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  • 2005-2009  (2)
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  • 1
    ISSN: 1365-2214
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine , Psychology
    Notes: Background  Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations.Methods  We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype.Results  In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS.Conclusions  Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Oxford, UK : Munksgaard International Publishers
    Allergy 60 (2005), S. 0 
    ISSN: 1398-9995
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  Exposure to platinum group elements (PGEs) – platinum (Pt), palladium (Pd), rhodium (Rh) and iridium (Ir) – may cause acute toxicity or hypersensitivity with respiratory symptoms, urticaria and (less frequently) contact dermatitis. Our aim was to determine the prevalence and the clinical characteristics of hypersensitivity to platinum salts and to other elements of the platinum group.Methods:  A total of 153 subjects working in a catalyst manufacturing and recycling factory were examined. The examination consisted of a work exposure and medical questionnaire, physical examination, skin prick test for PGEs and other common aeroallergens, and patch tests for PGEs. Skin prick tests and patch tests were performed with H2[PtCl6], K2[PtCl4], Na2[PtCl6], IrCl3, RhCl3, PdCl2, aqueous solutions at different concentrations.Results:  Positive prick test reactions to Pt-salts at various concentrations were found in 22 (14.4%) of 153 workers; eight had simultaneous reactions to all Pt-salts tested; seven had positive responses to H2[PtCl6] only; four had simultaneous positive reactions to both H2[PtCl6] and K2[PtCl4]; three had positive reactions to H2[PtCl6] and Na2[PtCl6]. Three of 22 had positive reactions to H2[PtCl6] and IrCl3 solutions, two of these had positive reactions to H2[PtCl6], IrCl3 and RhCl3 solutions. Positive patch test reactions to platinum salts at day 2 were seen in two of 153 subjects.Conclusions:  The results of this study demonstrate that Pt-salts are important allergens in the catalyst industry and that the clinical manifestations involve both the respiratory system and the skin. Hexachloroplatinic acid should be considered the most important salt to use for skin prick tests.
    Type of Medium: Electronic Resource
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