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18 pages, 1209 KB  
Article
Comprehensive Morphometric MRI Assessment in Children with Breath-Holding Spells: Integration of Automated (Vol2Brain) and Semi-Automated (3D Slicer) Segmentation Methods
by Adil Aytaç and Hilal Aydın
Tomography 2026, 12(2), 21; https://doi.org/10.3390/tomography12020021 - 6 Feb 2026
Viewed by 330
Abstract
Objectives: To evaluate regional anatomical differences in brain volume, surface area, and cortical thickness between children with breath-holding spells (BHSs) and a control group using morphometric MRI analyses. Methods: Three-dimensional T1-weighted cranial MRI data from 48 children with BHSs and 50 control children [...] Read more.
Objectives: To evaluate regional anatomical differences in brain volume, surface area, and cortical thickness between children with breath-holding spells (BHSs) and a control group using morphometric MRI analyses. Methods: Three-dimensional T1-weighted cranial MRI data from 48 children with BHSs and 50 control children were retrospectively analyzed, yielding volumetric, surface area, and cortical thickness measures for 135 brain regions. All measurements were assessed relative to total intracranial volume (ICV). Group comparisons were performed using analysis of covariance with age, sex, and ICV as covariates, followed by Benjamini–Hochberg false discovery rate correction (q < 0.05). Results: The BHS group exhibited reduced bilateral amygdala volumes (left: q = 0.042; right: q = 0.038). Both cortical thickness and volume were reduced in the right anterior insula (thickness: q = 0.046; volume: q = 0.049). In addition, cortical thickness was reduced in the bilateral anterior cingulate cortices (left: p = 0.019, q = 0.045; right: p = 0.017, q = 0.043) as well as in the right medial frontal cortex (p = 0.009, q = 0.036). Subregional cerebellar analysis demonstrated volume reductions in the right lobule VI (q = 0.031), left lobule VIIA (Crus I) (q = 0.043), and vermis IX–X (q = 0.039). Conclusions: Detecting measurable morphometric changes in brain regions involved in autonomic and emotional regulation in children with BHSs will contribute to understanding the neurobiological characteristics associated with BHSs. Full article
(This article belongs to the Section Neuroimaging)
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13 pages, 2412 KB  
Article
AI-Based Brain Volumetry Without MPRAGE? Evaluation of Synthetic T1-MPRAGE from 2D T2/FLAIR
by Ludwig Singer, Tim Alexius Möhle, Angelika Mennecke, Konstantin Huhn, Veit Rothhammer, Manuel Alexander Schmidt, Arnd Doerfler and Stefan Lang
Diagnostics 2026, 16(2), 317; https://doi.org/10.3390/diagnostics16020317 - 19 Jan 2026
Viewed by 300
Abstract
Background: Automated AI-based brain volumetry is increasingly used in clinical practice. T1-weighted sequences (e.g., MPRAGE) are considered the current state-of-the art. However, due to faster acquisition and higher in-plane resolution, 2D anisotropic sequences are often preferred in clinical routine. However, these sequences [...] Read more.
Background: Automated AI-based brain volumetry is increasingly used in clinical practice. T1-weighted sequences (e.g., MPRAGE) are considered the current state-of-the art. However, due to faster acquisition and higher in-plane resolution, 2D anisotropic sequences are often preferred in clinical routine. However, these sequences cannot be processed with currently available AI-volumetry software. Thus, we here aimed to evaluate volumetric data from synthetic MPRAGE-like sequences (mprAIge). Methods: We analyzed 412 datasets (206 conventional MPRAGE and 206 T2w/FLAIR) from healthy volunteers (n = 36) and patients with multiple sclerosis (n = 140). Synthetic mprAIge was generated using SynthSR-CNN and assessed via assemblyNET on the volBrain platform. Total brain volume (TBV), gray and white matter volume (GMV/WMV), and key substructures were compared between mprAIge and conventional MPRAGE. Average volume differences (AVDs) and correlations were calculated. Results: Synthetic mprAIge was generated successfully in all 206 cases. Quantitative analysis demonstrated strong correlation and high agreement for key substructures. TBV showed excellent agreement (AVD: 2.75% for controls, 3.90% for MS patients; r = 0.99 and 0.97, respectively). White matter volume exhibited excellent agreement (AVD: −1.92% for controls, 0.28% for MS patients; r = 0.95). Hippocampal volume also demonstrated good to excellent agreement (AVD: 1.13% for controls, −1.92% for MS patients; r = 0.91 and 0.89, respectively). Conclusions: Synthetic mprAIge enables AI-volumetry software application without limitations. Its volumetric assessments align well with conventional MPRAGE, opening new opportunities for volumetric post-processing and mapping of disease progression. Full article
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20 pages, 1020 KB  
Article
Brain Volume Alterations and Cognitive Functions in Patients with Common Variable Immunodeficiency: Evaluating the Impact of Autoimmunity
by Filiz Sadi Aykan, Duygu Akın Saygın, Fatih Çölkesen, Necdet Poyraz, Recep Evcen, Mehmet Kılınç, Eray Yıldız, Tuğba Önalan, Fatma Arzu Akkuş, Elif Erat Çelik, Cemile Buket Tuğan Yıldız, Ganime Dilek Emlik and Şevket Arslan
J. Clin. Med. 2026, 15(2), 503; https://doi.org/10.3390/jcm15020503 - 8 Jan 2026
Viewed by 501
Abstract
Background: Common variable immunodeficiency is a heterogeneous disorder characterized by defects in antibody production and immune dysregulation, associated with infections and autoimmunity. Although structural and cognitive effects of CVID on the central nervous system have attracted attention in recent years, studies jointly addressing [...] Read more.
Background: Common variable immunodeficiency is a heterogeneous disorder characterized by defects in antibody production and immune dysregulation, associated with infections and autoimmunity. Although structural and cognitive effects of CVID on the central nervous system have attracted attention in recent years, studies jointly addressing volumetric brain imaging and neurocognitive evaluation remain limited. Materials and Methods: In this retrospective cross-sectional study, 35 patients with common variable immunodeficiency and 40 age- and sex-matched healthy controls were evaluated. Cognitive performance was assessed in all participants using the Montreal Cognitive Assessment. High-resolution T1-weighted brain magnetic resonance imaging scans underwent automated segmentation using the volBrain platform, yielding quantitative volumetric measurements of cortical, subcortical, and cerebellar structures, as well as ventricles and cerebrospinal fluid. Intergroup comparisons were performed using independent t-tests and analysis of variance. Results: MoCA scores were significantly lower in patients with CVID. Volumetric analysis revealed prominent reductions in the volumes of total brain tissue, gray matter, cerebrum, cerebellum, limbic system, thalamus, and basal ganglia. Paralleling these findings, cerebrospinal fluid and lateral ventricle volumes were increased. Additional volume losses were detected in CVID patients with low MoCA scores. In CVID patients with autoimmunity, volume loss affected broader areas. Conclusions: CVID appears to be associated with structural brain changes and cognitive impairments. Chronic inflammation and immune dysregulation may contribute to these neurodegenerative processes. Regular neurocognitive monitoring and further prospective studies are warranted in patients with CVID. Full article
(This article belongs to the Section Immunology & Rheumatology)
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14 pages, 642 KB  
Article
Cerebrospinal Fluid Volume and Other Intracranial Volumes Are Associated with Fazekas Score in Adults: A Single Center Experience
by Melike Elif Kalfaoglu, Zeliha Cosgun, Aysenur Buz Yasar, Abdullah Emre Sarioglu and Gulali Aktas
Medicina 2025, 61(8), 1411; https://doi.org/10.3390/medicina61081411 - 4 Aug 2025
Cited by 1 | Viewed by 1299
Abstract
Background and Objectives: The objective of this research is to make a comparative evaluation of the correlation between the volumetric examination of subcortical cerebral regions and white matter hyperintensities classified according to the Fazekas scoring system. Materials and Methods: A total [...] Read more.
Background and Objectives: The objective of this research is to make a comparative evaluation of the correlation between the volumetric examination of subcortical cerebral regions and white matter hyperintensities classified according to the Fazekas scoring system. Materials and Methods: A total of 236 cases with cranial MRI studies were retrospectively analyzed. This study included patients aged over 45 years who had white matter hyperintensities and who did not have a prior stroke diagnosis. White matter hyperintensities were evaluated in axial FLAIR images according to Fazekas’s grading scale. Patients with Fazekas 0 and 1 were grouped in group 1 and the patients with Fazekas 2 and 3 were grouped in group 2. MRI data processing and subcortical volumetric analyses were performed using the volBrain MRI brain volumetry system. Results: There were statistically significant differences between groups 1 and 2 in terms of cerebrospinal fluid total brain white and gray matter (p < 0.001), total brain white and gray matter (p = 0.009), total cerebrum (p < 0.001), accumbens (p < 0.001), thalamus (p < 0.001), frontal lobe (p < 0.001), parietal lobe (p < 0.001), and lateral ventricle (p < 0.001) volumes. Conclusions: Our study finds a strong link between white matter hyperintensity burden and brain atrophy. This includes volume reductions in total brain white and gray matter, frontal and parietal lobe atrophy, increased cerebrospinal fluid (CSF), and atrophy in specific brain regions such as the accumbens and thalamus. Full article
(This article belongs to the Special Issue Magnetic Resonance in Various Diseases and Biomedical Applications)
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11 pages, 487 KB  
Article
The Effects of Active Methamphetamine Use Disorder and Regular Sports Activities on Brain Volume in Adolescents
by Hüseyin Yiğit, Hatice Güler, Zekeriya Temircan, Abdulkerim Gökoğlu, İzzet Ökçesiz, Müge Artar, Halil Dönmez, Erdoğan Unur and Halil Yılmaz
J. Clin. Med. 2025, 14(15), 5212; https://doi.org/10.3390/jcm14155212 - 23 Jul 2025
Cited by 1 | Viewed by 2255
Abstract
Objectives: Methamphetamine (MA) abuse during adolescence can have a significant impact on brain development. On the other hand, regular exercise is known to promote brain health and may have neuroprotective effects. The purpose of this study is to compare brain volumes in three [...] Read more.
Objectives: Methamphetamine (MA) abuse during adolescence can have a significant impact on brain development. On the other hand, regular exercise is known to promote brain health and may have neuroprotective effects. The purpose of this study is to compare brain volumes in three different adolescent groups: those with active methamphetamine use disorder (MUD), adolescent athletes who regularly exercise, and healthy control adolescents. Methods: This MRI study involved three groups of adolescents: 10 with active MUD (9 males, 1 female), nine licensed runner adolescents (three males, six females), and 10 healthy adolescents (5 males, 5 females). Brain volumes were analyzed using T1-weighted images from a 3.0 Tesla MRI scanner, and then segmented automatically with vol2Brain. Statistical analyses included ANCOVA with sex as a covariate and LSD post hoc tests performed using SPSS Statistics 23. Results: Adolescents with MUD showed a 10% increase in total white matter volume compared to the athlete group. Conversely, cortical gray matter volume was reduced by 4% compared to the healthy control group and by 7% compared to the athlete group. The frontal and insular cortices in the MUD group had significantly diminished volumes compared to the athlete group. Overall, individuals with MUD had decreased gray matter volumes and increased white matter volumes in their brains. The brain volumetric differences between the MUD group and the athlete group were statistically significant. Conclusions: The brains of those with MUD displayed a reduction in gray matter volume and an increase in white matter volume, indicating damage from MA on the developing adolescent brain. The volumetric disparities between the MUD and athlete groups were found to be significantly different, suggesting a possible neuroprotective factor of exercise. Further studies are required to explore the potential of exercise-based interventions in alleviating the harmful effects of MA abuse. Full article
(This article belongs to the Section Sports Medicine)
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22 pages, 3921 KB  
Article
A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis
by Connor J. Lewis, Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar, Anna Luisa Kühn, Ahmet Peker, Zubir S. Rentiya, Muhammad H. Yousef, William A. Gahl, Mohammed Salman Shazeeb, Cynthia J. Tifft and Maria T. Acosta
NeuroSci 2025, 6(2), 31; https://doi.org/10.3390/neurosci6020031 - 3 Apr 2025
Cited by 2 | Viewed by 2209
Abstract
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible results. However, since these analysis pipelines were trained on or run based [...] Read more.
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible results. However, since these analysis pipelines were trained on or run based on atlases consisting of neurotypical controls, it is important to evaluate how accurate these methods are for neurodegenerative diseases. In this study, we compared five fully automated segmentation pipelines, including FSL, Freesurfer, volBrain, SPM12, and SimNIBS, with a manual segmentation process in GM1 gangliosidosis patients and neurotypical controls. Methods: We analyzed 45 MRI scans from 16 juvenile GM1 gangliosidosis patients, 11 MRI scans from 8 late-infantile GM1 gangliosidosis patients, and 19 MRI scans from 11 neurotypical controls. We compared the results for seven brain structures, including volumes of the total brain, bilateral thalamus, ventricles, bilateral caudate nucleus, bilateral lentiform nucleus, corpus callosum, and cerebellum. Results: We found volBrain’s vol2Brain pipeline to have the strongest correlations with the manual segmentation process for the whole brain, ventricles, and thalamus. We also found Freesurfer’s recon-all pipeline to have the strongest correlations with the manual segmentation process for the caudate nucleus. For the cerebellum, we found a combination of volBrain’s vol2Brain and SimNIBS’ headreco to have the strongest correlations, depending on the cohort. For the lentiform nucleus, we found a combination of recon-all and FSL’s FIRST to give the strongest correlations, depending on the cohort. Lastly, we found segmentation of the corpus callosum to be highly variable. Conclusions: Previous studies have considered automated segmentation techniques to be unreliable, particularly in neurodegenerative diseases. However, in our study, we produced results comparable to those obtained with a manual segmentation process. While manual segmentation processes conducted by neuroradiologists remain the gold standard, we present evidence to the capabilities and advantages of using an automated process that includes the ability to segment white matter throughout the brain or analyze large datasets, which pose feasibility issues to fully manual processes. Future investigations should consider the use of artificial intelligence-based segmentation pipelines to determine their accuracy in GM1 gangliosidosis, lysosomal storage disorders, and other neurodegenerative diseases. Full article
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18 pages, 2464 KB  
Article
Reduction in Brain Parenchymal Volume Correlates with Depression and Cognitive Decline in HIV-Positive Males
by Radmila Perić, Duško Kozić, Snežana Brkić, Dajana Lendak, Jelena Ostojić, Vojislava Bugarski Ignjatović and Jasmina Boban
Medicina 2025, 61(4), 632; https://doi.org/10.3390/medicina61040632 - 30 Mar 2025
Viewed by 1230
Abstract
Background and Objectives: Human immunodeficiency virus (HIV) has a profound impact on the central nervous system (CNS), contributing to cognitive impairment and depressive symptoms even in individuals receiving combination antiretroviral therapy (cART). This study aimed to investigate the associations between brain parenchymal [...] Read more.
Background and Objectives: Human immunodeficiency virus (HIV) has a profound impact on the central nervous system (CNS), contributing to cognitive impairment and depressive symptoms even in individuals receiving combination antiretroviral therapy (cART). This study aimed to investigate the associations between brain parenchymal volumes and neuropsychological outcomes, specifically focusing on cognitive function and depressive symptoms in HIV-positive males. Materials and Methods: A total of 48 male participants underwent cognitive assessment using the Mini-Mental State Examination (MMSE), while depressive symptoms were evaluated in 35 participants using the Beck Depression Inventory (BDI). Volumetric brain analysis was conducted through automated imaging software, volBrain (Version 1.0, published on 23 November 2021), ensuring high consistency and accuracy. Statistical analyses included Pearson correlation to identify relationships between brain volumes and neuropsychological outcomes, emphasizing key regions like the basal forebrain and cingulate gyrus. Results: Significant trends were observed between basal forebrain volume and MMSE scores, emphasizing the role of this region in cognitive regulation. Additional correlations were found with the anterior and middle cingulate gyri, which are crucial for executive functioning and attentional control. Notably, smaller right basal forebrain volumes were associated with greater depressive symptom severity, suggesting the region’s specific involvement in mood regulation. These findings highlight the dual impact of HIV on cognitive and emotional health, with structural vulnerabilities in key brain regions playing a central role. Conclusions: This study underscores the selective vulnerability of certain brain regions, such as the basal forebrain and cingulate gyrus, to HIV-associated neurodegeneration. The results highlight the importance of integrating neuroimaging and neuropsychological assessments in routine clinical care for HIV-positive individuals. The study emphasizes the importance of early detection and targeted interventions to address neuropsychological challenges in this population, with a call for further research in larger and more diverse cohorts. Full article
(This article belongs to the Section Neurology)
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13 pages, 1234 KB  
Article
Measurement of Limbic System Anatomical Volumes in Patients Diagnosed with Schizophrenia Using Vol2brain and Comparison with Healthy Individuals
by Mert Ocak and Buket Oguz
Medicina 2025, 61(3), 525; https://doi.org/10.3390/medicina61030525 - 17 Mar 2025
Cited by 2 | Viewed by 1863
Abstract
Background and Objectives: Schizophrenia is a chronic psychiatric disorder affecting approximately 24 million people worldwide, characterized by structural and functional brain abnormalities. Despite its prevalence, automated segmentation tools like Vol2Brain have been underutilized in large-sample studies examining limbic system anatomical volumes in [...] Read more.
Background and Objectives: Schizophrenia is a chronic psychiatric disorder affecting approximately 24 million people worldwide, characterized by structural and functional brain abnormalities. Despite its prevalence, automated segmentation tools like Vol2Brain have been underutilized in large-sample studies examining limbic system anatomical volumes in patients with schizophrenia. This study aimed to assess volume differences in all major limbic system structures between schizophrenia patients and healthy controls using Vol2Brain. Method: This retrospective study included 68 schizophrenia patients and 68 healthy controls, with MRI scans obtained from OpenNeuro. Limbic system volumetric and cortical thickness measurements were conducted using Vol2Brain, an automated segmentation platform. Results: Schizophrenia patients exhibited significantly reduced volumes in the amygdala, hippocampus, anterior cingulate gyrus, posterior cingulate gyrus, and middle cingulate gyrus compared to controls. However, the left amygdala volume was larger in schizophrenia patients. A cortical thickness analysis revealed that schizophrenia patients had thinner limbic cortices, particularly in the anterior and posterior cingulate gyri and the right parahippocampal gyrus. In contrast, the right anterior cingulate gyrus was thicker in schizophrenia patients. The differences in total and left parahippocampal gyrus volumes and cortical thickness did not reach statistical significance. Conclusions: These findings reinforce previous evidence of limbic system abnormalities in patients with schizophrenia, which may contribute to cognitive and emotional dysregulation. The study also highlights Vol2Brain’s potential as a rapid, cost-free, and reliable alternative for brain volume analysis, facilitating more standardized and reproducible neuroimaging assessments in psychiatric research. Full article
(This article belongs to the Section Neurology)
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19 pages, 9714 KB  
Article
MRI Voxel Morphometry Shows Brain Volume Changes in Breast Cancer Survivors: Implications for Treatment
by Alexandra Nikolaeva, Maria Pospelova, Varvara Krasnikova, Albina Makhanova, Samvel Tonyan, Aleksandr Efimtsev, Anatoliy Levchuk, Gennadiy Trufanov, Mark Voynov, Matvey Sklyarenko, Konstantin Samochernykh, Tatyana Alekseeva, Stephanie E. Combs and Maxim Shevtsov
Pathophysiology 2025, 32(1), 11; https://doi.org/10.3390/pathophysiology32010011 - 12 Mar 2025
Cited by 3 | Viewed by 2432
Abstract
Chemotherapy-related cognitive impairment termed «chemobrain» is a prevalent complication in breast cancer survivors that requires early detection for the development of novel therapeutic approaches. Magnetic resonance voxel morphometry (MR morphometry), due to its high sensitivity, might be employed for the evaluation of the [...] Read more.
Chemotherapy-related cognitive impairment termed «chemobrain» is a prevalent complication in breast cancer survivors that requires early detection for the development of novel therapeutic approaches. Magnetic resonance voxel morphometry (MR morphometry), due to its high sensitivity, might be employed for the evaluation of the early changes in the volumes of brain structures in order to explore the «chemobrain» condition. Methods: The open, prospective, single-center study enrolled 86 breast cancer survivors (43.3 ± 4.4 years) and age-matched 28 healthy female volunteers (44.0 ± 5.68). Conventional MR sequences (T1- and T2-weighted, TIRM, DWI, MPRAGE) were obtained in three mutually perpendicular planes to exclude an organ pathology of the brain. Additionally, the MPRAGE sequence was performed for subsequent MR morphometry of the volume of brain structures using the open VolBrain program. The evaluation was performed at two follow-up visits 6 months and 3 years after the completion of BC treatment. Results: According to the MR morphometry, breast cancer survivors presented with significantly decreased volumes of brain structures (including total brain volume, cerebellum volume, subcortical gray matter, etc.) as compared to healthy volunteers. Evaluation over the follow-up period of 3 years did not show the restoration of brain volume structures. Conclusions: The data obtained employing MR morphometry revealed significant reductions (that were not detected on the conventional MR sequences) in both gray and white matter in breast cancer survivors following chemotherapy. This comprehensive analysis indicated the utility of MR morphometry in detecting subtle yet statistically significant neuroanatomical changes associated with cognitive and motor impairments in patients, which can in turn provide valuable insights into the extent of structural brain alterations, helping to identify specific regions that are most affected by treatment. Full article
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18 pages, 13354 KB  
Article
Morphometric Analysis of Neocortical and Infratentorial Structures: Genetic and Environmental Insights from a Twin Neuroanatomical Study
by Amirreza Alijanpourotaghsara, Arsalan Vessal, Amirmasoud Alijanpour, David Strelnikov, Marton Piroska, Aliz Persely, Zsofia Jokkel, Laszlo Szalontai, Bianka Forgo, Lajos Rudolf Kozak, Adam Bekesy-Szabo, Pal Maurovich-Horvat, David Laszlo Tarnoki and Adam Domonkos Tarnoki
Medicina 2025, 61(2), 261; https://doi.org/10.3390/medicina61020261 - 4 Feb 2025
Viewed by 1472
Abstract
Background and Objective: Brain morphometry is shaped by a complex interplay of genetic and environmental factors, including physiological and neuropsychiatric conditions. These influences can vary across distinct brain regions, yet the precise contributions of genetics and environment to regional variation in healthy brains [...] Read more.
Background and Objective: Brain morphometry is shaped by a complex interplay of genetic and environmental factors, including physiological and neuropsychiatric conditions. These influences can vary across distinct brain regions, yet the precise contributions of genetics and environment to regional variation in healthy brains remain poorly understood. This study examines the heritability of specific brain structures to provide deeper insights into their development. Materials and Methods: We studied 118 healthy adult twins from the Hungarian Twin Registry using T1-weighted magnetic resonance imaging (T1W MRI) and the volBrain pipeline for structural measurements. Results: In all regions, monozygotic (MZ) twins showed a higher resemblance than dizygotic (DZ) twins in total brainstem and cerebellar volumes, with significant heritability (A: 90.5–92.6%) and minimal unique environmental effects (E: <1%). For supratentorial regions, regarding the total gray matter volume, all regions exhibited high heritability (A: 74.5–92.4%) and minimal environmental influence (E: <1.5%). In average cortical thickness analysis, the frontal lobe, temporal lobe, and pre-central gyrus were influenced by shared and unique environmental factors (C: 63–66.5%; E: 33.4–37%), whereas genetics were more prominent in the parietal lobe, occipital lobe, and post-central gyrus (A: 67.7–85%; E: 15–32.3%). Conclusions: Genetics strongly influence cortical gray matter volume in supratentorial regions (both total and regional), as well as the total brainstem volume and the total and cortical gray matter volumes of the cerebellum in infratentorial regions. This genetic influence extends to the average cortical thickness of the parietal lobe, post-central gyrus, and occipital lobe, while the frontal lobe, temporal lobe, and pre-central gyrus are more affected by environmental factors. These findings emphasize the importance of understanding region-specific genetic and environmental contributions to brain structure, which could guide personalized therapeutic and preventive strategies for neurological conditions. Full article
(This article belongs to the Section Genetics and Molecular Medicine)
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11 pages, 681 KB  
Article
Volumetric Analysis of Motor Cortex and Basal Ganglia in Pediatric Celiac Disease Patients Using volBrain: Implications for Neurological Dysfunction-Preliminary Results
by Filip Murn, Lana Loncar, Jasna Lenicek Krleza, Goran Roic, Iva Hojsak, Zrinjka Misak and Ana Tripalo Batos
Diagnostics 2024, 14(22), 2559; https://doi.org/10.3390/diagnostics14222559 - 14 Nov 2024
Viewed by 1390
Abstract
Background/Objectives: Celiac disease (CD) is a common immune-mediated, chronic systemic disorder that is treated with a strict, life-long gluten-free diet (GFD). In addition to gastrointestinal manifestations, CD also presents with a variety of extraintestinal symptoms, including significant neurological and neuropsychiatric symptoms. Among these [...] Read more.
Background/Objectives: Celiac disease (CD) is a common immune-mediated, chronic systemic disorder that is treated with a strict, life-long gluten-free diet (GFD). In addition to gastrointestinal manifestations, CD also presents with a variety of extraintestinal symptoms, including significant neurological and neuropsychiatric symptoms. Among these neurological manifestations, motor dysfunctions are particularly notable. The aim of this study is to investigate the potential volumetric differences in brain structures, particularly the motor cortex and basal ganglia, between pediatric CD patients and healthy controls using the volBrain software AssemblyNet version 1.0. Methods: This prospective study included pediatric patients with CD who complained of neurological symptoms and were scheduled for brain magnetic resonance imaging (MRI). All children had been previously diagnosed with CD and their adherence to GFD was evaluated using the Biagi score. Brain MRIs were performed on all included patients to obtain volumetry at the onset of the disease. For volumetric and segmentation data, the volBrain software was used. Results: In total, 12 pediatric patients with CD were included, with a median duration of a GFD of 5.3 years at the time of the MRI examination. There were no statistically significant differences between patients compliant with the GFD and those non-compliant in terms of age or duration of GFD. Volumetric analysis revealed deviations in all patients analyzed, which involved either a decrease or increase in the volume of the structures studied. Conclusion: Despite the limited number of patients in this study, the initial findings support previously described neurological manifestations in patients with CD. Newly developed MRI tools have the potential to enable a more detailed analysis of disease progression and its impact on the motor cortex. Full article
(This article belongs to the Special Issue Recent Advances in Pediatric Laboratory Medicine)
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14 pages, 4201 KB  
Article
Heritability of Subcortical Grey Matter Structures
by David Strelnikov, Amirreza Alijanpourotaghsara, Marton Piroska, Laszlo Szalontai, Bianka Forgo, Zsofia Jokkel, Alíz Persely, Anita Hernyes, Lajos Rudolf Kozak, Adam Szabo, Pal Maurovich-Horvat, David Laszlo Tarnoki and Adam Domonkos Tarnoki
Medicina 2022, 58(11), 1687; https://doi.org/10.3390/medicina58111687 - 21 Nov 2022
Cited by 5 | Viewed by 5232
Abstract
Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine [...] Read more.
Background and Objectives: Subcortical grey matter structures play essential roles in cognitive, affective, social, and motoric functions in humans. Their volume changes with age, and decreased volumes have been linked with many neuropsychiatric disorders. The aim of our study was to examine the heritability of six subcortical brain volumes (the amygdala, caudate nucleus, pallidum, putamen, thalamus, and nucleus accumbens) and four general brain volumes (the total intra-cranial volume and the grey matter, white matter, and cerebrospinal fluid (CSF) volume) in twins. Materials and Methods: A total of 118 healthy adult twins from the Hungarian Twin Registry (86 monozygotic and 32 dizygotic; median age 50 ± 27 years) underwent brain magnetic resonance imaging. Two automated volumetry pipelines, Computational Anatomy Toolbox 12 (CAT12) and volBrain, were used to calculate the subcortical and general brain volumes from three-dimensional T1-weighted images. Age- and sex-adjusted monozygotic and dizygotic intra-pair correlations were calculated, and the univariate ACE model was applied. Pearson’s correlation test was used to compare the results obtained by the two pipelines. Results: The age- and sex-adjusted heritability estimates, using CAT12 for the amygdala, caudate nucleus, pallidum, putamen, and nucleus accumbens, were between 0.75 and 0.95. The thalamus volume was more strongly influenced by common environmental factors (C = 0.45−0.73). The heritability estimates, using volBrain, were between 0.69 and 0.92 for the nucleus accumbens, pallidum, putamen, right amygdala, and caudate nucleus. The left amygdala and thalamus were more strongly influenced by common environmental factors (C = 0.72−0.85). A strong correlation between CAT12 and volBrain (r = 0.74−0.94) was obtained for all volumes. Conclusions: The majority of examined subcortical volumes appeared to be strongly heritable. The thalamus was more strongly influenced by common environmental factors when investigated with both segmentation methods. Our results underline the importance of identifying the relevant genes responsible for variations in the subcortical structure volume and associated diseases. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
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11 pages, 968 KB  
Article
Genetic and Environmental Effects on the Development of White Matter Hyperintensities in a Middle Age Twin Population
by Amirreza Alijanpourotaghsara, David Strelnikov, Marton Piroska, Laszlo Szalontai, Bianka Forgo, Zsofia Jokkel, Alíz Persely, Anita Hernyes, Lajos Rudolf Kozak, Adam Szabo, Pal Maurovich-Horvat, Adam Domonkos Tarnoki and David Laszlo Tarnoki
Medicina 2022, 58(10), 1425; https://doi.org/10.3390/medicina58101425 - 10 Oct 2022
Cited by 3 | Viewed by 3056
Abstract
Introduction: White matter hyperintensities (WMH) indicate white matter brain lesions in magnetic resonance imaging (MRI), which can be used as a marker for brain aging and cerebrovascular and neurodegenerative disorders. Twin studies revealed substantial but not uniform WMH heritability in elderly twins. The [...] Read more.
Introduction: White matter hyperintensities (WMH) indicate white matter brain lesions in magnetic resonance imaging (MRI), which can be used as a marker for brain aging and cerebrovascular and neurodegenerative disorders. Twin studies revealed substantial but not uniform WMH heritability in elderly twins. The objective of our study was to investigate the genetic and environmental components of WMH, as well as their importance in a healthy twin population, utilizing 3T MRI scanners in a middle-aged twin population. Methods: Brain MRI was performed on 120 healthy adult twins from the Hungarian Twin Registry on a 3T scanner (86 monozygotic, MZ and 34 dizygotic, DZ twins; median age 50 ± 26.5 years, 72.5% female and 27.5% male). The count of WMH on FLAIR images was calculated using an automated volumetry pipeline (volBrain) and human processing. The age- and sex-adjusted MZ and DZ intra-pair correlations were determined and the total variance was decomposed into genetic, shared and unique environmental components using structural equation modeling. Results: Age and sex-adjusted MZ intrapair correlations were higher than DZ correlations, indicating moderate genetic influence in each lesion (rMZ = 0.466, rDZ = −0.025 for total count; rMZ = 0.482, rDZ = 0.093 for deep white matter count; rMZ = 0.739, rDZ = 0.39 for infratentorial count; rMZ = 0.573, rDZ = 0.372 for cerebellar count and rMZ = 0.473, rDZ = 0.19 for periventricular count), indicating a moderate heritability (A = 40.3%, A = 45%, A = 72.7% and A = 55.5%and 47.2%, respectively). The rest of the variance was influenced by unique environmental effects (E between 27.3% and 59.7%, respectively). Conclusions: The number of WMH lesions is moderately influenced by genetic effects, particularly in the infratentorial region in middle-aged twins. These results suggest that the distribution of WMH in various brain regions is heterogeneous. Full article
(This article belongs to the Special Issue Twin Studies and Imaging)
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15 pages, 3413 KB  
Article
Epilepsy in Pediatric Patients—Evaluation of Brain Structures’ Volume Using VolBrain Software
by Magdalena Maria Woźniak, Monika Zbroja, Małgorzata Matuszek, Olga Pustelniak, Weronika Cyranka, Katarzyna Drelich, Ewa Kopyto, Andrzej Materniak, Tomasz Słomka, Maciej Cebula and Agnieszka Brodzisz
J. Clin. Med. 2022, 11(16), 4657; https://doi.org/10.3390/jcm11164657 - 9 Aug 2022
Cited by 19 | Viewed by 4075
Abstract
Epilepsy is one of the most frequent serious brain disorders. Approximately 30,000 of the 150,000 children and adolescents who experience unprovoked seizures are diagnosed with epilepsy each year. Magnetic resonance imaging is the method of choice in diagnosing and monitoring patients with this [...] Read more.
Epilepsy is one of the most frequent serious brain disorders. Approximately 30,000 of the 150,000 children and adolescents who experience unprovoked seizures are diagnosed with epilepsy each year. Magnetic resonance imaging is the method of choice in diagnosing and monitoring patients with this condition. However, one very effective tool using MR images is volBrain software, which automatically generates information about the volume of brain structures. A total of 57 consecutive patients (study group) suffering from epilepsy and 34 healthy patients (control group) who underwent MR examination qualified for the study. Images were then evaluated by volBrain. Results showed atrophy of the brain and particular structures—GM, cerebrum, cerebellum, brainstem, putamen, thalamus, hippocampus and nucleus accumbens volume. Moreover, the statistically significant difference in the volume between the study and the control group was found for brain, lateral ventricle and putamen. A volumetric analysis of the CNS in children with epilepsy confirms a decrease in the volume of brain tissue. A volumetric assessment of brain structures based on MR data has the potential to be a useful diagnostic tool in children with epilepsy and can be implemented in clinical work; however, further studies are necessary to enhance the effectiveness of this software. Full article
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10 pages, 1114 KB  
Article
Phase Lag Entropy as a Surrogate Measurement of Hypnotic Depth during Sevoflurane Anesthesia
by Kyung-Mi Kim, Ki-Hwa Lee and Jae-Hong Park
Medicina 2021, 57(10), 1034; https://doi.org/10.3390/medicina57101034 - 28 Sep 2021
Cited by 2 | Viewed by 2490
Abstract
Background and Objectives: Phase lag entropy, an electroencephalographic monitor, evaluates the variety in temporal patterns of phase relationship between frontal and prefrontal brain region. Phase lag entropy can reflect the depth of anesthesia induced by propofol, but the association between sevoflurane and [...] Read more.
Background and Objectives: Phase lag entropy, an electroencephalographic monitor, evaluates the variety in temporal patterns of phase relationship between frontal and prefrontal brain region. Phase lag entropy can reflect the depth of anesthesia induced by propofol, but the association between sevoflurane and phase lag entropy has not been elucidated. This study examined the effect of sevoflurane on phase lag entropy during induction of general anesthesia. We also explored the pharmacodynamic model between end-tidal anesthetic concentration and electroencephalographic monitor. Materials and Methods: A total of 20 patients were enrolled. General anesthesia was produced by escalating the sevoflurane (1 vol% up to 8 vol%). The relationship between phase lag entropy and end-tidal anesthetic concentration was analyzed. A non-linear mixed-effects model was used to get the relationship of pharmacodynamics between the end-tidal sevoflurane concentration and phase lag entropy. Mean blood pressure, heart rate, and the modified observer’s assessment of alertness/sedation scale were also recorded during sevoflurane anesthesia. Results: As level of sedation increased, phase lag entropy decreased. A significant correlation was showed between phase lag entropy and end-tidal sevoflurane concentration (r = −0.759, p < 0.001). The correlation coefficient between the modified observer’s assessment of alertness/sedation scale and phase lag entropy was 0.731 (p < 0.001). The pharmacodynamic factors assessed by the sigmoid Emax model were E0 = 84.9, Emax = 42, Ce50 = 1.81, γ = 4.78, and ke0 = 0.692. The prediction probability of phase-lag entropy for measuring the modified observer’s assessment of alertness/sedation scale and end-tidal sevoflurane concentration were 0.764 and 0.789, respectively. With the increasing concentration of sevoflurane, mean blood pressure decreased, but heart rate did not change. Conclusions: The continuing escalation in end-tidal sevoflurane concentration caused a decline in phase lag entropy. Phase lag entropy can serve as an indicator of hypnotic depth in patients receiving sevoflurane anesthesia. Full article
(This article belongs to the Section Intensive Care/ Anesthesiology)
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