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  • 1
    ISSN: 1432-1076
    Keywords: Albright hereditary osteodystrophy ; Pseudohypoparathyroidism type Ia ; Pseudopseudohypoparathyroidism ; G protein expression
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We examined a German family with five members affected by Albright hereditary osteodystrophy (AHO). The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, short stature, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia. The PHP-Ia patient exhibited hypocalcaemia, hyperphosphataemia, elevated immunoreactive parathyroid hormone (PTH), and a blunted response of cyclic adenosine monophosphate (cAMP) in plasma and urine to synthetic 1-38 hPTH. In addition, latent primary hypothyroidism was found. In contrast, all tested healthy family members as well as the patients with pseudo-PHP exhibited normal calcium metabolism including cAMP response to exogenous PTH. In Northern blot experiments all patients with AHO, regardless whether affected by PHP-Ia or pseudo-PHP, revealed significantly reduced mRNA levels coding for the α subunit of the G protein that stimulates adenylyl cyclase (Gsα), when compared with healthy family members. In contrast, there was no significant difference between healthy and affected subjects with regard to the levels of the mRNA coding for the α subunit of Giα-2, the main inhibitory G protein of adenylyl cyclase. The results indicate that reduced expression of Gsα is a useful genetic marker in some families with AHO, regardless whether patients are affected by PHP-Ia or by pseudo-PHP.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Epstein-Barr virus ; Lymphoproliferative syndrome ; Inherited immunodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 30-month-old previously healthy Turkish boy who presented with fever, hepatosplenomegaly and generalized lymphadenopathy. He died 4 months after admission in spite of treatment with steroids, acycloguanosine and cyclophosphamide. Epstein-Barr virus (EBV) DNA was detected in the patient's bone marrow and in a lymph node biopsy. Cells from the lymph node biopsy showed monoclonal rearrangements of immunoglobulin heavy chain genes but no rearrangements of T-cell receptor β-chain genes or immunoglobulin kappa chain genes. Serological data indicated chronic active EBV infection. There was a slight increase of CD8 positive cells in peripheral blood and a normal response to T-cell mitogens. However, T-cell lines established with interleukin 2 from lymph node biopsy completely failed to kill autologous EBV-transformed B-cells and K 562 target cells. Moreover, in regression tests the patient's peripheral blood mononuclear cells completely failed to limit outgrowth of autologous EBV infected B-cells. We conclude that the patient's selective immunodeficiency had led to the rapid development of EBV-associated monoclonal lymphoproliferation.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 718-725 
    ISSN: 1432-1076
    Keywords: Epstein-Barr virus ; Lymphoproliferative syndromes ; Immunity ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Epstein-Barr virus (EBV), an ubiquitous human B lymphotropic virus, is the cause of infectious mononucleosis. Moreover, EBV infection can be followed by lymphoproliferative diseases in patients with inherited and acquired immunodeficiencies. Primary EBV infection may be a threat to all children after marrow or organ transplantation or those receiving chronic immunosuppressive treatment for various other reasons. The virus has been also implicated in the pathogenesis of different malignant tumours such as Burkitt lymphoma, nasopharyngeal carcinoma, Hodgkin disease and some T-cell lymphomas. This review focuses on various aspects of virus-host interactions, immune mechanisms of the host, and the still experimental therapeutic approaches in EBV-associated diseases.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 151 (1992), S. 794-798 
    ISSN: 1432-1076
    Keywords: Epstein-Barr virus ; Lymphoproliferative syndromes ; Immunity ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Epstein-Barr virus (EBV), an ubiquitous human B lymphotropic virus, is the cause of infectious mononucleosis. Moreover, EBV infection can be followed by lymphoproliferative diseases in patients with inherited and acquired immunodeficiencies. Primary EBV infection may be a threat to all children after marrow or organ transplantation or those receiving chronic immunosuppressive treatment for various other reasons. The virus has been also implicated in the pathogenesis of different malignant tumours such as Burkitt lymphoma, nasopharyngeal carcinoma, Hodgkin disease and also some T-cell lymphomas. This review focuses on various aspects of virus-host interactions, immune mechanisms of the host, and the still experimental therapeutic approaches in EBV-associated diseases.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words     X-linked lymphoproliferative disease ; Inherited immunodeficiency ; Epstein-Barr virus infection ; Carrier status ; Haplotype analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease. Haplotype analysis using various DNA markers from Xq25-q27 allowed the prediction of the carrier status in females and identification of the XLP status in asymptomatic males.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: X-linked lymphoproliferative disease ; Inherited immunodeficiency ; Epstein-Barr virus infection ; Carrier status ; Haplotype analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three families with X-linked lymphoproliferative disease were studied. Affected males clinically presented with severe or fatal infectious mononucleosis, acquired hypogammaglobulinaemia, hypergammaglobulinaemia M, and malignant lymphoma including Hodgkin disease. Haplotype analysis using various DNA markers from Xq25-q27 allowed the prediction of the carrier status in females and identification of the XLP status in asymptomatic males.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 209 (1973), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 234 (1971), S. 454-456 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] A model is proposed for clonal proliferation and antibody production of B lymphocytes. It suggests that changes in the B cell surface due to specific antigen binding are detected by T lymphocytes, which then stimulate the B cell to ...
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1433-0474
    Keywords: SchlüsselwörterKingella kingae ; Osteomyelitis ; Septische Arthritis ; Bakterielle 16S-ribosomale DNA ; PCR ; Key wordsKingella kingae ; Osteomyelitis ; Septic arthritis ; 16S ribosomale DNA ; PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Kingella kingae has occasionally been isolated from joint fluid of children with septic arthritis in europe. K. kingae, a gram- negative bacillus of the Neisseriaceae family, shows a slow fastidious growth in culture. The detection rate can be improved by inoculation of joint fluid aspirates into aerobic blood culture bottles and through a longer culture time. K. kingae colonizes the mucous membranes of the upper respiratory tract. However, osteomyelitis, septic arthritis and meningitis have also been described in childhood. Case report: We report on a 15-months-old girl with a septic arthritis of the left knee and a concomitant airway infection. Bacterial cultures of joint fluid were negative during the first week. However 16S ribosomal DNA analysis by PCR revealed K. kingae as the causative agent. Conclusion: Since K. kingae is difficult to detect by conventional microbial methods, detection can be optimized by bacterial 16S ribosomal DNA-analysis using PCR technique. This technique might be helpful to reduce the high percentage of undiagnosed pathogens in septic arthritis and osteomyelitis.
    Notes: Zusammenfassung Neben Staphylococcus aureus und Hämophilus influenzae ist in seltenen Fällen Kingella kingae als Erreger einer septischen Arthritis isoliert worden. K. kingae ist ein gramnegatives, kokkoides Stäbchen, welches langsam wächst und hohe Ansprüche an die Kulturbedingungen stellt. Der bakterielle Nachweis gelingt nur schwer, wird aber durch die Anzucht in aeroben Flüssigmediumblutkultursystemen und eine längere Bebrütungszeit verbessert. K. kingae besiedelt in der Regel den Respirationstrakt. Invasive Erkrankungen, wie Osteomyelitis, septische Arthritis und Meningitis, wurden im Kindesalter beschrieben. Fallbericht: Wir berichten über ein 15 Monate altes Mädchen, welches im Rahmen eines Luftweginfekts eine septische Arthritis des linken Knies entwickelte. Ein bakterieller Nachweis im Gelenkpunktat mittels Kultur gelang erst nach 8 Tagen. Jedoch konnte K. kingae bereits sehr früh durch PCR-Analyse der bakteriellen 16S-ribosomalen DNA im Eiter nachgewiesen werden. Es empfiehlt sich, bei Säuglingen und Kleinkindern mit septischer Arthritis und Osteomyelitis initial eine Kombinationstherapie von Antibiotika einzusetzen, welche gegen Staphylokokken und gramnegative Erreger wirksam sind. Durch den Einsatz neuer molekulargenetischer Methoden können der Keimnachweis verbessert und frühzeitig auf eine gezielte Therapie umgestellt werden. Schlußfolgerung: Die PCR-Analyse der bakteriellen 16S-ribosomalen DNA erlaubt es, schwer anzüchtbare Erreger, wie z.B. K. kingae, früher als mit herkömmlichen Kulturverfahren nachzuweisen. Möglicherweise kann dadurch der hohe Anteil an septischen Arthritiden und Osteomyelitiden ohne Keimnachweis deutlich reduziert werden.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Medical microbiology and immunology 160 (1974), S. 191-199 
    ISSN: 1432-1831
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In vivo andin vitro tests were performed to detect any immunological abnormalities in SSPE patients (n=15). An unexpected high incidence of skin test anergy (about 40%) against 5 common skin test antigens was observed (candidin, streptokinase-streptodornase, mumps, PPD, trichophytin). All of these patients could, however, be successfully sensitized to 2,4-dinitrochlorbenzene (DNCB). Other screening tests suggest that SSPE patients have normal subpopulations of lymphocytes in peripheral blood. Specific cellular immunity was demonstrated by lymphocyte-mediated cytotoxicity against [51Cr]-labelled target cells persistently infected with measle virus. Lymphocytes from all SSPE patients gave a vigorous response. These results do not confirm Burnet's theory (Burnet, 1968) that SSPE patients have a specific defect of cell-mediated immunity against measles virus.
    Type of Medium: Electronic Resource
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