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  • 1
    Electronic Resource
    Electronic Resource
    Does prolactin control the blood progesterone level on early dioestrus in rats? (1982)
    Springer
    Cellular and molecular life sciences 38 (1982), S. 1253-1254 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Bromocriptine treatment on either prooestrus or oestrus in female rats did not affect luteal function on the day of dioestrus 1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01959771
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  • 2
    Electronic Resource
    Electronic Resource
    Focal necroses, fatty degeneration and subendocardial nuclear polyploidization of the myocardium in newborns after β-sympathicomimetic suppression of premature labor (1981)
    Springer
    European journal of pediatrics 136 (1981), S. 149-157 
    Details
    ISSN: 1432-1076
    Keywords: β-Sympathicomimetics ; Tocolysis ; Myocardial lesions ; Cytophotometry ; Nuclear DNA poly-ploidization
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract It has been well documented in laboratory animals that β-sympathicomimetics, such as isoprenalin, can cause myocardial lesions. Other so called “β2-selective” symphaticomimetic drugs, which nevertheless induced β1-cardiostimulatory side effects, are now widely used for suppression of premature labor. We examined the hearts of 25 newborns whose mothers had been treated with β-sympathicomimetics for various lengths of time (24 h to 8 weeks). Three types of lesions were detected: (1) focal subendocardial necroses (3 cases), similar to isoprenalin-induced myocardial necroses in animal experiments, (2) diffuse fatty degeneration of myocardial cells (3 cases), and (3) nuclear polyploidization in the subendocardial layer of the right ventricular wall (14 cases). However, the immediate causes of death could not be directly related to the tocolytic treatment in any of the cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441917
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  • 3
    Electronic Resource
    Electronic Resource
    Restrictive dermopathy: A lethal congenital skin disorder (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 95-98 
    Details
    ISSN: 1432-1076
    Keywords: Restrictive dermopathy ; Fetal akinesia/hypokinesia deformation sequence
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Restrictive dermopathy is a recently described lethal congential disorder of the skin with an autosomal recessive mode of inheritance. The rigidity of the skin impairs fetal movements in utero and causes arthrogryposis, as well as highly characteristic facial features and pulmonary hypoplasia. We report two cases of restrictive dermopathy in prematurely born infants, describe the typical pathological findings and discuss this disorder in the context of the fetal akinesia/hypokinesia deformation sequence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072481
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  • 4
    Electronic Resource
    Electronic Resource
    Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15 (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 229-231 
    Details
    ISSN: 1432-1076
    Keywords: Chromosomal aberration ; Ring chromosome 15 ; Dysplasias ; Malformations ; Ventricular septal defect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 20-day-old female neonate was admitted with symptoms caused by a large ventricular septal defect which was subsequently confirmed angiographically. Other clinical findings were pre-and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet. Cytogenetic analysis revealed a ring chromosome 15. Despite a palliative banding operation of the pulmonary artery, the infant succumbed to complications of her congenital heart disease in the 4th month of life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442457
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  • 5
    Electronic Resource
    Electronic Resource
    Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 56-59 
    Details
    ISSN: 1432-1076
    Keywords: Glutaric aciduria type II ; Multiple acyl-CoA dehydrogenase deficiency ; Organic aciduria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two male siblings suffering from a severe form of glutaric aciduria type II were studied. One patient died within one hour after birth, the other at the age of five days. Both patients presented with respiratory distress soon after birth. They had a variety of congenital morphologic abnormalities. One patient's outstanding “sweaty-feet” odour on the second day of life led to organic acid analysis of urine revealing massive lactic, glutaric, and ethylmalonic aciduria along with a high excretion of various other carboxylic acids and glycine conjugates of the branched chain carboxylic acids. The pattern of metabolites in serum and urine as well as results of degradation studies with various substrates in cultured fibroblasts were consistent with a defect in multiple acyl-CoA dehydrogenation. The morphological abnormalities are presented in a subsequent paper.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442081
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  • 6
    Electronic Resource
    Electronic Resource
    Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia (1978)
    Springer
    European journal of pediatrics 128 (1978), S. 197-205 
    Details
    ISSN: 1432-1076
    Keywords: Propionic acidemia ; Organic acidemias ; Organic acidurias ; Inherited disorders of the metabolism of organic acids ; 2-Methyl-3-oxovaleric acid ; Liver histology in propionic acidemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach einer kurzen Erläuterung der biochemischen Grund-lagen wird am Beispiel eines eigenen Falles von Propionacidämie auf die Frühsymptomatik (vermehrte Schläfrigkeit, Muskelhypotonie, Trinkschwäche, Hypothermie, metabolische Acidose, Ketonurie, Erbrechen), die durchgeführten Therapieversuche, die Obduktionsbefunde und auf Urinuntersuchungen mit Hilfe der Gaschromatographie und der Gaschromatographie-Massenspektrometrie eingegangen. Diese Untersuchungen ergaben, daß neben den bei Propionacidämie bekanntermaßen im Urin ausgeschiedenen Metaboliten, wie Propion-, 3-Hydroxypropion- und Methylcitronensäure, auch 2-Methyl-3-oxovaleriansäure, das Kondensationsprodukt zweier Moleküle Propionyl-CoA, in nennenswertem Umfang synthetisiert und im Harn nachgewiesen werden kann.
    Notes: Abstract A new case of propionic acidemia is presented, paying special attention to the early symptoms of this disease, such as increased drowsiness, muscular hypotonia, poor feeding, hypothermia, metabolic acidosis, ketonuria and vomiting. Investigation by gas chromatography (GC) and gas chromatography-mass spectrometry (GC-MS) revealed the excretion of fairly high amounts of 2-methyl-3-oxovaleric acid, a condensation product of two molecules of propionyl-CoA, as well as the known pathological metabolites such as propionic, 3-hydroxypropionic and methylcitric acids. Among the post mortem findings the histological studies of the liver were the most remarkable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00444305
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  • 7
    Electronic Resource
    Electronic Resource
    Solitary rhabdomyoma of the heart (1980)
    Springer
    European journal of pediatrics 134 (1980), S. 167-172 
    Details
    ISSN: 1432-1076
    Keywords: Cardiac rhabdomyoma ; Sudden unexpected death ; Glycogen storage in hamartoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a case of cardiac rhabdomyoma leading to sudden, unexpected death in an 11-monthold child. Autopsy disclosed a firm nodular tumor located in the anterior part of the interventricular septum and anterior wall of the left chamber. The tumor bulged into the cavity of the left ventricle and caused appreciable narrowing of the outflow tract. Histologically, the typical “spider cells” characteristic for cardiac rhabdomyoma could be found. Sections cut from alcohol-fixed tissues and stained in water-free PAS showed that these cells contained massive amounts of a diastase-digestible PAS-positive material, presumably glycogen. No evidence of tuberous sclerosis was detected. Sudden death was attributed to cardiac arrest due to irritation of the conducting system by the tumor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01846040
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  • 8
    Electronic Resource
    Electronic Resource
    Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers (1982)
    Springer
    European journal of pediatrics 139 (1982), S. 60-65 
    Details
    ISSN: 1432-1076
    Keywords: Multiple acyl-CoA-dehydrogenation deficiency ; Glutaric aciduria type II ; Congenital polycystic kidneys ; Fatty liver ; Cerebrocortical dysplasia ; Fetopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The post mortem and microscopic findings of two newborn male sibling of Turkish origin suffering from multiple acyl-CoA-dehydrogenation deficiency (glutaric aciduria type II) are reported in detail for the first time. The morphological disease pattern was strikingly identical in both siblings: enlarged bilateral polycystic kidneys, symmetric warty dysplasia of the cerebral cortex, and bile duct hypoplasia, cholestasis, siderosis and fatty degeneration of the liver were found in both infants. In addition, features of Potter syndrome (pulmonary hypoplasia and ‘Potter face’) were observed only in sibling I, and focal hypoplasia and dysplasia of pancreatic ducts only in sibling II. It appears to be a rather remote chance that the rare metabolic disorder accidently coincided with the equally rare developmental abnormality in both siblings. We believe it to be more likely that both conditions are pathogenetically related in that the accumulation of large quantities of carboxylic acids exerted their effect already in intrauterine life, probably leading to cellular damage and secondary developmental defects of the fetal kidneys, liver, pancreas and brain. From the nature of the observed morphological alterations we speculate that the injury did not occur until after cessation of organogenesis during the fetal period of intrauterine development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442082
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  • 9
    Electronic Resource
    Electronic Resource
    Chondroectodermal dysplasia (Ellis–van Creveld syndrome) with dysplasia of renal medulla and bile ducts (1978)
    Oxford, UK : Blackwell Publishing Ltd
    Histopathology 2 (1978), S. 0 
    Details
    ISSN: 1365-2559
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: A case of a 28-month-old boy with chondroectodermal dysplasia (Ellis-van Creveld syndrome) is reported. Besides polydactyly, ectodermal dysplasia, acromelic dwarfism and congenital heart defect, which are characteristic morphologic features of the syndrome, additional dysplastic developmental defects were discovered in the kidneys, liver, and lungs. Detailed histopathologic studies of the growth plates of tibia, femur and ribs disclosed an irregular, partly hyperplastic, partly dystrophic appearance of the epiphyseal cartilage, which was not resorbed properly by the invading blood vessels. Focal areas of necrosis occurred and barriers of tongue-shaped cartilaginous peninsulas persisted. Regular enchondral ossification was hindered and compensatory membrane ossification was found in the fibrosing metaphyseal bone marrow adjacent to the cartilage. Dysplasia and fibrosis of the renal medulla plus interstitial fibrosing nephritis in the cortex resulted in kidney contraction and renal failure. Hepatomegaly, portal fibrosis and bile duct hyperplasia and dysplasia were detected at autopsy, but did not have any clinical significance. These findings once again emphasize that derivatives of all three germ layers are involved in the Ellis-van Creveld syndrome. The possibility that a single metabolic or structural abnormality of the mesenchymal tissues could be responsible for the various organ dysplasias is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2559.1978.tb01719.x
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  • 10
    Electronic Resource
    Electronic Resource
    Examination of cutaneous macroglobulinosis by immunoelectron microscopy (1996)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 135 (1996), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Cutaneous macroglobulinosis is a rare cutaneous manifestatiou of Waldenstrom's disease. Lesions are thought to result from accumulation of macroglobulin in the dermis and are therefore called IgM storage papules. Ultrastructural findings in the previously reported cases were contradictory and the nature of the deposits was not established by electron microscopy. The purpose of this study was to analyse such deposits by the use of immunoelectron microscopy. A 60-year-old woman had multiple erythemalous papules for 1 year. The histopathological changes consisted of plasmocytic infiltration of the dermis and eosinophiiic deposits. The skin changes and other investigations led to a diagnosis of Waldenstrom's disease. Samples from normal and diseased, skin were analysed by electron microscopy and by immunogold labelling with anti-IgM antibodies, after Lowicryl K4M embedding. An extracellular electron dense granular and filamentous material was observed in the mid- and upper dermis, between and within the collagen bundles. No periodicity was noted and no deposits were seen at the dermoepidermal junction. Immunoelectron mieroscopy showed a positive labelling located only on these deposits, in both normal-appearing skin and in lesions. In this patient, immunoelectron microscopy clearly demonstrated the presence of large amounts of IgM in the dermis, which were found in the lesions of cutaneous macroglobulinosis and in normal skin. These results suggest that the IgM storage papules result from a greater density of deposits rather than a site-specitic accumulation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2133.1996.tb01163.x
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