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  • 11
    ISSN: 1432-1076
    Keywords: Primary hypothyroidism ; Pituitary enlargement ; Slipped capital femoral epiphysis ; Cystic ovaries
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of primary hypothyroidism with pituitary enlargement, slipped capital femoral epiphysis and cystic ovaries is reported. The pituitary abnormality and cystic ovaries disappeared dramatically after thyroid hormone therapy. Hip pinning was performed. The recognition of these associations may eliminate unnecessary surgery and lead to the choice of hormone replacement therapy.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 134 (1980), S. 121-124 
    ISSN: 1432-1076
    Keywords: Copper deficiency ; Erythrocyte superoxide dismutase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a patient with typical copper deficiency, we found superoxide dismutase (SOD, 1.15.1.1) activity and copper in erythrocytes to be decreased to 52% and 46% of age-matched controls, respectively. However, these were not so markedly depleted as plasma copper (17%) or ceruloplasmin (20%). After copper replacement therapy, erythrocyte copper and SOD activity gradually returned to the control levels. Although certain abnormalities reported in copper deficiency in animals were expected, osmotic fragility of erythrocytes of the patient was normal and damage of the liver and heart were not a feature as far as could be determined by electrocardiography and routine laboratory examinations. Probably a decrease of SOD to this extent is not severe enough to lead to superoxide-induced damage.
    Type of Medium: Electronic Resource
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  • 13
    ISSN: 1432-1076
    Keywords: Atypical PKU ; Deficiency of dihydrobiopterin ; Neurotransmitter treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A fourteen month-old boy with atypical phenylketonuria was treated with 5-hydroxytryptophan, L-dopa and peripheral aromatic amino acid decarboxylase inhibitor (Ro 4-4602:benserazide). Despite the good control of plasma phenylalanine on a low phenylalanine diet, he had shown no improvement in his development but progressive neurological symptoms, such asiirritability, convulsions and decrease voluntary movement. After beginning neurotransmitter therapy, his irritability disappeared promptly and the other symptoms diminished. He gradually reached his developmental milestones. At two and a half years of age, he had recovered sufficiently to be able to walk freely on treatment with 13 mg/kg/day of 5-hydroxytryptophan, 11 mg/kg/day of L-dopa and 2.7 mg/kg/day of benserazide in combination with slight restriction of phenylalanine intake (100 mg/kg/day). Levels of serotonin and 5-hydroxyindoleacetic acid were low in the patient's CSF. His urinary biopterin (Crithidia factor) excretion was low. An increase in serum biopterin following L-phenylalanine loading was not found. Dihydropteridine reductase activity in his skin fibroblasts was normal. He excreated large amounts of erythro- and threo-neopterins (but only a trace of biopterin) in his urine. After loading with phenylalanine the urinary excretion of neopterins was even more enhanced, but biopterin remained at low levels. These findings indicated that the patient has a dihydrobiopterin synthetase deficiency.
    Type of Medium: Electronic Resource
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  • 14
    ISSN: 1432-1076
    Keywords: Adenosine deaminase ; Heterozygote ; Immunodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the second and third families with ADA deficiency found in Japan, we tried a new approach to evaluate heterozygote detection. This is based on the hypothesis that ADA activity of red blood cell is the quantitative sum of the activities of ADA proteins expressed by two allelic genes at the ADA autosomal locus, and that these activities are not changed by the gene transmission from parents to children. We have detected red blood cell-ADA activities expressed by the one normal allelic gene in heterozygotes (including parents and paternal or maternal grandfather or grandmother) and from these values have determined combinations for the pair of ADA activities expressed by the two allelic genes of other family members. These combinations were consistently made in all relatives examined in the two families, and we conclude that several members of each family who were judged to have nil activity in the combinations were heterozygotes for ADA deficiency.
    Type of Medium: Electronic Resource
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  • 15
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 139 (1982), S. 81-84 
    ISSN: 1432-1076
    Keywords: Hypopituitarism ; Transsphenoidal meningoencephalocele ; Midline craniocerebral and midfacial anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 12-year-old boy with growth hormone deficiency and partial diabetes insipidus resulting from transsphenoidal meningoencephalocele and with eye abnormalities is described. Fifteen other patients with transsphenoidal meningoencepalocele have been reported. Hypothalamic-pituitary dysfunctions were diagnosed by endocrinological studies in seven cases. It is important to recognize transsphenoidal meningoencephalocele as a cause of hypopituitarism, since some cases may have gone unrecognized. The association of hypothalamic-pituitary dysfunction and a midline craniocerebral anomaly has been reported in patients with cleft lip and/or palate, septo-optic dysplasia, the holoprosencephalies, and Kallmann syndrome. However, there was no evidence of transsphenoidal meningoencephalocele in these disorders and this may be a different form of midline craniocerebral and midfacial anomaly.
    Type of Medium: Electronic Resource
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  • 16
    ISSN: 1432-1041
    Keywords: Key words  ACAT inhibitor ; YM17E ; Pharmaco- kinetics ; Hypocholesterolaemic activity ; Tolerability ; Volunteers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract   We conducted a single and repeat oral dose study of YM17E, a novel inhibitor of acyl coenzyme A (CoA): cholesterol acyltransferase, in healthy male volunteers to evaluate the pharmacokinetic profile, tolerability and effect of the drug on serum cholesterol. In the single administration study, YM17E was administered after a meal to two groups of subjects (each containing six subjects taking the drug and three taking placebo) receiving 3, 60 and 300 mg or 15, 60 and 450 mg YM17E, respectively. Plasma concentrations of unchanged drug following single oral administration at 3–300 mg after a meal increased with increasing dose. In contrast, plasma concentrations after administration of 450 mg were almost the same as after 300 mg. Unchanged YM17E was not detected in urine after single administration, suggesting that it was excreted via the bile or urine after metabolism. Five active metabolites (M1, M2-a, M2-b, M3 and M4) were observed in plasma at concentrations comparable to those of unchanged YM17E. Their plasma concentrations increased in a slightly greater than dose-dependent manner from 3 to 300 mg. The effect of food was studied in an open crossover design with a 1-week washout period. Twelve subjects received 150 mg YM17E in both the fasted and postprandial states. The AUC and Cmax after fasting were closely similar to those after a meal, showing that bioavailability was not affected by food intake. In the repeated oral dose study, the subjects received test drug at 150 mg or 300 mg (n = 6 each) or placebo (n = 3) twice a day (after breakfast and after dinner) for 7 days. On days 1 and 7, the subjects received YM17E once a day (after breakfast) for evaluation of pharmacokinetic properties. After repeated oral administration of 150 mg b.d., plasma concentrations reached steady state by day 5 (mean Cmin 48.6 ng · ml−1). After repeated administration of 300 mg b.d., plasma concentrations prior to each daily morning dose increased up to the 5th day (mean Cmin 166.6 ng · ml−1) and then tended to decrease until the 7th day. No significant signs, symptoms or changes in serum cholesterol levels were observed during the single and repeated oral dose studies at 150 mg b.d. Although statistical analysis was not conducted because of the small number of subjects, all subjects receiving repeated oral administration of 300 mg twice daily showed a 25% decrease in serum cholesterol level on day 7, but also the simultaneous occurrence of diarrhoea.
    Type of Medium: Electronic Resource
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  • 17
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 120 (1984), S. 879-884 
    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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  • 18
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 153 (1988), S. 818-824 
    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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  • 19
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 105 (1982), S. 539-545 
    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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  • 20
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 153 (1988), S. 818-824 
    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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