved dramatically in both patients. One patient achieved complete remission. The other patient, who initially had more progressive disease, retained mild residual symptoms, but had significant improvement in radiological erosions. We believe that our cases support the theories that silicone may act as a triggering factor in genetically susceptible individuals, and that silicone may represent an adjuvant for the development of autoimmune disease. We discuss the possibility that a manifested spectrum of symptoms after silicone exposure might be more specific for a patient's genetic background than unique for silicone.

Arthritis, Rheumatoid↗
PubMed1997

[Traumatic thrombosis of the distal ulnar artery (hypothenar hammer syndrome) in a golf player with an accessory muscle loop around Guyon's canal. Case report].

Arteriography of a 34-year-old golf player with M. Raynaud symptoms of his left hand revealed filling defects in the digital arteries II to IV fingers associated with corkscrew-like configuration of the ulnar artery in Guyon's space. The preoperative workup including 50 clinical laboratory tests searching for connective tissue diseases, vasculitis, and haematological disorders was without pathological findings; more central embolic sources were excluded angio- and cardiologically. MRI-scan demonstrated an anomalous muscle at the level of the hamate hook located underneath the M. palmaris brevis forming a sling around the ulnar artery. Surgery showed the ulnar artery distal to the anomalous muscle dilated with fibrotic thickening and intraluminal thrombosis. The involved A. ulnaris segment was resected and an interpositional vein graft performed. Histopathologic sections showed fibrosis of the arterial wall with intraluminal thrombosis and elastica fragmentation indicating traumatic genesis (hypothenar-hammer syndrome). We suspect intensive golf playing with the grip style and repetitive movements leading to pressure injury of the hypothenar area and the underlying ulnar artery. Contraction of the anomalous muscle belly may have additionally compressed the artery slowing down the arterial flow and accelerating the thrombosis.

Adult↗
PubMed1996

[Treatment of watermelon stomach (GAVE syndrome) with endoscopic argon plasma coagulation (APC). A new therapy approach].

The case of a 74-year-old male patient with a watermelon stomach (GAVE-syndrome: gastric antral vascular ectasia) is reported. The superficial annual mucosa showed the characteristic picture of ectatic capillaries, some of them plugged with fibrin thrombi. Anemia due to chronic blood loss had developed in our patient. The vascular lesions of the antral mucosa were treated endoscopically in three sessions with an argon-plasma-coagulation (APC). Three months after completion of therapy the vascular changes of the antral mucosa had resolved almost completely. In addition no further blood loss had occurred. Many treatment modalities of the watermelon stomach abnormality exist. Nowadays, vaporization of the vascular lesions with the Neodym-Yag laser has widely replaced surgical treatment. The argon-plasma-coagulation uses instead of laser energy conduction of electric energy by ionized argon gas (plasma), which produces coagulation necrosis of tissues. The potential advantages of the argon-plasma-coagulation lie in the limited deep penetration, which reduces the risk of perforation and the symmetric spread of the coagulation effects in the surrounding mucosa. These properties make the argon plasma-coagulation a promising tool for the endoscopic therapy of mucosal lesions of the GI-tract. Further attractive is the low cost of the argon-plasma-coagulation equipment compared with laser devices.

Aged↗
PubMed1995

The desire for a son is the father of many daughters: a sex ratio paradox.

"This paper investigates the impact of preferences for male offspring to female offspring upon the sex ratio of the population. Asymmetric procreation behaviour of this kind is modelled by assuming that a female's procreation ceases only after at least one son or n daughters are born. It is shown that such asymmetric procreation behaviour has no effect on the sex ratio of the society, but influences rather the growth rate of the population. Finally, problems concerning the interrelationship between the sex ratio, the pattern of procreation, and the marriage regime in stationary populations are investigated."

Behavior↗
PubMed1992

Genetic complexity of regulatory mutants defective for HLA class II gene expression.

MHC (called HLA in man) class II genes play an essential role in cell-mediated immunity. Absence of HLA class II Ag on B lymphocytes is the basis of some congenital immunodeficiencies (CID). We have studied CID by generating transient heterokaryons from cell lines of such patients, and we report that the mutations fall into four complementation groups. In addition, fusions with the HLA class II deletion mutant 721.180 indicate that the genetic defects for each group in HLA class II expression map outside the HLA class II region. A small HLA-DRA promoter fragment is sufficient to drive expression of a reporter gene in normal B cell lines, but expression from the same construct is clearly reduced in mutant cell lines representative of all four complementation groups. This confirms earlier results that indicate defective transcription of HLA class II genes in the class II- CID mutant cell lines. Analysis of proteins that bind to the DRA promoter in nuclear extracts of the mutants suggests that complexes recognizing distinct elements of the DRA promoter may be quantitatively decreased in different mutants. In addition, we show that nuclear extracts from two groups fail to transcribe a DRA promoter construct in vitro accurately reflecting their DRA- phenotypes. In contrast, nuclear extracts from another mutant, RJ2.2.5, transcribe the DRA construct, albeit at a reduced level. Finally, though cell lines from different groups complement each other in vivo, no complementation was observed by mixing extracts for transcription in vitro.

Base Sequence↗
PubMed1990

[Adjuvant chemotherapy of breast cancer with the CMFV protocol].

Adjuvant CMFV therapy was administered from 1975 to 1984 at the Department of Gynaecology and Obstetrics of the University of Erlangen in 331 patients from a patient population, who underwent an operation with the intention of curing invasive breast cancer. Six cycles of this therapy were administered to 224 women. Only these patients were considered in the evaluation. 538 patients without axillary lymph node metastases and without adjuvant therapy served as reference population. The significance of adjuvant CMFV therapy in relation to the lymph node and menopausal status was investigated in a retrospective analysis. It was shown, that the five-year actual survivals in the group of premenopausal patients with one to three affected lymph nodes and CMFV therapy (n = 60), did not differ significantly from the group of women with premenopausally negative lymph nodes without adjuvant therapy (n = 198) (87.7% versus 88.2%). On the other hand, in the postmenopausal patients, the five-year actual survivals for the corresponding groups were 65.9% and 83.2%, respectively. The difference was significant. The results indicate, that adjuvant CMFV therapy improves the prognosis in premenopausal women, above all in cases with one to three affected lymph nodes. In the postmenopausal patients, a comparable effect could not be demonstrated in this group of patients.

Adult↗
PubMed1989

Stair stepping efficiency of mentally handicapped and nonhandicapped adult females.

Net efficiency for stair stepping was compared between 15 mentally handicapped (MH) and 15 nonhandicapped (NH) women of comparable chronological age. Efficiency was computed as the percentage of the energy output divided by the energy expenditure. Energy expenditure was assessed by the performance of subjects on a double stair stepping apparatus, stepping at three work rates (14, 17, and 19 asc/min), repeated on four test days. Open-circuit spirometric techniques were used to measure oxygen uptake. The three-way (Group x Stepping Rates x Days) repeated measures ANOVA indicated that: (1) NH women stepped more efficiently than MH women (p less than 0.01). Mean stepping efficiency was 17.1% for the NH group, and 15.6% for the MH group; (2) MH women did not show improvement in stepping efficiency over the four days, although there was a 20% increase in the number of MH subjects capable of completing the fastest stepping rate over the four days; and (3) MH subjects were more efficient at 17 and 19 asc/min than at 14 asc/min.

Adult↗