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Cerebral hypermetabolism produced by intraventricular endothelin-1 in rats: inhibition by nimodipine.

Injection of endothelin-1 (9 pmol) into the lateral cerebral ventricle of rats produced barrel-rotations, convulsions, tonic hindlimb extens … njection were caudate nucleus (+164%), lateral septal nucleus (+270%), and two white matter tracts--corpus callosum (+236%) and hippocampal fimbria (+318%). Distant stimulated structures included cerebellar cortical layers, but not cerebellar nuclei or white matter. Increased rates of glucose metabolism among many other nuclei, particularly distinct subunits of t …

Congenital brain anomalies associated with the hypoplastic left heart syndrome.

This study details the type, frequency, and clinical presentation of developmental brain anomalies in 41 infants with the hypoplastic left heart syndrome encountered during a 52-month interval. Overall, 29% of the infants had either a major or minor central nervous system abnormality. Overt central nervous system malformations, including 3 cases of agenesis of the corpus callosum and 1 case of holoprosencephaly, were seen in 4 infants (10%). Micrencephaly (brain weight at autopsy more than 2 SDs below the mean for age) was found in 27% of the infants. An immature cortical mantle was seen in 21…

Neuroimmune Links to White-matter Microstructure in Medication-naïve Children with Tic Disorder: A Mediation Analysis.

OBJECTIVE: To determine whether newly diagnosed pediatric tic disorder is associated with white-matter microstructural alterations on diffus … ysis. RESULTS: Patients showed lower FA and higher MD and RD across multiple tracts, including the corpus callosum, corticospinal tract, inferior longitudinal fasciculus (ILF), and inferior fronto-occipital fasciculus (IFOF). Elevated RD in the left ILF correlated with greater tic severity (ρ = 0.61, p = 0.004). Cytokine-DTI associations were region-specific: hi …

Does bilingualism buffer genetic predispositions to reading difficulties through alterations of structural interhemispheric connectivity? An ABCD® Study.

Here, we test the hypothesis that early sustained exposure to complex bilingual environments can positively affect reading development by altering structural interhemispheric connectivity via the corpus callosum (CC). Interhemispheric connectivity has been shown to be inefficient in dyslexia, but also to support compensatory pathways when genetic risk for reading difficulties is present, by enabling the preserved right hemisphere to support a dysfunctional left hemisphere. Mediation models were conducted on children aged 9-10 years (with a 2-year follow-up assessment) from the Adolescent Brain…

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families.

TUBB2B encodes a β-tubulin isotype essential for neuronal proliferation, migration, and organization during brain development. Pathogenic heterozygous variants in TUBB2B are associated with neurodevelopmental disorders including polymicrogyria and corpus callosum abnormalities. However, the phenotypic spectrum remains heterogeneous, most likely reflecting variant-specific effects on microtubule formation and stability. Homozygous TUBB2B variants are exceedingly rare, with one family reported to date. We describe five individuals in four families with rare TUBB2B variants. Four variants are des…

DDX3X Syndrome: Clinical, Neuroimaging, AI-Assisted Facial Profiling and Genotype-Phenotype Correlations.

Background/Objectives: DDX3X syndrome (MIM#300958) is a neurodevelopmental disorder associated with intellectual disability, language impair … sleep disturbances and aggressive behavior. Neuroimaging revealed ventricular dilatation (5/9) and corpus callosum hypoplasia (3/9). Loss-of-function variants were associated with greater clinical severity. Conclusions: This series suggests a recognizable facial phenotype of DDX3X syndrome and supports a possible genotype-phenotype correlation. Further studies a …

Premature and early menopause and neuroimaging biomarkers of neurodegenerative diseases: a systematic review.

BACKGROUND: Premature and early menopause involve ovarian hormone deprivation, which may contribute to later-life vulnerability to cognitive … basal forebrain regions; white-matter microstructural abnormalities in the anterior corona radiata, corpus callosum, and fronto-occipital tracts; and reduced posterior hippocampal activation during memory encoding. In one study, earlier age at menopause was associated with higher amyloid-β (Aβ) burden in women who underwent premenopausal bilateral oophorectomy (P …

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

BACKGROUND: The purpose of this research is to study the neurological consequences of infantile vitamin B12 deficiency on the developing bra … of < -2 Z score. At baseline, the MRI of the brain was abnormal in 137 (97.2%), showing thinning of corpus callosum (n = 133, 94.3%), cerebral cortical atrophy (n = 128, 90.8%), cerebellar atrophy (n = 126, 89.4%), atrophy of midbrain (n = 81, 57.4%) and pons (n = 78, 55.3%). A follow-up MRI done in 98 (69.5%) showed 66 (67%) had one or more residual abnormalitie …

Multimodal characterization of age-dependent neurovascular phenotypes in Notch3R170C CADASIL mice by ultra-high-field MRI and histological analyses.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small vessel disease ca … istological analyses showed age-dependent changes in vascular and glial markers, together with mild corpus callosum vacuolation at 16 months, whereas neuronal and oligodendrocyte-associated alterations were comparatively limited. Single-cell transcriptomic analysis revealed subtle but coordinated cell type-specific transcriptional profiles, particularly in vascul …

Clinical characteristics of autoimmune glial fibrillary acidic protein astrocytopathy in adults: a retrospective analysis of 9 cases.

BACKGROUND: To identify early diagnostic clues, we analysed cerebrospinal fluid and serum biomarkers in patients with autoimmune glial fibri … the subcortical white matter, basal ganglia, occipital lobe, brain stem, ventricles, cerebellum and corpus callosum. Each patient achieved a modified Rankin Scale score of 0-2, and no recurrence was observed during the 6-month follow-up period. CONCLUSION: Differentiating GFAP-A from anti-N-methyl-D-aspartate receptor encephalitis based on conventional inflammat …

Neural compensation preserves white matter integrity in early Parkinson's disease but not atypical Parkinsonism: a diffusion tensor imaging study.

Parkinsonism is a common clinical manifestation of Parkinson's disease (PD) and other atypical parkinsonism (AP). Diffusion tensor imaging ( … nd apparent diffusion coefficient (ADC) values were measured in the pons, corona radiata, cingulum, corpus callosum, caudate nucleus, thalamus and substantia nigra. Significant group differences in FA were observed in the bilateral pons, right caudate nucleus and left thalamus (P < 0.05). Significant group differences in ADC were found in the left pons, bilateral …

Detecting early brain susceptibility changes before demyelination in cuprizone mouse model using quantitative susceptibility mapping (QSM).

Multiple sclerosis (MS) is a neurological disease that affects the central nervous system through demyelination and inflammation. Animal mod … on, acute demyelination, chronic demyelination, and remyelination. Regional analyses focused on the corpus callosum (CC) and anterior commissure (AC), complemented by histological validation. All three MRI modalities detected demyelination, characterized by increased T2 signal, decreased magnetization transfer ratio (MTR), and increased susceptibility, with parti …

Diabetic ketoacidosis and cerebral edema: a rare case of infarct-like MRI findings in a pediatric patient.

INTRODUCTION AND IMPORTANCE: Diabetic ketoacidosis (DKA) is a serious and potentially life-threatening complication of type 1 diabetes melli … cal deterioration consistent with CE. Brain MRI revealed restricted diffusion in the basal ganglia, corpus callosum, and internal capsule - findings suggestive of infarction rather than typical vasogenic edema. CLINICAL DISCUSSION: This case highlights the diagnostic and therapeutic challenges posed by DKA-associated CE with atypical imaging findings. The observ …

The Occurrence of Supernumerary Umbilical Cord Vessels: A Review for Practicing Clinicians.

Background: The umbilical cord normally contains two arteries and one vein. The presence of supernumerary-four or five-umbilical cord vessel … r, two were associated with hydrops, urinary, gastrointestinal, and skeletal disorders, hypoplastic corpus callosum, and dysmorphic facial features. Conclusions: Four-vessel umbilical cords are more frequent than previously thought, as they can be easily overlooked during the mandatory ultrasound examination. A review of the literature revealed a correlation betw …

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Pathogenic variants in EPG5 have been associated with Vici syndrome (OMIM #242840) characterized by agenesis of the corpus callosum (ACC), cataracts, cardiomyopathy, hypopigmentation, and immunodeficiency as hallmark features. Additional variable features include microcephaly, hypotonia, developmental delay, and growth retardation. Recently, few reports described milder cases with a neurodevelopmental phenotype and less systemic involvement harboring EPG5 variants suggesting a broader clinical spectrum. Herein, we describe seven patients from six unrelated Egyptian families in whom exome seque…

Management of a congenital arachnoid cyst in a newborn with obstructive hydrocephalus: A multistage surgical approach and neurodevelopmental outcome.

BACKGROUND: Arachnoid cysts (ACs) are cerebrospinal fluid-filled lesions of uncertain etiology, occasionally associated with other congenita … a full-term male newborn prenatally diagnosed with a large left frontoparietal AC, agenesis of the corpus callosum, and suspected schizencephalic changes. Postnatal imaging confirmed cyst-induced obstructive hydrocephalus. An initial endoscopic cystoventriculostomy was performed at 13 days of life, but neuroimaging showed persistent cyst growth and ventricular d …

Положительная аллостерическая модуляция рецепторов АМПА с помощью PF4778574 приводит к снижению степени демиэлизации и клинической инвалидности в экспериментальных моделях множественного склероза.

ВВЕДЕНИЕ: Множественный склероз (МС) — расстройство центральной нервной системы (КНС), характеризующееся воспалением, обезвоживанием и нейронным дегенерацией. Несмотря на достижения в области иммуномодуляционного лечения, нейрозащитные или восстановительные стратегии по-прежнему являются неадекватными. Наши исследования сосредоточены на потенциале позитивного аллостерического модулятора рецепторов AMPA (AMPA-PAM), PF4778574, в борьбе с симптомами MS. Мы использовали MOG35-55 Продуктированная экспериментальная аутоиммунная энцефаломиелитная модель (EAE) в мышах C57BL6J для изучения терапевтичес

Совпадение в аннотации оригинала
INTRODUCTION: Multiple Sclerosis (MS), a debilitating central nervous system (CNS) disorder, is characterized by inflammation, demyelination … e it did not diminish microglial activity, it reduced demyelinated areas in optic nerves and in the corpus callosum. Both PF4778574 and fingolimod significantly enhanced clinical EAE scores and decreased demyelination. However, their combination did not yield additional benefits. In the cuprizone model, PF4778574 increased oligodendrocyte precursor and mature mye …

High incidence of cerebrovascular lesions on magnetic resonance imaging in pediatric COVID-19 during omicron outbreak - A retrospective case series.

BACKGROUND: The incidence of pediatric hospitalizations has significantly increased since the spread of the omicron variant of COVID-19. Cha … ffuse cortical T2/DWI hyperintensity, and lesions in the medulla, pons, cerebellum, and splenium of corpus callosum. Vascular abnormalities were seen in 12 (80%) patients with MRI abnormalities, mainly affecting the middle cerebral arteries. The spectrum of neurological manifestations ranged from seizures to Alice in Wonderland syndrome, underscoring the diverse …

White Matter Microstructure Alteration in Patients with Drug-Induced Parkinsonism: A Diffusion Tensor Imaging Study with Tract-Based Spatial Statistics.

INTRODUCTION: This research aimed to investigate the pathophysiological mechanism of how drug-induced parkinsonism (DIP) affects the integri … n those in PD patients group. Compared with the NC group, the FA values in the genu and body of the corpus callosum (CC), anterior limb of the right internal capsule, bilateral anterior corona radiata, bilateral superior corona radiata, right external capsule, and right superior fronto-occipital fasciculus (could be a part of the anterior internal capsule) were s …

Based on white matter microstructure to early identify bipolar disorder from patients with depressive episode.

OBJECTIVE: Because of similar clinical manifestations, bipolar disorder (BD) patients are often misdiagnosed as major depressive disorder (M … cipital fasciculus (IFOF.R). The tBD showed more extensive abnormalities than the UD in the body of corpus callosum, fornix, left superior corona radiata, left posterior corona radiata, left superior longitudinal fasciculus, and left superior fronto-occipital fasciculus. CONCLUSION: The study demonstrated the common and distinct abnormalities of tBD and UD when …