Electron microscopy of the central nervous system surface structure is described in two fetuses with Fukuyama congenital muscular dystrophy (FCMD). In addition to relatively large surface defects, many minute defects less than several micrometers in size associated with protrusion of glial cytoplasm were observed in the cerebrum. These findings were considered to represent early changes prior to cortical dysplasia. The basement membrane adjacent to the defects showed amorphous, wavy, or whorled configurations, and gradually disappeared. The glial cytoplasmic membrane seemed to be relatively well preserved in some areas where the basement membrane disappeared. On the other hand, both the basement membrane and cytoplasmic membrane became indistinct irregularly in areas without defects, including the spinal cord; similar lesions were found in the skeletal muscle. These observations confirm previous observations concerning defects of the pial-glial barrier of the brain surface, and may suggest the involvement of abnormal basement membrane or related structures, or both, in the genesis of the brain lesions of FCMD.
We have undertaken an immunohistochemical study of laminin subunits in the central nervous system (CNS) of fetuses and patients with Fukuyama congenital muscular dystrophy (FCMD) and of controls including five fetuses. Immunoreaction product deposits with antibodies to laminin alpha 1, alpha 2, beta 1 and gamma 1, and beta-dystroglycan were detected on the surface and vessels of the CNS of controls. No staining with anti-alpha-sarcoglycan antibody was detected in the CNS. Neurons and glia did not react with any of the antibodies used. In utero expression of laminin subunits and beta-dystroglycan seemed to be lower in the cerebrum than in the spinal cord. Moreover, immunostaining for laminin alpha 2 and beta 1 tended to be weak on the fetal spinal cord surface. Expression of laminin subunits and dystrophin-associated proteins in the CNS may be modulated during development, as in the skeletal muscle. The distribution of immunoreaction product deposits was basically the same in FCMD and controls, although laminin alpha 2 and beta-dystroglycan expression appeared to be decreased in the CNS of the FCMD cases. Defects of the pial-glial barrier of the fetal brain surface have been considered the main cause of micropolygyria in FCMD, and these observations suggest that the co-localization and secondary loss of these proteins in association with the unknown product(s) of the FCMD gene might be involved in the CNS lesions of this disorder.
Abstract.Initial investigations of a 70-year-old woman with clinical Cushing's syndrome, including overnight dexamethasone suppression test, CRH test, and pituitary MRI, suggested the presence of ectopic ACTH production. Thoracic computed tomography (CT) scan revealed a mass measuring 7 mm in the right lung, but it was thought to be an incidental opacity, leaving the source of ectopic ACTH undetermined for several years. During this period, although the size of the lung opacity did not change remarkably, serum cortisol levels became elevated to 43 pg/dl, and the patient's symptoms worsened.T1-201 SPECT demonstrated intense accumulation in the right lung. The mass was surgically resected using thoracoscopy to investigate it as the focus of ACTH production.Histological and immunohistochemical examination confirmed that the area of intense T1-201 uptake was an ACTH-producing bronchial carcinoid.Plasma ACTH and cortisol levels decreased immediately after the surgery. In conclusion, this case demonstrated T1-201 scintigraphy as a useful tool in identifying the location of an ACTH-producing bronchial Carcinoid.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.