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  • 1
    ISSN: 1432-072X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Zusammenfassung 1. Mit Hilfe der Kochschen Plattenmethode läßt sich das Bakterienwachstum auf Fleisch in Abhängigkeit von der Temperatur und der Luftfeuchtigkeit zahlenmäßig erfassen. 2. Der untersuchte Bereich erstreckte sich von 75 bis 100% relativer Feuchtigkeit bei 0, 2 und 4°C. 3. Die Ergebnisse wurden bei ruhender Luft an kleinen Fleischstücken gewonnen. Die Übertragung auf die Verhältnisse im Kühlhaus ist also zunächst nur mit Vorbehalt möglich. 4. Die Bakterien entwickeln sich in Abhängigkeit von der relativen Feuchtigkeit annähernd nach einer Exponentialfunktion. 5. Der hemmende Einfluß niederer Feuchtigkeitsgrade wird durch gleichzeitige Herabsetzung der Temperatur wesentlich unterstützt. 6. Dieselbe maximale Lagerdauer (Haltbarkeit des Fleisches) kann durch Kombination verschiedener Temperaturen und Feuchtigkeitsgrade erreicht werden. 7. Bei Senkung der Temperatur um 1° kann zur Erzielung gleicher Haltbarkeit, gemessen an der Bakterienentwicklung, die relative Feuchtigkeit etwa um 5% heraufgesetzt werden.
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 1. Endoxan and Trenimon, the alkylating agents tested, are potent cytostatic drugs, therapeutically acting through their mutagenic effects. To demonstrate their chromosome breaking effects in bone marrow, higher than the usual therapeutic doses in man had to be applied. Starting from these practical threshold doses the dose-response curves were, however, rising very steeply. 2. The extent of chromsome damage in individual cells was dose-dependent: after treatments in the lower dose range only metaphases with one or few chromatid aberrations were observed in a small percentage of the mitotic figures. With increasing doses the number of aberrations per cell steadily rose to the point of complete pulverization of the chromosome complement. 3. After the last application of the test substances the cell population with visible chromosome damage diminuishes soon. The maximum incidence of aberrations was observed after 6–8 hrs. 4. The effect was several times higher after two applications spaced by 24 hrs than after a single application. With Endoxan given per os the incidence of affected cells was 8 times higher, with Trenimon i.p. 2–3 times. A longer oral treatment is less effective due to the radiomimetic damage to the intestinal mucosa thereby reducing further resorption of the mutagenic compound. Only a relatively small increase in effect is gained with more than two intraperitoneal applications; if there is a severe mutagenic effect, the animals begin to succumb to the treatment after 4 days. 5. A prolonged treatment with low doses of Endoxan (8 mg/kg daily for 7 weeks) produced no increase in the very low aberration incidence.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 1. Chinese hamster fibroblast cell cultures were exposed to the alkylating mutagen, Trenimon, for 8 and 24 hrs; human fibroblast and lymphocyte cultures for 24 hrs. The dose range tested in each experiment comprised the entire span from concentrations causing aberration frequencies close to control levels up to those causing mitotic inhibition. 2. In all test systems a clear dose-response relationship was observed. The curves for different degrees of chromosome damage (1–2 aberrations; multiple aberrations; pulverized chromosomes) showed a similar pattern in all systems. 3. In Chinese hamster fibroblasts a 24 hrs exposure proved to be much more effective than an 8 hrs exposure: for a level of 50% damaged cells the drug concentration had to be increased 60-fold in the 8 hrs test. Practically no pulverized metaphases were produced in the 8 hrs experiment whereas over 70% pulverized mitoses appear after a 24 hrs exposure to the highest tolerable concentrations. 4. Major differences in the sensitivities of the three different test materials were found. The Chinese hamster fibroblasts proved to be most susceptible, but also showed the highest rate of spontaneous chromosome breakage. Human lymphocytes were the least sensitive. The differences found in drug sensitivity at the 50% damage level were about 15-fold between Chinese hamster and human fibroblasts and 70-fold between human fibroblasts and human lymphocytes. 5. Compared to the in vivo bone marrow system which responds to a very narrow dose range only (16x), the 24 hrs fibroblast system responded with a complete pattern of dose-response curves within a 32,000-fold difference between the highest and lowest test concentrations.
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen Knaben mit einem charakteristischen Dysmorphiesyndrom bei partieller Trisomie des kurzen Armes von Chromosom 4 berichtet, der im Alter von 7 Monaten verstarb. Der Patient wies die folgenden Merkmale auf: eigenartiges Gesicht mit Hypertelorismus, enge Lidspalten und an der Basis eingezogene, knollig deformierte Nase, dysmorphe Ohrmuscheln, einseitiges Fehlen der 12. Rippe, Hüftgelenksluxation, Deformität des knöchernen Beckens, Hakenfüße mit hypoplastischen Tali und vorspringenden Fersen, Flexionsdeformität der Finger, Kryptorchismus, Leistenhernie und im Dermatoglyphenbild Häufung von Wirbelmustern auf den Fingerbeeren. Im Karyotyp lag eine Translokation auf den langen Arm eines Chromosoms 18 vor, bei entsprechender reziproker Translokation beim Vater: t(4p-,18q+). Als Nebenbefund fand sich bei Vater und Sohn eine extreme Anisomorphie der Chromosomen 16, bedingt durch die Verlängerung des heterochromatischen, parazentrischen Abschnittes auf dem langen Arm des einen Homologen.
    Notes: Summary A polymalformed boy is described with partial trisomy for the short arm of chromosome 4. The patient who died at the age of 7 months presented the following malformations and dysmorphic features: odd face with hypertelorism, narrow palpebral fissures and a stubby nose with depressed bridge, malformed ears, unilateral absence of the 12th rib, dislocation of the hips, bony malformation of the pelvis, rockerbottom feet, flexion deformity of the fingers, cryptorchidism, inguinal hernia, and an excess of whorls on the finger tips. The karyotype revealed an 18q+ with the corresponding reciprocal translocation in the father: t(4p-,18q+). In addition, father and son presented highly anisomorphic chromosomes 16 due to the presence of a heterochromatic elongation in the paracentric long arm region of one of the homologs.
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Amniocentesis was performed in a pregnancy of 26 weeks because of hydramnios. The amniotic fluid was examined for fetal karyotype and AFP content. The latter was elevated to 300 μg/ml. Fetal death occurred shortly after amniocentesis and a malformed male fetus with a large sacrococcygeal teratoma was stillborn 3 days later.
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  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 6-year-old girl of small stature and with some features of Turner's syndrome was found to have a karyotype with two-thirds of the cells possessing one, and one-third with two dicentric iso-long arm Y chromosomes. In metaphases with 46 chromosomes the majority of the abnormal Ys exhibited two primary constrictions. In cells with 47 chromosomes both isochromosomes prevalently had only one active centromere.
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  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.
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  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study.
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Drei Patienten mit unvollständiger Trisomie für Chromosom 13 werden vorgestellt, ein Fall von Mosaik-Trisomie und je einer mit partieller Trisomie für den proximalen und distalen Teil des langen Arms. Die Patientin mit Trisomie 13-Mosaik wies neben geringeren dysmorphen Merkmalen Mikrocephalie, einen komplexen Herzfehler und eine Rotationsanomalie des Darmes auf. Nur ein Viertel der Mitosen aus den Lymphocyten und ein Drittel aus Hautfibroblasten waren trisom; das klinische Bild der Patientin erinnert kaum an eine Trisomie 13. Von zwei Söhnen einer Mutter mit balancierter Translokation 13/17 zeigte der Karyotyp des einen eine partielle Trisomie des proximalen, der des anderen eine partielle Trisomie des distalen Abschnittes des langen Arms von Chromosom 13. Der Knabe mit partieller Trisomie für die distalen zwei Drittel des langen Arms wies einige charakteristische Merkmale des Pätau-Syndroms auf, so Wachstumsrückstand, Idiotie, Hämangiome, Hexadaktylie und lange gebogene Wimpern, während sein Bruder mit partieller Trisomie für das proximale Drittel von normaler Größe war und neben einem schweren Intelligenzdefekt nur wenige körperliche Anomalien zeigte, wie kleines Kinn, Strabismus und Nystagmus, Kryptorchismus und kurze Kleinfinger. Eine Übersicht über andere Veröffentlichungen von partieller Trisomie 13 zeigt, daß typische Merkmale des Pätau-Syndroms in der Regel zwar bei partieller Trisomie für den distalen Abschnitt des langen Arms gefunden werden, nicht aber bei partieller Trisomie für den proximalen Anteil; bei letzterer fügen sich die wenigen dysmorphen Merkmale zu keinem spezifischen Syndrom.
    Notes: Summary Three cases with different forms of incomplete trisomy 13 are described; 1 was mosaic and 2 were partially trisomic for the distal and proximal long arm, respectively. The female patient who was mosaic for trisomy 13 exhibited microcephaly, minor dysmorphic features, a complex congenital heart defect, and malrotation of the intestine. The supernumerary No. 13 chromosome was present in only one fourth of blood lymphocyte and one third of skin fibroblast mitoses; her clinical picture has little in common with the usual trisomy 13 syndrome. Two sons of a mother with a balanced 13/17 translocation were found to be trisomic, one for the proximal third and the other for the distal two-thirds of the long arm of chromosome 13. The boy trisomic for the distal two-thirds showed some signs typical for the full trisomy 13 syndrome, such as stunted growth and severe mental retardation, long, incurved eyelashes, hemangiomata, and hexadactyly, whereas his brother, who is trisomic for the proximal third of the long arm of chromosome 13, presented rather unspecific clinical signs such as small chin, strabismus and nystagmus, cryptorchidism, and incurved little fingers. A review of other cases trisomic for these two segments shows that typical features of trisomy 13 are usually present in trisomy for the distal part of the long arm, and that duplication of, the proximal part leads to an unspecific clinical picture of mental retardation and minor dysmorphic traits.
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