This page shows you your search results in order of date. This is page number 7.

Order by Relevance | Date

Total 442 results found since Jan 2013.

High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection
Conclusion This study is the first to demonstrate the incidence of hippocampal abnormality to be significantly higher in congenital CMV infection patients than in age-matched controls. Further study is necessary to clarify the associations of HIMAL with other clinical and developmental features. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: Neuropediatrics - January 28, 2022 Category: Neurology Authors: Natsume, Takenori Inaba, Yuji Osawa, Yoshihiro Fukuyama, Tetsuhiro Tags: Original Article Source Type: research

IJERPH, Vol. 19, Pages 1224: Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study
We report the neuroradiological, molecular, neuropsychological and behavioral characterization of a 5-year-old girl, with cerebellar agenesis associated with parietal and peri-Sylvian polymicrogyria, followed-up for 10 years at four time points. Whole exome sequencing identified two rare variants in CSMD1, a gene associated with neurocognitive and psychiatric alterations. Mild intellectual impairment, cerebellar ataxia and deficits in language, memory and executive functions, with relatively preserved adaptive and psychopathological domains, were initially showed. Phonological awareness and verbal memory declined at 11 yea...
Source: International Journal of Environmental Research and Public Health - January 22, 2022 Category: Environmental Health Authors: Floriana Costanzo Ginevra Zanni Elisa Fuc à Margherita Di Paola Sabina Barresi Lorena Travaglini Giovanna Stefania Colafati Antonio Gambardella Emanuele Bellacchio Enrico Bertini Deny Menghini Stefano Vicari Tags: Article Source Type: research

Neurological manifestation of 22q11.2 deletion syndrome
This article reviews the different neurological manifestations of 22q11.2 deletion syndrome. The syndrome is associated with neurological disorders such as epilepsy and movement disorders. Patients with 22q11.2 DS have an increased incidence of provoked and unprovoked seizures. Provoked seizures include, amongst others, seizures due to hypocalcemia, surgery, perioperative hypoxia, antipsychotic medication, and fever. Both focal seizures, myoclonus and generalized tonic –clonic seizures occur in 22q11.2 DS. Generalized epilepsy occurs more often than in the background population. Furthermore, 22q11.2 DS is associated with...
Source: Neurological Sciences - January 18, 2022 Category: Neurology Source Type: research

Severe Fetal Symptomatic Infection from Human Cytomegalovirus following Nonprimary Maternal Infection: Report of Two Cases
Conclusion: The impact of nonprimary maternal infection on pregnancy outcome is unknown and fetal brain damage in HCMV seroimmune transmitter-mothers can occur as a consequence of maternal reinfection or reactivation for a hypotetic different role of HCMV-primed CD4+ or CD8+ T-cells in fetal brain, with progressive brain lesions coexistent in the first case and with severe unexpected anemia in the second case. A previous maternal HCMV immunity should not exempt to test anemic fetuses for such infection, nor to consider a potential transplacental transmission.
Source: Fetal Diagnosis and Therapy - December 30, 2021 Category: Perinatology & Neonatology Source Type: research

Severe fetal symptomatic infection from human cytomegalovirus following non-primary maternal infection: report of two cases
Conclusion The impact of non-primary maternal infection on pregnancy outcome is unknown and fetal brain damage in HCMV seroimmune transmitter-mothers can occur as a consequence of maternal re-infection or reactiva tion for a hypotetic different role of HCMV-primed CD4+ or CD8+ T-cells in fetal brain, with progressive brain lesions coexistent in the first case and with severe unexpected anemia in the second case. A previous maternal HCMV immunity should not exempt to test anemic fetuses for such infection, nor to consider a potential transplacental transmission.
Source: Fetal Diagnosis and Therapy - December 30, 2021 Category: Perinatology & Neonatology Source Type: research

Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei
No abstract available
Source: Clinical Dysmorphology - December 10, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

Expression analyses of Rac3, a Rho family small GTPase, during mouse brain development
In this study, we carried out expression analyses of Rac3 with mouse brain tissues. In immunoblotting, Rac3 exhibited a tissue-dependent expression profile in the young adult mouse and was expressed in a developmental stage-dependent manner in brain. In primary cultured hippocampal neurons, while Rac3 was distributed mainly in the cytoplasm, it was visualized in axon and dendrites with partial localization at synapses, in consistent with the observation in biochemical fractionation analyses. In immunofluorescence analyses with brain slices, Rac3 was distributed strongly and moderately in the axon and cytoplasm, respectivel...
Source: Developmental Neuroscience - November 26, 2021 Category: Neuroscience Source Type: research

Heterotopia in Individuals with 22q11.2 Deletion Syndrome PEDIATRICS
CONCLUSIONS: Taken together, our findings, periventricular nodular heterotopia or heterotopia in the white matter (possibly related to interrupted Arc cells migration), persistent cavum septi pellucidi and/or vergae, and formation of periventricular cysts, give clues to the brain development disorder induced by the 22q11.2 deletion syndrome. There was no evidence that these morphologic findings were associated with differences in psychiatric or cognitive presentation of the 22q11.2 deletion syndrome.
Source: American Journal of Neuroradiology - November 11, 2021 Category: Radiology Authors: Neuhaus, E., Hattingen, E., Breuer, S., Steidl, E., Polomac, N., Rosenow, F., Rüber, T., Herrmann, E., Ecker, C., Kushan, L., Lin, A., Vajdi, A., Bearden, C. E., Jurcoane, A. Tags: PEDIATRICS Source Type: research

Polymicrogyria in a child with KCNMA1-related channelopathy
Polymicrogyria is a malformation of cortical development with overfolding of the cerebral cortex and abnormal cortical layering. Polymicrogyria constitutes a heterogenous collection of neuroimaging features, neuropathological findings, and clinical associations, and is due to multiple underlying etiologies. In the last few years, some glutamate and sodium channelopathies have been associated with cortical brain malformations such as polymicrogyria. The potassium calcium-activated channel subfamily M alpha 1 (KCNMA1) gene encodes each of the four alpha-subunits that make up the large conductance calcium and voltage-activate...
Source: Brain and Development - October 18, 2021 Category: Neurology Authors: Denis Graber, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Satoko Miyatake, Marianne Graber, Bertrand Isidor Tags: Case Report Source Type: research

Posterior Quadrant Disconnection for Childhood Onset Sub-Hemispheric Posterior Head Region Epilepsy: Indications in an Indian Cohort and Outcome
Conclusions: Gliosis was more common etiology requiring PQD in our series than Western series, where FCD was more common. PQD is a safe and effective surgical modality in childhood-onset epilepsy with posterior head region epileptogenic focus.Pediatr Neurosurg
Source: Pediatric Neurosurgery - October 14, 2021 Category: Neurosurgery Source Type: research

Effects of RTTN gene mutations and the need for complementary cDNA analysis for some transcripts: case report
This article presents the multidisciplinary approach followed in prenatal as well as postnatal period. It also highlights the importance of gene expression analysis in prenatal genetics.
Source: QJM - October 1, 2021 Category: Internal Medicine Source Type: research

The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes PEDIATRICS
CONCLUSIONS: Fetal head size and extracranial prenatal sonographic findings can refine the phenotype and facilitate genetic diagnosis when ganglionic eminence abnormality is diagnosed with MR imaging.
Source: American Journal of Neuroradiology - August 11, 2021 Category: Radiology Authors: Goergen, S. K., Alibrahim, E., Christie, J., Dobrotwir, A., Fahey, M., Fender, L., Frawley, K., Manikkam, S. A., Pinner, J. R., Sinnott, S., Romaniello, R., Sandaradura, S. A., Taylor, J., Vasudevan, A., Righini, A. Tags: PEDIATRICS Source Type: research

Congenital CMV infection presenting with massive intracerebral hemorrhage
CONCLUSION: Catastrophic intracerebral hemorrhage has not been previously reported in association with congenital CMV infection. The present case expands the range of potential injuries to the developing brain in congenital CMV infection and raises the possibility of a direct vascular injury.PMID:34308832 | DOI:10.5414/NP301341
Source: Clinical Neuropathology - July 26, 2021 Category: Pathology Authors: Barbra de Vrijer Diana Crowley Delaney Cosma Giulio Muscedere Robert Hammond Source Type: research