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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 19 (2005), S. 0 
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Mitochondrial DNA (mtDNA) A7445G point mutation has been shown to be responsible for familial nonepidermolytic palmoplantar keratoderma (NEPPK) associated with deafness without any additional features. To date, only a few cases have been described. We report a Portuguese pedigree presenting an inherited combination of NEPPK and sensorineural deafness compatible with maternal transmission. Clinical expression and age of onset of NEPPK and deafness were variable. Normal expression patterns of epidermal keratins and filaggrin, intercellular junction proteins including connexin 26, loricrin and cornified envelope proteins, were observed. Molecular analysis revealed that all the affected members, previously screened for Cx26 mutations with negative results, presented the mtDNA A7445G point mutation in the homoplasmic form. To our knowledge, this is the fifth family in whom inherited NEPPK and hearing loss are related to this mitochondrial mutation.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 16 (2002), S. 0 
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 27 (1988), S. 0 
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The relationship between polyclonal B cell activation and immunosuppressor effects induced by F5'EP-Sm, a non-cytotoxic protein secreted by Streptococcus mutans, was studied in C57BL/6 mice. Mice created with F5'EP-Sm exhibited a considerable increase in splenic nonspecific Ig plaque-forming cells (PFC) compared with untreated mice. The isotypic pattern of non-specific PFC responses favours IgG2a∼IgG2b〉IgG3〉IgG1∼IgM, when taken as a ratio between treated and untreated animals. When F5'EP-Sm was administered 2 days before immunization with sheep red blood cells (SRBC), the non-specific PFC production was accompanied by an ephemeral increase in specific PFC against SRBC 1 day after immunization, which was quickly replaced by a strong immunosuppression. In contrast, when F5'EP-Sm was injected after priming, there was little or no demonstrable suppression of specific PFC, and the increase of non-specific PFC was much less evident. The kinetic curves representing increase or decrease in relation to controls of specific and non-specific PFC are almost mirror images in each of the isotypes. The in vivo suppressor effect was abrogated in thymectomized mice, although the involvement of the T cell compartment is probably secondary to the B cell mitogen effect, since T-depleted spleen cells proliferate and synthesize non-specific Ig when stimulated in vitro with F5'EP-Sm.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: In families afflicted with haemophilia A, genetic counselling is often requested. Inversion mutations and polymorphic sites of the FVIII gene have been examined in a Brazilian population, with the aim of developing a strategy that would be accurate and informative for carrier analysis and prenatal diagnosis in Brazil. Patients with haemophilia A and families were studied. Inversion mutations in the FVIII gene were detected in 39.4% of severely affected patients, 85% of them being of distal type. No inversions were observed in patients with mild or moderate forms of the disease. Two bi-allelic polymorphisms were studied. Intron 18 SSCP and intron 19 RFLP analyses indicated the presence of a restriction site in 39.5% and 42.9% of haemophilics, respectively. Two multiallelic microsatellite polymorphisms in introns 13 and 22 were also studied; eight different alleles were detected in each system with a heterozygosity rate of 83.08% and 78.77%, respectively. When all four intragenic loci were examined in linkage analysis, the cumulative reliability was 100%. In conclusion, inversion mutation analysis should be the first-line test for Brazilian patients with severe haemophilia A. In cases of severe haemophilia A where no inversion could be detected or in mild or moderate haemophilia A, the use of all four polymorphisms is very informative for linkage analysis and should be used for carrier detection and genetic counselling in the Brazilian population.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford UK : Blackwell Science Ltd
    Histopathology 40 (2002), S. 0 
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 16 (2002), S. 0 
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Aim To review the clinical and histological data of 20 cases of dermatofibrosarcoma protuberans presenting at two dermatology centres in Lisbon from 1978 to 1998.Patients and methods The 20 subjects comprised nine males and 11 females ranging in age from 25 to 79 years, with highest frequency of subjects in the 30–50 year olds. We reviewed the clinical features, histopathological aspects, including morphologic variants and immunohistochemical studies.Results Median age at diagnosis was 51 years and the trunk was the most frequent location. The characteristic histologic storiform pattern was seen in all cases. Three subjects presented fibrosarcomatous areas, one with myoid differentiation and another with multinucleated giant cells. Immunohistochemical stains revealed CD34 expression in the 18 specimens tested, FXIIIa was negative, and these two antigens proved important for the differential diagnosis of this neoplasm. Local wide excision was performed in 13 cases and seven patients underwent Moh's micrographic surgery. Follow-up ranged from 2 months to 17 years and three recurrences were recorded, two following classical surgery and one after Moh's surgery; there was no difference in the rate of local recurrence (15%) for the two kinds of treatment in our series.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of the European Academy of Dermatology and Venereology 16 (2002), S. 0 
    ISSN: 1468-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 30 (1989), S. 0 
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The development of non-specific immunosuppression during the infection of different strains of mice with three mycobacterial species was evaluated by studying the immune response to a heterologous antigen (sheep red blood cells) and comparing it with the induction of non-specific resistance to a Listeria monocytogenes challenge. It was shown that early (at 15 days) immunosuppression developed in Mycobacterium avium-susceptible mouse strains infected with a high inoculum dose [2.5 ± 106 colony forming units (CFU)] of virulent M. avium but not in resistant mice infected with a similar inoculum nor in susceptible mice infected by a smaller inoculum dose (2.5 ± 106 CFU). In the latter case it developed only during the second month of infection and was of smaller magnitude. An inoculum of M. avium of attenuated virulence did not induce immunosuppression. M. lepraemurium induced a late immunosuppression, which occurred when extensive bacterial proliferation had already taken place. The non-pathogenic M. bovis BCG induced immunosuppression in C57BL/6 mice. The results do not establish a correlation between the development of generalized immunosuppression and susceptibility to infection. It could be seen that the early immunosuppression was observed in those situations where there was extensive macrophage activation as shown by the development of non-specific resistance to a listeria challenge. The late immunosuppression was observed when bacterial proliferation was extensive.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: C57BL/6 mice thymectomized as adults or depleted of CD4+ cells were much less susceptible than intact conventional mice to the B-cell mitogenic and specific immunosuppressive effects of a protein designated as F5′EP-Sm secreted by Streptococcus mutans. These mice were also considerably more resistant to infection by these bacteria than intact individuals. The immunosuppressor effect of F5′EP-Sm was also abrogated, however, in conventional intact mice when immunized intraperitoneally against heat-inactivated F5′EP-Sm. On the other hand, resistance to bacterial infection could be achieved by immunization of conventional intact C57BL/6 mice against heat-inactivated F5′EP-Sm by intraperitoneal or intradermal routes even when the animals were infected 3 months after immunization and even when the immunization procedure did not include Freund's adjuvant, which was the case with the intradermal route. Interestingly, the protection against the bacterial infection was accompanied by only a minor increase in specific serum antibodies against F5′EP-Sm.These results are discussed in the context of adequate strategies for immunoprotection against Streptococcus mutans and other micro-organisms which are secretors of substances that share both B-cell mitogenic and immunosuppressive properties and which are thus able to suppress the immune response by overstimulation of the immune system of the host.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of thermal analysis and calorimetry 49 (1997), S. 657-661 
    ISSN: 1572-8943
    Keywords: carbonaceous products ; DTA ; material characterization ; TG
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Notes: Abstract Thermogravimetry and differential thermal analysis, using only a combustion step with oxygen, were used to characterize carbonaceous products. Binary composition of alumina and wood charcoal, coke, carbon black, petroleum coke or carbon graphite were prepared containing 5 wt% of each. They were characterized by the burnout onset and DTA and DTG peak temperatures, which range from 476°C for wood charcoal to 790°C for carbon graphite. Complementary characterization of each product was also performed by estimating the ash content from the TG curves, and the calorific value from the DTA curves. The results indicate that these thermal analysis techniques, with only one oxygen burnout step, can be applied both for quality control of each raw material, and to determine the appropriate processing temperatures of the ceramic compositions in which they are used.
    Type of Medium: Electronic Resource
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