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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 48 (1970), S. 1209-1216 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The application of 1.13 mM/kg folic acid or xanthopterine causes an acute renal failure in rats which is reversible and connected with changes of the tissue electrolytes. Immediately after application of pteridines an oligo-anuric phase lasting for 15 hours sets in and is followed by a hyposthenuric-diuretic phase. The oligoanuric phase is characterized by a decrease of glomerular filtration rate and by retention of fluid and electrolytes. In the diuretic phase, 4 days after injection of folic acid the sodium and fluid balances are equalized. The inability to concentrate the urine and the increase of rest nitrogen in the serum are normalized 14 days after application of folic acid. 21 days after folic acid a decrease of the GFR can not longer be observed. In the early diuretic phase the changes in the tissue electrolytes consist of a decrease of the extracellular, an increase of the intracellular sodium concentration and a decrease of the extra- and intracellular potassium concentration. The absolute amount of tissue sodium is unchanged while the absolute tissue potassium is decreased. The changes in the electrolytes are partially due to tissue catabolism. The affected reabsorption and secretion after folic acid could be localized in the ascending part of the Henle's loop and in the proximal tubule by experiments with the diuretics furosemide, chlorothiazide and amiloride.
    Notes: Zusammenfassung Die Applikation von 1,13 mM/kg Folsäure bzw. Xanthopterin erzeugt bei Ratten ein akutes Nierenversagen, das reversibel ist und mit Elektrolytveränderungen im Gesamtorganismus einhergeht. Unmittelbar nach der Pteridinverabreichung kommt es zu einer oligoanurischen Phase von 15 Std, der eine hyposthenurisch-diuretische Phase folgt. Die oligoanurische Phase ist gekennzeichnet durch eine Einschränkung der glomerulären Filtration sowie durch Flüssigkeits- und Elektrolytretentionen. In der diuretischen Phase sind die Natrium- und Flüssigkeitsbilanzen nach 4 Tagen ausgeglichen. Eine bestehende Konzentrierungsschwäche und die anfänglich vorhandene Rest-Stickstofferhöhung im Serum sind 14 Tage nach der Folsäuregabe wieder normalisiert. Nach 21 Tagen ist die Senkung der glomerulären Filtration nicht mehr nachweisbar. Die Veränderungen der Gewebselektrolyte in der frühen diuretischen Phase bestehen in einer Verminderung der extracellulären und Erhöhung der intracellulären Natriumkonzentration bei unverändertem Gesamt-Natrium sowie in einer Verminderung der intraund extracellulären Kaliumkonzentration bei erniedrigtem Gesamt-Kalium und sind zum Teil durch Gewebsabbau in den ersten 96 Std nach Folsäuregabe bedingt. Durch Versuche mit den Diuretica Furosemid, Chlorothiazid, Amilorid wurden die durch Folsäure beeinträchtigten reabsorptiven und sekretorischen Tubulusfunktionen in den aufsteigenden Teil der Henleschen Schleife und in den proximalen Tubulus lokalisiert.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 165-176 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In this article, we have discussed recent progress in quantifying the genetically determined component of the resting EEG. This progress has been made possible in particular by the application of advanced information processing techniques such as “supervised learning,” and the development of a problem-oriented “similarity” concept. Our work aimed at modeling previous findings regarding the distinct individuality of human brain-wave patterns, the high similarity between the EEGs of monozygotic twins, and the average within-pair similarity of dizygotic twins. Thus, we had three objectives: First, we wanted to improve the quantification of EEG characteristics with respect to reproducibility and specificity by means of adaptive procedures and repeated measurements. Second, we wanted to compare the “typical” within-subject EEG similarity with the “typical” within-pair EEG similarity of monozygotic and dizygotic twins brought up together. Finally, we were interested in the degree to which environmental factors affect the characteristics of human brain-wave patterns. Our investigations were based on the empirical data derived from five different populations: (1) 81 healthy subjects, (2) 24 pairs of monozygotic twins brought up together, (3) 25 pairs of dizygotic twins brought up together, (4) 28 pairs of monozygotic twins reared apart, and (5) 21 pairs of dizygotic twins reared apart. Following our similarity conception, repeated measurements on the set of 81 individuals were used as design samples, and new registrations from the same individuals taken 14 days later were referred to as test samples in order to develop the appropriate method and to determine all required calibration parameters. This specific approach allowed us to construct EEG spectral patterns which, with a specificity and reproductibility of〉90% each, largely met the requirements of genetic EEG studies. Hence, we were able systematically to investigate the within-pair EEG similarity of our twin samples. Our results provided ample evidence that the individual characteristics of the resting EEG are primarily determined by genetic factors: (1) There exists an almost perfect one-to-one mapping between each individual and his EEG; (2) monozygotic twins proved, with respect to their resting EEGs, to be only slightly less like one another (if there is any difference at all) than each person is to himself over time; (3) the average within-pair EEG similarity estimated from a sufficiently representative sample of dizygotic twins is significantly above the inter-individual EEG similarity between unrelated persons (this finding holds true for both samples of dizygotic twins brought up together and reared apart, and there is also no statistically significant difference in the resting EEG between these two samples) and, (4) the EEGs of monozygotic twins reared apart are obviously as similar to each other as are the EEGs of the same person over time, and there is no statistically significant difference in the resting EEG between the two populations of monozygotic twins brought up together and monozygotic zygotic twins reared apart.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The identification of germline mutations in a large number of clinically well-characterised patients with familial adenomatous polyposis (FAP) has allowed the unravelling of several genotype-phenotype relationships that can now be interpreted in the light of the structure and functional domains of the adenomatous polyposis coli (APC) protein. An attenuated phenotype has been found to be associated with mutations at the 5′ end of the gene, while a severe clinical expression was found in patients with the most common mutation at codon 1309. So far, only few mutations in the 3′ half of the gene have been published. We report on two families with a rather mild phenotype due to a frameshift mutation at codon 1597. These families may represent a clue for defining a 5′ border for the occurrence of a second region of attenuated FAP that is localised in the 3′ part of the APC gene. We propose a model to explain the relationship between the severity of the disease and the size of the mutant APC protein.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 422-423 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Arylsulphatase A ; Metachromatic leukodystrophy ; Arylsulphatase A pseudodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a family with a sibship of three children for whom the diagnosis of “an unusual form of metachromatic leukodystrophy (MLD)” had been suggested earlier. The patients had choreiform movements and dystomic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 11 (1977), S. 337-344 
    ISSN: 1432-1041
    Keywords: Twin study ; ethanol metabolism ; intra-individual variation ; pharmacogenetics ; plasma level ; man ; heritability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The influence of genetic and environmental factors on the metabolism of a single oral dose of ethanol 1.2 ml per kg body weight was analysed in 19 identical and 21 fraternal healthy, adult, un-selected male twin pairs. The heritability values of the rates of absorption, degradation and elimination of ethanol were 0.57, 0.41 and 0.46 respectively. Environmental factors, such as daily alcohol intake and smoking, increased the rate of elimination of blood alcohol. Intrasubject variation in ethanol metabolism was studied by repeated tests in 11 male volunteers at intervals of at least 2 months, under the same conditions as in the twins; the coefficients of variation for parameters of metabolism was about 8%. The results demonstrate both genetic control of ethanol absorption, degradation and elimination and the appreciable influence of environmental factors. The almost total genetic control of ethanol metabolism postulated by Vesell et al. (1971) could not be confirmed.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 205 (1994), S. 1194-1200 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Clinica Chimica Acta 162 (1987), S. 215-219 
    ISSN: 0009-8981
    Keywords: Erythrocyte transketolase ; Isoelectric focusing ; Isoenzyme ; Wernicke-Korsakoff syndrome
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Psychiatry Research 2 (1980), S. 85-98 
    ISSN: 0165-1781
    Keywords: Pharmaco-EEG ; alcohol ; genetics of EEG ; pharmacogenetics
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 0165-1781
    Keywords: Manic depression ; amino acid substitution ; genetics
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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