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Biomedical subjects

T Neumann

Publications and source records attributed to T Neumann.

At least 19 recordsLinked to original sources

Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families.

In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. Novel informative sequence variants of CFTR were detected in front of exons 10 (1525-61 A or G), 19 (3601-65 C or A), and 21 (4006-200 A or G). The CF locus exhibits strong long-range marker-marker linkage disequilibrium with breakpoints of recombination between XV-2c and KM.19, and between exons 10 and 19 of CFTR. Marker alleles of GATT-TUB9 and TUB18-TUB20 were found to be in absolute linkage disequilibrium. Four major haplotypes encompass more than 90% of German N and CF chromosomes. Fifteen CFTR mutations detected on 421 out of 500 CF chromosomes were each identified on one of these four predominant 7-marker haplotypes. Whereas all analysed delta F508 chromosomes carried the same KM.19-D9-J44-GATT-TUB9-M470V-T854T haplotype, another frequent mutation in Germany, R553X, was identified on two different major haplotypes. Hence, a priori haplotyping cannot exclude a particular CF mutation, but in combination with population genetic data, enables mutations to be ranked by decreasing probability.

Alleles

Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.

Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discovered in a pancreas-insufficient patient with cystic fibrosis (CF) who displayed an uncommon combination of almost normal chloride concentration in sweat tests and typical symptoms of gastrointestinal and pulmonary disease. The R553Q mutation was found on the maternal delta F508-CFTR gene. Codon 553 is located within a consensus motif of the ATP-binding cassette transport proteins at a less conserved position. Other members of this protein superfamily contain a glutamine instead of arginine at the homologous position, suggesting a modulating rather than disease-causing role of the R553Q mutation in CFTR. The amplification refractory mutation system did not detect the R553Q mutation in a further 65 normal, 113 delta F508, and 91 non-delta F508 CF chromosomes. The index case carried the R553X nonsense mutation on the paternal chromosome. The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2. The location of R553X on separate haplotypes including both alleles of the intragenic GATT repeat suggests an ancient and/or multiple origins of the R553X mutations. The association of the genotype of the CFTR mutation and the clinical phenotype was assessed for the patients carrying the related genotypes delta F508/delta F508 (n = 80), delta F508/R553X (n = 9) and delta F508-R553Q/R553X (n = 1). In compound heterozygotes, the median chloride concentration in pilocarpine iontophoresis sweat tests was significantly lower than in the delta F508 homozygotes (P less than 0.01). The patient groups were significantly different with respect to the distributions of the centiles for height (P less than 0.001) and weight (P less than 0.01) as the most sensitive predictors of the course and prognosis in CF. Growth retardation was more pronounced in the compound heterozygotes.

Amino Acid Sequence

[The correlation of duplex sonography and intra-arterial DSA in degenerative vascular diseases in the supra-aortic region].

In 46 patients the common and internal carotid artery were examined by duplex sonography and intraarterial DSA in a prospective study. A correlation of 80% was found in diagnosis and degree of the pathological changes. Small lesions of the vessels are more exactly demonstrated by duplex sonography. In subtotal stenosis duplex sonography is inferior to angiography.

Adult

[Experiences in emergency bedside and ambulatory ultrasonography].

A retrospective study of 147 emergency sonographic examinations performed at our department between March 1989 and February 1990 showed a good agreement with operation results, autopsies respectively punctures. Several cases were discussed. The obtained relevance of therapy of about 75% emphasizes the demand that sonography must be the method of first choice in emergency diagnostic.

Adolescent

[Control of the Pharaoh's ant with borax bait formulations].

Results are given for the experimental control of Pharaoh ants, Monomorium pharaonis L., with persistent borax baits in the laboratory and the field. DYBH-bait formulations with about 17 per cent borax are very attractive and have a good effectivity. In 5 different objects infested with this ant eradication was proved to be possible with this experimental formulations. The progress of eradication depends essentially on the good organisational preparation of control measures.

Animals

[Diagnostic imaging of pancreatic cancer].

Despite the multitude of the imaging procedures which are nowadays at our disposal the diagnostics of the carcinoma of the pancreas and particularly of the early carcinoma is now as ever difficult. On the basis of a multicentric team study about the diagnostic course in 62 patients with diagnosed carcinoma of the pancreas we conclude to an effective diagnostic proceeding. Hereby a broad use of the ultrasound diagnostics is to be demanded and the bioptic clarification of focal findings is early to be carried out. With the help of the serial CT the differentiation between chronic pancreatitis and carcinoma of the pancreas finds particular consideration, it was successful with a reliability of 84%.

Biopsy, Needle

Influence of diltiazem on postischemic microcirculation and function in the rat kidney.

Renal microcirculation and function were studied in the unilateral clamp-induced ischemia/reperfusion model in anesthetized rats. After 60-min reperfusion fluorochromelabeled globulin was injected i.v. allowing histological determination of capillary plasma flow patterns (CPFP). In the 60-min ischemia protocol the untreated group revealed poor capillary labeling in the outer medulla (OM), whereas cortical perfusion patterns were only slightly altered. Pre- and postischemic treatment with diltiazem led to significant improvement of CPFP in the OM: 4.9% of tissue areas were lying more than 60 microns from the next perfused capillary vs 70.2% after untreated ischemia. Postischemic treatment with diltiazem proved much less effective. Inulin clearance (CIn) amounted to less than 2% of baseline values irrespective of the treatment regimen. However, in the 30-min ischemia protocol, displaying normal CPFP, preservation of CIn was evident and most effective after pre- and postischemic diltiazem treatment (53% vs 8% after untreated ischemia). Measurements of tubular function, however, did not reveal any significant improvement after diltiazem treatment. This observation and the fact that the drugs has a vasodilating effect lend support to the view that the preservation of glomerular filtration rate (GFR) is most likely mediated by vascular mechanisms. In conclusion, in this experimental model diltiazem significantly reduced postischemic disturbances of renal microcirculation occurring after prolonged periods of ischemia and was clearly efficient in maintaining GFR after shorter ischemic episodes; however, tubular function was not preserved. Our results, as well as those of other authors, strongly suggest that diltiazem causes the aforementioned effects mainly by actions at the vascular site.

Animals

[Diagnostic strategy in pancreatic tumors].

In 62 patients with proven pancreatic tumours in a joint retrospective study the sequence of diagnostic imaging methods was analysed. Their diagnostic value was evaluated according to their contribution to final diagnosis and a diagnostic strategy was derived. A valuable primary investigation is sonography. It should be complemented, according to the specific question, by ERCP, PTC and CT. The investigation with barium meal is a complementing method for the differentiation of epigastric disorders. Biopsy of the tumour for histologic purposes should be done as early as possible. A first guiding diagnosis was obtained with ultrasound in 50% of the cases, in 53% of them already with the first examination. In 23% of the patients, however, the final diagnosis was established not before surgery or dissection.

Cholangiopancreatography, Endoscopic Retrograde

[Value of computerized tomography and ultrasonic diagnosis in acute pancreatitis].

While the diagnosis of the acute pancreatitis is now as ever made clinically, the significance of ultrasound and computed tomography (CT) lies above all in the demonstration of morphologic changes and their extent. When the statements of the ultrasonic diagnosis are sufficient in easy stages of the acute pancreatitis and for the recognition of a more severe stage as well as for the control of the course, an evident assessment of the haemorrhagic necrotizing pancreatitis, in particular before operation, is possible only with the help of the CT. Only with its help we succeed in a comprehensive demonstration of the necroses, formations of abscesses, haemorrhages as well as of the ways of necrosis. The better availability and the riskless possibility of carrying out the ultrasonic diagnosis with altogether high evidence allow a narrow-meshed control of the course of the acute pancreatitis.

Acute Disease

[Diagnosis of cardiac involvement in rheumatoid arthritis and some selected collagenoses].

The systemic character of the rheumatoid arthritis and the collagenoses includes an extraarticular organ manifestation. Since the symptomatology of an organ participation is often covered over with dominating joint troubles its diagnostics is difficult. In 34 patients (22 with rheumatoid arthritis, 12 with collagenoses) with the help of non-invasive methods (computed tomography and sonography) is tried to recognize a participation of the heart--particularly of the pericardium. Our examinations show that by means of the computed tomography in 13.6% of the cases an effusion in the pericardium (9.1% of them clinically not conspicuous) could be proved in rheumatoid arthritis, however, the frequency of 30% of the echocardiographically diagnosed pericardial effusions described in the literature could up to now not be confirmed. The classification of the changes of the pericardium as a complication of a rheumatoid arthritis or a collagenosis may be performed only in connection with the adequate clinical and biochemical immunological findings excluding other cardiac diseases.

Arthritis, Rheumatoid

Immunological homologies between ribosomal proteins amongst lower eukaryotes.

Polyclonal antibodies were raised against the purified ribosomal proteins L1 and L2, the 5S rRNA binding protein L3, all from Saccharomyces cerevisiae, and against L1 and L2 from Schizosaccharomyces pombe (numbering according to Otaka and Osawa 1981; Otaka et al. 1983, respectively). For clarity prefixes Sc and Sp have been added to the numbering of proteins derived from S. cerevisiae and S. pombe, respectively. Ribosomal proteins from these yeasts and from Kluyveromyces marxianus, Rhodotorula glutinis, the slime mold Dictyostelium discoideum and the protozoan Tetrahymena thermophila were checked for antigenic cross-reactivity by the immunoblot technique. Anti-ScL1 bound to the largest ribosomal proteins of all organisms but not with equal strength. A fast migrating protein band from R. glutinis was also reactive. Anti-ScL2 reacted strongly with L2 or analogous proteins derived exclusively from the yeasts. Anti-ScL3 cross-reacted only with one protein band from K. marxianus, whereas anti-SpL1 cross-reacted with L1 or its analogues from the other organisms, but also with proteins of lower molecular weight. In S. cerevisiae, these proteins are located exclusively on the small ribosomal subunit. L2 or analogous ribosomal proteins of all organisms were recognized by anti-SpL2 but additionally the ribosomal protein YL28 of S. cerevisiae and fast migrating proteins of T. thermophila exhibited anti-SpL2 binding.

Animals

Smoking habits and disease patterns amongst hospital patients in north-east Nigeria.

A survey was carried out between October 1983 and April 1984 on smoking habits and disease patterns in African patients consecutively attending medical departments of two hospitals in Maiduguri, north-east Nigeria. In all 2346 adult patients completed a questionnaire under medical supervision, and the primary diagnosis was also recorded. Of 820 men 124 (15.1%) and of 1526 women five (0.3%) were current cigarette smokers; over 75% of all smokers consumed less than 20 cigarettes a day. Six hundred and four men (73.7%) and 1519 women (99.5%) had never smoked. No patients had bronchial carcinoma or myocardial infarction; one patient had exertional angina and two had emphysema. The high proportion of non-smokers amongst the patient population is considered an important factor accounting for the rarity of such diseases.

Adolescent

A comparative study with indomethacin and combined indomethacin sodium-salicylate in rheumatoid arthritis.

A double-blind cross-over clinical trial was performed to compare clinical effectiveness of indomethacin (3 x 25 mg/day) alone to that of a combination of indomethacin + sodium-salycylate (3 x 25 mg/day and 3 x 250 mg/day, respectively) in rheumatoid arthritis. It was established that enteral blood loss was significantly reduced by combined treatment as determined by Cr51 labelled erythrocytes in comparison to that after treatment with indomethacin alone. Therapeutic effect was maintained in both groups, no significant disparities were observed. Occurrence of subjective complaints was less frequent in the combined treatment group. It was concluded that the combined preparation consisting of indomethacin and sodium-salicylate has a favourable effect in rheumatoid arthritis.

Adult

Reduction of indomethacin-induced gastrointestinal blood loss by sodium salicylate in man.

The gastrointestinal bleeding during treatment with indomethacin, aspirin, phenylbutazone and sodium salicylate in healthy human subjects was determined. Gastrointestinal blood loss was determined by the Cr51-labelled erythrocyte method. The method was modified by us. Collected stool was incinerated and radioactivity of ashes was determined. Furthermore, rheumatic patients were treated for 4 weeks with indomethacin alone or with indomethacin combined with sodium salicylate. The gastrointestinal blood loss was determined on the last 4 days of treatment. It was found that blood loss was significantly reduced by combined treatment in comparison to monotherapy with indomethacin, while combined treatment had a marked anti-rheumatic effect.

Adult