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Biomedical subjects

A Braun

Publications and source records attributed to A Braun.

At least 163 records · Page 9Linked to original sources
PubMed1993

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.

Recently, the gene for the determination of maleness has been identified in the sex-determining region on the short arm of the Y chromosome (SRY) between the Y-chromosomal pseudoautosomal boundary (PABY) and the ZFY gene locus. Experiments with transgenic mice confirmed that SRY is a part of the testis-determining factor (TDF). We describe a sporadic case of a patient with intersexual genitalia and the histological finding of ovotestes in the gonad, which resembles the mixed type of gonadal tissue without primordial follicle structures. The karyotype of the patient was 46,XY. By PCR amplification, we tested for the presence of PABY, SRY, and ZFY by using DNA isolated from peripheral blood leukocytes and for the presence of SRY by using DNA obtained from histological gonadal slices. The SRY products of both DNA preparations were further analyzed by direct sequencing. All three parts of the sex-determining region of the Y chromosome could be amplified from leukocytic DNA. The patient's and the father's SRY sequences were identical with the published sequence. In the SRY PCR product of gonadal DNA, the wild-type and two point mutations were present in the patient's sequence, simulating a heterozygous state of a Y-chromosomal gene: one of the mutations was silent, while the other encoded for a nonconservative amino acid substitution from leucine to histidine. Subcloning procedures showed that the two point mutations always occurred together. The origin of the patient's intersexuality is a postzygotic mutation of the SRY occurring in part of the gonadal tissue. This event caused the loss of the testis-determining function in affected cells.

Adult↗
PubMed1992

Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types.

DNA sequence analysis of the polymerase chain reaction products, including the coding region for amino acids 416 and 420, of the vitamin-D-binding protein (DBP, group-specific component, GC) shows allele-specific differences. The GC2 and GC1F phenotypes have an aspartic acid residue at amino acid position 416, whereas the GC1S phenotype has a glutamic acid at this position. In the GC2 phenotype, amino acid 420 is a lysine residue, and in the both common GC1 phenotypes, it is a threonine residue. The nucleotide exchanges involve a HaeIII (position 416) and a StyI (position 420) restriction site: the HaeIII restriction site is specific for the GC*1S allele and the StyI restriction site is specific for the GC*2 allele. We have tested 140 individual genomic DNA samples for the HaeIII site and 148 samples for the StyI site by restriction fragment length polymorphism (RFLP) analysis with a DBP-specific direct genomic DNA probe, and have compared these findings with the GC phenotype classification, by isoelectric focusing (IEF) of the corresponding plasma. The results of the HaeIII RFLP analysis and the IEF typing were in complete agreement. By using our DNA probe, we could disclose, in addition to the StyI site at amino acid position 420, two further StyI site downstream: one was specific for the GC*1S allele and another for the GC*1F allele. In 147 samples, there was agreement between the IEF GC typing and the analysis of the StyI restriction sites. In a single case, the observed result of the StyI-digest differed from the result expected after IEF classification: homozygous GC 1F-1F by IEF and heterozygous by StyI RFLP analysis. We discuss this finding as a recombination event or a possible silent allele in IEF typing. The GC polymorphism revealed by Southern blot analysis of StyI-digests provides an informative DNA marker system for chromosome 4q11-q13.

Alleles↗
PubMed1992

A comparison of FDG PET and IQNB SPECT in normal subjects and in patients with dementia.

Prior studies of patients with dementia have found similar qualitative patterns of cerebral glucose utilization with [18F]2-fluoro-2-deoxyglucose (FDG) PET and of putative muscarinic receptor activity with [123I]3-quinuclidinyl-4-iodobenzilate (IQNB). This raised doubts about whether receptor binding determines IQNB distribution and whether clinical information in IQNB scans is unique. To compare the methods directly, 4 normal volunteers and 7 patients with dementia underwent FDG PET and high-resolution IQNB SPECT scans. In normal subjects, relative regional activity from the paired scans was only weakly correlated (r = 0.29). Some regions (e.g., thalamus, frontal cortex) showed a clear disassociation of activity. In demented patients, IQNB scans tended to show larger defects than FDG scans, although one focal defect appeared only with PET. Results suggest that IQNB SPECT data are not primarily related to general physiological activity or regional cerebral blood flow and are not explained by attenuation or volume-averaging artifacts. Further studies should investigate whether IQNB scanning is a more sensitive in vivo measure of the extent of Alzheimer's disease than is FDG PET.

Adult↗
PubMed1992

Fatty acids, calcium soaps of fatty acids, and cottonseeds fed to high yielding cows.

We examined the effects of dietary fat as cottonseed, fatty acids, or calcium soaps of fatty acids in the rations of high yielding lactating cows receiving low forage. Experiments were with isoenergetic, isonitrogenous diets containing equal amounts of forage. Inclusion of up to 510 g/d of fatty acids in the ration enhanced FCM yield. With cottonseed, increased FCM was mainly due to increased fat yield. Dietary fatty acids tended to increase milk in mid and late lactation and to decrease fat percentage. Calcium soaps of fatty acids enhanced FCM, particularly in early lactation. Feeding cottonseed and fatty acids together did not enhance yield. Effects described may be attributed in part to changes in ruminal fermentation in which cottonseed increased acetate concentrations and fatty acids decreased the ratio of acetate and butyrate to propionate and in part to enhanced efficiency of milk yield when fat was included in the ration.

Acetates↗
PubMed1992

Cerebral glucose metabolic rates after 30 and 45 minute acquisitions: a comparative study.

This study was undertaken to determine if measurements of absolute regional cerebral metabolic rate for glucose (rCMRglc) and variance of rCMRglc are independent of time between 30 and 45 min following injection of the radiotracer. Sixteen subjects received two sets of 18FDG PET scans commencing 30 and 45 min following intravenous injection of 18FDG. No statistically significant differences were detected in either absolute rCMRglc or rCMRglc variance between the two sets of scans. These data demonstrate that for most FDG PET studies, scanning can commence 30 min after injection of the radiotracer without compromising the metabolic data.

Adult↗
PubMed1992

[Sonography in therapy-oriented diagnosis and after-care of primary bone and soft tissue tumors].

Based on the results of 150 patients with primary tumors or the suspicion of malignant lesions of the locomotor system the perspectives and limits of the sonographic diagnosis under the therapeutic aspects of interdisciplinary oncologic cooperation is demonstrated. As the ideal adjunct to conventional roentgenograms, ultrasound is the first-line imaging procedure in the fields of primary diagnosis, follow-up, post-therapeutic care as well as tumor exclusion for methodic, patient-related and economic/logistic reasons. Its consequent application will markedly reduce the number of more invasive and expensive methods.

Adult↗
PubMed1991

In vivo dissociation kinetics of [3H]quinuclidinyl benzilate: relationship to muscarinic receptor concentration and in vitro kinetics.

The in vivo washout kinetics of [3H]quinuclidinyl benzilate ([3H]QNB) varies significantly in various structures in the rat brain. The slowest washout rates are from the hippocampus, corpus striatum, and cortex, intermediate rates are exhibited from the thalamus and colliculi, while the fastest washout rate is from the cerebellum. We have also demonstrated a difference in the in vitro dissociation rates (k-1) of [3H]QNB from various structures. The k-1 for the hippocampus, corpus striatum and cortex, is two-fold slower than that observed in the thalamus, colliculi, and cerebellum. The differences in the in vitro dissociation kinetics are not, however, sufficient to explain the differences in the in vivo washout kinetics. We have developed a theoretical formulation which describes conditions under which the washout kinetics are a function of the concentration of receptor in a structure. Furthermore, we present a graphical method in which a plot of the reciprocal of the observed washout rate constant, 1/k(obs), vs receptor concentration is linear. Analysis of the washout kinetics of [3H]QNB from various structures of the CNS of rat were well described by this theory when the differences in in vitro k-1 are included.

Animals↗
PubMed1991

Binding of ATP to uncoupling protein of brown fat mitochondria as studied by means of spin-labeled ATP derivatives.

ATP derivatives spin-labeled (SL) at C8, N6, C2' or C3' were employed in binding studies with the uncoupling protein of brown fat mitochondria. Substitution of the ribose strongly impaired binding, whereas labeling of the adenine moiety allowed for tight and functional complex formation. Detailed binding studies with C8-SL-ATP confirmed the known pH and Mg2+ dependence with a stoichiometry of one C8-SL-ATP bound per 66 kDa dimer. Corresponding studies of the uncoupling protein after modification with N-ethylmaleimide or diazobenzene-4-sulfonic acid revealed distinct differences in their effects on nucleotide binding and gating.

Adenosine Triphosphate↗
PubMed1991

Compression therapy of limb edema using hydrostatic pressure of mercury.

A new apparatus for the treatment of edema of the extremities is described. The extremity is placed in a cylindrical vertical tank and isolated by a circumferential synthetic rubber membrane. The equipment is programmed to create a mold of the extremity using a slurry of plastic granules from a reservoir. Mercury is then pumped between the mold and the extremity, thereby exerting a pressure gradient on the extremity equal to the hydrostatic pressure of the mercury column. A computerized program forms the mold and runs several compression cycles for each treatment session. Twelve patients were treated (8 upper extremities, 4 lower extremities) on a weekly or semiweekly basis. Progress was followed with computed axial tomography scans, as well as measurements and photographs. Ten patients experienced significant immediate decrease in edema with each treatment. Wrapping or elastic support was required to prevent the return of edema between treatments. No pain, skin injury, or other complication of treatment was noted. The apparatus can safely provide short-term, immediate, significant improvement of extremity edema. Further studies will be necessary to determine long-term benefit.

Bandages↗
PubMed1990

Interaction of the vitamin D-binding protein (group-specific component) and its ligand 25-hydroxy-vitamin D3: binding differences of the various genetic types disclosed by isoelectric focusing.

The three common variants of the vitamin D binding protein, also known as group specific component (Gc), namely types 1S, 1F and 2, as well as some rare variants were studied by thin-layer polyacrylamide gel isoelectric focusing in a pH 4.5-5.4 carrier ampholyte generated pH gradient, additionally containing N-(2-acetamido)-2-aminoethanesulfonic acid (ACES). Prior to isoelectric focusing, whole serum or purified preparations of the vitamin D binding protein were incubated with 25-hydroxycholecalciferol at various ligand/protein ratios. Binding differences were found for the anodal and cathodal isoforms of Gc 1 variants and also for various allelic types. Isoforms with higher isoelectric points generally had a lower affinity for the ligand than the variants with lower isoelectric points.

Calcifediol↗
PubMed1990

A monoclonal antibody against human vitamin-D-binding protein for the analysis of genetic variation in the group-specific component system (Gc).

We have developed a murine hybridoma cell line that is stable in secreting a monoclonal antibody (hDBP-1) directed against the group-specific component (Gc) molecule. The hDBP-1 is monospecific for Gc and does not crossreact with human albumin, which has 23% of its amino acid residues identical with vitamin-D-binding protein (DBP). The subclass of the antibody is IgG1 for the heavy chain, the light chain being of the kappa type. Isoelectric focusing discloses four major bands for the hDBP-1 with isoelectric points between pH 6.5 and 7.8. Binding to the antigen at different pH values was determined: there is high affinity in the physiological range and no binding at pH 3.5 and lower. In the presence of high salt concentrations, binding was reduced to about 50% at 1.5 M NaCl. The hDBP-1 recognizes the common human Gc types and the Gc of all apes and old world monkeys. No reaction was observed with the Gc of other mammals such as horses, cattle, rats, rabbits, sheep, goats and pigs. By testing hDBP-1 against 77 of the more than 120 known rare human Gc variants, it could be shown that this monoclonal antibody cannot recognize seven of these rare variants and can only poorly recognize nine. The binding site of hDBP-1 to Gc is not related to the binding site of Gc with G-actin: it recognizes Gc, the binary complex between Gc and G-actin, as well as the ternary complex between Gc, G-actin and DNase I. Competition assays with vitamin D3 and Gc in enzyme-linked immunosorbent assay indicate that the epitope of hDBP-1 on the Gc molecule may be related to the vitamin-D3-binding site.

Animals↗
PubMed1990

Identification and partial purification of embryonic mouse genital protein(s) stimulating phospholipase-A2 and inducing masculinization in vitro.

The present study was designed to test whether phospholipase-A2 stimulatory protein (PLSP) has any role during androgen-induced masculine differentiation. Thus, an investigation was made to identify such a protein in the fetal genital tract and to test whether this protein can produce masculinization in vitro. Fetal tracts (15/batch) containing genital ducts and urogenital sinus from male, female, and testosterone-exposed (40 mg/kg.day, from days 13-17 of gestation) female embryonic mice on day 18 of gestation were fractionated using Bio-Rad P-100 gel filtration, DEAE-cellulose, and carboxymethyl-Sephadex chromatography. Phospholipase-A2 (PLA2) stimulatory activity was identified at every step of purification. The final preparation stimulated both bee venom and mouse genital PLA2; however, it had no effect on PLC. The preparation lost its PLA2 stimulatory activity after pronase treatment. The partially purified PLSP fraction produced two bands (63K and 55K), as determined by sodium dodecyl sulfate-gel electrophoresis, and its PLA2 stimulatory activity appeared at the region of 55K on a P-100 gel filtration column. PLSP was also identified in female and testosterone-exposed female genital tracts. However, the specific activity of the female PLSP was much lower than that of the male or testosterone-exposed females. Sodium dodecyl sulfate-gel analysis of 2-3 micrograms partially purified PLSP revealed the presence of a faint 55K band in the females compared to the presence of a darker 55K band in the male and testosterone-exposed female. The intensity of the 63K band was similar in both sexes. PLSP from the male and testosterone-exposed females maintained and stimulated the Wolffian duct, whereas PLSP from the female tract had no masculinizing effect. Thus, the masculinizing activity of the PLSP preparation appears to correlate with its PLA2 stimulatory activity and 55K band intensity, suggesting the role of PLA2 stimulatory protein in masculine differentiation.

Animals↗
PubMed1989

Oxygen inhibition of globin gene transcription and bacterial haemoglobin synthesis in Vitreoscilla.

A soluble dimeric haemoprotein, structurally and functionally similar to plant and animal haemoglobins, is found in the Gram-negative aerobic bacterium Vitreoscilla sp., strain C1. Vitreoscilla haemoglobin (VtHb) increases in concentration when the cells are exposed to hypoxic conditions. The globin part of VtHb is encoded by a single gene (vgb). An RNA transcript, approximately 500 bases long, specific for vgb was detected after Northern hybridization. The relative amount of this mRNA increased in cells grown at low levels of oxygen. Two enzymes important for haemoglobin function are delta-aminolaevulinic acid synthase (ALAS), which is necessary for haem biosynthesis, and NADH-methaemoglobin reductase, which is necessary to keep VtHb in the physiologically functional ferrous state. An increase in ALAS specific activity under hypoxic conditions preceded the increased haem production. Cellular reductase content also increased when the VtHb increased in cells grown under hypoxic conditions. The ratio of cellular reductase activity to VtHb content remained relatively constant in cells grown under a variety of conditions. The data suggest that in Vitreoscilla the transcription of the globin gene and the biosynthesis of two enzymes important for VtHb function are regulated by oxygen.

5-Aminolevulinate Synthetase↗
PubMed1989

Selective D-1 dopamine receptor agonist effects in hyperkinetic extrapyramidal disorders.

The motor and cognitive effects of a selective D-1 dopamine receptor agonist, SKF 39393, were assessed in patients with Huntington's disease, Gilles de la Tourette's syndrome, tardive dyskinesia, and torsion dystonia, using a double-blind placebo-controlled design. Over daily doses ranging from 3.2 to 32 mg/kg and treatment intervals extending from one to seven weeks, no consistent changes could be discerned. The contribution of D-1 receptor mediated mechanisms to the pathophysiology of hyperkinetic extrapyramidal disorders remains uncertain.

2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗
PubMed1988

Dopamine D-1 receptor agonist stimulation of prolactin secretion in man.

SKF 38393, a selective D-1 dopamine receptor agonist, elevated plasma prolactin levels in eight patients with various neurological disorders. Growth hormone concentrations were unaffected by SKF 38393 administration. The results suggest that D-1 receptors may be involved in the regulation of prolactin secretion.

2,3,4,5-Tetrahydro-7,8-dihydroxy-1-phenyl-1H-3-ben↗
PubMed1987

Unsuitability of the assay for cell-mediated lympholysis in inbred mice for H-Y antigen determination of human cells.

This study examined the H-Y-specific in vitro restimulation of splenocytes from in vivo intraperitoneally (i.p.) primed C57B1/6 (B6) female mice. In vivo priming was carried out with human male or female fibroblasts or peripheral blood lymphocytes, respectively. It was attempted to measure the in vitro H-Y-specific activity by cell-mediated lympholysis and by cell proliferation. 3[H]Thymidine incorporation was determined in mixed lymphocyte cultures (MLCs) of xenogeneic primed female splenocytes (responder cells) and of syngeneic lethally irradiated male splenocytes (stimulator cells). The xenogeneic H-Y presentation by in vivo sensitization did not induce in the in vitro restimulation system an H-Y-specific cell proliferation or in the effector phase the generation of H-Y-specific killer cells. The assay for cell-mediated lympholysis and lymphocyte proliferation after xenogeneic priming and syngeneic in vitro restimulation is, thus, not suitable for H-Y testing of human cells.

Animals↗