Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A quantitative and qualitative Golgi comparison of the visual cortex from two agyric brains and of two age-matched controls is reported. In the camera lucida drawings, most pyramidal cells were oriented vertically to the pial surface in the external cellular layer, frequently with their apical dendrites directed toward the deep layers (inverted pyramidal neurons). The deep cellular layer contained pyramidal and polymorphic neurons normally found in the second to fourth cortical layers. In quantitative analysis of the agyric cortex of a ten-month-old patient, relative immaturity of basal dendritic arborization was apparent together with a bipolar configuration of dendritic development of the pyramidal neurons. The 3-year-old patient had a significant delay in apical dendritic arborization (shorter branch length, decreased number of dendritic intersections) compared with his age-matched normal control. The pathogenesis of the abnormal dendritic development in agyria is discussed.
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PMID:Aberrant dendritic development in the human agyric cortex: a quantitative and qualitative Golgi study of two cases. 320 80

Proton magnetic resonance spectroscopy(1H-MRS) can be used for looking at cerebral metabolites in vivo. However, measurement of concentrations of cerebral metabolites in patients with disturbances of cerebral development have not been successful. Our purpose was to measure the concentrations of cerebral metabolites in such patients. We carried out quantitative 1H-MRS in eight patients with cortical dysplasia, four with lissencephaly and three with heterotopic grey matter and six age-matched normal controls. Regions of interest for 1H-MRS were set over the affected cortex in the patients and the occipital cortex in controls. The calculated concentration of N-acetylaspartate ([NAA]) was significantly lower in the affected cortex in patients with cortical dysplasia (P < 0.05), lissencephaly (P < 0.01), and heterotopia (P < 0.05) than in controls, idnicating a decreased number and/or immaturity or dysfunction of neurones in the affected cortex. The concentration of choline ([Cho]) was significantly lower in patients with lissencephaly (P < 0.01) than in controls, indicating glial proliferation and/or membrane abnormality.
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PMID:Proton magnetic resonance spectroscopy in disturbances of cortical development. 1151 91

We present 2 cases of malformations of cortical development and early onset epilepsy. The first case is of a patient with left hemimegalencephaly who developed focal epilepsy at the age of 2 days and cluster spasms at 1.5 months. After left functional hemispherectomy, seizures originated from the contralateral hemisphere, which had shown normal signals in the preoperative magnetic resonance imaging study. The second case is of a patient with lissencephaly, caused by a missense mutation in the doublecortin gene, who developed West syndrome at the age of 5 months. In both the cases, (123)I-iomazenil single photon emission computed tomography performed during infancy showed significant hyperfixation in the dysplastic lesions. This finding indicates the immaturity of the affected neurons and a gamma-aminobutyric acidergic involvement in epileptogenesis associated with malformations of cortical development during infancy.
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PMID:Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development during infancy. 2150 62