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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Huntington's disease (HD) is a neurodegenerative and hereditary disease characterized by progressive movement disorders and mental and behavioral abnormalities. The HD gene is an expanding and unstable trinucleotide repeat (CAG repeat sequences). We studied 77 individuals from 38 families with HD in an attempt to obtain information for genetic counselling and differential diagnosis. Our results indicate that individuals with more than 40 repeats will be affected by the disease, whereas those with fewer than 30 will be healthy. There can be some overlap between 30 and 40 repeats, and one should be careful when interpreting these results.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Spanish cystic fibrosis (CF) families (n = 194) have been analysed for the ΔF508 mutation, and for closely linked DNA markers. The ΔF508 mutation accounts for 50% of CF chromosomes. Four haplotypes are associated with the deletion, and at least seven haplotypes carry other mutations. The second major CF mutation is associated with pancreatic insufficiency and occurred in the same haplotype in which the ΔF508 arose. Only 31% of Spanish CF patients with no family history of the disease can be accurately diagnosed; about 50% of CF carriers can be detected in the Spanish population.
    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 We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples. In the second case the study was done at 12 weeks; eight tissues (including brain) were studied and compared with the CVS; in all of them, 44 CAG repeats were obtained. Our results show a somatic stability in the different analyzed tissues and suggest that mitotic instability can be a secondary consequence of neuronal degeneration and gliosis. Likewise, our data show great viability in the prenatal diagnosis (PD) of Huntington's disease using samples from any tissue.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 465-466 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 55 (1999), S. 487-488 
    ISSN: 1432-1041
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1041
    Keywords: Mephenytoin ; Pharmacogenetics ; polymorphism ; drug metabolism ; phenotype ; caucasian
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary We have investigated the prevalence of poor metabolisers (PM) of S-mephenytoin in 373 unrelated, healthy Spanish Caucasian subjects, based on the enantiomeric S/R mephenytoin ratio in urine collected 0–8 h and 24–32 h after intake of the racemic drug. Five of the subjects were PM (1.34%, 95% confidence interval 0.18–2.59%), a prevalence lower than in 6 other Caucasian populations, but only significantly lower than in studies in France and Switzerland (P〈0.01). We suggest that this difference might be due to the use of different phenotyping procedures.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 41 (1991), S. 467-470 
    ISSN: 1432-1041
    Keywords: Debrisoquine oxidation ; Neuroleptics ; phenothiazines ; thioridazine ; haloperidol ; clothiapine ; phenotypic change
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary. The debrisoquine oxidation phenotype was determined in 91 schizophrenic patients on monotherapy with different neuroleptics and in 67 untreated healthy volunteers. The prevalence of poor metabolizers of debrisoquine was significantly higher in the patients (46.2%) than in the healthy subjects (7.5%). Treatment with phenothiazine antipsychotics (chlorpromazine, levomepromazine and thioridazine) was associated with a higher debrisoquine metabolic ratio than treatment with haloperidol. On the other hand, treatment with clothiapine appeared not to interfere with debrisoquine oxidation. Oral administration of 50 mg thioridazine daily to 8 healthy subjects resulted in a marked increase in the debrisoquine metabolic ratio and 4 of them were transformed into phenotypically poor metabolizers. The results confirm the fact that phenothiazines, and to a lesser extent haloperidol, inhibit the oxidative metabolism of debrisoquine. They show also that clothiapine administration does not disturb the debrisoquine metabolic ratio.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 40 (1991), S. 525-527 
    ISSN: 1432-1041
    Keywords: Colon cancer ; polymorphism ; debrisoquine ; rectal cancer ; cytochrome P 450
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The oxidative polymorphism of debrisoquine (DBQ) has been determined in 89 patients with colo-rectal cancer and in 556 normal control subjects. Four patients and 34 controls, with a metabolic ratio 〉12.6, were classified as poor metabolisers of DBQ (n.s.). No difference was found in the distribution of the frequencies of the MR of DBQ between patients and controls. It is concluded that polymorphic oxidation of DBQ is not related to the risk of developing colo-rectal cancer in human beings.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 37 (1989), S. 391-393 
    ISSN: 1432-1041
    Keywords: Parkinsonism ; acetylator phenotype ; sulphamethazine ; debrisoquine oxidation ; drug polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary Acetylator phenotype has been determined using sulphamethazine in 100 patients with Parkinson's disease and in 93 age-matched normal control subjects. Sixty-nine patients and 54 control subjects were classified as slow acetylators (NS). No relation was found among acetylator polymorphism and age at onset or clinical stage of disease. Amongst slow acetylators, the percentage of acetylated sulphamethazine in plasma was significantly lower in patients than in controls. Despite this finding, the results do not support any relationship between acetylator polymorphism and the risk of developing Parkinson's disease.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of clinical pharmacology 42 (1992), S. 151-154 
    ISSN: 1432-1041
    Keywords: Antidiabetic drugs ; drug utilization ; health care systems ; Spain ; DDD
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The consumption of antidiabetic drugs in a Spanish region (Extremadura) in the period 1986–1987 has been investigated by the “defined daily dose” (DDD) method. The study was done in three health care systems in the region: civil servants (“Mutualidad de Funcionarios Civiles del Estado: MUFACE”) armed forces group (“Instituto Social de las Fuerzas Armadas: ISFAS”) and the national system (“Instituto Nacional de la Salud: INSALUD”). The total consumption of antidiabetic drugs varied three-fold, ranging from 5,73 DDD per 1000 inhabitants per day (3,71 DDD per 1000 inhabitants per day for oral antidiabetic drugs and 2,02 DDD per 1000 inhabitants per day for insulin) in the civil servant group to 15,82 DDD per 1000 inhabitants per day (12 DDD per 1000 inhabitants per day for oral antidiabetic drugs and 3,82 DDD per 1000 inhabitants per day for insulins) in the armed forces. The differences were more pronounced for oral antidiabetics than for insulins. The utilization of insulin among the civil servants was about half of that by the two other groups. Of oral antidiabetics, sulphonylureas were the most frequently used by the three groups, and within them glibenclamide accounted for more than half of the DDDs, while biguanides were scarcely used in any group. The differences are difficult to assess, since they could be due to several factors, such as age-differences in the population studied, different prescribing habits, and differences in sociocultural level. The results justify further comparative studies of drug utilization in different health systems within the same region.
    Type of Medium: Electronic Resource
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