OBJECTIVE: To explore the genetic etiology of Vici syndrome in a Chinese family. METHODS: Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents. RESULTS: The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging. CONCLUSION The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged ; Agenesis of Corpus Callosum ; Autophagy-Related Proteins ; Cataract ; Female ; Humans ; Mutation ; Pregnancy ; Vesicular Transport Proteins/genetics* ; Whole Exome Sequencing

This study aimed to define the most consistent white matter microarchitecture pattern in Parkinson's disease (PD) reflected by fractional anisotropy (FA), addressing clinical profiles and methodology-related heterogeneity. Web-based publication databases were searched to conduct a meta-analysis of whole-brain diffusion tensor imaging studies comparing PD with healthy controls (HC) using the anisotropic effect size-signed differential mapping. A total of 808 patients with PD and 760 HC coming from 27 databases were finally included. Subgroup analyses were conducted considering heterogeneity with respect to medication status, disease stage, analysis methods, and the number of diffusion directions in acquisition. Compared with HC, patients with PD had decreased FA in the left middle cerebellar peduncle, corpus callosum (CC), left inferior fronto-occipital fasciculus, and right inferior longitudinal fasciculus. Most of the main results remained unchanged in subgroup meta-analyses of medicated patients, early stage patients, voxel-based analysis, and acquisition with 30 diffusion directions. The subgroup meta-analysis of medication-free patients showed FA decrease in the right olfactory cortex. The cerebellum and CC, associated with typical motor impairment, showed the most consistent FA decreases in PD. Medication status, analysis approaches, and the number of diffusion directions have an important impact on the findings, needing careful evaluation in future meta-analyses.
Anisotropy ; Brain/diagnostic imaging* ; Corpus Callosum ; Diffusion Tensor Imaging ; Humans ; Parkinson Disease/diagnostic imaging* ; White Matter/diagnostic imaging*

BACKGROUND: Patients with persistent vegetative state (PVS) show no evidence of awareness of self or their environment, and those with minimally conscious state (MCS) have severely impaired consciousness with minimal but definite behavioral evidence of self or environmental awareness after stroke. Neuroimaging and clinical characteristics separating these two close consciousness states after stroke were insufficiently studied. METHODS: We conducted a hospital-based cohort study of all patients with stroke (2011 to 2017) who underwent 3T magnetic resonance imaging and consciousness assessment after 3 months of inclusion. Univariate and multivariate regression analyses were used to estimate the relative risk of neuroimaging markers for differentiation of PVS and MCS. RESULTS: Of 3,600 eligible subjects, 323 patients (0.09%) had PVS and 93 (0.02%) had MCS (mean age, 62.25±13.4 years). Higher stroke volume was strongly associated with PVS compared to MCS (odds ratio [OR], 0.99; 95% confidence interval [CI], 0.98 to 1.00; P=0.001). On univariate analysis, cingulate gyrus (OR, 2.7; 95% CI, 1.62 to 4.36; P=0.001) and corpus callosum (OR, 2.1; 95% CI, 1.28 to 3.44; P=0.003) involvement was significantly associated with PVS. However, on multivariate analysis, only cingulate gyrus involvement was independently associated with PVS (OR, 2.2; 95% CI, 1.33 to 3.72; P=0.002). CONCLUSION: Our results indicate that PVS and MCS are different consciousness states according to clinical and neuroimaging findings. To predict outcome, cognitive performance of these patients should be well questioned after stroke.
Cognition Disorders ; Cohort Studies ; Consciousness ; Corpus Callosum ; Gyrus Cinguli ; Humans ; Magnetic Resonance Imaging ; Multivariate Analysis ; Neuroimaging ; Persistent Vegetative State ; Stroke Volume ; Stroke

The magnetic resonance imaging findings of multicystic encephalomalacia are featured by bilateral frontal large cystic lesion with corpus callosum involvement,evident heterogeneous enhancement of the lesion margin,ring hyperintensity on diffusion weighted imaging,and high choline peak and low N-acetylaspartate peak of the enhanced lesion margin on magnetic resonance spectroscopy.This article reports a case of multicystic encephalomalacia.
Corpus Callosum ; Encephalomalacia ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy

OBJECTIVE: This study examined the efficacy of the white matter (WM) to gray matter (GM) signal intensity ratio (SIR) in predicting the clinical prognosis of cardiac arrest patients. METHODS: Thirty-one patients who were resuscitated from cardiac arrest and underwent brain magnetic resonance imaging (MRI) were investigated retrospectively. Thirty one subjects with normal brain MRI findings served as the controls. The signal intensities (SI) were measured on T2-weighted image (T2WI). The circular regions of measurement (2–10 mm²) were placed over the regions of interest, and the average signals in GM and WM were recorded in the caudate nucleus (CN), putamen, anterior limb of the internal capsule, corpus callosum (CC), and in the cortex and WM of the frontal lobe. Cerebral performance category (CPC) 1–2 were classified as a good prognosis, and CPC 3–5 were classified as a poor prognosis. RESULTS: Most combinations of the SIR of WM to GM and most SIs of GM, except the frontal cortex, were significantly different between the two groups. On the other hand, the SI of WM was insignificant between both groups. In receiver operating characteristic (ROC) curve analysis, the SIR of the CC to CN had an area under the ROC curve (AUROC) of 1.00 for a cut-off value of 1.59 (sensitivity, 100%; specificity, 100%), the SIR of the CC to putamen had also an AUROC of 1.00 for a cut-off value of 1.43 (sensitivity, 100%; specificity, 100%). CONCLUSION: The SIR of WM to GM measured on a T2WI is related to the neurological outcome after a cardiac arrest.
Brain ; Caudate Nucleus ; Coma ; Corpus Callosum ; Extremities ; Frontal Lobe ; Gray Matter ; Hand ; Heart Arrest ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Prognosis ; Putamen ; Retrospective Studies ; ROC Curve ; Sensitivity and Specificity ; White Matter

No abstract available.
Corpus Callosum ; Hemorrhage ; Vasoconstriction

No abstract available.
Cerebral Infarction ; Corpus Callosum ; Endocarditis ; Humans ; Infarction

No abstract available.
Ammonium Compounds ; Corpus Callosum

BACKGROUND: We utilized diffusion tensor imaging (DTI) to evaluate the cerebral white matter changes that are associated with phantom limb pain in patients with unilateral arm amputation. It was anticipated that this would complement previous research in which we had shown that changes in cerebral blood volume were associated with the cerebral pain network. METHODS: Ten patients with phantom limb pain due to unilateral arm amputation and sixteen healthy age-matched controls were enrolled. The intensity of phantom limb pain was measured by the visual analogue scale (VAS) and depressive mood was assessed by the Hamilton depression rating scale. Diffusion tensor-derived parameters, including fractional anisotropy, mean diffusivity, axial diffusivity (AD), and radial diffusivity (RD), were computed from the DTI. RESULTS: Compared with controls, the cases had alterations in the cerebral white matter as a consequence of phantom limb pain, manifesting a higher AD of white matter in both hemispheres symmetrically after adjusting for individual depressive moods. In addition, there were associations between the RD of white matter and VAS scores primarily in the hemispheres related to the missing hand and in the corpus callosum. CONCLUSIONS: The phantom limb pain after unilateral arm amputation induced plasticity in the white matter. We conclude that loss of white matter integrity, particularly in the hemisphere connected with the missing hand, is significantly correlated with phantom limb pain.
Amputation ; Anisotropy ; Arm ; Blood Volume ; Brain ; Chronic Pain ; Complement System Proteins ; Corpus Callosum ; Depression ; Diffusion ; Diffusion Tensor Imaging ; Hand ; Humans ; Magnetic Resonance Imaging ; Neuronal Plasticity ; Phantom Limb ; Plastics ; White Matter

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ≤2 mg/L, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.
Acellular Dermis ; Agenesis of Corpus Callosum ; Aorta, Thoracic ; C-Reactive Protein ; Congenital Abnormalities ; Down Syndrome ; Ductus Arteriosus, Patent ; Early Intervention (Education) ; Head ; Heart Septal Defects, Ventricular ; Humans ; Infant ; Male ; Methods ; Negative-Pressure Wound Therapy ; Physical Examination ; Ribs ; Sternum ; Surgical Mesh ; Thoracic Surgery ; Wounds and Injuries