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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 103-103 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have identified a novel T-insertion polymorphism located in the second intron of the dystrophin gene. This polymorphism should prove useful in linkage studies in Duchenne and Becker muscular dystrophy families in addition to the previously described markers.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 415-415 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cystic fibrosis (CF) is a relatively uncommon genetic disorder in the Sardinian population. In this study, we have defined the frequency of the most common CF mutation (ΔF508) and carried out a genotypephenotype correlation analysis in a group of 21 patients with CF and of Sardinian descent. We detected the ΔF508 mutation in 24 (57%) out of the 42 CF chromosome investigated. This mutation was found in the homozygous state in 9 patients and in the heterozygous state in 6 patients. The remaining 6 patients had other mutations. The ΔF508 mutation was associated only with the KM19/XV2c 2 1 haplotype. Genotype-phenotype correlation analysis did not give clear-cut results, probably because of the small number of patients investigated. However, out of the four patients with meconium ileus, three were homozygous and one was heterozygous for the ΔF508 mutation, confirming that the presence of ΔF508 or other severe mutations in the homozygous state is the prerequisite for the development of meconium ileus.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Mucopolysaccharidoses ; Sanfilippo D disease ; N-acetylglucosamine-6-sulfate sulfatase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A fourth genetic subtype of the Sanfilippo syndrome due to a deficiency of N-acetylglucosamine-6-sulfate sulfatase which is required for heparan sulfate degradation has recently been described. The clinical findings of two patients with a deficiency of this enzyme are reported here. Differential diagnosis from the other types of the Sanfilippo syndrome cannot be made by clinical criteria, but rests on specific enzyme assays. Since patients of either sex are known and consanguinity was present in one case, autosomal recessive inheritance is most probable.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 150 (1991), S. 413-415 
    ISSN: 1432-1076
    Keywords: Red blood cell indices ; Heterozygous β-thalassaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of β°-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were about 2 g/dl below those of normal controls with a progressive increase with age parallelling the normal developmental trend. The Hb increase with age was due to a progressive rise in the Hb content per cell, the number of RBC remaining nearly constant. MCV and MCH values also increased with age with a pattern parallel to normal control. Because of the high prevalence of α-thalassaemia in the Sardinian population, to which all the subjects investigated belong, the 3rd MCH-MCV percentile curves of normal overlap the 97th curve of β-thalassaemia heterozygotes. The HbA2 levels, however, were always increased as compared to normal. These results confirm in children than screening for heterozygous β-thalassaemia in populations with a high incidence of α and β-thalassaemia by MCV-MCH determination may overlook a sizeable proportion of β-thalassaemia carriers. The knowledge of the extent of variation of RBC indices of β-thalassaemia heterozygotes during infancy, childhood and adolescence, is very useful for the evaluation of a child presenting with a mild microcytic anaemia.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 110-112 
    ISSN: 1432-1076
    Keywords: Key words: Growth hormone – Hypothalamus – Ring chromosome – Short stature
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We report on a boy with a ring 18 chromosome associated with hypothalamic growth hormone (GH) deficiency. A 12-month trial of GH replacement therapy (0.5 U/kg/week) resulted in a marked growth acceleration. Our findings emphasise the need of evaluating GH secretion in patients with abnormalities of the 18 chromosome.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Key words Hyperbilirubinemia ; Neonatal jaundice ; Glucose-6-phosphate dehydrogenase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The pathogenesis of neonatal hyperbilirubinemia has not yet been completely defined in normal and glucose-6-phosphate-dehydrogenase (G6PD)-deficient newborns. The recent identification of a variant promoter in the gene encoding for the bilirubin uridine-diphosphoglucuronosyl-transferase (UGT-1 A) associated with Gilbert's syndrome, allowed us to explore whether the presence of this variant promoter is a risk factor for the development of neonatal hyperbilirubinemia in normal newborns and in association with G6PD deficiency. We found that the variant (TA)7/(TA)7 promoter shows no statistically significant difference in normal or G6PD-deficient newborns developing severe hyperbilirubinemia and in control subjects from the same population. This finding indicates that the variant promoter of UGT-1 A does not contribute to the development of hyperbilirubinemia in the newborn.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: HIV infection ; Acquired immunodeficiency syndrome ; AIDS-related complex ; Thalassaemia major ; Transfusion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We investigated the incidence, clinical and immunological characteristic of human immuno-deficiency virus (HIV) infection in a group of multi-transfused patients with thalassaemia major who were exposed to transfusion-associated HIV infection. Seropositivity to HIV by Western blot and immunofluorescence analysis was detected in 26 out of 590 patients. At a follow up 21–40 months later, none of these seropositive patients had developed acquired immuno-deficiency syndrome (AIDS), and six manifested the AIDS related complex (ARC). ARC was unusually mild and consisted of moderate laterocervical and submandibular lymph node enlargement associated with hypergammaglobulinaemia and a reduced CD4/CD8 ratio resulting from the decreased number of CD4 lymphocytes. These findings suggest that multi-transfused patients with thalassaemia major are relatively resistant to the development of severe manifestations of HIV infection, presumably because their immune status is relatively better preserved than that of other infected population. Longer follow up is, however, necessary to determine whether the incidence of AIDS will be lower in this population or whether overt AIDS merely takes longer to develop.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Key words Wilson disease ; Molecular pathology ; Neurological features
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of neurological impairment but absent hepatic manifestations. Molecular analysis showed compound heterozygosity for two frameshift mutations, 2299insC and 214delAT, which most likely result in an absent or inactive protein product. Mutation-phenotypic analysis indicates that this genotype does not explain the severe phenotype, suggesting the presence of modifying factors. Conclusion Wilson disease may present even in childhood or adolescence with neurological abnormalities in the absence of hepatic manifestations.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 113 (1972), S. 289-296 
    ISSN: 1432-1076
    Keywords: Serum Alkaline Phosphatase ; Acrylamide Gel Disc Electrophoresis ; L-phenylalanine Inhibition ; L-Homoarginine Inhibition ; Neuraminidase Sensitivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung In 364 Seren von Neugeborenen (Nabelschnurblut), Säuglingen, Kindern und Erwachsenen wurde die vorhandene alkalische Phosphatase genauer differenziert unter Anwendung der L-Phenylalaninhemmung, der L-Homoargininhemmung, der Hitzedenaturierung, der Arcylamidgel-Scheibenelektrophorese und der Neuramidaseempfindlichkeit. Die hohen Werte der alkalischen Phosphatase im Nabelschnur-, Säuglings-und Kinderserum im Vergleich zu den Erwachsenenwerten werden mehr den Phosphatasen der Knochen als den intestinalen Phosphatasen zugerechnet. Mit Hilfe der Acrylgelelektrophorese konnte eine Zunahme der intestinalen alkalischen Phosphatase mit steigendem Lebensalter nachgewiesen werden.
    Notes: Abstract In 364 serum samples of cord blood, infants, children, and adults alkaline phosphatase was characterized by means of L-phenylalanine inhibition, L-homoarginine inhibition, heat inactivation, acrylamide gel disc electrophoresis, and neuraminidase sensitivity. The increase of serum alkaline phosphatase in cord blood serum and in infant's and children's serum in comparison with adult levels was attributed mainly to the bone enzyme and in smaller proportion to the intestinal enzyme. Using acrylamide gel disc electrophoresis, an increase in the frequency of subjects with an intestinal alkaline phosphatase band with increasing age values was found.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: β-thalassemia intermedia ; Subcutaneous desferrioxamine ; Iron overload
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This study on serum ferritin levels ind urinary iron excretion after 12h subcutaneous infusion of desferrioxamine in 10 thalassemia intermedia patients shows that even nontransfusion-dependent patients may have positive iron balance resulting in iron overload from 5 years of age. However, the iron overload found in these patients appears to be much lower than in age matched patients with transfusion-dependent thalassemia major. Iron overload increases with advancing age, as shown by increasing serum ferritin levels and desferrioxamine-induced urinary iron elimination. After a six month trial of 12h continuous subcutaneous desferrioxamine administration there was a significant decline in serum ferritin levels. From this study it seems that iron chelation is indicated in thalassemia intermedia patients over 5 years of age in order to prevent iron accumulation. However, the appropriate treatment schedule should be tailored to the individual needs of each patients, established by close monitoring of serum ferritin levels and desferrioxamine-induced urinary iron elimination.
    Type of Medium: Electronic Resource
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