scholarly journals Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

JIMD Reports ◽  
2021 ◽  
Author(s):  
Ivan Shelihan ◽  
Elsa Rossignol ◽  
Jean‐Claude Décarie ◽  
Jean‐Paul Bonnefont ◽  
Michèle Brivet ◽  
...  
Keyword(s):  
Gray Matter ◽  
Normal Development ◽  
Carnitine Palmitoyltransferase

scholarly journals Subcortical heterotopic gray matter brain malformations

Neurology ◽  
2019 ◽  
Vol 93 (14) ◽  
pp. e1360-e1373 ◽  
Author(s):  
Renske Oegema ◽  
A. James Barkovich ◽  
Grazia M.S. Mancini ◽  
Renzo Guerrini ◽  
William B. Dobyns
Keyword(s):  
Cell Proliferation ◽  
Gray Matter ◽  
Normal Development ◽  
Age At Onset ◽  
Molecular Testing ◽  
Brain Malformation ◽  
Motor Disability ◽  
Brain Malformations ◽  
Large Brain ◽  
Postzygotic Mutations

ObjectiveTo better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected individuals.MethodsSUBH is defined as heterotopic gray matter, located within the white matter between the cortex and lateral ventricles. Four large brain malformation databases were searched for individuals with these malformations; data on imaging, clinical outcomes, and results of molecular testing were systematically reviewed and integrated with all previously published subtypes to create a single classification system.ResultsReview of the databases revealed 107 patients with SUBH, the large majority scanned during childhood (84%), including more than half before 4 years (59%). Although most individuals had cognitive or motor disability, 19% had normal development. Epilepsy was documented in 69%. Additional brain malformations were common and included abnormalities of the corpus callosum (65/102 [64%]), and, often, brainstem or cerebellum (47/106 [44%]). Extent of the heterotopic gray matter brain malformations (unilateral or bilateral) did not influence the presence or age at onset of seizures. Although genetic testing was not systematically performed in this group, the sporadic occurrence and frequent asymmetry suggests either postzygotic mutations or prenatal disruptive events. Several rare, bilateral forms are caused by mutations in genes associated with cell proliferation and polarity (EML1, TUBB, KATNB1, CENPJ, GPSM2).ConclusionThis study reveals a broad clinical and imaging spectrum of heterotopic malformations and provides a framework for their classification.

Brain growth and atrophy: Relationships between gray matter thinning and cortical surface morphology during normal development and aging

NeuroImage ◽  
2001 ◽  
Vol 13 (6) ◽  
pp. 1104
Author(s):  
Elizabeth R. Sowell ◽  
Kevin D. Tessner ◽  
Paul M. Thompson ◽  
Katherine L. Narr ◽  
Tyrone D. Cannont ◽  
...  
Keyword(s):  
Surface Morphology ◽  
Gray Matter ◽  
Normal Development ◽  
Cortical Surface ◽  
Brain Growth ◽  
Development And Aging

Electron Microscopy of Silicon Deposits in Foliar Idioblasts of Magnolia Grandiflora

1976 ◽  
Vol 34 ◽  
pp. 374-375
Author(s):  
Michael T. Postek
Keyword(s):  
Electron Microscopy ◽  
Water Loss ◽  
Normal Development ◽  
Magnolia Grandiflora ◽  
Plant Body ◽  
Normal Metabolism ◽  
Hydrated Oxide

Silicon occurs naturally in plants in the form of its hydrated oxide (SiO2.nH2O) commonly called silica. Silica has been shown to be a necessary element in the normal development of many plants, playing an array of roles including strengthening, protection, and reduction of water loss. Deposition of silica in various portions of the plant body, especially the leaves, may also be viewed as a way for the plant to dispose of any excess silica taken up beyond that necessary for normal metabolism.Studies of this “opaline” silica have thus far been limited to species of the Cyperaceae and Gramineae known to possess significant quantities of silica. Within the Magnoliaceae, certain “glistening” idioblast cells at the foliar veinlet termini and vein sheaths of Magnolia grandiflora (1) have been suspected to be siliceous in nature.

FT-IR microspectroscopic analysis of diseased white matter brain tissues

1995 ◽  
Vol 53 ◽  
pp. 968-969
Author(s):  
Steven M. Le Vine ◽  
David L. Wetzel
Keyword(s):  
White Matter ◽  
Gray Matter ◽  
Twitcher Mouse ◽  
Grid Pattern ◽  
Marked Contrast ◽  
Spatially Resolved ◽  
Ft Ir ◽  
Ir Microspectroscopy ◽  
Chemical Evidence

In situ FT-IR microspectroscopy has allowed spatially resolved interrogation of different parts of brain tissue. In previous work the spectrrscopic features of normal barin tissue were characterized. The white matter, gray matter and basal ganglia were mapped from appropriate peak area measurements from spectra obtained in a grid pattern. Bands prevalent in white matter were mostly associated with the lipid. These included 2927 and 1469 cm-1 due to CH2 as well as carbonyl at 1740 cm-1. Also 1235 and 1085 cm-1 due to phospholipid and galactocerebroside, respectively (Figs 1and2). Localized chemical changes in the white matter as a result of white matter diseases have been studied. This involved the documentation of localized chemical evidence of demyelination in shiverer mice in which the spectra of white matter lacked the marked contrast between it and gray matter exhibited in the white matter of normal mice (Fig. 3).The twitcher mouse, a model of Krabbe’s desease, was also studied. The purpose in this case was to look for a localized build-up of psychosine in the white matter caused by deficiencies in the enzyme responsible for its breakdown under normal conditions.

Localization of Intracisternal a Particle Antigens in Neoplastic Cells and Preimplantation Mouse Embryos

1980 ◽  
Vol 38 ◽  
pp. 696-697
Author(s):  
Thomas T.F. Huang ◽  
Patricia G. Calarco
Keyword(s):  
Endoplasmic Reticulum ◽  
Normal Development ◽  
Mouse Embryos ◽  
Neoplastic Cells ◽  
Large Numbers ◽  
Preimplantation Mouse Embryos ◽  
Preimplantation Mouse ◽  
Intracisternal A Particle ◽  
Normal Feature

The stage specific appearance of a retravirus, termed the Intracisternal A particle (IAP) is a normal feature of early preimplantation development. To date, all feral and laboratory strains of Mus musculus and even Asian species such as Mus cervicolor and Mus pahari express the particles during the 2-8 cell stages. IAP form by budding into the endoplasmic reticulum and appear singly or as groups of donut-shaped particles within the cisternae (fig. 1). IAP are also produced in large numbers in several neoplastic cells such as certain plasmacytomas and rhabdomyosarcomas. The role of IAP, either in normal development or in neoplastic behavior, is unknown.

Lexical Comprehension in Young Children With Developmental Delays

1994 ◽  
Vol 3 (1) ◽  
pp. 79-88 ◽  
Author(s):  
Theresa A. Kouri
Keyword(s):  
Young Children ◽  
Developmental Delays ◽  
Normal Development ◽  
Clinical Applications ◽  
Group Status ◽  
Novel Object ◽  
Related Information ◽  
Comprehension Skills ◽  
Lexical Items ◽  
Lexical Concepts

Lexical comprehension skills were examined in 20 young children (aged 28–45 months) with developmental delays (DD) and 20 children (aged 19–34 months) with normal development (ND). Each was assigned to either a story-like script condition or a simple ostensive labeling condition in which the names of three novel object and action items were presented over two experimental sessions. During the experimental sessions, receptive knowledge of the lexical items was assessed through a series of target and generalization probes. Results indicated that all children, irrespective of group status, acquired more lexical concepts in the ostensive labeling condition than in the story narrative condition. Overall, both groups acquired more object than action words, although subjects with ND comprehended more action words than subjects with DD. More target than generalization items were also comprehended by both groups. It is concluded that young children’s comprehension of new lexical concepts is facilitated more by a context in which simple ostensive labels accompany the presentation of specific objects and actions than one in which objects and actions are surrounded by thematic and event-related information. Various clinical applications focusing on the lexical training of young children with DD are discussed.

The Old Gray Matter

1974 ◽  
Vol 19 (2) ◽  
pp. 102-103
Author(s):  
CARL GERBER
Keyword(s):  
Gray Matter
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