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1.
eNeuro ; 11(5)2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38719452

RESUMO

The corpus callosum is composed of several subregions, distinct in cellular and functional organization. This organization scheme may render these subregions differentially vulnerable to the aging process. Callosal integrity may be further compromised by cardiovascular risk factors, which negatively influence white matter health. Here, we test for heterochronicity of aging, hypothesizing an anteroposterior gradient of vulnerability to aging that may be altered by the effects of cardiovascular health. In 174 healthy adults across the adult lifespan (mean age = 53.56 ± 18.90; range, 20-94 years old, 58.62% women), pulse pressure (calculated as participant's systolic minus diastolic blood pressure) was assessed to determine cardiovascular risk. A deterministic tractography approach via diffusion-weighted imaging was utilized to extract fractional anisotropy (FA), radial diffusivity (RD), and axial diffusivity (AD) from each of five callosal subregions, serving as estimates of microstructural health. General linear models tested the effects of age, hypertension, and pulse pressure on these cross-sectional metrics. We observed no significant effect of hypertensive diagnosis on callosal microstructure. We found a significant main effect of age and an age-pulse pressure interaction whereby older age and elevated pulse pressure were associated with poorer FA, AD, and RD. Age effects revealed nonlinear components and occurred along an anteroposterior gradient of severity in the callosum. This gradient disappeared when pulse pressure was considered. These results indicate that age-related deterioration across the callosum is regionally variable and that pulse pressure, a proxy of arterial stiffness, exacerbates this aging pattern in a large lifespan cohort.


Assuntos
Envelhecimento , Pressão Sanguínea , Corpo Caloso , Humanos , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/fisiologia , Feminino , Pessoa de Meia-Idade , Idoso , Adulto , Masculino , Envelhecimento/fisiologia , Envelhecimento/patologia , Idoso de 80 Anos ou mais , Adulto Jovem , Pressão Sanguínea/fisiologia , Imagem de Tensor de Difusão , Hipertensão/fisiopatologia , Hipertensão/patologia , Estudos Transversais , Imagem de Difusão por Ressonância Magnética
2.
Sci Rep ; 14(1): 11112, 2024 05 15.
Artigo em Inglês | MEDLINE | ID: mdl-38750237

RESUMO

Anorexia nervosa is an often-severe psychiatric illness characterized by significantly low body weight, fear of gaining weight, and distorted body image. Multiple neuroimaging studies have shown abnormalities in cortical morphology, mostly associated with the starvation state. Investigations of white matter, while more limited in number, have suggested global and regional volume reductions, as well as abnormal diffusivity in multiple regions including the corpus callosum. Yet, no study has specifically examined thickness of the corpus callosum, a large white matter tract instrumental in the inter-hemispheric integration of sensory, motor, and cognitive information. We analyzed MRI data from 48 adolescents and adults with anorexia nervosa and 50 healthy controls, all girls/women, to compare corpus callosum thickness and examined relationships with body mass index (BMI), illness duration, and eating disorder symptoms (controlling for BMI). There were no significant group differences in corpus callosum thickness. In the anorexia nervosa group, severity of body shape concerns was significantly, positively correlated with callosal thickness in the rostrum, genu, rostral body, isthmus, and splenium. In addition, there were significant positive correlations between eating disorder-related obsessions and compulsions and thickness of the anterior midbody, rostral body, and splenium. There were no significant associations between callosal thickness and BMI or illness duration. In sum, those with AN with worse concerns about bodily appearance and worse eating disorder-related obsessive thought patterns and compulsive behaviours have regionally thicker corpus callosum, independent of current weight status. These findings provide important neurobiological links to key, specific eating disorder behavioural phenotypes.


Assuntos
Anorexia Nervosa , Corpo Caloso , Imageamento por Ressonância Magnética , Fenótipo , Humanos , Anorexia Nervosa/patologia , Anorexia Nervosa/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Feminino , Adolescente , Adulto , Adulto Jovem , Índice de Massa Corporal , Estudos de Casos e Controles , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
3.
Addict Biol ; 29(5): e13400, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38706091

RESUMO

Substance use disorders are characterized by inhibition deficits related to disrupted connectivity in white matter pathways, leading via interaction to difficulties in resisting substance use. By combining neuroimaging with smartphone-based ecological momentary assessment (EMA), we questioned how biomarkers moderate inhibition deficits to predict use. Thus, we aimed to assess white matter integrity interaction with everyday inhibition deficits and related resting-state network connectivity to identify multi-dimensional predictors of substance use. Thirty-eight patients treated for alcohol, cannabis or tobacco use disorder completed 1 week of EMA to report substance use five times and complete Stroop inhibition testing twice daily. Before EMA tracking, participants underwent resting state functional MRI and diffusion tensor imaging (DTI) scanning. Regression analyses were conducted between mean Stroop performances and whole-brain fractional anisotropy (FA) in white matter. Moderation testing was conducted between mean FA within significant clusters as moderator and the link between momentary Stroop performance and use as outcome. Predictions between FA and resting-state connectivity strength in known inhibition-related networks were assessed using mixed modelling. Higher FA values in the anterior corpus callosum and bilateral anterior corona radiata predicted higher mean Stroop performance during the EMA week and stronger functional connectivity in occipital-frontal-cerebellar regions. Integrity in these regions moderated the link between inhibitory control and substance use, whereby stronger inhibition was predictive of the lowest probability of use for the highest FA values. In conclusion, compromised white matter structural integrity in anterior brain systems appears to underlie impairment in inhibitory control functional networks and compromised ability to refrain from substance use.


Assuntos
Imagem de Tensor de Difusão , Inibição Psicológica , Imageamento por Ressonância Magnética , Substância Branca , Humanos , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Masculino , Feminino , Adulto , Avaliação Momentânea Ecológica , Transtornos Relacionados ao Uso de Substâncias/fisiopatologia , Transtornos Relacionados ao Uso de Substâncias/diagnóstico por imagem , Teste de Stroop , Alcoolismo/fisiopatologia , Alcoolismo/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Pessoa de Meia-Idade , Tabagismo/fisiopatologia , Tabagismo/diagnóstico por imagem , Abuso de Maconha/fisiopatologia , Abuso de Maconha/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Smartphone , Vias Neurais/diagnóstico por imagem , Vias Neurais/fisiopatologia , Anisotropia , Adulto Jovem
4.
Physiol Behav ; 280: 114553, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38615730

RESUMO

Children born very preterm often exhibit atypical gaze behaviors, affect recognition difficulties and are at risk for cerebral white matter damage. This study explored links between these sequalae. In 24 12-year-old children born very preterm, ventricle size using Evans and posterior ventricle indices, and corpus callosum area were used to measure white matter thickness. The findings revealed a correlation between less attention towards the eyes and larger ventricle size. Ventricle and posterior corpus callosum sizes were correlated to affect-recognition proficiency. Findings suggest a link between white matter damage, gaze behavior, and affect recognition accuracy, emphasizing a relation with social perception.


Assuntos
Imageamento por Ressonância Magnética , Humanos , Projetos Piloto , Feminino , Criança , Masculino , Lactente Extremamente Prematuro/fisiologia , Substância Branca/diagnóstico por imagem , Reconhecimento Psicológico/fisiologia , Corpo Caloso/diagnóstico por imagem , Ventrículos Cerebrais/diagnóstico por imagem , Fixação Ocular/fisiologia
5.
J Affect Disord ; 356: 363-370, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38615848

RESUMO

BACKGROUND: Previous neuroimaging and pathological studies have found myelin-related abnormalities in bipolar disorder (BD), which prompted the use of magnetic resonance (MR) imaging technology sensitive to neuropathological changes to explore its neuropathological basis. We holistically investigated alterations in myelin within BD patients by inhomogeneous magnetization transfer (ihMT), which is sensitive and specific to myelin content. METHODS: Thirty-one BD and 42 healthy controls (HC) were involved. Four MR metrics, i.e., ihMT ratio (ihMTR), pseudo-quantitative ihMT (qihMT), magnetization transfer ratio and pseudo-quantitative magnetization transfer (qMT), were compared between groups using analysis methods based on whole-brain voxel-level and white matter regions of interest (ROI), respectively. RESULTS: The voxel-wise analysis showed significantly inter-group differences of ihMTR and qihMT in the corpus callosum. The ROI-wise analysis showed that ihMTR, qihMT, and qMT values in BD group were significantly lower than that in HC group in the genu and body of corpus callosum, left anterior limb of the internal capsule, left anterior corona radiate, and bilateral cingulum (p < 0.001). And the qihMT in genu of corpus callosum and right cingulum were negatively correlated with depressive symptoms in BD group. LIMITATIONS: This study is based on cross-sectional data and the sample size is limited. CONCLUSION: These findings suggest the reduced myelin content of anterior midline structure in the bipolar patients, which might be a critical pathophysiological feature of BD.


Assuntos
Transtorno Bipolar , Imageamento por Ressonância Magnética , Bainha de Mielina , Humanos , Transtorno Bipolar/diagnóstico por imagem , Transtorno Bipolar/patologia , Feminino , Masculino , Adulto , Bainha de Mielina/patologia , Pessoa de Meia-Idade , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Estudos de Casos e Controles , Encéfalo/diagnóstico por imagem , Encéfalo/patologia
6.
World Neurosurg ; 185: e944-e950, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38458249

RESUMO

BACKGROUND: Cytotoxic lesions of the corpus callosum (CLOCCs) are occasionally associated with aneurysmal subarachnoid hemorrhage (aSAH). The effects of aSAH on clinical outcomes in such cases are unclear. The present study aimed to investigate the frequency and characteristics of CLOCCs associated with aSAH to ascertain the predictors of shunt-dependent chronic hydrocephalus (SDCH) after aSAH. METHODS: We retrospectively investigated cases of aSAH treated by coil embolization. Patients were divided into those with and without CLOCCs. Between-group differences were evaluated, including clinical outcomes and the characteristics of both the patients and the aneurysms. Patients were divided into those with and without SDCH to identify predictive factors of SDCH after aSAH focusing on CLOCCs. RESULTS: This single-center study included 196 patients with aSAH. All patients received coil embolization between April 2013 and March 2020. CLOCCs were detected in 38 (19.4%) patients. In the group with CLOCCs, male sex, poor severity grade at onset, acute hydrocephalus, SDCH (all P < 0.01), and Fisher group 3 or 4 (P = 0.04) were significantly more common than in the group without CLOCCs. Diabetes and CLOCCs were significant predictors of SDCH after aSAH in multivariate analysis (diabetes: P < 0.01, odds ratio: 6.73, 95% confidence interval: 1.61-28.09; CLOCCs: P < 0.01, odds ratio: 6.86, 95% confidence interval: 2.87-16.38). CONCLUSIONS: CLOCCs and SDCH were common in patients with poor-grade aSAH, and CLOCCs were independent predictors of SDCH after aSAH. Meticulous follow-up is necessary to detect SDCH after aSAH, especially in patients with poor-grade aSAH and CLOCCs.


Assuntos
Corpo Caloso , Embolização Terapêutica , Hidrocefalia , Hemorragia Subaracnóidea , Humanos , Masculino , Hidrocefalia/etiologia , Hidrocefalia/cirurgia , Feminino , Hemorragia Subaracnóidea/cirurgia , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/diagnóstico por imagem , Pessoa de Meia-Idade , Corpo Caloso/diagnóstico por imagem , Estudos Retrospectivos , Idoso , Embolização Terapêutica/métodos , Adulto , Doença Crônica , Derivações do Líquido Cefalorraquidiano
7.
Neuroreport ; 35(6): 366-373, 2024 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-38526949

RESUMO

Language dysfunction is common in Parkinson's disease (PD) patients, among which, the decline of semantic fluency is usually observed. This study aims to explore the relationship between white matter (WM) alterations and semantic fluency changes in PD patients. 127 PD patients from the Parkinson's Progression Markers Initiative cohort who received diffusion tensor imaging scanning, clinical assessment and semantic fluency test (SFT) were included. Tract-based special statistics, automated fiber quantification, graph-theoretical and network-based analyses were performed to analyze the correlation between WM structural changes, brain network features and semantic fluency in PD patients. Fractional anisotropy of corpus callosum, anterior thalamic radiation, inferior front-occipital fasciculus, and uncinate fasciculus, were positively correlated with SFT scores, while a negative correlation was identified between radial diffusion of the corpus callosum, inferior longitudinal fasciculus, and SFT scores. Automatic fiber quantification identified similar alterations with more details in these WM tracts. Brain network analysis positively correlated SFT scores with nodal efficiency of cerebellar lobule VIII, and nodal local efficiency of cerebellar lobule X. WM integrity and myelin integrity in the corpus callosum and several other language-related WM tracts may influence the semantic function in PD patients. Damage to the cerebellum lobule VIII and lobule X may also be involved in semantic dysfunction in PD patients.


Assuntos
Doença de Parkinson , Substância Branca , Humanos , Imagem de Tensor de Difusão/métodos , Corpo Caloso/diagnóstico por imagem , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico por imagem , Estudos Transversais , Semântica , Encéfalo/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Cerebelo , Anisotropia
8.
Eur Rev Med Pharmacol Sci ; 28(5): 1970-1975, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38497890

RESUMO

BACKGROUND: Intracranial dermoid cysts (DCs) represent an infrequent subset of congenital ectodermal inclusion cysts predominantly observed near the midline structures. In spite of their benign nature, they can cause clinical manifestations, necessitating surgical removal as the main therapeutic measure. CASE REPORT: We present here an extremely rare case characterized by a radiologically atypical dermoid cyst located within the corpus callosum, an extremely rare location for such tumors. Successful surgical excision resulted in good clinical outcomes. CONCLUSIONS: This paper underscores the importance of a timely, proper radiological diagnostic process, which sees magnetic resonance imaging (MRI) as the main step, as well as the fact that interpretation of MRI data can sometimes be challenging, as it was in the patient of this report.


Assuntos
Cisto Dermoide , Radiologia , Humanos , Corpo Caloso/diagnóstico por imagem , Cisto Dermoide/diagnóstico por imagem , Cisto Dermoide/cirurgia
9.
Cereb Cortex ; 34(3)2024 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-38436465

RESUMO

Alzheimer's disease (AD) is associated with functional disruption in gray matter (GM) and structural damage to white matter (WM), but the relationship to functional signal in WM is unknown. We performed the functional connectivity (FC) and graph theory analysis to investigate abnormalities of WM and GM functional networks and corpus callosum among different stages of AD from a publicly available dataset. Compared to the controls, AD group showed significantly decreased FC between the deep WM functional network (WM-FN) and the splenium of corpus callosum, between the sensorimotor/occipital WM-FN and GM visual network, but increased FC between the deep WM-FN and the GM sensorimotor network. In the clinical groups, the global assortativity, modular interaction between occipital WM-FN and visual network, nodal betweenness centrality, degree centrality, and nodal clustering coefficient in WM- and GM-FNs were reduced. However, modular interaction between deep WM-FN and sensorimotor network, and participation coefficients of deep WM-FN and splenium of corpus callosum were increased. These findings revealed the abnormal integration of functional networks in different stages of AD from a novel WM-FNs perspective. The abnormalities of WM functional pathways connect downward to the corpus callosum and upward to the GM are correlated with AD.


Assuntos
Doença de Alzheimer , Substância Branca , Humanos , Doença de Alzheimer/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Córtex Cerebral , Corpo Caloso/diagnóstico por imagem , Substância Cinzenta/diagnóstico por imagem
11.
Neuropsychologia ; 196: 108839, 2024 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-38401630

RESUMO

The existence of unconscious visually triggered behavior in patients with cortical blindness (e.g., homonymous hemianopia) has been amply demonstrated and the neural bases of this phenomenon have been thoroughly studied. However, a crosstalk between the two hemispheres as a possible mechanism of unconscious or partially conscious vision has not been so far considered. Thus, the aim of this study was to assess the relationship between structural and functional properties of the corpus callosum (CC), as shown by probabilistic tractography (PT), behavioral detection/discrimination performance and level of perceptual awareness in the blind field of patients with hemianopia. Twelve patients were tested in two tasks with black-and-white visual square-wave gratings, one task of movement and the other of orientation. The stimuli were lateralized to one hemifield either intact or blind. A PT analysis was carried out on MRI data to extract fiber properties along the CC (genu, body, and splenium). Compared with a control group of participants without brain damage, patients showed lower FA values in all three CC sections studied. For the intact hemifield we found a significant correlation between PT values and visual detection/discrimination accuracy. For the blind hemifield the level of perceptual awareness correlated with PT values for all three CC sections in the movement task. Importantly, significant differences in all three CC sections were found also between patients with above-vs. chance detection/discrimination performance while differences in the genu were found between patients with and without perceptual awareness. Overall, our study provides evidence that the properties of CC fibers are related to the presence of unconscious stimulus detection/discrimination and to hints of perceptual awareness for stimulus presentation to the blind hemifield. These results underline the importance of information exchange between the damaged and the healthy hemisphere for possible partial or full recovery from hemianopia.


Assuntos
Cegueira Cortical , Hemianopsia , Humanos , Hemianopsia/diagnóstico por imagem , Corpo Caloso/diagnóstico por imagem , Percepção Visual , Inconsciência , Estimulação Luminosa
12.
J Child Neurol ; 39(1-2): 66-76, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38387869

RESUMO

This study investigates structural alterations of the corpus callosum in children diagnosed with infantile hydrocephalus. We aim to assess both macrostructural (volume) and microstructural (diffusion tensor imaging metrics) facets of the corpus callosum, providing insights into the nature and extent of alterations associated with this condition. Eighteen patients with infantile hydrocephalus (mean age = 9 years) and 18 age- and sex-matched typically developing healthy children participated in the study. Structural magnetic resonance imaging and diffusion tensor imaging were used to assess corpus callosum volume and microstructure, respectively. Our findings reveal significant alterations in corpus callosum volume, particularly in the posterior area, as well as distinct microstructural disparities, notably pronounced in these same segments. These results highlight the intricate interplay between macrostructural and microstructural aspects in understanding the impact of infantile hydrocephalus. Examining these structural alterations provides an understanding into the mechanisms underlying the effects of infantile hydrocephalus on corpus callosum integrity, given its pivotal role in interhemispheric communication. This knowledge offers a more nuanced perspective on neurologic disorders and underscores the significance of investigating the corpus callosum's health in such contexts.


Assuntos
Corpo Caloso , Imagem de Tensor de Difusão , Hidrocefalia , Imageamento por Ressonância Magnética , Humanos , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Masculino , Feminino , Imagem de Tensor de Difusão/métodos , Criança , Imageamento por Ressonância Magnética/métodos , Pré-Escolar , Lactente , Processamento de Imagem Assistida por Computador
13.
BMC Pregnancy Childbirth ; 24(1): 101, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-38302905

RESUMO

BACKGROUND: To analyze the genetic characteristics and long-term outcomes of fetuses with dysplasia of the corpus callosum (DCC) or partial agenesis of the corpus callosum (PACC). METHODS: A total of 42 fetuses with DCC (n = 36) or PACC (n = 6) were retrospectively analyzed from January 2016 to December 2022 at the Peking University First Hospital. The cohort was categorized into isolated (15/42, 36%) and nonisolated groups (27/42, 64%), and differences in the genetic abnormalities and long-term outcomes between the two groups were analyzed. DCC was subdivided into short CC, thin CC, and thick CC. The outcomes of the three different types of DCC were analyzed and discussed. RESULTS: (1) Thirty-nine of the 42 cases underwent CMA (chromosomal microarray analysis) and CMA + WES (whole exome sequencing), with 13/15 cases in isolated group and 26/27 cases in nonisolated group. Only pathogenic or likely pathogenic (P/LP) variants were considered, identifying P/LP variants in 2/13 cases in isolated group and 12/26 cases in nonisolated group. There was no significant difference between the two groups (χ² = 3.566, P = 0.05897). (2) In the isolated group, 8 cases were terminated, and 7 cases were delivered. Postnatal follow-up detected 1 case of gross motor development delay one year after birth; no obvious abnormalities were found in the other six cases. In the nonisolated group, 21 cases were terminated, and 6 cases were delivered. Postnatal follow-up detected 4 cases of children with different degrees of language, motor and intelligence abnormalities; 1 case died 10 days after birth. No obvious abnormalities were observed in one case. Six cases (86%, 6/7) in the isolated group showed normal development, compared with 1 case (17%, 1/6) in the nonisolated group, with a significant difference (χ² = 6.198, P = 0.01279). (3) In DCC, the delivery rates of short CCs (18 cases), thin CCs (13 cases), and thick CCs (5 cases) were 17% (3/18), 54% (7/13), and 20% (1/5), respectively, with good outcomes observed in 0% (0/3), 71% (5/7), and 0% (0/1), respectively. P/LP variants were found in 6/17 cases of short CC, 3/12 cases of thin CC, and 2/5 cases of thick CC. CONCLUSIONS: Fetuses with DCC or PACC combined with other structural abnormalities had a poor long-term prognosis compared with the isolated group. Patients with thin CCs had a higher probability of a good prognosis than those with short or thick CCs.


Assuntos
Agenesia do Corpo Caloso , Corpo Caloso , Ultrassonografia Pré-Natal , Gravidez , Criança , Feminino , Humanos , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Estudos Retrospectivos , Prognóstico , Feto , Diagnóstico Pré-Natal
14.
Hum Brain Mapp ; 45(3): e26629, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38379508

RESUMO

The corpus callosum (CC) is the principal white matter bundle supporting communication between the two brain hemispheres. Despite its importance, a comprehensive mapping of callosal connections is still lacking. Here, we constructed the first bidirectional population-based callosal connectional atlas between the midsagittal section of the CC and the cerebral cortex of the human brain by means of diffusion-weighted imaging tractography. The estimated connectional topographic maps within this atlas have the most fine-grained spatial resolution, demonstrate histological validity, and were reproducible in two independent samples. This new resource, a complete and comprehensive atlas, will facilitate the investigation of interhemispheric communication and come with a user-friendly companion online tool (CCmapping) for easy access and visualization of the atlas.


Assuntos
Córtex Cerebral , Corpo Caloso , Humanos , Adulto Jovem , Vias Neurais/diagnóstico por imagem , Vias Neurais/patologia , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/patologia , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Imagem de Difusão por Ressonância Magnética/métodos , Encéfalo , Mapeamento Encefálico/métodos
15.
Prenat Diagn ; 44(3): 357-359, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38366977

RESUMO

A 36 years old woman in her first pregnancy was referred at 24w3d for a dedicated neurosonographic examination due to a suspected short corpus callosum (CC). The examination depicted a dysgenetic CC with asymmetric thickness at the level of the body in coronal views, very thin in the midline and thicker in both sides, suggesting bilateral formation of Probst bundles. The BPD, HC, and transverse cerebellar diameters were in the normal low range without associated growth restriction. Associated anomalies were not detected in the brain or other organs. Following genetic consultation and a normal CMA, trio exome sequencing was performed and a de novo missense pathogenic mutation c.2353 C > T in the DHX30 gene was detected. This variant has been previously reported in children and adults, mostly with a severe phenotype including neurodevelopmental disorder with variable motor and language impairment, but also mild phenotypes have been reported. MRI describes delayed myelination, ventriculomegaly, and cortical and cerebellar atrophy as imaging features in affected patients. This is the first prenatal report of a DHX30-associated neurodevelopmental disorder in which the fetus presents with isolated callosal dysgenesis, stressing the importance of exome sequencing in fetuses with this condition, as far as it is phenotypic presentation of numerous syndromes with different outcomes.


Assuntos
Corpo Caloso , Hidrocefalia , Adulto , Feminino , Humanos , Gravidez , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/genética , Encéfalo/anormalidades , Corpo Caloso/diagnóstico por imagem , Feto , Hidrocefalia/patologia , Imageamento por Ressonância Magnética/métodos , RNA Helicases
16.
Cereb Cortex ; 34(2)2024 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-38300178

RESUMO

Obesity has been linked to abnormal frontal function, including the white matter fibers of anterior portion of the corpus callosum, which is crucial for information exchange within frontal cortex. However, alterations in white matter anatomical connectivity between corpus callosum and cortical regions in patients with obesity have not yet been investigated. Thus, we enrolled 72 obese and 60 age-/gender-matched normal weight participants who underwent clinical measurements and diffusion tensor imaging. Probabilistic tractography with connectivity-based classification was performed to segment the corpus callosum and quantify white matter anatomical connectivity between subregions of corpus callosum and cortical regions, and associations between corpus callosum-cortex white matter anatomical connectivity and clinical behaviors were also assessed. Relative to normal weight individuals, individuals with obesity exhibited significantly greater white matter anatomical connectivity of corpus callosum-orbitofrontal cortex, which was positively correlated with body mass index and self-reported disinhibition of eating behavior, and lower white matter anatomical connectivity of corpus callosum-prefrontal cortex, which was significantly negatively correlated with craving for high-calorie food cues. The findings show that alterations in white matter anatomical connectivity between corpus callosum and frontal regions involved in reward and executive control are associated with abnormal eating behaviors.


Assuntos
Corpo Caloso , Substância Branca , Humanos , Corpo Caloso/diagnóstico por imagem , Encéfalo , Imagem de Tensor de Difusão/métodos , Substância Branca/diagnóstico por imagem , Obesidade/diagnóstico por imagem
17.
Sci Rep ; 14(1): 2911, 2024 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-38316892

RESUMO

This study created an image-to-image translation model that synthesizes diffusion tensor images (DTI) from conventional diffusion weighted images, and validated the similarities between the original and synthetic DTI. Thirty-two healthy volunteers were prospectively recruited. DTI and DWI were obtained with six and three directions of the motion probing gradient (MPG), respectively. The identical imaging plane was paired for the image-to-image translation model that synthesized one direction of the MPG from DWI. This process was repeated six times in the respective MPG directions. Regions of interest (ROIs) in the lentiform nucleus, thalamus, posterior limb of the internal capsule, posterior thalamic radiation, and splenium of the corpus callosum were created and applied to maps derived from the original and synthetic DTI. The mean values and signal-to-noise ratio (SNR) of the original and synthetic maps for each ROI were compared. The Bland-Altman plot between the original and synthetic data was evaluated. Although the test dataset showed a larger standard deviation of all values and lower SNR in the synthetic data than in the original data, the Bland-Altman plots showed each plot localizing in a similar distribution. Synthetic DTI could be generated from conventional DWI with an image-to-image translation model.


Assuntos
Aprendizado Profundo , Substância Branca , Humanos , Corpo Caloso/diagnóstico por imagem , Razão Sinal-Ruído , Cápsula Interna , Imagem de Difusão por Ressonância Magnética/métodos
19.
BMJ Case Rep ; 17(1)2024 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-38272506

RESUMO

We present the case of a patient with extensive ischaemia of the corpus callosum (CC) including all its anatomical subdivisions, caused by a ruptured aneurysm of the anterior cerebral artery (ACA). This resulted in subarachnoid haemorrhage (SAH) and subsequently in cerebral vasospasm. The aneurysm was coiled, the vasospasm treated with repetitive intra-arterial spasmolysis and the patient then received intensive neurorehabilitative care. The case is an example of ischaemic infarction, which happens rarely in the CC after SAH, and even more rarely affects the CC along its entire length. The case is further remarkable for the resulting nearly complete and isolated split-brain syndrome: CC disconnection syndromes are only exceptionally seen after vascular callosal damage because they are most often overshadowed by symptoms resulting from coaffected adjacent brain areas.


Assuntos
Aneurisma Roto , Aneurisma Intracraniano , Procedimento de Encéfalo Dividido , Hemorragia Subaracnóidea , Vasoespasmo Intracraniano , Humanos , Hemorragia Subaracnóidea/complicações , Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/cirurgia , Encéfalo , Corpo Caloso/diagnóstico por imagem , Vasoespasmo Intracraniano/complicações , Vasoespasmo Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Roto/complicações , Aneurisma Roto/diagnóstico por imagem
20.
BMC Neurol ; 24(1): 44, 2024 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-38273263

RESUMO

BACKGROUND: Wilson's disease (WD) is an inherited disorder of copper metabolism. Agenesis of the corpus callosum is the complete or partial absence of the major united fiber bundles connecting the cerebral hemispheres. Intracranial lipoma is an adipose tissue tumor resulting from an abnormal embryonic development of the central nervous system. The simultaneous occurrence of these three disorders is rare and has not been reported. This report focuses on the pathogenesis and association between the three disorders and highlights the importance of recognizing and effectively managing their coexistence. CASE PRESENTATION: The purpose of this study was to present a patient with coexisting WD, intracranial lipoma, and corpus callosum dysplasia. We reviewed a female patient hospitalized in 2023 with clinical manifestations of elevated aminotransferases and decreased ceruloplasmin, as well as genetic testing for an initial diagnosis of Wilson's disease. Subsequently, a cranial MRI showed corpus callosum dysplasia with short T1 signal changes in the cerebral falx, leading to a final diagnosis of Wilson's disease combined with intracranial lipoma and corpus callosum dysplasia. The patient's WD is currently stable after treatment with sodium dimercaptosulfonamide (DMPS) and penicillamine, and the patient's abnormal copper metabolism may promote the growth of intracranial lipoma. CONCLUSION: The pathogenesis of WD combined with intracranial lipoma and corpus callosum dysplasia is complex and clinically rare. The growth of intracranial lipomas may be associated with abnormal copper metabolism in WD. Abnormal copper metabolism affects lipid metabolism and triggers inflammatory responses. Therefore, early diagnosis and treatment are beneficial for improvement. Each new case of this rare co-morbidity is important as it allows for a better assessment and understanding of these cases' more characteristic clinical manifestations, which can help estimate the course of the disease and possible therapeutic options.


Assuntos
Neoplasias Encefálicas , Degeneração Hepatolenticular , Lipoma , Gravidez , Humanos , Feminino , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico por imagem , Degeneração Hepatolenticular/tratamento farmacológico , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Cobre/metabolismo , Penicilamina/uso terapêutico , Lipoma/complicações , Lipoma/diagnóstico por imagem , Lipoma/patologia , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia
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