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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Details of haplotype and ΔF508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical status. Clinical details and DNA analyses from native English in the North-West and South-West of England (Bath), from Lancashire Pakistani families and from Afrikaans Namibian families are compared. A 78.5% incidence of ΔF508 has been found in English families. Compound heterozygotes with CF and only one ΔF508 gene have an increased likelihood of having milder disease, with lessPseudomonas isolated from sputum and relatively more showing either no regular respiratory pathogens or colonisation withStaphylococcus. There is also a relative increase in meconium ileus in these compound heterozygotes. The diagnosis of CF may be in doubt in some subjects negative for ΔF508. Some of the Bath families have unusual haplotypes for an English population and a compound heterozygote ΔF508/ΔI507 has been found. There is evidence from metD analysis of the founder effect in the Afrikaans Namibian families, who have a high ΔF508 incidence.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 156 (1997), S. 212-213 
    ISSN: 1432-1076
    Keywords: Key words Cystic fibrosis ; Genotype ; DF508 ; Romania
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method. Conclusion Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1717–2(A 〉 G).
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 108-111 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diagnosis becomes possible in 84% of cases. Only 1.19% of cases negative for the nine mutations have CF. The results of molecular analysis in this population have useful implications in respect of diagnosis validation and population carrier screening.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 248 (1998), S. 282-288 
    ISSN: 1433-8491
    Keywords: Key words Schizophrenia ; Immunology ; 60 kDa ; heat-shock protein ; IL-2R; subgroup
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Immunological abnormalities in schizophrenic patients have been reported for many years. However, the question of whether these parameters are involved in the pathophysiology of the disorder or represent treatment effects is still not answered. We investigated a combination of humoral and soluble immune parameters in 30 unmedicated schizophrenic patients before and during antipsychotic treatment and in 31 healthy controls. The aim of our study was to unravel an underlying immune process, to elucidate the influence of neuroleptic treatment and to identify a subgroup of schizophrenics. Antibodies against human 60-kDa heat-shock protein (HSP60), serum levels of soluble ICAM-1 and IL-2R were determined and correlated with parameters of blood–brain barrier and of psychopathology. In 10% of the drug-free but in 20% of the medicated schizophrenics, especially in females, we observed immunoreactivity against HSP60, high levels of IgG in CSF and a blood–brain barrier impairment. The high HSP antibody titres correlated with high levels of sIL-2R and sICAM-1. Only one of the controls showed antibodies against HSP60. Our results suggest that the observed immunological alterations are more pronounced during neuroleptic treatment than in the drug-free state. Whether or not this differential response to treatment with altered antibody production represents a subgroup of patients has yet to be determined.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Annali di matematica pura ed applicata 40 (1955), S. 349-364 
    ISSN: 1618-1891
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Notes: Sunto Si determinano le tensioni e le correnti in funzione del tempo, nei punti di mezzo delle bobine di una linea pupinizzata dissipativa, invertendo opportune transformate diLaplacemediante la formula diRiemann. I risultati ottenuti per la linea di lunghezza finita si estendono al caso della linea di lunghezza infinita. Per la linea di lunghezza finita le tensioni e le correnti vengono inoltre espresse in forma di serie.
    Type of Medium: Electronic Resource
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