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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 339-342 
    ISSN: 1432-1076
    Keywords: Peroxisomes ; Inborn error ; Hepatosplenomegaly ; Psychomotor retardation ; Fatty acid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a 16-year-old boy suffering from psychomotor retardation, sensorineuronal hearing impairment, peripheral neuropathy, hepatosplenomegaly, short stature and delayed puberty. Postnatally, muscular hypotonia, mild facial dysmorphism and delayed fontanelle closure had been noticed. At the time of our examination, adrenal cortical function was normal. Biochemical analysis revealed accumulation of very long (〉C22) chain fatty acids in plasma and fibroblasts. Furthermore, elevated levels of intermediates of bile acid synthesis and phytanic acid were detectable. These findings are consistent with a defect in the peroxisomal β-oxidation system. A generalised defect of peroxisomal function was excluded by normal plasmalogen levels in erythrocytes and normal plasmalogen de novo synthesis in fibroblasts. Immunoblotting of the peroxisomal β-oxidation enzymes gave normal results suggesting retained immunoreactivity but catalytic inactivity of one of the enzymes involved, probably either the trifunctional protein or the peroxisomal ketothiolase. This case markedly differs clinically from the few published reports on isolated deficiencies of peroxisomal β-oxidation. Among the patients with comparable biochemical findings, this is the first report of survival into adolescence.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 452-454 
    ISSN: 1432-1076
    Keywords: Infant Nutrition ; Faecal excretion ; Gastro-intestinal passage time
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Data on normal defaecation patterns in relation to diet during the first months of infancy are very limited. We therefore investigated in a prospective study faecal weight and gastro-intestinal passage time of breast fed (n=12) and formula fed (n=14) male infants. These were studied in 72 h collecting periods at the age of 17, 35, 57, 87 and 113 (±4) days. Breast fed infants had a significantly lower daily dry faecal weight than formula fed infants in all periods investigated (median at the age of 113 days: 0.28 (0.17–0.75) g/kg and 0.81 (0.22–1.2) g/kg, respectively). Breast fed infants showed a large variation of gastro-intestinal passage time (6.79 h [range: 1.79–13.38 h] at the age of 17 days, 21.84 h [range: 5.41–75 h] at the age of 113 days). Comparable values of formula red infants were 13.75 h (range: 7.13–35.25 h) and 17.42 h (range: 5.38–36.5 h). Despite the efforts of approximation of infant formula to breast milk, differences of defaecation patterns in relation to diet are still relevant at this age and have to be considered in clinical practice.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Perinatal asphyxia ; Umbilical blood pH ; Umbilical arterio-venous glucose difference ; Cardiotocography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The value of clinical parameters and umbilical arterial blood pH as indicator of prenatal hypoxia is disputed. In a prospective study of 86 vaginally delivered full-term infants, cardiotocographic (CTG) findings obtained 0–30 min and 30–60 min before birth were compared to pH values, O2 and CO2 partial pressures and glucose difference in umbilical arterial and venous blood. CTG findings were expressed as a score, higher values indicating fetal hypoxia. The venous but not the arterial blood pH was significantly related to the later (0–30 min) CTG score. The arterio-venous glucose difference was significantly related to both CTG scores. There was a significant statistical relationship between glucose difference and venous but not arterial blood pH. The later CTG score (0–30 min) also correlated significantly with O2 and CO2 partial pressures and base excess in the umbilical vein of all vaginally born infants. If CTG is accepted as an objective indicator of fetal hypoxia before birth, the arterio-venous glucose difference, and in the investigated range of pH-values, umbilical venous blood pH are more suitable than the arterial blood pH to ascertain the peripartal situation of the newborn.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 158 (1999), S. 605-606 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 123 (1976), S. 111-114 
    ISSN: 1432-1076
    Keywords: Triploidy ; C-banding method ; Marker studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate, that nonreduction of the first meiotic division in the father's spermiogenesis most probably leads, to triploidy. However, in our case fertilization of the zygote by two sperms cannot be excluded.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 126 (1977), S. 37-44 
    ISSN: 1432-1076
    Keywords: Salivary carbamazepine level ; Enzyme immunoassay ; Carbamazepine saliva/serum ratio ; Drug monitoring
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 17 children on carbamazepine medication alone and 15 children on combined drug regimens, carbamazepine levels were determined in paired samples of serum and mixed saliva by enzyme immunoassay. Carbamazepine levels in serum and saliva were highly correlated in within-patient and between-patient series (r=0.87–0.94). Salivary levels were altered to a minor and clinically insignificant degree by stimulation of saliva flow. Mean saliva/serum ratios, calculated from drug concentrations in saliva specimens collected without and with stimulation were 0.44–0.45 and 0.41–0.43, respectively. The saliva/serum ratio was independent of the serum carbamazepine level and was not affected by concomitant drug medication. The data indicate that measuring salivary levels by enzyme immunoassay is suitable for predicting serum carbamazepine levels. Thus, measurement of carbamazepine levels in mixed saliva samples obtained by a noninvasive technique is recommended for routine monitoring of carbamazepine medication in epileptic children.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Zeitschrift für Kardiologie 87 (1998), S. 478-481 
    ISSN: 1435-1285
    Keywords: Schlüsselwörter Atriale ektope Tachykardie – kardiale Tumoren – medikamentöse Therapie – chirurgische Therapie – interventionelle Therapie ; Key words Atrial ectopic tachycardia – cardiac tumors – medical treatment – surgical treatment – interventional treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A case of atrial ectopic tachycardia in an infant probably caused by a small tumor in the interatrial septum is presented. The arrhythmia was successfully treated with amiodarone. Several histologic abnormalities are known to cause AET, but an intracardiac tumor detectable by two-dimensional echocardiography is extremely rare. AET – especially in childhood – as well as cardiac tumors show a tendency to regression, so that even in this case medical treatment should be the first therapeutic choice. Interventional or surgical treatment is required just for those patients with AET that is resistant to medical treatment or reoccurs after finishing the medical treatment.
    Notes: Zusammenfassung Wir berichten über einen Säugling mit einer atrialen ektopen Tachykardie (AET), die wahrscheinlich durch einen kleinen Tumor im interatrialen Septum verursacht wurde. Die Rhythmusstörung wurde mit Amiodaron erfolgreich behandelt. Obwohl vielfältige histologische Veränderungen im Vorhofmykoard als Ursache einer AET beschrieben wurden, ist ein echokardiographisch darstellbarer Tumor eine extreme Seltenheit. Da sowohl die AET – besonders wenn sie im Kindesalter auftritt – als auch kardiale Tumoren eine spontane Remissionsneigung haben, ist im Säuglingsalter eine medikamentöse Therapie sinvoll. Bei Erfolglosigkeit oder Rezidiv der Tachyarrhythmie nach Beendigung der medikamentösen Therapie ist eine interventionelle oder chirurgische Behandlung anzustreben.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Archives of gynecology and obstetrics 224 (1977), S. 251-252 
    ISSN: 1432-0711
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Naunyn-Schmiedeberg's archives of pharmacology 265 (1970), S. 442-454 
    ISSN: 1432-1912
    Keywords: Haemolysis ; Phospholipase A ; Direct Lytic Factor ; Polypeptides ; Toxins ; HÄmolyse ; Phospholipase A ; Direkt lytischer Faktor ; Polypeptide ; Toxine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The haemolytic action on washed guinea-pig red cells of the following substances has been studied: the direct lytic factor (DLF) of cobra venom, melittin and an apamin-containing fraction of bee venom, anaphylatoxin (AT), angiotensin, vasopressin, saponin, p-chloro-mercuribenzoate (p-CMB) and N-ethylmaleimide (NEM). Further the synergism of these substances with phospholipase A in causing haemolysis has been investigated. In regard to the lytic effects, the substances studied can be classified as follows. 1. Substances which react with SH-groups, either by means of -S-S- bonds (DLF, apamin-fraction, AT, vasopressin) or by other structures (p-CMB, NEM) produce weak or no direct haemolysis, but strongly potentiate haemolysis caused by phospholipase A. Their effect is increased by Ca++, inhibited by EDTA, and strongly dependent on temperature (as far as has been investigated). 2. Angiotensin, a peptide without disulfide groups, is not haemolytic, neither directly nor in combination with phospholipase A. Saponin, which does not react with SH-groups, also does not show potentiated haemolysis with phospholipase A in spite of being haemolytic itself. 3. Melittin, though not containing disulfide structures, does produce potentiated haemolysis with phospholipase A, even at concentrations which are not lytic when acting alone. It is concluded that more than one mechanism of potentiating phospholipase A haemolysis exists. One possibility is the reaction of potentiating agents with SH-groups of membrane constituents (enzymes?) of the red cells. This mechanism applies to p-CMB, NEM and to disulfide-containing peptides. It is independent of detergent effects. Another mechanism may be membrane changes due to a lowering of surface tension such as that produced by melittin. It seems doubtful, however, whether this is the only molecular property responsible for the potentiation, as the detergent saponin does not have such an effect. Possibly melittin, in addition to having detergent effects interferes with the same membrane properties which are altered by the SH-reactants.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1912
    Keywords: Histamine ; Prostaglandin ; Mast Cells ; Cobra Venom ; Phospholipase A ; Direct Lytic Factor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The effect of Direct Lytic Factor (DLF) and phospholipase A (ph-ase A) from cobra venom, alone and in combination, on mast cell degranulation, histamine release and formation of prostaglandin-like activity (SRS-C) was studied in perfused guinea-pig lungs and in mast cell-containing rat peritoneal cell suspensions. For comparison, the effect of equivalent doses of whole cobra venom was investigated. 1. Cobra venom caused mast cell degranulation, histamine release and SRS-C formation in both systems. For comparable effects much higher doses had to be used in guinea-pig lungs than in rat peritoneal cell suspensions. 2. Ph-ase A showed little degranulation of mast cells in both systems, a limited histamine release in rat peritoneal cell suspensions and none in perfused guinea-pig lungs. It caused a considerable SRS-C formation in both, lung tissue and peritoneal cell suspensions. 3. DLF caused histamine release, SRS-C formation and mast cell degranulation in both systems; in rat peritoneal cell suspensions it acted almost as strong as equivalent doses of cobra venom, in guinea pig lungs it was much less active. 4. In rat peritoneal cell suspensions the effects of DLF and ph-ase A in combination did not exceed the sum of their single effects. In guinea-pig lungs these two substances interacted in a potentiating synergism. It is concluded that DLF is the main cytotoxic principle of cobra venom, whereas ph-ase A alone is not cytotoxic. The difference in the synergism of DLF and ph-ase A between rat peritoneal cells and guinea-pig lungs may be due to two different actions of DLF and species differences as regards sensitivity against these actions.
    Type of Medium: Electronic Resource
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