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  • 1
    ISSN: 1432-0533
    Keywords: Key words de Lange syndrome ; Septo-optic dysplasia ; Cerebellar hypoplasia ; Commissural defects
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei, corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary. The brain had malformative features of septo-optic dysplasia combined with commissural dysplasia and cerebellar vermian hypoplasia. This case suggests an interrelationship between Cornelia de Lange syndrome and midline development of the brain.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Key words Cortical dysplasia ; Dwarfism ; Leprechaunism ; Megalencephaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This report concerns an autopsy case of megalencephaly exhibiting a unique combination of physical and brain malformations. A 4-year-old boy had a peculiar face, a severe reduction of subcutaneous adipose tissue, severe growth failure and frequent hypoglycemic episodes. These clinical features were compatible with leprechaunism; however, the absence of hyperinsulinemia and insulin resistance prevented the diagnosis of leprechaunism. The autopsy disclosed complex cardiac and brain malformations. Although hydrocephalus coexisted, the brain weight after complete removal of the cerebrospinal fluid was 2260 g, which was greater than the average brain weight of normal Japanese children of the same age. The neuronal density in the cerebral cortex was decreased, while the surface area of the cerebral cortex and white matter were greater than those in an age-matched control. There was cortical dysplasia in the frontal and parietal lobes. Endocrine tests and immunohistochemical analysis of the brain did not demonstrate any abnormalities in the hypothalamus-pituitary system. Megalencephaly can be associated with dwarfism, and this case is important for consideration of the interrelationship between neuronal proliferation and physical growth.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0533
    Keywords: Key words Calcium-binding protein ; Enkephalin ; Hypoxic encephalopathy ; Immunohistochemistry ; Marbled state
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have immunohistochemically analyzed the marbled state in 8 cases of perinatal hypoxic ischemic encephalopathy and 4 cases of infantile hypoxic encephalopathy, using antibodies against calbindin-D28k (CaBD), glial fibrillary acidic protein (GFAP), methionine-enkephalin (MEnk), myelin basic protein (MBP), neurofilament (NF), parvalbumin (PV), substance-P (SuP) and synaptophysin (SP). The marbled state was found in the thalamus in 11 cases, whose age at death was over 10 years. Four cases demonstrated the marbled state in the cerebral cortex, in addition to the striatum and/or the thalamus. The abnormally myelinated fibers in the marbled state were stained with both Klüver-Barrera and Holzer stainings; however, they were partly immunopositive for MBP and completely immunonegative for GFAP, CaBD, MEnk, PV, SuP and SP, although some of the neurons and/or fibers showed immunoreactivities for those calcium-binding proteins and/or neurotransmitters. The axons were visualized in the abnormally myelinated fibers by Bodian staining and/or anti-NF immunostainings in the cerebral cortex and striatum but not in the thalamus. GFAP-positive astrocytes did not show any continuity with the abnormally myelinated fibers. These histological features were seen in the cerebral cortex, striatum and thalamus. Difference of the etiology did not affect the histological features with the exception of anti-PV staining, in which PV-immunopositive neurons were observed only in aged subjects with infantile hypoxic encephalopathy, and seemed to be more severely affected by hypoxic stress during the perinatal period than the early infantile period. These data suggest that the site of lesion or the length of survival period after brain injury might influence the formation of the marbled state rather than the etiology. And the direct relationship between the abnormally myelinated fiber and astrocytic process was not verified.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Surgical endoscopy and other interventional techniques 10 (1996), S. 850-851 
    ISSN: 1432-2218
    Keywords: Diaphragmatic rupture ; Blunt trauma ; Thoracoscopy ; Thoracoscopic repair ; Diaphragmatic hernia ; Endoscopic hernia stapler
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 51-year-old man with a traumatic diaphragmatic rupture is presented. Preoperatively, diaphragmatic rupture and herniation of the stomach into the left thoracic cavity were suspected. Under thoracoscopic guidance, the stomach and omentum were repositioned in the abdominal cavity using Babcock forceps, and then the rupture site was closed using an endoscopic hernia stapler. The postoperative course was uneventful and the patient was discharged from our hospital with no symptoms.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Surgical endoscopy and other interventional techniques 10 (1996), S. 850-851 
    ISSN: 1432-2218
    Keywords: Key words: Diaphragmatic rupture — Blunt trauma — Thoracoscopy — Thoracoscopic repair — Diaphragmatic hernia — Endoscopic hernia stapler
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. A 51-year-old man with a traumatic diaphragmatic rupture is presented. Preoperatively, diaphragmatic rupture and herniation of the stomach into the left thoracic cavity were suspected. Under thoracoscopic guidance, the stomach and omentum were repositioned in the abdominal cavity using Babcock forceps, and then the rupture site was closed using an endoscopic hernia stapler. The postoperative course was uneventful and the patient was discharged from our hospital with no symptoms.
    Type of Medium: Electronic Resource
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