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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To investigate the pathogenesis of congenital hydrocephalus the brains of HTX rats aged between 16 days and 4 weeks and the brains of normal Wistar rats of the same ages were examined. In the fetal HTX rat brains, the lateral ventricles were symmetrically dilated from 20 days of gestation. The neuroepithelium bordering the ventricles showed thinning with cellular disarrangement and deformity. Similar neuroepithelial abnormalities were also found in the lateral ventricles of the HTX rat brain with no macroscopic signs of hydrocephalus at 20 days of gestation. The neuroepithelium showed flattening of the cells, widening of the intercellular spaces, formation of microvilli on the detached lateral cell surfaces, and frequent macrophage infiltration. On the other hand, the neuroepithelial cells of the third ventricle and the aqueduct were affected less severely or showed no significant abnormalities. Immunohistochemically, most of the neuroepithelium and ependyma of the lateral ventricles were positive for vimentin in both prenatal and postnatal hydrocephalic HTX rats, while a small number or none of those in normal control rats were positive. These morphological changes suggested that preferential involvement of the lateral ventricular neuroepithelium might be closely associated with the pathogenesis of congenital hydrocephalus in HTX rats.
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PMID:Neuroepithelial and ependymal changes in HTX rats with congenital hydrocephalus: an ultrastructural and immunohistochemical study. 958 75

Neural cell adhesion molecules (CAM) play important roles in neural development, neurite outgrowth, axonal guidance, fasciculation and synapse formation. Neuropathological studies of X-linked hydrocephalus (XLH) associated with L1 CAM mutations emphasize marked hypoplasia of the pyramidal tract, agenesis of the corpus callosum and septum pellucidum, and a thin cerebral mantle with hypoplastic white matter, but there are no detailed studies of the cerebral cortex in the literature. We report clinical, neuroimaging, and neuropathological findings in three boys with XLH. All had severe congenital hydrocephalus with marked thinning of the cerebral mantle and severe development disabilities. The brain specimens from the three boys showed both pachygyria and polymicrogyria, hypoplasia of the medullary pyramids, hypoplasia of the corpus callosum, small anterior commissure, hypoplasia and poorly differentiated hippocampi. A small but patent aqueduct was present in all three brains. Despite the extensive cerebral malformations, the cortex in all three brains showed normal-appearing laminar cortical neuronal architecture and absence of gliosis. In XLH, it is likely that the poor developmental outcome of spasticity, contractures and severe mental retardation results from a disturbance of neuronal connectivity, fasciculation, and synapse formation rather than aqueductal stenosis, increased intracranial pressure, or abnormal neuroblast migration.
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PMID:The pachygyria-polymicrogyria spectrum of cortical dysplasia in X-linked hydrocephalus. 992 16

A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.
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PMID:Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome. 1086 3

We have maintained a transgenic mouse model of hydrocephalus created to overproduce the cytokine, transforming growth factor-beta1 (TGF-beta1) in the central nervous system (CNS). The aim of the present study was to estimate the embryonic period when the transgenic mice would develop hydrocephalus, by investigating the chronological developmental changes of the cerebral ventricles. Qualitative analysis of ventricular size was performed on sections cut in the coronal plane of embryos at the 15th (E15) and 18th (E18) embryonic days, and postnatal mice aged 4 days (P4). The presence of the TGF-beta1 transgene was determined by performing polymerase chain reaction (PCR) analysis. We have examined 24 embryos and 14 postnatal mice. By performing PCR analysis, the TGF-beta1 transgene was determined to be present in 16 (42.1%). Five of 16 embryos at E15 carried the transgene, and showed a slight enlargement of the lateral ventricles. Three of 8 embryos at E18 carried the transgene, and had remarkable enlargement of the lateral ventricles. Eight of 14 pups at P4 carried the transgene, and 7 of 8 pups with the transgene developed hydrocephalus. In pups that were positive for the transgene, massive enlargement of the lateral ventricles was observed and there was an associated thinning of the overlying cerebral cortex. These results suggest that congenital hydrocephalus may develop at an important embryonic time period, which coincides with the stage of neural stem cell proliferation and differentiation in the CNS.
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PMID:Chronologic changes of cerebral ventricular size in a transgenic model of hydrocephalus. 1112 34

A new spontaneous mouse mutation named fierce (frc) is deleted for the nuclear receptor Nr2e1 gene (also known as Tlx, mouse homolog of Drosophila tailless). The fierce mutation is genetically and phenotypically similar to Nr2e1 targeted mutations previously studied on segregating genetic backgrounds. However, we have characterized the fierce brain, eye, and behavioural phenotypes on three defined genetic backgrounds (C57BL/6J, 129P3/JEms, and B6129F1). The data revealed many novel and background-dependent phenotypic characteristics. Whereas abnormalities in brain development, hypoplasia of cerebrum and olfactory lobes, were consistent on all three backgrounds, our novel finding of enlarged ventricles in 100% and overt hydrocephalus in up to 30% of fierce mice were unique to the C57BL/6J background. Developmental eye abnormalities were also background-dependent with B6129F1-frc mice having less severe thinning of optic layers and less affected electroretinogram responses. Impaired regression of hyaloid vessels was observed in all backgrounds. Furthermore, retinal vessels were deficient in size and number in 129P3/JEms-frc and B6129F1-frc mice but almost entirely absent in C57BL/6J-frc mice. We present the first standardized behavioural tests conducted on Nr2e1 mutant mice and show that C57BL/6J-frc and B6129F1-frc mice have deficits in sensorimotor assays and are hyperaggressive in both sexes and backgrounds. However, C57BL/6J-frc mice were significantly more aggressive than B6129F1-frc mice. Overall, this extensive characterization of the fierce mutation is essential to its application for the study of behavioural, and brain and eye developmental disorders. In addition, the background-dependent differences revealed will enable the identification of important genetic modifiers.
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PMID:Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent. 1199 45

Pregnant rats were administered a liquid diet containing 5% (w/v) ethanol between gestational days 10 and 21, and the brains of nine offspring were examined at 8 weeks of age. Two ethanol-treated offspring showed obvious hydrocephalus characterized by markedly enlarged lateral ventricles. Most of the other ethanol-treated rats only showed a slight enlargement of the lateral ventricles. An ethanol-treated offspring showed no neuropathological signs of hydrocephalus. Histological observation of the hydrocephalic brains revealed dilation of the lateral ventricles, loosely bundled corpus callosum, hypoplasia of the septum and fimbria, and thinning of the cerebral cortices. There were no differences in the shape of the third ventricle and aqueduct between hydrocephalic and non-hydrocephalic rats. Ectopic cell clusters were found on the surface of the lateral ventricle and in the interventricular foramen in ethanol-treated rats with hydrocephalus. However, leptomeningeal heterotopias were found on the cortical surface in ethanol-exposed rats independently of whether or not they showed hydrocephalus. Thus, heterotopias within the ventricles may be related to the genesis of hydrocephalus following prenatal ethanol exposure. However, whether they could be a direct cause of the hydrocephalus is uncertain as they seem to be not enough large to block the current of the cerebrospinal fluid. We also examined the expression of L1, a cell adhesion molecule suspected of involvement in the genesis of hydrocephalus after prenatal ethanol exposure, in 1-day-old rats. Western blot analysis using specific antibody against L1 showed no significant change in L1 protein expression in ethanol-exposed rats. These data suggest that L1 protein expression is not affected by ethanol.
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PMID:Hydrocephalus following prenatal exposure to ethanol. 1536 20

Children with spina bifida meningomyelocele and hydrocephalus (SBM) have congenital dysmorphology of the midbrain and thinning of the posterior cortex, brain regions associated with the control of covert orienting. We studied cued covert orienting in 92 children with SBM, and 40 age-matched typically developing controls. Cues were of three types: exogenous (luminance change in a peripheral box either valid or invalid for upcoming target location), endogenous arrow (a central arrow either valid or invalid for upcoming target location), or endogenous word (a central word either valid or invalid for upcoming target location). Compared to controls, children with SBM showed slowed covert orienting to both exogenous and endogenous cues and a higher cost of attentional disengagement (e.g., a greater cue-validity effect) for exogenous although not for endogenous cues. Covert orienting deficits were associated with midbrain dysmorphology in the form of beaking of the tectum, and with right posterior brain volume loss.
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PMID:Covert orienting to exogenous and endogenous cues in children with spina bifida. 1571 68

CDO is a cell surface immunoglobulin superfamily member that positively regulates myogenic differentiation in vitro and in vivo and signals to posttranslationally activate myogenic basic helix-loop-helix (bHLH) transcription factors. The Cdo gene is also expressed in the dorsal aspect and midline structures of the developing central nervous system, and mice lacking CDO on the C57BL/6 background display holoprosencephaly with approximately 80% penetrance, resulting in perinatal lethality. We report here that a fraction of Cdo-/- mice from this background have additional defects in brain development, including hydrocephalus and cortical thinning. Primary neural progenitor cultures from E14.5 Cdo-/- mutants display reduced proliferation, which may underlie the thinning. The cortical preplate and cortices of mutant animals also show reduced staining for beta-tubulin III, indicating defective neuronal differentiation. CDO levels are strongly increased in cultured C17.2 neuronal precursor cells stimulated to differentiate; modulation of CDO levels in these cells by overexpression or interfering RNA approaches enhances or diminishes differentiation, respectively. Cotransfection of CDO enhances the activity of the neurogenic bHLH factor, neurogenin1, in reporter assays and enhances heterodimerization of neurogenin1 and E47. These results indicate that CDO promotes neuronal differentiation and support the hypothesis that CDO coordinates differentiation of multiple cell lineages by regulating the activity of tissue-specific bHLH factors.
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PMID:Cortical thinning and hydrocephalus in mice lacking the immunoglobulin superfamily member CDO. 1664 72

A functional disconnection of the corpus callosum (CC) can induce a form of spatial neglect where each hand (e.g., left) when attempting to bisect lines in the opposite (e.g., right) hemispace deviates toward its own (e.g., left) hemispace. Patients with hydrocephalus often show thinning of the CC but callosal neglect has not been reported in this condition. Two right-handed patients with hydrocephalus and thinning of the CC, as well as six matched controls, were assessed for neglect by performing the line bisection task in left, right and center space with their right and left hands. When compared to controls neither patient, using either their right or left hands, demonstrated a bias in the center or left space conditions, but with lines in right space both subjects' left hand deviated significantly to the left. Thus, patients with hydrocephalic interhemispheric functional disconnection might show a form of callosal neglect. This hemispatial-hand asymmetry of deviation, however, also might be related to the disinhibition of the attentionally dominant right hemisphere.
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PMID:Callosal neglect in hydrocephalus. 1718 98

A variety of developmental brain anomalies have been described in individuals with fetal hydrocephalus, regardless of etiology. Examples include callosal dysgenesis, periventricular gray matter heterotopia, hippocampal and white matter hypoplasia, and cortical polygyration. The present report draws attention to another anomaly not reported in previous case series of fetal hydrocephalus: focal cerebral mantle disruption. Neonatal imaging findings (where available) and post-shunt, stable-state magnetic resonance imaging, or pathological findings were reviewed in 77 subjects with fetal hydrocephalus (55 myelomeningocele, 16 sporadic aqueductal stenosis, 6 miscellaneous). Of these, 12 subjects (15.6%) demonstrated a combination of absence of the septum pellucidum and severe thinning or absence of the posteromesial cerebral mantle. On axial sequences, this combination created the illusion of a common ventricle, as in lobar holoprosencephaly. All 12 subjects had massive hydrocephalus at birth, accompanied in 7 by posteromesial ventricular diverticula. Two subjects, and one other subject with distinct lateral ventricles, demonstrated unilateral or bilateral mantle clefts suggestive of schizencephaly. Close radiological (n = 2) or pathological (n = 1) inspection showed that the clefts were only partially lined with gray matter and contained a transverse gliotic membrane. These findings are consistent with the hypothesis that massive early fetal hydrocephalus may completely disrupt cerebral mantle formation, particularly in the posteromesial hemispheres.
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PMID:Focal cerebral mantle disruption in fetal hydrocephalus. 1743 6


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