scholarly journals Regional Alterations in Cortical Sulcal Depth in Living Fetuses with Down Syndrome

2020 ◽  
Author(s):  
Hyuk Jin Yun ◽  
Juan David Ruiz Perez ◽  
Patricia Sosa ◽  
J Alejandro Valdés ◽  
Neel Madan ◽  
...  

Abstract Down syndrome (DS) is the most common genetic cause of developmental disabilities. Advanced analysis of brain magnetic resonance imaging (MRI) has been used to find brain abnormalities and their relationship to neurocognitive impairments in children and adolescents with DS. Because genetic factors affect brain development in early fetal life, there is a growing interest in analyzing brains from living fetuses with DS. In this study, we investigated regional sulcal folding depth as well as global cortical gyrification from fetal brain MRIs. Nine fetuses with DS (29.1 ± 4.24 gestational weeks [mean ± standard deviation]) were compared with 17 typically developing [TD] fetuses (28.4 ± 3.44). Fetuses with DS showed lower whole-brain average sulcal depths and gyrification index than TD fetuses. Significant decreases in sulcal depth were found in bilateral Sylvian fissures and right central and parieto-occipital sulci. On the other hand, significantly increased sulcal depth was shown in the left superior temporal sulcus, which is related to atypical hemispheric asymmetry of cortical folding. Moreover, these group differences increased as gestation progressed. This study demonstrates that regional sulcal depth is a sensitive marker for detecting alterations of cortical development in DS during fetal life, which may be associated with later neurocognitive impairment.

2018 ◽  
Vol 29 (8) ◽  
pp. 3605-3616 ◽  
Author(s):  
Cynthia M Ortinau ◽  
Caitlin K Rollins ◽  
Ali Gholipour ◽  
Hyuk Jin Yun ◽  
Mackenzie Marshall ◽  
...  

Abstract Fetuses with congenital heart disease (CHD) have third trimester alterations in cortical development on brain magnetic resonance imaging (MRI). However, the intersulcal relationships contributing to global sulcal pattern remain unknown. This study applied a novel method for examining the geometric and topological relationships between sulci to fetal brain MRIs from 21–30 gestational weeks in CHD fetuses (n = 19) and typically developing (TD) fetuses (n = 17). Sulcal pattern similarity index (SI) to template fetal brain MRIs was determined for the position, area, and depth for corresponding sulcal basins and intersulcal relationships for each subject. CHD fetuses demonstrated altered global sulcal patterns in the left hemisphere compared with TD fetuses (TD [SI, mean ± SD]: 0.822 ± 0.023, CHD: 0.795 ± 0.030, P = 0.002). These differences were present in the earliest emerging sulci and were driven by differences in the position of corresponding sulcal basins (TD: 0.897 ± 0.024, CHD: 0.878 ± 0.019, P = 0.006) and intersulcal relationships (TD: 0.876 ± 0.031, CHD: 0.857 ± 0.018, P = 0.033). No differences in cortical gyrification index, mean curvature, or surface area were present. These data suggest our methods may be more sensitive than traditional measures for evaluating cortical developmental alterations early in gestation.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xiaoyu Wang ◽  
Julien Lefèvre ◽  
Amine Bohi ◽  
Mariam Al Harrach ◽  
Mickael Dinomais ◽  
...  

AbstractAbnormal cortical folding patterns, such as lissencephaly, pachygyria and polymicrogyria malformations, may be related to neurodevelopmental disorders. In this context, computational modeling is a powerful tool to provide a better understanding of the early brain folding process. Recent studies based on biomechanical modeling have shown that mechanical forces play a crucial role in the formation of cortical convolutions. However, the effect of biophysical parameters in these models remain unclear. In this paper, we investigate the effect of the cortical growth, the initial geometry and the initial cortical thickness on folding patterns. In addition, we not only use several descriptors of the folds such as the dimensionless mean curvature, the surface-based three-dimensional gyrification index and the sulcal depth, but also propose a new metric to quantify the folds orientation. The results demonstrate that the cortical growth mode does almost not affect the complexity degree of surface morphology; the variation in the initial geometry changes the folds orientation and depth, and in particular, the slenderer the shape is, the more folds along its longest axis could be seen and the deeper the sulci become. Moreover, the thinner the initial cortical thickness is, the higher the spatial frequency of the folds is, but the shallower the sulci become, which is in agreement with the previously reported effects of cortical thickness.


2020 ◽  
Vol 3 (1) ◽  
pp. 54-59
Author(s):  
Nargiza Ergasheva ◽  
◽  
Sardor Anorboev ◽  
Gavkhar Kendjaeva ◽  

Cerebral palsy (CP) is a disorder characterized by abnormal tone, posture and movement. The incidence of CP is 2–4 per 1,000 live births in the world. Prematurityand low birth weight are important risk factors for CP; however, multiple other factors have been associated with an increased risk for CP, including maternal infections and diseases, and abnormal birth process. In most cases of CP the initial injury to the brain occurs during early fetal brain development, later a brain area that is injured cannot function properly in the future. CP is classified clinically based on the predominant motor syndrome—spastic hemiplegia, spastic diplegia, spastic quadriplegia, ataxic and dyskinetic cerebral palsies. The diagnosis of CPis based on a combination of clinical history, use of standardized neuromotor assessment and findings on magnetic resonance imaging (MRI). If there is a suspicionof genetic or inborn metabolic disorders, screening tests should be provided additionally. Because CP is associated with multiple associated and secondary medical conditions, its management requires a multidisciplinary team approach


2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.


2014 ◽  
Vol 125 (3) ◽  
pp. 237-240 ◽  
Author(s):  
Vladimir Banović ◽  
Snježana Škrablin ◽  
Maja Banović ◽  
Marko Radoš ◽  
Snježana Gverić-Ahmetašević ◽  
...  

2017 ◽  
Vol 24 (6) ◽  
pp. 805-810 ◽  
Author(s):  
Zoé LE van Kempen ◽  
Cyra E Leurs ◽  
Birgit I Witte ◽  
Annick de Vries ◽  
Mike P Wattjes ◽  
...  

Background: Natalizumab is efficacious in the treatment of relapsing-remitting multiple sclerosis. All patients receive the same treatment regimen of 300 mg every 4 weeks, despite differences in pharmacokinetics between individual patients. Objective: To give neurologists insight into natalizumab concentrations at time of re-dosing, we investigated longitudinal natalizumab concentrations in 80 patients in relation to disease activity, with possible influencing factors. Methods: In a prospective observational cohort study, natalizumab trough serum concentrations were measured in 80 patients. Data on demographics, duration of treatment, Expanded Disability Status Scale, clinical exacerbations, brain magnetic resonance imaging (MRI), and body weight were collected. Results: We measured high (≥10 µg/mL) natalizumab trough concentrations in 94% of patients. Intra-individual concentrations were stable. The spread in concentrations was substantial and did not correlate with disease activity. We found a negative association between natalizumab concentration and body weight (β = −0.30, p = 0.010). Interpretation: The majority of patients showed high natalizumab serum concentrations at time of re-dosing. Alternative treatment regimens could lead to more efficient use of natalizumab, but caution is warranted regarding the possibility of recurrence of disease activity. Prospective clinical trials are needed to establish the safety of extended dose intervals in natalizumab treatment.


Author(s):  
Neelu Desai ◽  
Rahul Badheka ◽  
Nitin Shah ◽  
Vrajesh Udani

AbstractReversible cerebral vasoconstriction syndrome (RCVS) has been well described in adults, but pediatric cases are yet under recognized. We describe two children with RCVS and review similar already published pediatric cases. The first patient was a 10-year-old girl who presented with severe headaches and seizures 3 days after blood transfusion. Brain magnetic resonance imaging (MRI) showed changes compatible with posterior reversible encephalopathy syndrome and subarachnoid hemorrhage. Magnetic resonance angiogram showed diffuse vasoconstriction of multiple cerebral arteries. The second patient was a 9-year-old boy who presented with severe thunderclap headaches. Brain MRI showed isolated intraventricular hemorrhage. Computed tomography/MR angiogram and digital subtraction angiogram were normal. A week later, he developed focal neurological deficits. Repeated MR angiogram showed diffuse vasospasm of multiple intracranial arteries. Both children recovered completely. A clinico-radiological review of previously reported childhood RCVS is provided.


2018 ◽  
Vol 25 (4) ◽  
pp. 618-621 ◽  
Author(s):  
Emilie Panicucci ◽  
Mikael Cohen ◽  
Veronique Bourg ◽  
Fanny Rocher ◽  
Pierre Thomas ◽  
...  

Background: Dalfampridine extended release (DAL) is a broad-spectrum voltage-gated potassium channel blocker that is indicated in multiple sclerosis to improve the nerve conduction of demyelinated axons. Seizures are a known side effect of DAL, which is contraindicated in patients with a history of epilepsy. Objective: Three cases of multiple sclerosis (MS) with de novo convulsive status epilepticus (CSE) probably related to dalfampridine administration are described. Methods: No patients had a history of seizures or renal impairment. Biological tests were normal. A brain magnetic resonance imaging (MRI) showed diffuse cortical and subcortical atrophy without active inflammatory lesions. Results: All three patients presented with CSE that was attributed to DAL and so was discontinued. Conclusion: These case reports illustrate that, aside from seizures, de novo CSE is a potential complication of MS patients treated with DAL.


2018 ◽  
Vol 33 (11) ◽  
pp. 713-717 ◽  
Author(s):  
Afnan AlGhamdi ◽  
Muhammad Talal Alrifai ◽  
Abdullah I. Al Hammad ◽  
Fuad Al Mutairi ◽  
Abdulrahman Alswaid ◽  
...  

Propionic acidemia is an inborn error of metabolism that is inherited in an autosomal recessive manner. It is characterized by a deficient propionyl-CoA carboxylase due to mutations in either of its beta or alpha subunits. In the literature, there is a clear association between propionic acidemia and epilepsy. In this cohort, we retrospectively reviewed the data of 14 propionic acidemia patients in Saudi Arabia and compared the findings to those of former studies. Six of the 14 (43%) patients developed epileptic seizure, mainly focal seizures. All patients were responsive to conventional antiepileptic drugs as their seizures are controlled. The predominant electroencephalographic (EEG) findings were diffuse slowing in 43% and multifocal epileptiform discharges in 14% of the patients. In 1 patient, burst suppression pattern was detected, a pattern never before reported in patients with propionic acidemia. Brain magnetic resonance imaging (MRI) findings mainly consisted of signal changes of the basal ganglia (36%), generalized brain atrophy (43%), and delayed myelination (43%).The most common genotype in our series is the homozygous missense mutation in the PCCA gene (c.425G>A; p. Gly142Asp). However, there is no clear genotype–seizure correlation. We conclude that seizure is not an uncommon finding in patients with propionic acidemia and not difficult to control. Additional studies are needed to further elaborate on genotype–seizure correlation.


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