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  • 1
    Electronic Resource
    Electronic Resource
    The persistent Müllerian duct syndrome: A rare cause of cryptorchidism (1993)
    Springer
    European journal of pediatrics 152 (1993), S. S76 
    Details
    ISSN: 1432-1076
    Keywords: Anti-Müllerian hormone (AMH) ; Müllerian-inhibiting substance (MIS) ; Intersex ; Male pseudohermaphroditism ; Uterus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The persistent Müllerian duct syndrome is characterized by the retention of Müllerian derivatives in patients otherwise normally virilized. Clinically, the persistence of uterus and tubes leads either to cryptorchidism or inguinal hernia, depending on whether or not the Müllerian derivatives can be mobilized during testicular descent. The condition is usually discovered at surgery, however preoperative sonography could allow the diagnosis to be made preoperatively. The molecular basis of the persistent Müllerian duct syndrome is heterogeneous, and is reflected by wide variations in the serum concentration of anti-Müllerian hormone. Some cases are apparently due to end-organ resistance, and are associated with normal serum levels of the hormone. Others, characterized by absent or low hormone concentrations, can be explained by mutations of the gene coding for anti-Müllerian hormone, which are distributed along the whole length of the coding region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02125444
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  • 2
    Electronic Resource
    Electronic Resource
    Evaluation of a new low-dose digital X-ray device: first dosimetric and clinical results in children (1998)
    Springer
    Pediatric radiology 28 (1998), S. 557-561 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. A new low-dose digital X-ray device, based on Charpak's Nobel prize-winning multiwire chamber, enables the production of images at very low doses. Objectives. To present the first dosimetric and clinical results. Materials and methods. The analysis was performed on 93 children with scoliosis and 47 undergoing pelvic radiography. The comparative study between conventional X-ray and the new technique focused on three points: (1) the dose delivered by each system (2) the diagnostic information provided by each system and (3) comparison of image quality criteria with European guidelines. Results. The mean ratio of conventional dose to that of the low-dose technique was 13.1 for the spinal examination and 18.8 for the pelvis. There was no significant difference in diagnostic information available from each modality, but there was a slight difference in quality criteria in favour of the conventional technique. Conclusion. This new device allows spectacular dose reduction, consistent with adequate clinical information. Improvements of the prototype will lead to extension of potential indications and industrial development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050413
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Ischio-vertebral dysplasia: a distinct entity (1999)
    Springer
    Pediatric radiology 29 (1999), S. 131-134 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. Kyphoscoliosis is a complication of some bone dysplasias, including cleidocranial dysplasia. Objectives. We report a distinct disorder with defective ossification of the ischial rami, severe kyphoscoliosis and normal clavicles. Early recognition of this syndrome allows prevention of complications. Materials and methods. All patient cases (aged 1 day to 33 years) were selected according to the above criteria, with special attention to radiological findings, family history and follow-up (5–30 years). Results. In all eight patients, we observed the following: (a) Severe thoracic scoliosis of early onset and rapid progression, leading to rotatory dislocation. Spinal cord compression occurred in four cases with respiratory problems related to chest deformity. (b) Bilateral and symmetrical incomplete ossification of the ischial rami. (c) Peculiar facies with retrognathia. (d) Normal clavicles. Three patients were from the same family (grandmother, mother and daughter). Conclusion. Ischio-vertebral dysplasia seems to represent a true entity, with radiological and genetic findings that make it distinct from cleidocranial dysostosis. The association of kyphoscoliosis and these pelvic abnormalities is specific for this condition. Neurological and respiratory complications can be avoided if the condition is recognised early and early treatment is instituted.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050556
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Radiological analysis of hyaline membrane disease after exogenous surfactant treatment (1999)
    Springer
    Pediatric radiology 29 (1999), S. 56-60 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background. Exogenous surfactant treatment of hyaline membrane disease is known to modify the pattern of radiological changes on the chest radiograph. Objectives. To analyse and attempt to explain the radiological changes observed after exogenous surfactant treatment. Materials and methods. Thirty-nine premature infants with typical hyaline membrane disease. Results. Transient asymmetrical clearing with better aeration of the right lung in the absence of malposition of the tip of the endotracheal tube was observed in nine cases (23 %). This asymmetry was patchy in one case. It was due to a complication of mechanical ventilation in three cases [pneumothorax (n = 2) and pneumomediastinum (n = 1)]. In the other six cases, asymmetrical clearing could be related to the anatomical position of the right main bronchus, which facilitates distribution of surfactant to the right lung. However, the course of these premature infants was similar to that of infants with symmetrical chest radiological findings after treatment. Conclusions. Asymmetrical clearing of chest radiographs, sometimes patchy, after surfactant treatment requires exclusion of pneumothorax or infection but has no influence on clinical outcome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050535
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  • 5
    Electronic Resource
    Electronic Resource
    Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1 (1999)
    Springer
    Pediatric radiology 29 (1999), S. 194-198 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report three children, all younger than 2 years of age, presenting with cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive metabolic disease. One patient had multisystem disease; two others had mental retardation with ataxia. In all cases the cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one case, confirmed by autopsy. The cerebellar atrophy predominantly affected the anterior lobe. Vertical orientation of the tentorium cerebelli from the neonatal period in two cases suggests antenatal onset of the disease. Biological tests confirmed the diagnosis in all cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002470050571
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    Paper (German National Licenses)
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