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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 33 (1975), S. 285-305 
    ISSN: 1432-0533
    Keywords: I-cell disease ; Membrane-bound vacuoles ; Fibroblasts ; Mucopolysaccharidoses ; Mucopolipidoses
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The single most characteristic morphological feature in I-cell disease (ICD) is the accumulation of membrane-bound vacuoles in mesenchymal cells (mainly fibroblasts). No true storage can be documented in those vacuoles. That their contents could have been dissolved during fixation or embedding remains however a possibility. Remnants consisting of a few lamellar arrays and of small amounts of fibrillo-granular material are too scarce for histochemical characterization. In hepatocytes large cells in the white pulp of the spleen and in myocardial fibers, vacuoles with fixative insoluble contents have been discovered; they are nowhere very abundant and their specificity is questionable. Because the affected fibroblastic elements represent a small fraction in any organ, most secondary biochemical abnormalities are expected to be detectable only in purely fibroblastic tissues. Our pathological study contributes to the understanding of some of the clinical features characteristic of ICD and stresses major morphological differences between ICD and the many diseases classified as mucopolysaccharidoses and mucolipidoses.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Gangliosidoses ; Lysosomes ; Metabolic Diseases ; Hexosaminidase ; Brain ; Liver
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Biochemical studies were performed on brain biopsies, and ultrastructural studies on brain and liver biopsies from three children presenting clinically the infantile form of Tay-Sachs disease. Gangliosides were markedly increased both in grey and white matter, and consisted mainly of fraction GM2. In one case (patient 1), the amount of N-acetylaminotrihexosyl-ceramide, the asialo-residue of ganglioside GM2, was much larger than in the two other cases (patients 2 and 3). Enzyme studies performed on liver tissue disclosed, in patient 1, a nearly complete absence of the total hexosaminidase activity, which was within normal limits in the two other cases. Ultrastructural data in brain and liver were also different in the three cases. In patient 1, the lipid inclusions of the neurons, astrocytes and endothelial cells were markedly more pleiomorphic than in cases 2 and 3. In the liver of patient 1, hepatocytes and, in a lesser degree, Kupffer cells were full of lipid inclusions, whereas in the two other cases, only a small number of lipid lamellar elements were present in a few cells.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 72 (1986), S. 142-149 
    ISSN: 1432-0533
    Keywords: Congenital myopathy ; Minicores ; Multicores ; Focalloss of cross striations ; Pleocore disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report clinical and morphological data on seven patients with a congenital myopathy as well as data concerning five parents. Classical myopathies such as rod disease, centronuclear myopathy or central core disease could be ruled out. Structural abnormalities of intracellular organelles or particulate inclusions were rare and insignificant. The most prominent and constant features were minicores and focal loss of cross striations, associated with a prevalence of type 1 fibres, increasing with the age at time of biopsy. A carrier state could not be defined in the five examined parents neither on clinical nor on morphological grounds. Although our group of patients could not clinically be distinguished from other congenital myopathies, the combination of the lesions allow their individualization as a subgroup of multicore or minicore disease under the alreay proposed denomination of pleocore disease [Martin and Busch, abstract in Zentralbl Allg Pathol 124:156 (1980)]
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0533
    Keywords: Menkes disease ; Copper deficiency ; Arterial elastic membranes ; Necroses ; Demyelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two cases of Menkes disease belonging to different families are reported in order to illustrate different types of central nervous system involvement. In the first case which documents the sex-linked recessive inheritance, arteriographic studies have shown that the vascularization of the brain was severely impaired. Postmortem examination revealed lesions of the elastic membranes of large and medium calibre arteries, widespread and extremely severe necroses of grey and white matter with relative sparing of the territories irrigated by the vertebro-basilar system. The dendritic tree of the Purkinje cells was atrophied, somal sprouts were not found. Electron microscopy showed the mitochondria to be morphologically normal. In the second case, there was a bilateral demyelination predominating in the temporal lobes' white matter while arterial alterations and anoxic lesions were present but less prominent. The Purkinje cells were normal. Considering the role of copper as a co-factor for different enzymes, it is possible to explain many features of Menkes disease on the basis of a lack of copper (Danks et al., 1972a, b). Multiple elements play a role in the pathogenesis of the C.N.S. lesions: some alterations, such as the parenchymatous necroses, depend from circulatory disturbances related to arterial abnormalities; others, such as the demyelination, the dystrophic features etc., could be linked to various enzymatic deficiencies susceptible to interfere with postnatal myelination and differentiation of cell membranes as illustrated by the study of spontaneous and experimental animal diseases.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 56 (1982), S. 303-306 
    ISSN: 1432-0533
    Keywords: Citrullinaemia ; Hyperammonaemia ; Argininosuccinate synthetase deficiency ; Alzheimer type 2 glial cells ; Ulegyria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The examination of the central nervous system (CNS) of an 11-month-old citrullinaemic patient revealed an ulegyria with a dense fibrillary gliosis and large amounts of lipid phagocytes. Alzheimer type 2 glial cells were present in intact cortical areas. While such cells were related to the insufficiently controlled hyperammonaemia, the ulegyria resulted from impaired oxygenation or impaired blood circulation, possibly influenced by the hyperammonaemia and citrullinaemia.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1990), S. 668-668 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-1076
    Keywords: Cystic fibrosis ; Pseudomonas aeruginosa ; Once-daily antibiotics ; Aminoglycosides ; Child
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Twenty cystic fibrosis patients aged 1.8–22 years (mean ±SD: 9.6 ± 4.8 years) withPseudomonas aeruginosa pulmonary exacerbations were treated with amikacin (AM) (35 mg/kg/day in one daily 30 min infusion) associated with either ceftazidime (200 mg/kg/day in 3 i.v. injections) (n = 19) or imipenem (n = 1) at the same dose. Glomerular and tubular functions (creatinine clearance, 24-h proteinuria, β2 microglobulinuria, lysozymuria) and audiometry remained within normal ranges from day 0 to day 14. A peak concentration of AM of 83 ± 19 mg/l and a trough concentration of 0.8 ±0.5 mg/l were observed in blood while AM levels in sputum were above the minimal inhibitory concentration 50 from 30 min to 16 h. No serum accumulation of AM was observed during the treatment. From day 0 to day 14, the following changes were observed: weight/height ratio: 96%–100% (P 〈 0.001); daily energy intake: 111%–128% of RDA (P 〈 0.001); prealbumin: 195–290 mg/l (P 〈 0.001); forced vital capacity (FVC): 66%–81% (P 〈 0.01); forced expiratory volume in 1 s: 60%–75% (P 〈 0.01); forced expiratory flow between 25% and 75% of FVC: 42%–56% (P 〈 0.01); nocturnal SaO2 also improved significantly; cardiac rate decreased from 89 ±18/min to 76 ± 16/min (P 〈 0.001); respiratory rate decreased from 31 ±15/min to 26 ± 10/min (P 〈 0.05); inflammatory parameters (white blood cells, polymorphonuclear cells, erythrocyte sedimentation rate) also improved.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 118 (1974), S. 231-247 
    ISSN: 1432-1076
    Keywords: Inborn error ; Hyperammonemia ; Urea cycle ; Ornithine carbamyl transferase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new case of deficiency of ornithine-carbamyl transferase is reported. To the best of our knowledge, this is the 23rd case (10th case in a male). This new case is conventional as far as the clinical and biological data are concerned. Nevertheless, an original feature must be noted: The enzyme deficiency, while large (2% of the normal), is clinically well tolerated at the age of 9 months with a simple restriction of proteins. A review of the literature shows, in fact, that the other male children showing a deficiency below 5% of normal have all died in the post natal period.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 141 (1983), S. 92-95 
    ISSN: 1432-1076
    Keywords: Hyperphenylalaninemia ; Biopterin ; Tetrahydrobioterin deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract For the last 2 years, a program has been developed to screen all hyperphenylalaninemic babies for tetrahydrobiopterin deficiency, by measurement of pterins in urine. High neopterin and low biopterin levels were found in the urine of a 1-month-old girl. Further investigations confirmed an impaired conversion of neopterin to biopterin. No neurological signs were noted, but, in regard to the laboratory data, neurotransmitter replacement therapy was instituted at 2.5 months of age. The most remarkable feature was a rapid increase in the dietetic phenylalanine tolerance, despite the proof that the child was not able to clear a challenging dose of phenylalanine and the record of unchanged pathologically low excretion of biopterin during a 2 month period.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Phenylalanine intake ; Diet discontinuation ; Performance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Conclusion We did not observe any loss of mean IQ scores measured at 11 when PKU diet was stopped as early as 5 years of age compared to 8 years. Nevertheless, 44% of these children presented learning disabilities and repeated one or more school years. These difficulties appear before or at early elementary school level and are independent of the age of diet discontinuation between 5 and 8 years. They seem to be related to perceptual motor dysfunction, suggesting the possibility of a specific deficit that could seriously interfere with academic progress but which is not accompanied by obvious impairment of overall intellectual functioning [1, 4–7, 9]. Among the children who repeated at least 1 year, there was a much higher percentage of pupils who repeated 2 or more school years than in the scholar national average population. The most important factor related to these difficulties seems to be the parents' socioeconomic status, which is also correlated with the children's IQ scores. This influence is not due to the quality of the diet, which is roughly similar for all the patients whatever their school performance. PKU seems to amplify learning difficulties already present in unaffected siblings. Whether the difficulties would be avoided by continuing the diet throughout elementary school remains undemonstrated.
    Type of Medium: Electronic Resource
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