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  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Mutation Research/Environmental Mutagenesis and Related Subjects 313 (1994), S. 193-202 
    ISSN: 0165-1161
    Keywords: Chromosome exchange ; Chromosome painting ; Control population
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Skeletal radiology 20 (1991), S. 534-538 
    ISSN: 1432-2161
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2307
    Keywords: Glomerulonephritis ; Familial ; Pathology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Proteinuria and microhaematuria were observed in three siblings and one first-degree cousin. Histological examination of three kidney biopsies and one autopsy specimen shows the same diffuse glomerular lesions in all patients, characterized by mainly subendothelial but frequently transmembranous and mesangial deposits of a unique fibrillar structure, visible by electron microscopy. Examination by immunfluorescence gave inconstant findings. No serological abnormalities could be established. To our knowledge, such a pecular form of familial glomerulopathy has not been described so far.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-2307
    Keywords: T-cell lymphoma ; γδ T-cell receptor ; Spleen ; Liver ; Haemophagocytosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a patient with a rare hepatosplenic γδ T-cell lymphoma (γδ TCL) presenting clinically with B-symptoms, hepatosplenomegaly and pancytopenia. During the initial stage of the disease the sparse malignant cells could not be detected histologically. Furthermore, their identification was obscured by massive macrophage proliferation with haemophagocytosis in the spleen. Diagnosis was established by detection of a clonal T-cell receptor (TcR) rearrangement and, retrospectively, by demonstration of rare cells expressing an aberrant T-cell phenotype. The findings in this patient emphasize that minimal neoplastic T-cell infiltrates can lead to severe clinical symptoms. Initial biopsy findings may be misinterpreted as benign. γδ TCL may elaborate lymphokines that suppress haematopoiesis, leading to pancytopenia and macrophage proliferation.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Virchows Archiv 424 (1994), S. 113-119 
    ISSN: 1432-2307
    Keywords: Lethal osteochondrodysplasia ; Dwarfism ; Acrodysplasia ; Magnetic resonance imaging ; Molecular biology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A hydropic stillborn female fetus of 22 weeks' gestation with shortlimbed skeletal dysplasia and brachyphalangy is described. The markedly shortened phalanges of both hands had a most unusual angel-like configuration radiologically. Histological examination and comparison with a normal hand of the same gestational age revealed this appearance to be due to disturbed enchondral ossification with premature calcification of epiphyseal cartilage and thickening and outfolding of diaphyseal bone as wing-shaped appositions. Magnetic resonance imaging of the fetus demonstrated marked hyperplasia of cartilage, most impressive in the pelvis. This new type of lethal bone dysplasia may be placed in the group of metatropic dysplasias and similar disorders.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-2307
    Keywords: Diastrophic Dwarfism ; Chondrodystrophy ; Scoliosis ; Compression of the Spinal Cord
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A detailed description of the pathologic and radiologic features of two premature sibs with diastrophic dwarfism is presented. They were born after 28 and 35 weeks gestation respectively and each survived for only one hour. The parents are first cousins. Histological investigation revealed a generalized disturbance of the hyaline and elastic cartilage, with vacuolar degeneration of the intercellular substance. Formation of cysts and clefts ensued mainly in the central portions of articular cartilage and led to massive destruction and deformation of the large joints, especially of the hips. Also, the zones of resting, proliferative and columnating cartilage were shortened and revealed a reduced number of chondrocytes in the vacuolated ground substance. Many of the deformed, shortened tubular bones presented marked bowing of the diaphyses. The first child had a marked scoliosis that had already developed in the uterus. In both cases the cervical spine was extremely kyphotic, due to hypoplasia of the ventral portion of the vertebral bodies C4–C6. The resulting severe narrowing of the spinal canal and compression of the cord may very likely be responsible for the death of our patients.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 58 (1980), S. 73-84 
    ISSN: 1432-1440
    Keywords: Kidney allograft transplantation ; Urinary tract infection ; Leucocyturia ; Antibody-coated bacteria ; Transplant pyelonephritis ; Nierentransplantation ; Harnwegsinfekt ; Leukozyturie ; antikörperbesetzte Bakterien ; Transplantatpyelonephritis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Anläßlich von 1802 Urinuntersuchungen bei 216 ambulanten Trägern von Nierenallotransplantaten wurden 274 signifikante Bakteriurien festgestellt. Bei 30 Patienten wurden rezidivierende oder chronisch persistierende Harnwegsinfekte beobachtet, wobei 399 Befunde von Urinuntersuchungen ausgewertet wurden (13,3 Untersuchungen pro Patient). Es handelte sich um 15 Patienten mit klinischer und/oder pathologisch-anatomisch verifizierter Transplantatpyelonephritis und um 11 Patienten mit Cystitis. Vier Patienten mit urologischen Komplikationen nach Transplantation wurden von der Studie ausgeschlossen. Besonderes Gewicht für die Diagnose einer Transplantatpyelonephritis erlangen kontinuierliche Leukozyturie und der Nachweis antikörperbedeckter Urinbakterien. Beide Befunde wurden bei allen Patienten mit Transplantatpyelonephritis mehrfach erhoben. Wichtige klinische Symptome sind Fieber und Dysurie. Im Gegensatz zur Kontrollgruppe mit Cystitis kann bei 13 von 15 Patienten mit Transplantatpyelonephritis eine Abnahme der Transplantatfunktion festgestellt werden; zwei Patienten wurden erneut dialysebedürftig. Eine weitere schwerwiegende Komplikation stellt die Urosepsis bei acht von 15 Patienten dar. Die Ergebnisse weisen mit 15 Erkrankungen bei 26 Patienten auf die Häufigkeit einer Transplantatpyelonephritis bei chronischer Harnwegsinfektion nach Nierentransplantation hin. Begünstigt wird ihr Auftreten durch eine Abflußbehinderung in den ableitenden Harnwegen (acht von 15 Patienten) und durch hochdosierte immunosuppressive Therapie: acht der 15 Patienten erhielten beim Auftreten der Pyelonephritis mehr als 10 mg Prednison/die. Durch Infektkontrolle konnte die Nierenfunktion bei drei Patienten gehalten werden, bei Abschluß der Untersuchung war die Funktionseinbuße des Transplantates bei vier Patienten teilweise reversibel.
    Notes: Summary Examinations of the urine in 216 kidney allograft recipients resulted in significant bacteriuria in 274 samples of 1,802 urines tested. Bacteruria was found in 30 patients with recurrent or chronic persistent infections of the urinary tract; this patient group was studied by examination of 399 urine samples (mean 13.3 samples per patient). Four patients suffered from urologic complications after kidney grafting and were excluded from the study; 15 patients were diagnosed clinically and/or histologically with transplant pyelonephritis, 11 patients with cystitis. Of main importance for the diagnosis of transplant pyelonephritis were findings of persistent leucocyturia and the presence of antibody-coated bacteria. Both of these findings were repeatedly seen in all patients with transplant pyelonephritis. Clinical symptoms included fever and dysuria. In contrast to patients suffering from cystitis, transplant function detoriated in 13 of 15 patients with transplant pyelonephritis; two patients had to be treated by hemodialysis. Septicemia occurred in eight of the 15 patients studied. The data illustrate the frequency of transplant pyelonephritis as observed in 15 of 26 patients accompaining chronic urinary tract infection after kidney allograft transplantation. As a predisposing factor, obstruction of the urinary tract was diagnosed in eight of the 15 transplant recipients with pyelonephritis. The prednisone dose was higher than 10 mg in eight of 15 patients at the time transplant infection was diagnosed. Successful antibiotic treatment resulted in stable transplant function in three patients; four patients exhibited even lower serum creatinine levels after therapy.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1985), S. 288-290 
    ISSN: 1432-1076
    Keywords: Nemaline myopathy ; Joint contractures ; Arthrogryposis ; Fetus ; Newborn
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratoy insufficiency.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1076
    Keywords: Recurrent respiratory papillomatosis ; Broncho-alveolar papillomatosis ; Squamous-cell carcinoma ; Human-papilloma virus type 6/11 ; Juvenile laryngeal papillomatosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a patient with recurrent respiratory papillomatosis (RRP) associated with human papilloma virus (HPV), who developed a fatal squamous cell carcinoma of the lung. At the age of 1 year he presented with hoarseness, dyspnoea and inspiratory stridor but the diagnosis of RRP was made only 1 year later. At the age of 4 years he was tracheostomized because of upper airway obstruction. In spite of multiple surgical excisions and topic treatment with 5-fluoruacil the papillomata extended to the lung parenchyma. At the age of 16 years he developed a squamous-cell carcinoma of the lung and died 4 months later. Transformation to pulmonary carcinoma is a rare complication in non-irradiated patients with lung papillomatosis. We found only 11 similar cases in the literature.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1989), S. 620-623 
    ISSN: 1432-1076
    Keywords: Wilms tumour ; IGF II ; IGF II-gene ; Embryonic growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In this study messenger ribonucleic acid (mRNA) and DNA of five Wilms tumours were investigated. As expected, the level of insulin-like growth factor (IGF) II-mRNA was elevated up to 50 times in tumour tissue as compared to normal adjacent kidney tissue. In addition, genomic DNA was isolated and digested with appropriate restriction enzymes. Southern blots were prepared and hybridized to IGF II-cDNA probes. Additional bands were present in one of the five Wilms tumours compared to normal tissue. The results indicate a rearrangement of the IGF II-gene on one of the two chromosomes. It is speculated, that this change is responsible for the elevated IGF II expression which may be a factor contributing to tumour growth.
    Type of Medium: Electronic Resource
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