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  • 1
    ISSN: 0942-0940
    Keywords: Mucocele ; skull base tumour ; sphenoid sinus ; sella turcica ; orbital tumour
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The authors present five patients with mucocele, submitted to neurosurgery. Two had mucoceles spreading from the frontal and/ or the anterior ethmoidal sinuses and had only compressive mass symptoms, either on the ocular globe or on the frontal lobe or on both. Three patients had mucoceles growing from the sphenoid and/ or posterior ethmoidal sinuses. In these latter, the mass symptoms were less evident. All the patients suffered excruciating retro-ocular pain and two presented cranial nerve damage. The correct diagnosis in these cases is crucial to avoid a too aggressive treatment since these patients are generally sent to a neurosurgeon for a suspected cranial base malignancy or an invasive pituitary adenoma. The principles of a correct differential diagnosis and of operative treatment are outlined based on an analysis of the literature and the authors experience.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Type Ia glycogen storage disease (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Recent cloning of the G6Pase gene and the subsequent identification of several disease-causing mutations have shown an ethnic molecular heterogeneity. Using SSCP analysis and DNA sequencing, we characterized the G6Pase gene of 53 unrelated Italian patients. The two most common mutations, R83C and Q347X, accounted for 66.9% of the mutant alleles. Eight novel mutations and three rare mutations were identified in 15.7% of disease alleles. These results suggest that a DNA-based method can be used as an initial screening in Italian patients clinically suspected of having GSD1a, avoiding liver biopsy for enzymatic diagnosis. In particular, a noninvasive diagnosis is a suitable method for the Italian subpopulation coming from Sicily, where the R83C mutation is present in 80% of mutant alleles. Molecular carrier detection and prenatal diagnosis can be provided to GSD1a families with identified mutation in the propositus.
    Type of Medium: Electronic Resource
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