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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 30 (1974), S. 345-354 
    ISSN: 1432-0533
    Keywords: Fabry's Disease ; Autopsy ; Histochemistry ; Biochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Pathological and biochemical studies were performed on a patient with Fabry's disease. Abnormal deposits in the nervous system were restricted mainly to neurons of the autonomic nervous system. Affected neurons were found in the supraoptic and paraventricular nuclei, the midline nucleus, substriatal grey, nucleus amygdalae, presubiculum of hippocampus, fifth and sixth cortical layers of the parahippocampus and inferior temporal gyrus, dorsal motor nucleus of the vagus, superior and inferior salivatory nuclei, Edinger-Westphal nucleus, reticular formation of the pons and medulla oblongata, trigeminal ganglia, non-pigmented cells of the substantia nigra, intermediolateral column, spinal dorsal root ganglia, sympathetic ganglia and the submucous and myenteric plexuses. Abnormal deposits were found also in the periventricular glial cells, perineurium, the endothelial and smooth muscle cells of blood vessels throughout the body, the heart, kidneys and reticuloendothelial cells of many organs. The histogram of the sural nerve showed a decrease in the smaller myelinated and unmyelinated fibers. The abnormal deposits were glycolipids, CTH and CDH. Although there were two distinct staining characteristics of the deposited material with Luxol fast blue and PAS in paraffin section, these differently stained deposits could not be differentiated by histochemical and biochemical studies.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 30 (1974), S. 91-107 
    ISSN: 1432-0533
    Keywords: Pierre Robin Syndrome ; Neuropathology ; Biochemistry ; Undernutrition ; Cerebral Hypoxia ; Cerebral Development ; Mental Retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Clinical, light and electron-microscopic, and biochemical observations are presented in an 11 years old boy with Pierre Robin Syndrome; micrognathia, cleft palate and glossoptosis. Respiratory distress and feeding difficulties were early and serious complications of the glossoptosis. “Cachexia”, a striking physical underdevelopment, profound psychomotor retardation and epilepsy constituted the prominent clinical features. The neuropathology of the syndrome was characterized by the following: 1. Arrest in cerebral growth and maturation; 2. Mild diffuse and laminar cortical neuronal losses and astrocytic fibrosis; and 3. Minor histogenetic anomaly in the cerebellar cortex. The arrest in cerebral development was reflected grossly by microencephaly and, histologically by “immaturity” of numerous cortical neurons, poverty of intracortical fibrillary plexuses, poor establishment of cytoarchitectonic characteristics and hypoplasia of hemispheric white matter. At subcellular level, there was diminution of cytoplasmic organelles, particularly the rough endoplasmic reticulum. A marked deficiency in myelin lipids and severe diminution of total ganglioside concentration in the cerebral cortex were the major biochemical findings. In the pathogenesis of cerebral alterations congenital factors and the complications of “glossoptosis” were considered. It was suggested that the early undernutrition played an important role in the impediment of cerebral growth and maturation. The cerebral hypoxic insults further curtailed the development of already compromised neurons and depressed their functional activities, particularly in the more susceptible cerebral cortex. It was proposed that the arrested brain development provided a substantial structural basis for the psychomotor retardation.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Acta neuropathologica 27 (1974), S. 225-232 
    ISSN: 1432-0533
    Keywords: GM2 Gangliosidosis ; Juvenile Type ; Biochemistry ; Hexosaminidase A ; Altered Substrate Specifity ; Galactosaminidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The N-acetyl-β-d-hexosaminidases A and B were extracted from the liver tissue of a patient who died from juvenile GM2-gangliosidosis at the age of $$14{1 \mathord{\left/ {\vphantom {1 2}} \right. \kern-\nulldelimiterspace} 2}$$ years. The enzymes were separated from each other and studied in comparison to enzyme preparations from normal tissue. The kinetic parameters studied (pH profiles, Michaelis constants, heat lability) and the substrate specificity of the B-enzyme appeared normal. The activity of the A-enzyme against two artificial substrates was lowered in the pathological tissue to 53% and 41% of the control and to 27% of the control against the storage compound trihexosylceramide (ceramide-glucose-galactose-N-acetylgalactosamine). Furthermore, using the main storage compound ganglioside GM2 (ceramide-glucose-galactose-[N-acetylneuraminic acid]-N-acetylgalactosamine) as substrate, no N-acetyl-β-d-galactosaminidase activity was found in the extracts from pathological liver tissue.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1106
    Keywords: Hypothalamo-neurohypophyseal system ; Dehydration ; Acid phosphatases ; Biochemistry ; Histochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The activities of acid orthophosphoric-monoester-phosphohydrolases in the supra-opticus nucleus and the neurohypophysis of the rat were measured at pH 4.1 and 5.3 by biochemical assay and by histospectrophotometric method after a thirsting period of 1–12 days. For the neurohypophysis the biochemical and histophotometrical results are convergent. These enzymatic activities increase during the entire experimental period but if the biochemical results are expressed for 100 μg of proteins the elevation is only significant at pH 4.1. For the supra-optic nucleus, changes in enzymatic activities are different by histophotometric and biochemical methods. It is assumed that in the rat hypothalamo-neurohypophyseal system the acid phosphatases are distributed between two separate pools: (1) one strongly bound to cytoplasmic membrane structures, particulary abundant in the perikarya of the supra-optic nucleus, and (2) another pool of “free” or easily discharged enzyme, the major component in the neurohypophysis; our biochemical assay measures only this “free pool”. The role of these pools in the synthesis and release of vasopressin is presumably different.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Archives of toxicology 32 (1974), S. 115-130 
    ISSN: 1432-0738
    Keywords: Enzyme Induction ; Lindane ; Functional Tests ; Biochemistry ; Morphology ; Enzyminduktion ; Lindan ; Funktionelle Tests ; Biochemie ; Morphologie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Nach kurzzeitiger oraler Lindanapplikation (5 mg/kg, 20 mg/kg) wurden an männlichen Ratten verschiedene funktionelle, biochemische, histochemische und elektronenmikroskopische Untersuchungen angestellt. Dabei wurde keine Beeinflussung der Motilität und Exploration (open field-Test), der Lebergewichte und der histochemisch dargestellten Enzyme durch die Lindanmedikation gefunden. Die Schlafzeit, gemessen nach Pentobarbital i.p., war dosisund zeitabhängig reduziert. Der Leberglykogengehalt von behandelten und Kontrolltieren unterschied sich nicht, wenn die Tiere Futter ad libitum aufnehmen konnten. Nach 24 Std Futterentzug wurde bei den behandelten Tieren eine Tendenz zur Glykogenverminderung in der Leber festgestellt. Die Ascorbinsäureausscheidung im Urin war um ein Vielfaches erhöht, während das Blutserum eine Verdoppelung der Ascorbinsäurekonzentration aufwies (als Transporteffekt gedeutet). Elektronenmikroskopisch fand sich eine deutliche Vermehrung des glatten, endoplasmatischen Reticulum, besonders in Hepatocyten der Intermediärzone. Die gefundene Zunahme freier Ribosomen wird mit der verstärkten Bildung von mikrosomalem Protein in Verbindung gebracht. Die auch elektronenoptisch dargestellte Glykogenverminderung einzelner Zellen läßt sich als Folge des unter der Enzyminduktion veränderten Metabolismus (erhöhte Glucuronsäurebildung, verstärkte Ascorbinsäuresynthese) erklären. Insgesamt konnte mit der gegebenen Versuchsanstellung kein Hinweis auf hepatotoxische Wirkungen der Prüfsubstanz gefunden werden, so daß sich die funktionellen und morphologischen Äquivalente der Enzyminduktion als adaptative Veränderungen interpretieren lassen.
    Notes: Abstract Following short-term oral administration of Lindane (5 mg/kg, 20 mg/ kg) to male rats, various functional, biochemical, histochemical and electronmicroscope investigations were performed. No effects of the Lindane medication were found in movement and exploration (open-field test), liver weight, and the histochemically presented enzymes. A dose-dependent and time-dependent reduction in the duration of sleep was measured after i.p. pentobarbital. There were no differences in the liver glycogen levels of treated and control animals when food was available to the animals ad libitum. After food had been withdrawn for 24 h, a tendency to reduced liver glycogen was observed in the treated animals. The excretion of ascorbic acid in the urine was several times higher than normal, while the ascorbic acid concentration in blood serum was doubled (attributed to transport effect). The electron microscope revealed a distinct increase in the smooth endoplasmic reticulum, particularly in hepatocytes of the intermediary zone. The observed increase in free ribosomes was thought to be connected with the intensified formation of microsomal protein. The reduced glycogen of individual cells, also observed with the electron microscope, was explained as a result of the change in metabolism caused by enzyme induction (increase in formation of glucuronic acid, increased ascorbic acid synthesis). In all, no hepatotoxic effects of the test substance were found with the given experimental procedure, so the functional and morphological equivalents of enzyme induction can be interpreted as adaptive changes.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 52 (1974), S. 559-567 
    ISSN: 1432-1440
    Keywords: Progressive myoclonus epilepsy (Lafora's disease) ; Type I (Unverricht, Lundborg) ; Type II ; Liver findings ; Clinical aspects ; Histology ; Ultrastructure ; Histochemistry ; Biochemistry ; Glycogenosis type IV ; Progressive Myoklonusepilepsie (Laforasche Erkrankung) ; Typ I (Unverricht, Lundborg) ; Typ II ; Leberbefunde ; Klinik ; Histologie ; Ultrastruktur ; Histochemie ; Biochemie ; Glykogenose Typ IV
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Dem klinischen Bild der progressiven Myoklonusepilepsie (Lafora's disease) liegt eine kongenitale Stoffwechselanomalie mit Ablagerung pathologischer Stoffwechselprodukte vorwiegend im Zentralnervensystem zugrunde. Der häufigere Typ I (Typ Unverricht, Typ Lundborg) zeigt eine regelmäßige Mitbeteiligung von Leber und Myokard sowie teilweise der Muskulatur, der seltenere Typ II ist mit seiner Speicherung nur auf das Zentralnervensystem beschränkt. Die Kenntnis der charakteristischen Leberbefunde kann einmal eine Hilfe sein für die klinische Unterscheidung von Typ I und Typ II, unspezifisch degenerativen Formen der Myoklonusepilepsie sowie gegenüber der myoklonischen Variante der amaurotischen Idiotie. Als eine weitere Möglichkeit könnte das bisher unbekannte Speicherprodukt und der auslösende spezifische Enzymdefekt auf diesem Wege identifiziert werden. Lichtmikroskopisch zeigen die Leberzellen — vorwiegend der Läppchenperipherie — und gelegentlich auch die Kupfferschen Sternzellen eine PAS-positive homogene Speichersubstanz, die in Übereinstimmung mit den Befunden am Zentralnervensystem und am Myocard elektronenoptisch aus granulärem und filamentärem Material aufgebaut ist. Die Deutung der einzelnen Untersucher hinsichtlich der histochemischen und biochemischen Ergebnisse variiert: die Natur des Ablagerungsproduktes wird als Mucopolysaccharid aber auch als Polyglucosan angesprochen. Übereinstimmend sieht man aber die Hauptstörung im Bereich des Kohlenhydratstoffwechsels. Die hier demonstrierten bemerkenswerten licht- und elektronenmikroskopischen Übereinstimmungen mit der Glykogenose Typ IV lassen nach unserer Auffassung nahe Beziehungen zur Gruppe der Glykogenosen annehmen. Als Thesaurismose ist die Laforasche Erkrankung eine potentielle Vorstufe der Cirrhose. Es entwickelt sich eine mehr oder minder ausgeprägte Mesenchymbeteiligung im Sinne einer chronischen Hepatitis. Eine komplette Cirrhose ist jedoch selbst bei den Spätfällen nicht nachzuweisen. Eine Hepatomegalie als Folge der Speicherung fehlt. Spezifische Leberproben fallen negativ aus. Das klinische Bild wird nicht von Seiten der Leber, sondern ausschließlich von der progredienten neurologisch-psychiatrischen Symptomatik der Myoklonusepilepsie geprägt.
    Notes: Summary The cause of clinical manifestations of progressive myoclonus epilepsy (Lafora's disease) is an inborn error of metabolism characterised by deposition of pathologic metabolic products in the central nervous system. In the most common type I (Type Unverricht, Type Lundborg) these deposits are regularly located in liver and myocard, and in some cases also in sceletal muscle. In the less common type II they are found only in the central nervous system. The characteristic liver findings might help to distinguish type I, type II, unspecific degenerative forms of myoclonic epilepsy and the myoclonic form of amaurotic idiocy. They also might be valuable in identification of yet unknown specific enzyme defect leading to tissue deposits. Our light microscopy observations demonstrate deposits of a PAS-positive homogene substance in liver cells—especially in the periphery of lobule— and sometimes in Kupffer cells. By electron microscopy this substance is identified as granular and filamentary material. This corresponds to our findings in the central nervous system and myocard. The interpretation of existing histochemical and biochemical studies did not yet solve the question, if the mentioned deposits are mucopolysaccharides or polyglucosanes, however, it is recognized that the main disorder is an error in carbohydrate metabolism. The notable similarity of our light- and electronmicroscopic observations to results obtained in glycogenosis type IV suggest that Lafora's disease might be another form of glycogenosis. As a thesaurismosis Lafora's disease can predispose to cirrhosis. The activation of mesenchyme, less or more pronounced, corresponds to chronic hepatitis. And even in the late forms a complete cirrhosis is not found. This thesaurismosis does not lead to hepatomegaly. Specific liver function tests are negative. The clinical course is characterised not by liver symptoms but by the neurologic and psychiatric symptoms of progressive myoclonic epilepsy.
    Type of Medium: Electronic Resource
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