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  • 1
    Electronic Resource
    Electronic Resource
    Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 720-726 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. To date, a relatively small number of NF1 mutations have been characterized, thus precluding genotype-phenotype correlations. By genotyping 75 NF1 families, we have detected six hemizygous patients (two of whom are members of the same family). The five presumed deletions were confirmed by two quantitative methods of analysis of NF1 copy number: Southern hybridization with cDNA probes and a single-strand conformation polymorphism analysis that discriminates between the NF1 gene and the pseudogene sequences. The five deletions remove most of the NF1 gene, at least 225 kb, from exon 9 to the 3′ end of the coding sequence. The origin of de novo mutations in the NF1 gene has been reported to be mainly paternal but we have determined that four of the de novo deletions involved the maternal chromosome and one the paternal chromosome. The six patients with deletions exhibited precocious, multiple clinical features of the disease. The incidence of tumor complications, particularly plexiform neurofibromas and intracranial tumors, among this group of patients is higher than the observed incidence in our NF1 population, suggesting that NF1 haploinsufficiency may cause a more severe phenotype with regard to tumor development. In contrast to other reports that associated large deletions with mildly dysmorphic facies, mental retardation and a large number of cutaneous neurofibromas, only one out of our six patients presented this phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050438
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  • 2
    Electronic Resource
    Electronic Resource
    Calcitonin and bisphosphonates treatment in bone loss after liver transplantation (1995)
    Springer
    Calcified tissue international 57 (1995), S. 15-19 
    Details
    ISSN: 1432-0827
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract Osteopenia is a major complication of orthotopic liver transplantation (OLT). However, no effective therapy for bone disease has been defined. We have studied vertebral bone mineral density (VMD) and fasting serum markers of bone formation [bone gla protein (BGP), procollagen I carboxyterminal peptide (PICP)] and metabolism (serum Ca, P, intact parathyroid hormone (iPTH), 25OHD3 and 1,25(OH)2D3) in 120 patents after OLT. VMD was measured by dual-energy X-ray absorptiometry (DXA) using a Hologic QDR 1000 densitometer on two occasions, 12 months apart. Patients with OLT had a VBD significantly lower compared with age- and sexed-matched Spanish controls (P〈0.05). Prevalence of osteoporosis (Z score below-2 SD) was 35.8%. Serum BGP (8.6±0.7 ng/ml) and PICP (222.9±81.9 ng/dl) were higher than those of controls. However, serum calcium, phosphorus, iPTH, 25OHD3, and 1,25(OH)2D3 were within normal range. Patients with osteoporosis were randomly treated with 40 IU/day of calcitonin i.m. (Diatin, Ferrer Int. Laboratories) (n=17) or 400 mg p.o., 15 days every 3 months, of sodium ethiodronate (Difosfen, Rubio Laboratories) (n=23). All patients received 500 mg/12 hours of elemental calcium p.o. After 12 months of treatment, a significant increment of vertebral mineral density (VMD) was observed (6.4% and 8.2%, respectively). Serum BGP and PICP values remained elevated without a difference between the two drugs. Our results indicate that antiresorptive drugs may be of benefit in the high turnover osteoporosis of OLT recipients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00298990
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  • 3
    Electronic Resource
    Electronic Resource
    Fasciola hepatica development in the experimentally infected black rat Rattus rattus (1998)
    Springer
    Parasitology research 84 (1998), S. 188-194 
    Details
    ISSN: 1432-1955
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The finding of natural infection of Rattus rattus by Fasciola hepatica on Corsica has stimulated further research into the role of the black rat in the epidemiology of fascioliasis. Corsican black rats were experimentally individually infected with 20 metacercariae from cattle and murine isolates obtained from naturally infected bovines and black rats. The following results were obtained: (a) in R. rattus infected with the cattle isolate, normal adult fluke development took place and infection persisted for a long period, with emission of eggs showing embryogenic capacity; (b) the development of F. hepatica adults paralleled the ontogenetic trajectories observed in other rodent-F. hepatica models; and (c) fluke adults obtained in R. rattus infected with the murine isolate exhibited a similar pattern. These findings strongly suggest that the black rat may be one of the wild reservoirs of F. hepatica and may have contributed to the large geographical extent of the disease on Corsica.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004360050381
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  • 4
    Electronic Resource
    Electronic Resource
    Genetic structure of natural populations of Gelidium species: A re-evaluation of results (1998)
    Springer
    Journal of applied phycology 10 (1998), S. 279-284 
    Details
    ISSN: 1573-5176
    Keywords: Canary Islands ; electrophoresis ; F-statistics ; Gelidium canariensis ; Gelidium arbuscula ; genetic distance ; genetic structure ; isozymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Twenty-two loci were re-evaluated to assess genetic variation and differentiation in three natural populations (two from Gran Canaria and one from Tenerife) of Gelidium (G. canariensis and G. arbuscula). The new data using exclusively the diploid subpopulation gene frequencies confirm that dispersal was restricted over short distances for the two species, but contrary to previous conclusions, the data reveal that these two closely related species differed markedly by their mating systems and patterns of genetic differentiation. Genetic differentiation among populations was twice as high in G. arbuscula as in G. canariensis. It was confirmed that the mean way of reproduction is asexual in G. arbuscula and a discussion included as to how clonal propagation may explain the difference in haploid and diploid allele frequencies in this species. There was no evidence for asexual reproduction in G. canariensis. Heterozygote deficiency could be explained simply by spatial sub-structuring within populations. The importance of the sampling design in determining the level and pattern of genetic differentiation within a species is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008092023549
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