OBJECTIVE: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. METHODS: A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01). RESULTS: Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3). CONCLUSION The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Adult ; Brain/diagnostic imaging* ; Male ; Pedigree ; DNA Copy Number Variations/genetics* ; Exome Sequencing ; Genetic Association Studies ; Magnetic Resonance Imaging

Valacyclovir-associated neurotoxicity (VAN) is a recognized adverse effect in elderly patients with renal impairment but remains underdiagnosed due to its nonspecific presentation and overlap with acute neurologic emergencies. We report a 78-year-old Filipino female with end-stage renal disease on maintenance hemodialysis who developed acute disorientation, agitation, vivid visual hallucinations and generalized weakness shortly after initiation of valacyclovir for herpes zoster. Given the abrupt onset of neuropsychiatric symptoms, viral encephalitis was initially considered. Magnetic resonance imaging of the brain showed no evidence of acute infarction or encephalitis, while electroencephalography demonstrated diffuse generalized slowing consistent with an encephalopathic process. Review of the medication history revealed valacyclovir dosing that exceeded recommendations for patients with end-stage renal disease. Valacyclovir was discontinued and emergent hemodialysis was initiated resulting in marked improvement in sensorium after the second session and complete resolution of symptoms after the third. This case shows VAN as an important diagnostic mimic of acute encephalopathy in elderly patients with renal failure and emphasizes the critical role of early medication review in preventing unnecessary investigations and enabling prompt, reversible management.

OBJECTIVES: To qualitatively assess the diagnostic performance of dynamic contrast enhancement (DCE), diffusion-weighted imaging (DWI), and T2-weighted imaging (T2WI), alone or in combination, in the evaluation of breast cancer. METHODS: We retrospectively reviewed the records of 394 consecutive patients with pathologically confirmed breast lesions who had undergone 3-T magnetic resonance imaging (MRI). The morphological characteristics of breast lesions were evaluated using DCE, DWI, and T2WI based on BI-RADS lexicon descriptors by trained radiologists. Patients were categorized into mass and non-mass groups based on MRI characteristics of the lesions, and the differences between benign and malignant lesions in each group were compared. Clinical prediction models for breast cancer diagnosis were constructed using logistic regression analysis. Diagnostic efficacies were compared using the area under the receiver operating characteristic curve (AUC) and DeLong test. RESULTS: For mass-like lesions, all the morphological parameters significantly differentiated benign and malignant lesions on consensus DCE, DWI, and T2WI (P<0.05). The combined method (DCE+DWI+T2WI) had a higher AUC (0.865) than any of the individual modality (DCE: 0.786; DWI: 0.793; T2WI: 0.809) (P<0.05). For non-mass-like lesions, DWI signal intensity was a significant predictor of malignancy (P=0.036), but the model using DWI alone had a low AUC (0.669). CONCLUSIONS Morphological assessment using the combination of DCE, DWI, and T2WI provides better diagnostic value in differentiating benign and malignant breast mass-like lesions than assessment with only one of the modalities.
Humans ; Female ; Breast Neoplasms/pathology* ; Retrospective Studies ; Middle Aged ; Adult ; Diffusion Magnetic Resonance Imaging/methods* ; Aged ; Magnetic Resonance Imaging/methods* ; Young Adult ; Aged, 80 and over

OBJECTIVES: To investigate the associations between Tau protein deposition and brain biochemical metabolites detected by proton magnetic resonance spectroscopy (¹H-MRS) in patients with advanced Alzheimer's disease (AD). METHODS: From April, 2022 to December, 2024, 64 Tau-positive AD patients and 29 healthy individuals underwent ¹⁸F-APN-1607 PET/MR and simultaneously acquired multi-voxel ¹H-MRS in the Department of Nuclear Medicine, Nanjing First Hospital. Visual analysis and voxel-based analysis of PET/MR data were performed to investigate the Tau protein deposition patterns in AD patients. Valid voxels within the ¹H-MRS field of view were selected, and their standardized uptake value ratio (SUVr) in PET and metabolite levels of N-acetylaspartate (NAA), choline (Cho), creatine (Cr), NAA/Cr, and Cho/Cr were recorded. The Tau-positive (Tau⁺) voxels and Tau-negative (Tau^-) voxels of the AD patients were compared for PET and ¹H-MRS parameters, and the correlations between the metabolites and Tau PET SUVr within Tau⁺ voxels were analyzed. RESULTS: Significant Tau protein deposition were observed in the AD patients, involving mainly the bilateral frontal lobes (30.07%), parietal lobes (29.96%), temporal lobes (21.07%), and occipital lobes (15.89%). A total of 1422 valid voxels in AD group (including 994 Tau⁺ and 428 Tau^- voxels) and 814 voxels in the control group were selected. The AD patients showed significantly decreased NAA level and increased SUVr compared with the control group (P<0.05). Subgroup analyses revealed that Tau⁺ voxels had higher SUVr and lower Cr and Cho/Cr than Tau^- voxels (P<0.05). Compared with the control group, Tau⁺ voxels exhibited higher SUVr and lower Cr (P<0.05), while Tau^- voxels showed lower NAA (P=0.004). No significant differences were found in Cho or NAA/Cr among the subgroups (P>0.05). Within Tau⁺ voxels, NAA, Cho, and Cr were negatively correlated with SUVr (P<0.001). CONCLUSIONS The patients with progressive AD have significant Tau protein deposition in the brain, which is correlated with alterations in metabolite levels. Decreased NAA is more prominent in early or pre-tau deposition stages, while Cr changes is more significant in the regions with Tau protein deposition, suggesting the potential of NAA and Cr as biomarkers for Tau protein deposition in AD for disease monitoring and treatment evaluation.
Humans ; Alzheimer Disease/diagnostic imaging* ; Aspartic Acid/metabolism* ; tau Proteins/metabolism* ; Creatine/metabolism* ; Brain/metabolism* ; Biomarkers/metabolism* ; Positron-Emission Tomography ; Male ; Female ; Proton Magnetic Resonance Spectroscopy ; Choline/metabolism* ; Aged ; Middle Aged

OBJECTIVES: To evaluate the effect of artificial intelligence-assisted compressed sensing (ACS) acceleration on MRI radiomic feature extraction and performance of diagnostic staging models for nasopharyngeal carcinoma (NPC) in comparison with conventional parallel imaging (PI). METHODS: A total of 64 patients with newly diagnosed NPC underwent 3.0T MRI using axial T1-weighted (T1W), T2-weighted (T2W), and contrast-enhanced T1-weighted (CE-T1W) sequences. Both PI and ACS protocols were performed using identical imaging parameters. The total scan time for the 3 sequences in ACS group was 227 s, representing a 30% reduction from 312 s in the PI group. Eighteen first-order and 75 texture features were extracted using Pyradiomics. Intraclass correlation coefficients (ICCs) were calculated to assess the agreement between the two acceleration methods. After feature selection using the least absolute shrinkage and selection operator (LASSO), random forest regression models were constructed to distinguish early-stage (T1 and T2) from advanced-stage (T3 and T4) NPC. The diagnostic performance of the models was evaluated using the area under the receiver operating characteristic curve (AUC) and compared using the DeLong test. RESULTS: ACS-accelerated images demonstrated good radiomic reproducibility, with 86.0% (240/279) of features showing good agreement (ICC>0.75), with mean ICCs for T1W, T2W and CE-T1W sequences of 0.91±0.09, 0.89±0.13 and 0.88±0.11, respectively. The staging prediction models achieved similar AUCs for ACS and PI (0.89 vs 0.90, P=0.991). CONCLUSIONS The MRI radiomic features extracted using ACS and PI techniques are highly consistent, and the ACS-based model shows comparable diagnostic performance to the PI-based model, but ACS significantly reduces the scan time and provides an efficient and reliable acceleration strategy for radiomics in NPC.
Humans ; Nasopharyngeal Neoplasms/diagnosis* ; Magnetic Resonance Imaging/methods* ; Nasopharyngeal Carcinoma ; Neoplasm Staging ; Artificial Intelligence ; Carcinoma ; Female ; Male ; Middle Aged ; Adult ; Radiomics

This study explored how the human cortical folding pattern composed of convex gyri and concave sulci affected single-subject morphological brain networks, which are becoming an important method for studying the human brain connectome. We found that gyri-gyri networks exhibited higher morphological similarity, lower small-world parameters, and lower long-term test-retest reliability than sulci-sulci networks for cortical thickness- and gyrification index-based networks, while opposite patterns were observed for fractal dimension-based networks. Further behavioral association analysis revealed that gyri-gyri networks and connections between gyral and sulcal regions significantly explained inter-individual variance in Cognition and Motor domains for fractal dimension- and sulcal depth-based networks. Finally, the clinical application showed that only sulci-sulci networks exhibited morphological similarity reductions in major depressive disorder for cortical thickness-, fractal dimension-, and gyrification index-based networks. Taken together, these findings provide novel insights into the constraint of the cortical folding pattern to the network organization of the human brain.
Humans ; Cerebral Cortex/anatomy & histology* ; Male ; Female ; Magnetic Resonance Imaging ; Adult ; Connectome/methods* ; Young Adult ; Nerve Net/anatomy & histology* ; Neural Pathways ; Depressive Disorder, Major/diagnostic imaging*

The ability to localize sound sources rapidly allows human beings to efficiently understand the surrounding environment. Previous studies have suggested that there is an auditory "where" pathway in the cortex for processing sound locations. The neural activation in regions along this pathway encodes sound locations by opponent hemifield coding, in which each unilateral region is activated by sounds coming from the contralateral hemifield. However, it is still unclear how these regions interact with each other to form a unified representation of the auditory space. In the present study, we investigated whether functional connectivity in the auditory "where" pathway encoded sound locations during passive listening. Participants underwent functional magnetic resonance imaging while passively listening to sounds from five distinct horizontal locations (-90°, -45°, 0°, 45°, 90°). We were able to decode sound locations from the functional connectivity patterns of the "where" pathway. Furthermore, we found that such neural representation of sound locations was primarily based on the coding of sound lateralization angles to the frontal midline. In addition, whole-brain analysis indicated that functional connectivity between occipital regions and the primary auditory cortex also encoded sound locations by lateralization angles. Overall, our results reveal a lateralization-angle-based representation of sound locations encoded by functional connectivity patterns, which could add on the activation-based opponent hemifield coding to provide a more precise representation of the auditory space.
Humans ; Sound Localization/physiology* ; Male ; Female ; Magnetic Resonance Imaging ; Young Adult ; Functional Laterality/physiology* ; Adult ; Brain Mapping ; Auditory Cortex/physiology* ; Acoustic Stimulation ; Auditory Pathways/physiology* ; Brain/physiology*

The rich club, as a community of highly interconnected nodes, serves as the topological center of the network. However, the similarities and differences in how the rich club supports functional integration and segregation in the brain across different species remain unknown. In this study, we first detected and validated the rich club in the structural networks of mouse, monkey, and human brains using neuronal tracing or diffusion magnetic resonance imaging data. Further, we assessed the role of rich clubs in functional integration, segregation, and balance using quantitative metrics. Our results indicate that the presence of a rich club facilitates whole-brain functional integration in all three species, with the functional networks of higher species exhibiting greater integration. These findings are expected to help to understand the relationship between brain structure and function from the perspective of brain evolution.
Animals ; Humans ; Brain/diagnostic imaging* ; Mice ; Male ; Nerve Net/diagnostic imaging* ; Macaca ; Female ; Neural Pathways/diagnostic imaging* ; Magnetic Resonance Imaging ; Biological Evolution ; Adult ; Diffusion Magnetic Resonance Imaging ; Brain Mapping ; Species Specificity ; Mice, Inbred C57BL

Previous studies have identified two group-level processes, neural representations of interracial between-group difference and intraracial within-group similarity, that contribute to the racial categorization of faces. What remains unclear is how the brain tracks race-related information that varies across different faces as an individual-level neural process involved in race perception. In three studies, we recorded functional MRI signals when Chinese adults performed different tasks on morphed faces in which proportions of pixels contributing to perceived racial identity (Asian vs White) and expression (pain vs neutral) varied independently. We found that, during a pain expression judgment task, tracking other-race and same-race-related information in perceived faces recruited the ventral occipitotemporal cortices and medial prefrontal/anterior temporal cortices, respectively. However, neural tracking of race-related information tended to be weakened during explicit race judgments on perceived faces. During a donation task, the medial prefrontal activity also tracked race-related information that distinguished between two perceived faces for altruistic decision-making and encoded the Euclidean distance between the two faces that predicted decision-making speeds. Our findings revealed task-dependent neural mechanisms underlying the tracking of race-related information during face perception and altruistic decision-making.
Adult ; Female ; Humans ; Male ; Young Adult ; Brain/diagnostic imaging* ; Brain Mapping ; Decision Making/physiology* ; Facial Recognition/physiology* ; Judgment/physiology* ; Magnetic Resonance Imaging ; Photic Stimulation ; Racial Groups ; Social Perception ; East Asian People

In this study, we systematically tested the hypothesis that during the critical developmental period of adolescence, on a macro scale, the concentrations of major excitatory and inhibitory neurotransmitters (glutamate/glutamine and γ‑aminobutyric acid [GABA]) in the dorsal and ventral lateral prefrontal cortex are associated with the brain's functional connectivity and an individual's psychopathology. Neurotransmitters were measured via magnetic resonance spectroscopy while functional connectivity was measured with resting-state fMRI (n = 121). Seed-based and network-based analyses revealed associations of neurotransmitter concentrations and functional connectivities between regions/networks that are connected to prefrontal cortices via structural connections that are thought to be under dynamic development during adolescence. These regions tend to be boundary areas between functional networks. Furthermore, several connectivities were found to be associated with individual's levels of internalizing psychopathology. These findings provide insights into specific neurochemical mechanisms underlying the brain's macroscale functional organization, its development during adolescence, and its potential associations with symptoms associated with internalizing psychopathology.
Humans ; Adolescent ; Glutamic Acid/metabolism* ; Prefrontal Cortex/diagnostic imaging* ; Male ; Glutamine/metabolism* ; Female ; gamma-Aminobutyric Acid/metabolism* ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Nerve Net/metabolism* ; Neural Pathways ; Connectome