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  • 1
    ISSN: 1432-1076
    Keywords: Key words Phenylketonuria ; Genotype ; Treatment ; IQ
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, long-term dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between the parameter describing the fluctuation of the Phe values and the IQ, as well as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hyperphenylalaninaemic disorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite of the genetic make-up.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Der Chirurg 68 (1997), S. 279-282 
    ISSN: 1433-0385
    Keywords: Key words: Intermuscular lipoma ; Intramuscular lipoma ; Infiltrating lipoma ; Treatment ; Diagnosis. ; Schlüsselwörter: Intermusculäres Lipom ; intramusculäres Lipom ; infiltrierendes Lipom ; Diagnose ; Therapie.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung. Intramusculäre Lipome sind seltene benigne Tumore, die wegen ihres nicht abgrenzbaren Wachstums auch als infiltrierende Lipome bezeichnet werden und tief lokalisiert die Skelettmuskulatur befallen. Klinisch imponiert als einziges Symptom eine palpable Raumforderung. Mikroskopisch findet sich zwischen den Muskelfasern monovacuoläres Fettgewebe, welches die Myocyten verdrängt. Im Extremfall kann die präexistente Muskulatur völlig durch Fettgewebe ersetzt werden. Eine sorgfältige pathohistologische Untersuchung aus einer repräsentativen Biopsie ist notwendig, um die Verwechslung mit einem gut differenzierten Liposarkom zu vermeiden. Die verspätete Diagnosestellung, die Ausdehnung und die Lokalisation des Tumors lassen R0-Resektionen oft nicht zu und beeinflussen die Rezidivraten, die zwischen 3 und 62 % angegeben werden [4]. R0-Resektionen sind in Fällen, bei denen postoperativ bedenkliche Funktionsverluste zu erwarten sind, nicht anzustreben. Funktionsstörungen werden langsam eintreten und können weitgehend kompensiert werden, im Gegensatz zu einem sofortigen Funktionsverlust nach radikaler Chirurgie.
    Notes: Summary. Intramuscular lipomas are rare, benign unencapsulated tumors. They are also called infiltrating lipomas because of their infiltrative growth pattern which, deeply localized, seizes the skeleton muscle. The only obvious symptom is a palpable mass. Microscopically, monovacular fat tissue shows up between the muscle fiber. In extreme cases the preexisting muscle can be totally replaced by fat tissue. A precise pathohistological examination is needed to avoid the mistaken diagnosis of a well-differentiated liposarcoma. Late diagnosis, the extent and the localization of the tumor often do not allow for an R0 resection and influence the postoperative recurrence rates, which lie between 3 and 62 %. R0 resections are not desirable when postoperative severe loss of function can be expected. Malfunctions will slowly take place and can greatly be compensated, in contrast to a radical procedure with immediate loss of function.
    Type of Medium: Electronic Resource
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