Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Morbus Coats bei einem Jungen mit DiGeorge-Syndrom (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 1061-1065 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter DiGeorge-Syndrom ; Morbus Coats ; Leukokorie ; Retinoblastom ; Amaurose im Kindesalter ; Key words DiGeorge-Syndrom ; Coats’ disease ; Leukocoria ; Retinoblastoma ; Amaurosis in childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Coats’ disease is characterized by teleangiectatic and aneurysmal changes of the retinal vessels with secondary intra- and subretinal exudates. In most cases vision can be preserved by therapy at an early stage. In rare, advanced cases a total retinal detachment causes amaurosis. This case is the first description of Coats’ disease associated with DiGeorge-Syndrome. We report the case of an eight year old boy, who suffered from headache after ear surgery (tympanoplastic type I). Retinoblastoma could be exluded and Coats’ disease was diagnosed by ophthalmoscopy, computertomography and magnetic resonance imaging. Discussion: Until today the cause of Coats’ disease is unknown. The coincidence with DiGeorge-Syndrome seems to be accidental.
    Notes: Zusammenfassung Der Morbus Coats ist charakterisiert durch teleangiektatische und aneurysmatische Gefäßveränderungen der Retina und sekundäre intra- und subretinale Exsudate. Meist ist durch frühzeitige Therapie der Visus zu erhalten. In seltenen, fulminant verlaufenden Fällen können eine vollständige Amotio retinae und Erblindung auftreten. Dieser Fall ist die erste Beschreibung eines Morbus Coats bei einem DiGeorge-Syndrom. Wir berichten über einen 8jährigen Jungen mit einem DiGeorge-Syndrom, bei dem nach einer Tympanoplastik Typ I starke Kopfschmerzen auftraten. Durch Ophthalmoskopie, Computertomographie und Kernspintomographie konnten ein Retinoblastom ausgeschlossen und ein Morbus Coats diagnostiziert werden. Diskussion: Die Ursache des Morbus Coats ist bis heute nicht geklärt. Das Zusammentreffen mit dem DiGeorge-Syndrom ist wahrscheinlich zufällig.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050204
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Acute leukemia with chromosome translocation (4; 11): 7 new patients and analysis of 71 cases (1987)
    Springer
    Annals of hematology 54 (1987), S. 325-335 
    Details
    ISSN: 1432-0584
    Keywords: Acute leukemia ; (4; 11) chromosome translocation ; Early B-precursor cell origin ; Mixed lineage leukemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical and laboratory features of seven patients with acute leukemia associated with the (4; 11) chromosome translocation are presented. Leukemic blasts of these patients showed lymphoid morphology in 6 (although 1 was treated for monoblastic leukemia 3 years earlier) and monocytoid morphology in 1, were positive for TdT and HD 37 (CD 19) in 6 patients, whereas weak expression of CALLA was seen in only 1 patient and T-lineage-associated antigens in none. Leukemic blasts from four patients showed the simultaneous expression of B-lymphoid and myeloid antigens, suggesting leukemogenesis in a very early multipotent progenitor cell. In 2 patients an isochromosome of the long arm of No. 7 chromosome was found in the leukemic karyotypes in addition to t (4; 11) (q21; q23); in one instance present at diagnosis, in the other one occurring at relapse. In one other patient leukemia karyotype also demonstrated trisomy 8. Leukemic cells of three patients were investigated by molecular genetics and demonstrated immunoglobulin gene rearrangements for the Ig heavy chain sequences but not for the light chain constant regions and T cell receptor sequences. All patients were treated by intensive chemotherapy. Four of the 7 patients are in continuous complete remission. The longest event-free survival time (over 2 1/2 years) was seen in one patient who had also DOWN-syndrome. Including these 7 patients a clinical analysis of 71 patients with t (4; 11) acute leukemia was made, emphasizing the following characteristics at diagnosis: female sex (62%), age under 2 years (49%), leukocyte count over 100×109/1 (61%), splenomegaly (80%), CNS-disease (11%). Survival of over 2 years was reported in less than 15% of the patients. It remains to be seen if risk-adapted treatment can alter the course of this early B-precursor acute leukemia with hitherto very bad prognosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00626012
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...