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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Pediatric allergy and immunology 3 (1992), S. 0 
    ISSN: 1399-3038
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Chronic granulomatous disease (CGD) is a syndrome, the unifying characteristics of which arc a predisposition to recurrent bacterial and fungal infections, an impaired ability of phagocytes to kill microorganisms and the failure of these cells to produce microbicidal oxygen metabolites. Four genetically different molecular defects have been found to underlie the x-linked and autosomal recessive forms of CGD. Since the relevant normal genes are cloned, molecular analysis of the genetic lesions in CGD is rapidly progressing. Diagnosis of carriers is possible in most instances and prenatal diagnosis by trophoblast biopsy or at least cordoccntcsis is now feasible. Until recently, therapy has been limited to aggressive antimicrobial prophylaxis and in very selected cases bone marrow transplantation. A new development is the introduction of recombinant human interferon-λ as infection prophylaxis. Finally, our current knowledge of the genetic defects in CGD may allow the development of somatic gene therapy directed at monocytes, or more permanently at bone marrow or peripheral blood stem cells, and promises definitive cure of this still life-threatening disease.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé L'analyse rétrospective de 22 cas d'insulinomes pancréatiques colligés par les auteurs dans leur service leur a permis d'apprécier la valeur diagnostique des différentes méthodes d'exploration pré-opératoires et per opératoires. Dans 18 malades, les insulinomes uniques ont été localisés dans 55.5% des cas par l'artériographie sélective, dans 64% des cas par le cathétérisme transhépatique avec prélèvement étagé de sang veineux, et seulement dans 11% des cas par l'ultfasonographie et la tomodensitométrie. La combinaison de l'artériographie sélective et du cathétérisme transhepatique permit de définir le siège de la tumeur dans 83% des cas. La palpation chirurgicale, l'ultrasonographie au cours de l'intervention, le dosage peropératoire du glucose sanguin permirent dans tous les cas de découvrir une tumeur unique. Lorsque les insulinomes sont multiples les diverses méthodes pré-opératoires d'exploration ne sont pas fiables. Dans 4 cas d'insulinomes multiples les différentes explorations preoperatoires permirent de découvrir seulement 8 (28%) tumeurs sur un total de 28 existantes. On ne peut se fier à la palpation pour les decouvrir. Seuls l'échographie peropératoire et le dosage peropératoire du glucose sanguin décèlèrenttoutes les tumeurs multiples (le diamétre de la plus petite tumeur était de 4 mm). Ces 2 méthodes d'exploration opératoire constituent actuellement les procédés de choix pour mettre en évidence les petits insulinomes pancréatiques.
    Abstract: Resumen Se ha hecho la determinación del valor diagnóstico de diversos procedimientos de localización pre- e intraoperatoria mediante el anâlisis retrospectivo de 22 casos de insulinoma pancreáticos operados en nuestro centra médico. En los 18 pacientes, los insulinomas solitarios pudieron ser localizados por arteriografía selectiva (AS) en 55.5% de los casos, por cateterismo transhepático para muestreo venoso esplénico (MVET) en 64% de los casos, pero por ultrasonografía (US) y tomografía computadorizada (TC) apenas en 11% de los casos. La combinación de AS y MVET logró la localización preoperatoria del tumor en 83% de los casos. La palpación intraoperatoria, la ultrasonografía, y la monitoría de la glicemia logró la localización del tumor en la totalidad de los otros casos que poseían un tumor único. Cuando los insulinomas eran multiples, los diversos exámenes preoperatorios demostraron no ser confiables. En los 4 casos con insulinomas múltiples, varios exámenes (AS, US, TC, MVET) lograron localizar solo 8 (28%) tumores entre 28. La palpación intraoperatoria fue igualmente inadecuada. Sólo la US intraoperatoria y la monitoría continuada de la glicemia lograron la localización de latotalidad de los tumores multiples, siendo 4 mm el diámetro del más pequeño de los tumores. Estos 2 tipos de examen intraoperatorio representan actualmente los procedimientos de elección para detectar pequenos insulinomas pancreáticos.
    Notes: Abstract From a retrospective analysis of 22 cases of pancreatic insulinoma operated in our center, we have determined the predictive value of various pre- and intraoperative localization procedures. In 18 patients, solitary insulinomas were localized by selective arteriography (SA) in 55.5% of cases, by transhepatic catheterization with pancreatic venous sampling (THVS) in 64% of cases, but by ultrasonography (US) and computed tomography (CT) in only 11% of cases. The combination of SA and THVS allowed the preoperative localization of the tumor in 83% of cases. Intraoperative palpation, ultrasonography, and blood glucose monitoring localized a single tumor in all cases. When the insulinomas were multiple, the various preoperative investigations were not reliable. In the 4 cases of multiple insulinoma, various investigations (SA, US, CT, THVS) localized only 8 (28%) tumors of 28. Intraoperative palpation was also unreliable. Only intraoperative ultrasonography and continuous blood glucose monitoring localizeall multiple tumors (the diameter of the smallest tumor was 4 mm). These 2 intraoperative investigations are now the procedures of choice for the detection of small pancreatic insulinomas.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words: Combined immunodeficiency – T-cell defect – B-cell defect – Cerebellar hypoplasia – Pancytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A male infant with primary combined immunodeficiency, microcephaly with marked cerebellar hypoplasia, and growth failure of prenatal onset is presented. He developed progressive pancytopenia in the 3rd year of life and died at 42 months from disseminated aspergillosis. Laboratory studies and post mortem examination failed to reveal any known aetiology for his disorder. Hreidarsson et al. [3] previously described a syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure in three boys, with similar clinical and laboratory findings. Although extensive immunological investigations were not performed in those previous patients, recurrent infections in two of them are suggestive of immunodeficiency. In the light of the immunological findings in our patient, we propose that the condition of the four patients belongs to the same syndrome, which has to be considered as a primary combined immunodeficiency syndrome. This syndrome can be distinguished from the other known immunodeficiency syndromes by its associated characteristic features, namely microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and progressive pancytopenia.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Combined immunodeficiency ; T-cell defect B-cell defect ; Cerebellar hypoplasia Pancytopenia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A male infant with primary combined immunodeficiency, microcephaly with marked cerebellar hypoplasia, and growth failure of prenatal onset is presented. He developed progressive pancytopenia in the 3rd year of life and died at 42 months from disseminated aspergillosis. Laboratory studies and post mortem examination failed to reveal any known aetiology for his disorder. Hreidarsson et al. [3] previously described a syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure in three boys, with similar clinical and laboratory findings. Although extensive immunological investigations were not performed in those previous patients, recurrent infections in two of them are suggestive of immunodeficiency. In the light of the immunological findings in our patient, we propose that the condition of the four patients belongs to the same syndrome, which has to be considered as a primary combined immunodeficiency syndrome. This syndrome can be distinguished from the other known immunodeficiency syndromes by its associated characteristic features, namely microcephaly with cerebellar hypoplasia, growth failure of prenatal onset and progressive pancytopenia.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Keywords: Bone marrow transplantation ; Immunodeficiency ; Chondrodysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract We diagnosed cartilagehair hypoplasia (CHH) in a female child with prenatal-onset short stature, metaphyseal chondrodysplasia, and severe combined immunodeficiency leading to recurrent, severe respiratory tract infections. The patient required several hospital admissions during her 1st year of life and failed to thrive in spite of antimicrobial therapy and hypercaloric nutrition. Bone marrow transplantation (BMT) from an HLA-identical sister was performed at age 16 months after conditioning with busulphan and cyclophosphamide, using 9×108 nucleated bone marrow cells/kg body weight. Graft-versus-host disase prophylaxis consisted of cyclosporine and methotrexate. The post-transplantation period was uneventful. She developed full and sustained chimerism as demonstrated by DNA analysis of granulocytes and mononucleated cells on days 44, 69 and 455 post BMT. Cellular immunity was completely reconstituted at 4 months, humoral immunity at 15 months post BMT. The patient is alive and well 24 months post BMT without medication, but the radiological osseous changes persist, and longitudinal growth remains markedly below the 10th percentile for CHH standards; her height at age 3 years 4 months is 66 cm. Conslusions In this patient with unusually severe CHH, bone-marrow transplantation has fully corected the immune deficiency but has had no influence on the course of the chondrodysplasia.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Key words Bone marrow ; transplantation ; Immunodeficiency ; Chondrodysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We diagnosed cartilage-hair hypoplasia (CHH) in a female child with prenatal-onset short stature, metaphyseal chondrodysplasia, and severe combined immunodeficiency leading to recurrent, severe respiratory tract infections. The patient required several hospital admissions during her 1st year of life and failed to thrive in spite of antimicrobial therapy and hypercaloric nutrition. Bone marrow transplantation (BMT) from an HLA-identical sister was performed at age 16 months after conditioning with busulphan and cyclophosphamide, using 9 × 108 nucleated bone marrow cells/kg body weight. Graft-versus-host disease prophylaxis consisted of cyclosporine and methotrexate. The post-transplantation period was uneventful. She developed full and sustained chimerism as demonstrated by DNA analysis of granulocytes and mononucleated cells on days 44, 69 and 455 post BMT. Cellular immunity was completely reconstituted at 4 months, humoral immunity at 15 months post BMT. The patient is alive and well 24 months post BMT without medication, but the radiological osseous changes persist, and longitudinal growth remains markedly below the 10th percentile for CHH standards; her height at age 3 years 4 months is 66 cm. Conclusions In this patient with unusually severe CHH, bone-marrow transplantation has fully corrected the immune deficiency but has had no influence on the course of the chondrodysplasia.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 154 (1995), S. 729-731 
    ISSN: 1432-1076
    Keywords: Addison disease ; Bone marrow transplantation ; Wiskott-Aldrich syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 10-year-old boy with familial Wiskott-Aldrich syndrome (WAS) who underwent successful bone marrow transplantation (BMT) at the age of 9 months. With the exception of auto-immune haemolytic anaemia due to warm antibodies lasting 15 months there had not been any complication after BMT. Ten years later the patient presented with diarrhoea, hyperpigmentation of skin and oral mucosa, fatigue and polyuria. Diagnosis of Addison disease was confirmed by typical electrolyte imbalance and absent cortisol response to adrenocorticotrophic hormone. Adrenal antibodies were positive. On therapy with oral gluco- and mineralocorticoids, the symptoms disappeared and electrolytes normalized. To our knowledge auto-immuno endocrinopathy after BMT for WAS has not yet been reported.
    Type of Medium: Electronic Resource
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