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1.
BMC Neurol ; 24(1): 353, 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39300408

RESUMEN

BACKGROUND: Reversible splenial lesion syndrome (RESLES) is known as a neuro-imaging syndrome with recurrent but reversible lesion of the corpus callosum, characterized by nonspecific but usually mild encephalopathies and specific imaging manifestations.There are few published reports in the field of oncology. CASE PRESENTATION: A 33-year-old female with right breast cancer and with no particular family history was admitted to hospital with high fever and severe headache, after receiving adjuvant radiotherapy. Blood routine test upon admission suggested neutropenia, considering myelosuppression associated with radiotherapy. There were no definite findings of common pathogenic microorganism, and no imaging indication of certain infectious sites other than a likely reversible corpus callosum syndrome suggested by brain MRI, which was relieved after systemic antibiotic therapy and granulocyte colony-stimulating factor injection. CONCLUSIONS: Reversible splenial lesion syndrome is a kind of clinical-imaging syndrome with multiple clinical manifestations and etiologies. This breast cancer patient after postoperative adjuvant radiotherapy develops a complication of RESLES that rings an alarm bell to the oncologists not to easily recognize the corpus callosum lesion as infarction or metastasis. Meanwhile, the potential pathogenic mechanisms need to be explored further.


Asunto(s)
Neoplasias de la Mama , Cuerpo Calloso , Humanos , Femenino , Neoplasias de la Mama/radioterapia , Neoplasias de la Mama/complicaciones , Adulto , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Radioterapia Adyuvante/efectos adversos , Neutropenia Febril/etiología , Imagen por Resonancia Magnética
2.
Cureus ; 16(8): e67378, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39310519

RESUMEN

The corpus callosum, the largest white matter structure in the brain, plays a crucial role in interhemispheric communication and cognitive function. This review examines the microstructural changes observed in the corpus callosum across various neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis (ALS). New neuroimaging studies, mainly those that use diffusion tensor imaging (DTI) and advanced tractography methods, were put together to show how changes have happened in the organization of white matter and the connections between them. Some of the most common ways the corpus callosum breaks down are discussed, including less fractional anisotropy, higher mean diffusivity, and atrophy in certain regions. The relationship between these microstructural changes and cognitive decline, motor dysfunction, and disease progression is explored. Additionally, we consider the potential of corpus callosum imaging as a biomarker for early disease detection and monitoring. Studies show that people with these disorders have lower fractional anisotropy and higher mean diffusivity in the corpus callosum, often in ways that are specific to the disease. These changes often happen before gray matter atrophy and are linked to symptoms, which suggests that the corpus callosum could be used as an early sign of neurodegeneration. The review also highlights the implications of these findings for understanding disease mechanisms and developing therapeutic strategies. Future directions, including the application of advanced imaging techniques and longitudinal studies, are discussed to elucidate the role of corpus callosum degeneration in neurodegenerative processes. This review underscores the importance of the corpus callosum in understanding the pathophysiology of neurodegenerative diseases and its potential as a target for therapeutic interventions.

3.
Mult Scler Relat Disord ; 91: 105856, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39265269

RESUMEN

BACKGROUND: Few studies have quantitatively analyzed the imaging disparities between multiple sclerosis (MS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to compare the imaging characteristics of MS and CADASIL in middle-aged patients. MATERIALS AND METHODS: This retrospective study used a single-center database and included patients aged 40-60 years with MS and CADASIL who underwent the designated imaging protocol including 3D T1-weighted imaging and fluid attenuated inversion recovery (FLAIR), diffusion tensor imaging and susceptibility-weighted imaging between January 2018 and March 2023. Patients with MRI-detected macrobleeds were excluded. RESULTS: A total of 27 patients with MS (mean age, 46.7 years ± 4.4, 8 men) and 30 patients with CADASIL (mean age, 51.6 years ± 5.8, 14 men) were included. No significant differences were observed in the Fazekas grades of white matter lesions (WMLs). Patients with CADASIL exhibited greater external capsule involvement (56.7% vs.18.5 %; p = 0.006), whereas the MS group had more lesions in the corpus callosum (81.5% vs. 53.3 %, p = 0.02) and brainstem (74.1% vs. 46.7 %, p = 0.04). The CADASIL group exhibited a higher incidence of microbleeds (12.07 vs. 0.11, p = 0.001). The WMLs in the MS group exhibited a lower T1 lesion/cerebrospinal fluid signal index (2.206 vs. 2.882, p < 0.001). A value of ≤2.57 demonstrated a sensitivity of 92.6 % and a specificity of 90.0 % in differentiating MS. Patients with MS had a thinner corpus callosum (7.18 mm vs 7.86 mm, p = 0.04), while patients with CADASIL showed significantly higher mean diffusivity (0.8776 × 10-3 vs. 0.7637 × 10-3 mm2/s, p = 0.03) and lower fractional anisotropy (0.7581 vs. 0.8389, p = 0.04) in the splenium of the corpus callosum. CONCLUSION: Middle-aged patients with MS and CADASIL showed comparable Fazekas grades for WMLs. However, lesion distribution, T1 signal characteristics, and splenic diffusivity changes can help differentiate between MS and CADASIL.

4.
Ann Med ; 56(1): 2401107, 2024 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-39253859

RESUMEN

INTRODUCTION: RESLES (Reversible splenial lesion syndrome) can be observed secondary to various diseases, and intramyelinic edema may play a crucial role in the pathogenesis of SCC (Splenium of the corpus callosum). Some studies have suggested that hypoxic-ischaemic encephalopathy may constitute a risk factor for SCC lesions. However, the potential impact of high-altitude environments on SCC, especially during chronic exposure, remain obscure. METHODS: Our study included 19 patients who satisfied the diagnostic criteria of RESLES at high altitudes. Ten low-altitude patients with RESLES were included as controls. All participants received MRI (Magnetic resonance imaging) scans twice. Routine blood tests, liver, kidney and thyroid function, coagulation function, electrolytes and vitamins were detected during hospitalization and before discharge. In addition, the patients were followed up in May 2023. RESULTS: Hypoxic environments at high altitudes may increase the risk of RESLES. The two groups showed different clinical symptoms. High-altitude patients had significantly higher CRP levels than low-altitude patients. The lesion size in high-altitude patients showed a positive correlation with SaO2 levels. However, the patients at low altitudes had positive correlation trends between lesion size and several inflammatory markers (WBC, NEU and CRP). All patients had a benign prognosis that may not be affected by the use of prednisone acetate. CONCLUSIONS: Hypoxic environments at high altitudes may play a role in the aetiology of RESLES. Additionally, RESLES is a reversible disease and the administration of glucocorticoids may be dispensable for its treatment.


Asunto(s)
Altitud , Cuerpo Calloso , Imagen por Resonancia Magnética , Humanos , Masculino , Femenino , Adulto , Pronóstico , Persona de Mediana Edad , Cuerpo Calloso/patología , Cuerpo Calloso/diagnóstico por imagen , Factores de Riesgo , Hipoxia , Proteína C-Reactiva/análisis , Proteína C-Reactiva/metabolismo , Síndrome , Adulto Joven
5.
Cortex ; 180: 42-54, 2024 Sep 16.
Artículo en Inglés | MEDLINE | ID: mdl-39317110

RESUMEN

Corpus callosum dysgenesis (CCD) is a congenital brain malformation that occurs when the development of the corpus callosum is disrupted, either partially or completely. The cognitive outcomes in individuals with CCD vary greatly, but generally the neuropsychological profile is characterised by slow processing speed, poor transfer of interhemispheric sensory-motor information, and impaired complex problem solving. Core language skills are often preserved in CCD, but there is some evidence that complex language may be impaired. Thus, the current study sought to examine whether spontaneous speech output was reduced in a cohort of individuals with CCD compared to age-matched controls. We further explored a series of factors that may be contributing to poor spontaneous speech in CCD, such as difficulties generating, selecting, and sequencing ideas for expression, as well as apathy and slowed processing speed. A cohort of 25 individuals with CCD and 39 neurotypical controls were enrolled in this study. Participants completed a picture description task to measure spontaneous speech output, alongside a series of cognitive and language baseline tests. Verbal and nonverbal fluency tasks gauged idea generation and sequencing, and sentence-level selection tasks measured idea selection. We found that, despite having largely intact core language skills, individuals with CCD produced significantly less spontaneous speech on the picture description task than controls. This language profile may be described as "adynamic". Further, we found that poor spontaneous speech output in CCD was related to problems generating ideas for expression, as individuals with CCD performed below controls on the verbal and nonverbal fluency tasks. Exploratory analyses revealed that apathy and slowed processing speed may be contributing factors. Adynamia in CCD is a novel finding that may be an intervention target for improving communication skills in this population.

6.
Neuroimage ; 299: 120844, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-39260781

RESUMEN

Congenital blindness offers a unique opportunity to investigate human brain plasticity. The influence of congenital visual loss on the asymmetry of the structural network remains poorly understood. To address this question, we recruited 21 participants with congenital blindness (CB) and 21 age-matched sighted controls (SCs). Employing diffusion and structural magnetic resonance imaging, we constructed hemispheric white matter (WM) networks using deterministic fiber tractography and applied graph theory methodologies to assess topological efficiency (i.e., network global efficiency, network local efficiency, and nodal local efficiency) within these networks. Statistical analyses revealed a consistent leftward asymmetry in global efficiency across both groups. However, a different pattern emerged in network local efficiency, with the CB group exhibiting a symmetric state, while the SC group showed a leftward asymmetry. Specifically, compared to the SC group, the CB group exhibited a decrease in local efficiency in the left hemisphere, which was caused by a reduction in the nodal properties of some key regions mainly distributed in the left occipital lobe. Furthermore, interhemispheric tracts connecting these key regions exhibited significant structural changes primarily in the splenium of the corpus callosum. This result confirms the initial observation that the reorganization in asymmetry of the WM network following congenital visual loss is associated with structural changes in the corpus callosum. These findings provide novel insights into the neuroplasticity and adaptability of the brain, particularly at the network level.


Asunto(s)
Ceguera , Imagen de Difusión Tensora , Plasticidad Neuronal , Sustancia Blanca , Humanos , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Masculino , Femenino , Plasticidad Neuronal/fisiología , Adulto , Ceguera/congénito , Ceguera/fisiopatología , Ceguera/diagnóstico por imagen , Ceguera/patología , Adulto Joven , Imagen de Difusión Tensora/métodos , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/fisiopatología , Red Nerviosa/patología , Imagen por Resonancia Magnética , Adolescente , Privación Sensorial/fisiología
7.
Arch Gynecol Obstet ; 2024 Sep 19.
Artículo en Inglés | MEDLINE | ID: mdl-39298005

RESUMEN

OBJECTIVE: This study aimed to establish normal reference ranges for fetal corpus callosum (CC) measured by prenatal ultrasonography (USG) between 16 and 25 weeks of gestation in healthy fetuses. MATERIAL AND METHOD: A total of 809 fetuses in the second trimester were evaluated by transabdominal USG. All measurements were obtained by a single clinician. RESULTS: Based on the correlation analysis, a significant positive correlation was found between gestational week and CC (r = 0.907, p < 0.001). CONCLUSION: We anticipate that the reference intervals obtained from healthy fetuses will help clinicians who are interested in neurosonography to detect CC abnormalities at an early stage.

8.
Neuroimage Clin ; 44: 103670, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39293356

RESUMEN

Pyramidal cells give rise to the corpus callosum, interhemispheric fibers that constitute the associations between the left and the right hemispheres. These interconnections are the substrates of important neurological functions, such as perception, memory, emotion, and movement control, which are all affected in Huntington's disease (HD). In this study we used directional tract density patterns (dTDPs) to evaluate changes in interhemispheric connectivity in gene-expanded individuals, which included presymptomatic and early symptomatic HD subjects. Our results demonstrated regionally selective and progressive differences in dTDPs between distinct regions of the corpus callosum (subdivided by Hofer-Frahm scheme) in the gene-expanded cohorts. In the presymptomatic HD cohort, we found trends, such that the density of fibers was reduced in CC regions IIb, III, and IV (p < 0.05); fibers from these regions project to sensory, premotor, and motor cortical regions, respectively. In the HD cohort, we found reduction in the density of fibers in all CC regions, including in fibers extending to the cortical surface (p < 0.002). Our results support the use of dTDPs to evaluate individual and progressive changes in interhemispheric connectivity in HD.

9.
J Clin Ultrasound ; 2024 Sep 20.
Artículo en Inglés | MEDLINE | ID: mdl-39302047

RESUMEN

OBJECTIVE: To examine the association between cavum septum pellucidum (CSP) and corpus callosum (CC) length and width measurements in mid-trimester sonographic screening in normal fetuses. METHODS: This prospective cohort study examined 152 pregnant women who underwent mid-trimester sonographic fetal anomaly screening. CSP and CC lengths and their anterior, middle, and posterior width measurements were examined sonographically. The association between length and width measurements of both structures, gestational week and CSP ratio (length/width) were evaluated. RESULTS: The mean CSP length was 7.96 ± 1.09 mm, and the mean middle width was 3.43 ± 0.82 mm. The mean CC length was 20 ± 3.76 mm, and the mean middle width was 3.43 ± 0.82 mm. There was a positive correlation between CSP and CC lengths (r = 0.691, p < 0.001). There was also a significant correlation between CSP and CC anterior, middle and posterior widths (anterior (r = 0.366, p < 0.001), middle (r = 0.305, p < 0.001), and posterior (r = 0.233, p = 0.004)). All CSP and CC measurements were correlated with gestational age, biparietal diameter (BPD), and head circumference (HC) (p < 0.001, for all). The CSP ratio was not related to CC dimensions (p > 0.05, for all) and also decreased with the increase in BPD and HC dimensions (r = -0.186, p = 0.022, and r = -0.174, p = 0.032; respectively). CONCLUSION: In normal fetuses, the length and width of the CC and CSP structures developed in relation to each other, as well as to the gestational week, BPD, and HC dimensions. In addition, while the CSP ratio was not found to be associated with CC dimensions, it decreased due to the increase in BPD and HC sizes.

10.
Radiol Case Rep ; 19(10): 4654-4658, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-39220789

RESUMEN

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease of the central nervous system (CNS) due to John Cunningham (JC) virus reactivation most often in immunocompromised patients. The brainstem and the anterior corpus callosum are uncommon locations for white matter lesions. We present a case of PML in a 40-year-old female presenting to the emergency department for a tonic seizure with transient postictal confusion. The inpatient workup revealed low cluster of differentiation cell counts (CD3 and CD4), transaminitis, positive drug screen, and abnormal electroencephalogram (EEG). The computed tomogram (CT) of the head and magnetic resonance image (MRI or MR) of the brain showed evidence of subcortical and periventricular white matter lesions in the right hemisphere extending into the brainstem and the left frontal lobe. The hospital course consisted of supportive measures, seizure treatment along with prophylaxis, and human immunodeficiency virus (HIV) management along with prophylactic antibiotics. The patient was discharged with appropriate medications and outpatient referrals. Overall, this case describes some key points. It highlights particular imaging characteristics of PML in the setting of inadequately treated HIV. For example, white matter lesions cross the anterior corpus callosum rather than the splenium, as in the "barbell" sign. In addition, the lesions extend inferiorly along the ipsilateral corticospinal tract into the midbrain and pons. This could be one of the first cases to capture both of these features given the rarity of their concomitant occurrence.

11.
Brain Res ; 1845: 149210, 2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39218333

RESUMEN

Cerebral asymmetry is a defining feature of the human brain, but some controversy exists with respect to the relationship between structural brain asymmetry and the dimensions of the corpus callosum, the brain's major inter-hemispheric commissure. On the one hand, more asymmetric brains might house a proportionally smaller corpus callosum (negative link), potentially due to intra-hemispheric connections dominating over inter-hemispheric connections. On the other hand, asymmetric brains may contain a proportionately larger corpus callosum (positive link), to facilitate a possibly enhanced demand of interhemispheric communication, either through excitatory or inhibitory channels. The scientific literature on this topic is relatively sparse, but we have identified 13 studies that directly assess the relationship between structural asymmetries and callosal morphology. The studies suggest a multitude of effects on the global, regional, and local levels, where findings range from negative links, to positive links, to no links whatsoever. These links are systematically summarized, detailed, and discussed in the present review. Discrepancies between study outcomes might arise from the application of different morphometric approaches, the differential treatment of possible confounds, as well as the size and characteristics of the study sample.

12.
Br J Neurosurg ; : 1-6, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39246067

RESUMEN

BACKGROUND: Bilateral, biventricular lesions present a challenging scenario in neurosurgery, often requiring complex surgical techniques for management. Gangliogliomas (GG), while typically indolent, can manifest as anaplastic variants (AGG), necessitating comprehensive treatment strategies. This case study explores a unique surgical approach for a patient with bilateral, intra-extraventricular lesions infiltrating the corpus callosum, highlighting the complexities of managing such cases. METHODS: A 63-year-old female presented with a progressive intraventricular lesion infiltrating the left frontal lobe, diagnosed initially as a ganglioglioma. Following resection and histological examination, the lesion was confirmed as a WHO Grade 1 ganglioglioma. Subsequently, a contralateral lesion emerged, necessitating a novel surgical approach to achieve maximal safe resection while minimising neurological deficits. The technique involved extending the surgical corridor contralaterally along the tumour route, guided by neuronavigation and fluorescence imaging. RESULTS: The surgical approach enabled maximal safe resection of the lesion, with postoperative imaging confirming complete resection in most sites except for a known infiltration in the right posterior lateral ventricle. Histological examination revealed AGG, prompting subsequent adjuvant radiotherapy due to its aggressive nature. CONCLUSION: The management of bilateral, biventricular lesions such as AGG requires innovative surgical approaches tailored to individual patient characteristics. The case highlights the efficacy of a transtumoral approach in achieving maximal safe resection while minimising neurological sequelae. Moreover, it underscores the importance of comprehensive treatment strategies, including adjuvant therapies, in addressing aggressive histological variants of gangliogliomas.

13.
J Neurosci ; 44(37)2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39160067

RESUMEN

During infancy and adolescence, language develops from a predominantly interhemispheric control-through the corpus callosum (CC)-to a predominantly intrahemispheric control, mainly subserved by the left arcuate fasciculus (AF). Using multimodal neuroimaging, we demonstrate that human left-handers (both male and female) with an atypical language lateralization show a rightward participation of language areas from the auditory cortex to the inferior frontal cortex when contrasting speech to tone perception and an enhanced interhemispheric anatomical and functional connectivity. Crucially, musicianship determines two different structural pathways to this outcome. Nonmusicians present a relation between atypical lateralization and intrahemispheric underdevelopment across the anterior AF, hinting at a dysregulation of the ontogenetic shift from an interhemispheric to an intrahemispheric brain. Musicians reveal an alternative pathway related to interhemispheric overdevelopment across the posterior CC and the auditory cortex. We discuss the heterogeneity in reaching atypical language lateralization and the relevance of early musical training in altering the normal development of language cognitive functions.


Asunto(s)
Lateralidad Funcional , Música , Humanos , Masculino , Femenino , Música/psicología , Adulto , Lateralidad Funcional/fisiología , Adulto Joven , Lenguaje , Vías Nerviosas/fisiología , Corteza Auditiva/fisiología , Corteza Auditiva/diagnóstico por imagen , Cuerpo Calloso/fisiología , Cuerpo Calloso/diagnóstico por imagen , Imagen por Resonancia Magnética , Adolescente , Mapeo Encefálico
14.
Quant Imaging Med Surg ; 14(8): 5499-5512, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39144056

RESUMEN

Background: Changes in both the vascular system and brain tissues can occur after a prior episode of coronavirus disease 2019 (COVID-19), detectable through modifications in diffusion parameters using magnetic resonance imaging (MRI) techniques. These changes in diffusion parameters may be particularly prominent in highly organized structures such as the corpus callosum (CC), including its major components, which have not been adequately studied following COVID-19 infection. Therefore, the study aimed to evaluate microstructural changes in whole-brain (WB) diffusion, with a specific focus on the CC. Methods: A total of 101 probands (age range from 18 to 69 years) participated in this retrospective study, consisting of 55 volunteers and 46 post-COVID-19 patients experiencing neurological symptoms. The participants were recruited from April 2022 to September 2023 at the Institute for Clinical and Experimental Medicine in Prague, Czech Republic. All participants underwent MRI examinations on a 3T MR scanner with a diffusion protocol, complemented by additional MRI techniques. Two volunteers and five patients were excluded from the study due to motion artefacts, severe hypoperfusion or the presence of lesions. Participants were selected by a neurologist based on clinical examination and a serological test for COVID-19 antibodies. They were then divided into three groups: a control group of healthy volunteers (n=28), an asymptomatic group (n=25) with a history of infection but no symptoms, and a symptomatic group (n=41) with a history of COVID-19 and neurological symptoms. Symptomatic patients did not exhibit neurological symptoms before contracting COVID-19. Diffusion data underwent eddy current and susceptibility distortion corrections, and fiber tracking was performed using default parameters in DSI studio. Subsequently, various diffusion metrics, were computed within the reconstructed tracts of the WB and CC. To assess the impact of COVID-19 and its associated symptoms on diffusion indices within the white matter of the WB and CC regions, while considering age, we employed a statistical analysis using a linear mixed-effects model within the R framework. Results: Statistical analysis revealed a significant difference in mean diffusivity (MD) between the symptomatic and control groups in the forceps minor (P=0.001) and CC body (P=0.003). In addition to changes in diffusion, alterations in brain perfusion were observed in two post-COVID-19 patients who experienced a severe course. Furthermore, hyperintense lesions were identified in subcortical and deep white matter areas in the vast majority of symptomatic patients. Conclusions: The main finding of our study was that post-COVID-19 patients exhibit increased MD in the forceps minor and body of the CC. This finding suggests a potential association between microstructural brain changes in post-COVID-19 patients and reported neurological symptoms, with significant implications for research and clinical applications.

15.
Prenat Diagn ; 2024 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-39117575

RESUMEN

OBJECTIVE: To assess the genetic etiologies underlying agenesis of the corpus callosum (ACC) and its pregnancy outcomes in the era of next-generation sequencing. METHODS: A retrospective analysis was conducted on prospectively collected prenatal ACC cases in which amniocentesis was performed between January 2016 and December 2022. ACC was divided into non-isolated and isolated according to the presence or absence of ultrasound abnormalities. Chromosomal microarray analysis (CMA), karyotyping and exome sequencing (ES) were performed after genetic counseling. Pregnancy outcomes were assessed by pediatric neurosurgeons and were followed up by telephone through their parents. RESULTS: Sixty-eight fetuses with ACC were enrolled in this study. CMA detected eight cases with pathogenic copy number variants (CNVs) and all were non-isolated ACC, with a detection rate of 11.8% (8/68). Among the CMA abnormalities, the majority (6/8) were detectable by karyotyping. ES was performed in 26 cases with normal CMA, revealing pathogenic or likely pathogenic gene variations in 12 cases (46.2%, 12/26), involving L1CMA, SMARCB1, PPP2R1A, ARID1B, USP34, CDC42, NFIA and DCC genes. The detection rates of ES in isolated and non-isolated ACC were 40% (6/15) and 54.5% (6/11), respectively. After excluding cases where pregnancy was terminated (56 cases), there were 12 live births, ranging in age from 15 months to 7 years. Of these, 91.7% (11 out of 12) demonstrated normal neurodevelopmental outcomes. Specifically, all five cases with isolated ACC and negative ES results exhibited normal neurodevelopment. The remaining six cases with favorable outcomes were all isolated ACC, among which ES identified variants of DCC and USP34 gene in one each case. The other four cases were CMA-negative and declined ES. CONCLUSIONS: We highlight the efficacy of prenatal ES in determining the genetic etiology of ACC, whether isolated or not. Favorable neurodevelopmental outcomes were observed when ACC was isolated and with normal ES results.

16.
Immun Inflamm Dis ; 12(8): e1367, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39119967

RESUMEN

BACKGROUND: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed. METHODS: We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S. RESULTS: A 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S. CONCLUSION: Our case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.


Asunto(s)
Exodesoxirribonucleasas , Leucoencefalopatías , Lupus Eritematoso Sistémico , Mutación , Humanos , Femenino , Adulto , Exodesoxirribonucleasas/genética , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/genética , Leucoencefalopatías/diagnóstico , Leucoencefalopatías/genética , Leucoencefalopatías/etiología , Fosfoproteínas/genética , Errores Diagnósticos/prevención & control , Imagen por Resonancia Magnética , Vasculitis Retiniana/diagnóstico , Vasculitis Retiniana/etiología , Enfermedades de la Retina , Enfermedades Vasculares , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias
17.
Cell Mol Life Sci ; 81(1): 346, 2024 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-39134808

RESUMEN

In people with multiple sclerosis (MS), newborn and surviving oligodendrocytes (OLs) can contribute to remyelination, however, current therapies are unable to enhance or sustain endogenous repair. Low intensity repetitive transcranial magnetic stimulation (LI-rTMS), delivered as an intermittent theta burst stimulation (iTBS), increases the survival and maturation of newborn OLs in the healthy adult mouse cortex, but it is unclear whether LI-rTMS can promote remyelination. To examine this possibility, we fluorescently labelled oligodendrocyte progenitor cells (OPCs; Pdgfrα-CreER transgenic mice) or mature OLs (Plp-CreER transgenic mice) in the adult mouse brain and traced the fate of each cell population over time. Daily sessions of iTBS (600 pulses; 120 mT), delivered during cuprizone (CPZ) feeding, did not alter new or pre-existing OL survival but increased the number of myelin internodes elaborated by new OLs in the primary motor cortex (M1). This resulted in each new M1 OL producing ~ 471 µm more myelin. When LI-rTMS was delivered after CPZ withdrawal (during remyelination), it significantly increased the length of the internodes elaborated by new M1 and callosal OLs, increased the number of surviving OLs that supported internodes in the corpus callosum (CC), and increased the proportion of axons that were myelinated. The ability of LI-rTMS to modify cortical neuronal activity and the behaviour of new and surviving OLs, suggests that it may be a suitable adjunct intervention to enhance remyelination in people with MS.


Asunto(s)
Cuprizona , Enfermedades Desmielinizantes , Vaina de Mielina , Oligodendroglía , Remielinización , Estimulación Magnética Transcraneal , Animales , Estimulación Magnética Transcraneal/métodos , Oligodendroglía/metabolismo , Enfermedades Desmielinizantes/terapia , Enfermedades Desmielinizantes/inducido químicamente , Enfermedades Desmielinizantes/patología , Ratones , Vaina de Mielina/metabolismo , Modelos Animales de Enfermedad , Ratones Transgénicos , Corteza Motora/patología , Corteza Motora/metabolismo , Supervivencia Celular , Ratones Endogámicos C57BL , Esclerosis Múltiple/terapia , Esclerosis Múltiple/patología
18.
Curr Alzheimer Res ; 2024 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-39177137

RESUMEN

INTRODUCTION: The Corpus Callosum (CC) is the largest commissural tract in the nervous system. Few studies have examined the extent of CC in Alzheimer's disease (AD) patients, and these studies have reported conflicting findings. MATERIALS AND METHODS: The study was performed using 176 brain MRI images of 88 Alzheimer's patients (55 women-32 men) and 88 healthy individuals (44 women-44 men). RESULTS: In our study, 7 different parameters of the CC were measured, and their average values were determined. We measured each parameter separately in AD patients and healthy individuals and compared them with each other. CONCLUSION: CC has an important place not only in Patients with AD but also in other neurodegenerative diseases. We consider that our study will be useful in the evaluation of Patients with AD.

19.
Asian J Surg ; 2024 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-39191586
20.
Front Hum Neurosci ; 18: 1407557, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39188408

RESUMEN

Several previous studies reported reduced leftward lateralization in blind participants' samples compared to the sighted population. The origins of this difference remain unknown. Here, we tested whether functional lateralization is connected with the structural characteristics of white matter tracts [corpus callosum (CC), uncinate fasciculus (UF), and superior longitudinal fasciculus (SLF)], as suggested by previous studies conducted in the typical sighted population. Twenty-three blind and 21 sighted adult participants were tested during fMRI with a semantic decision paradigm presented both auditorily and in the modality appropriate for reading (tactually for the blind and visually for the sighted). Lateralization indices (LI) were calculated based on the activations. The fractional anisotropy (FA) measure was extracted from the white matter tracts of interest. Correlation analyses testing the relationship between FA and LI were conducted. The reduced leftward lateralization of both speech processing and reading-related activations was replicated. Nevertheless, the relationship between the structural integrity of the CC and LI and between the asymmetry of the intrahemispheric tracts and LI was not confirmed, possibly due to the lack of power. The sources of the reduced lateralization of the language network in the sensory-deprived population remain unknown. Further studies should account for environmental variables (e.g., the frequency of contact with written language) and the complexity of the factors that may influence the functional lateralization of the human brain.

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