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  • 11
    Digitale Medien
    Digitale Medien
    Inherited defects of the protein C anticoagulant system in childhood thrombo-embolism (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 921-927 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Resistance to activated protein C (APCR) ; Protein C ; Protein S ; Childhood thrombo-embolism
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Childhood thrombo-embolism is mostly the result of inherited thrombophilia or vascular insults combined with risk factors such as peripartal asphyxia, fetopathia diabetica, exsiccosis, septicaemia, central lines, congenital heart disease, cancer, trauma, surgery or elevated antiphospholipid antibodies. Inherited thrombophilia includes mainly defects of the protein C pathway, resistance to activated protein C, protein C or protein S deficiency. Resistance to activated protein C, in the majority of cases caused by the point mutation Arg 506 Gln of the factor V gene, has emerged as the most important hereditary cause of thrombo-embolism in adults and children. However, since an acquired risk of thrombo-embolic complications frequently masks the inherited deficiency in affected children, children with thrombo-embolism should have adequate laboratory evaluation for inherited coagulation disorders, especially the protein C pathway. Until more data on childhood thrombo-embolism are available, treatment recommendations will continue to be extrapolated from guidelines for adults.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02282879
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  • 12
    Digitale Medien
    Digitale Medien
    Arginine506 to glutamin mutation in the factor V gene in infancy and childhood: evidence of fibrinolytic impairment (1997)
    Springer
    European journal of pediatrics 156 (1997), S. 195-198 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Arg506 to Gln ; t-PA ; u-PA ; PAI 1 ; D-Dimer
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Resistance to activated protein C (APCR), in the majority of cases due to the arginine506 (Arg506) to glutamine (Gln) mutation in the factor V gene, has emerged as the most important hereditary cause of venous thrombo-embolism. To determine to what extent this relatively common gene mutation influences the fibrinolytic system we investigated a population of APC resistant children (n = 65) in comparison with a control group␣of sex- and age-matched healthy children (n = 100). Compared to the controls, plasma levels of tissue-type plasminogen activator (t-PA), urokinase-type plasminogen activator (u-PA) and plasminogen activator inhibitor (PAI) 1 antigen, D-Dimer and enhanced thrombin generation were significantly (P 〈 0.0001) increased in children with the common factor V mutation. No difference was found between symptomatic and non-symptomatic children. Whether high concentrations of t-PA, u-PA and PA1 antigen can predict future vascular occlusion in children with APCR requires a more extensive multicentre study. Conclusion Our data indicate that hypercoagulability in children with the Arg506 to Gln mutation in the factor V gene is mainly attributed to the genetic aetiology of the disease.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004310050581
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  • 13
    Digitale Medien
    Digitale Medien
    A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP – or von Willebrand type 2B alone? (1999)
    Springer
    European journal of pediatrics 158 (1999), S. S171 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words ITP ; von Willebrand disease ; DDAVP
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/PL00014348
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  • 14
    Digitale Medien
    Digitale Medien
    Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 783-797 
    Details
    ISSN: 1432-1076
    Schlagwort(e): Key words Fanconi-Bickel syndrome ; Facilitative glucose transport ; Glut2 ; Glycogen storage disease
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in Glut2, the gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine and kidney. The disease was first described in a 3-year-old Swiss boy in 1949. Here we report a follow up of this original patient over more than 50 years and show that the typical clinical and laboratory findings of FBS (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe short stature) persist into adulthood. We further summarize the historical observations that eventually led to the identification of the basic defect of FBS and give an overview of the 82 cases from 70 families in the published literature and from personal communications. Conclusion Although with the first description of a congenital defect of facilitative glucose transport the main steps in the pathophysiology of Fanconi-Bickel syndrome have been elucidated, numerous pathophysiological mechanisms are far from clear and thus encourage the ongoing study of patients with this disorder.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004310050937
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  • 15
    Digitale Medien
    Digitale Medien
    The impact of EBV, proliferation rate, and Bcl-2 expression in Hodgkin's disease in childhood (1994)
    Springer
    Annals of hematology 68 (1994), S. 61-66 
    Details
    ISSN: 1432-0584
    Schlagwort(e): EBV ; Hodgkin's disease ; Proliferation Prognosis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The role of Epstein-Barr virus (EBV) in the pathogenesis of Hodgkin's disease (HD) has not yet been clarified. Using RNA in situ hybridization (ISH) and immunohistochemistry (IHC), the occurrence of small Epstein-Barr virus encoded RNA (EBER) and latent membrane protein-1 (LMP-1) was studied in 22 tissue samples from 21 patients between 4 and 17 years of age with Hodgkin's disease. EBER was detected in eight of 21 patients (38%) in Hodgkin and Reed-Sternberg cells and reactive lymphocytes irrespective of initial clinical stage and histological subtype, whereas LMP-1, positive in ten of 21 patients (48%), was restricted to neoplastic cells. All cases positive for EBER expressed LMP-1 as well. Additionally, oncoprotein Bcl-2 was identified in nine of 21 patients (43%), indicating, besides immortalization of HD cells by EBV, a further growth advantage due to apoptosis prevention by overexpression of this protein. Proliferation-associated antigens Ki-S1 and Ki-S5 were highly expressed in Hodgkin and Reed-Sternberg cells. CD 30 antigen was found in most cases, using two different antibodies (90% and 80%). The presence of this protein, which belongs to the family of nerve growth factor receptor (NGFR), is related to high expression of Ki-67 protein, detected by Ki-S5. CD 20 antigen was detectable in only three of 21 patients (14%). If we compare results of ISH and IHC with clinical data, the occurrence of EBV genome in children with HD seems to have no adverse effect on the final outcome of these patients.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01715132
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  • 16
    Digitale Medien
    Digitale Medien
    Geographic distribution and origin of CFTR mutations in Germany (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 727-731 
    Details
    ISSN: 1432-1203
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie , Medizin
    Notizen: Abstract The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromosomes from 22 European countries and overseas. The major mutation ΔF508 was identified on 71.5% of all CF chromosomes, followed by R553X (1.8%), N1303K (1.3%), G542X (1.1%), G551D (0.8%) and R347P (0.8%). According to the grandparents’ birthplace, 74% of CF chromosomes had their origin in Germany; the ΔF508 percentage was 77%, 75%, 70% and 62% in northern, southern, western and eastern Germany, respectively. Ten or more mutant alleles in the investigated CF gene pool originated from Austria, the Czech Republic, Poland, Russia, Turkey and the Ukraine. This widespread geographic origin of CFTR mutations in today’s Germany reflects the many demographic changes and migrations in Central Europe during the 20th century.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/s004390050128
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  • 17
    Digitale Medien
    Digitale Medien
    First case of disseminatedMycobacterium avium infection following chemotherapy for childhood acute myeloid leukemia (1995)
    Springer
    Infection 23 (1995), S. 301-302 
    Details
    ISSN: 1439-0973
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Zusammenfassung Der Fall eines 14jährigen Mädchens indischen Ursprungs wird dargestellt, bei dem im Alter von 12 Jahren eine akute myeloische Leukämie (AML) diagnostiziert wurde. Die Chemotherapie mußte nach sechs Wochen wegen anhaltend hohen Fiebers und des Auftretens von Leber- und Milzabszessen abgebrochen werden. Serologische wie histologische Befunde sprachen für eine disseminierte Candida-Infektion; es fanden sich aber auch Granulome mit zentraler Verkäsung in der Leberbiopsie. Säurefeste Stäbchen konnten nicht nachgewiesen werden. Der Zustand der Patientin besserte sich unter fungistatischer Therapie, jedoch persistierten Fieberschübe und hohe Serumentzündungsparameter. Erst ein Jahr nach Manifestation der AML konnte eine Infektion mitMycobacterium avium aus Knochenmarksaspiraten diagnostiziert werden. Bei der Untersuchung der zellulären Immunität fand sich ein ausgeprägter Mangel an T-Lymphozyten und speziell an CD4-positiven Zellen. Eine Infektion mit HIV und anderen lymphotropen Viren konnte ausgeschlossen werden. Nach fünf Monaten spezifischer Therapie erholte sich die Patientin, sie ist in anhaltender Remission der AML. Opportunistische Infektionen wurden bisher bei onkologischen Patienten selten diagnostiziert; andererseits bietet die Literatur wenig Information über T-Zellfunktion bei AML. Bei Fieber unklarer Ursache müssen auch bislang selten diagnostizierte Infektionen in dieser Patientengruppe in Erwägung gezogen werden.
    Notizen: Summary A 14-year-old girl of Indian origin with acute myeloid leukemia (AML) is presented, who was diagnosed at the age of twelve. Antileukemic chemotherapy had to be discontinued after 6 weeks because of persistent high fever and the emergence of liver and spleen abscesses. Serologic and biopsy findings were consistent with disseminated candidiasis; however, a liver biopsy also revealed granulomatous lesions with caseous degeneration. No acid-fast bacilli could be detected. Upon antifungal treatment the patient's condition improved, but fever spells and high inflammatory blood parameters persisted. One year after the diagnosis of AML was established,Mycobacterium avium was cultured from bone marrow aspirates. The patient's cellular immunity was severely compromised at that time as reflected by the marked depression of T-lymphocyte counts, in particular of CD4-positive cells. HIV and other lymphotropic virus infections were subsequently excluded. After 5 months of specific treatment the patient recovered from mycobacterial infection and remains in first remission of AML. Opportunistic infections have rarely been diagnosed in oncologic patients to date, while data on T-cell function in AML is sparse. Fever of unknown origin should prompt the search for infectious agents unusual to date in this patient group.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01716291
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  • 18
    Digitale Medien
    Digitale Medien
    Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 191-194 
    Details
    ISSN: 1573-2665
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1023/A:1005379013406
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  • 19
    Digitale Medien
    Digitale Medien
    Discrepant results of different tests for antibodies to hepatitis C in children with malignant diseases and in patients on renal replacement therapy (1991)
    Springer
    European journal of clinical microbiology & infectious diseases 10 (1991), S. 978-981 
    Details
    ISSN: 1435-4373
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The serostatus of hepatitis C in pediatric oncological patients and in individuals on renal replacement therapy was tested for circulating antibodies to the c100-3 recombinant antigen of hepatitis C. Upon prescreening, 12 of 82 patients in the pediatric oncological group, 6 of 108 renal transplant recipients, and 17 of 150 patients on chronic intermittent hemodialysis were repeatedly positive. Further testing of these 35 sera by supplemental test assays revealed conflicting data, mostly in the pediatric oncological group and in renal transplant recipients. Only in 10 sera were identical results obtained, suggesting that positive test results in some groups at risk have only a low predictive value.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02005459
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  • 20
    Digitale Medien
    Digitale Medien
    A Luminescence Western blot with enhanced sensitivity for antibodies to human immunodeficiency virus (1987)
    Springer
    European journal of clinical microbiology & infectious diseases 6 (1987), S. 49-51 
    Details
    ISSN: 1435-4373
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A luminescence assay was adapted for detection of peroxidase-labelled secondary antibodies, which react specifically with antibodies to human immunodeficiency virus on Western blots. This method is about one hundred times more sensitive than either commercial enzyme-linked immunosorbent assay or the chromogenic peroxidase assay on Western blots and detects seroconversion earlier than any other technique currently available.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02097190
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