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1.
Cereb Cortex ; 32(6): 1200-1211, 2022 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-34455432

RESUMO

Early interventions for autism spectrum disorder (ASD) are increasingly available, while only 42-50% of ASD children are diagnosed before 3 years old (YO). To identify neuroimaging biomarkers for early ASD diagnosis, we evaluated surface- and voxel-based brain morphometry in participants under 3YO who were later diagnosed with ASD. Magnetic resonance imaging data were retrospectively obtained from patients later diagnosed with ASD at Boston Children's Hospital. The ASD participants with comorbidities such as congenital disorder, epilepsy, and global developmental delay/intellectual disability were excluded from statistical analyses. Eighty-five structural brain magnetic resonance imaging images were collected from 81 participants under 3YO and compared with 45 images from 45 gender- and age-matched nonautistic controls (non-ASD). Using an Infant FreeSurfer pipeline, 236 regionally distributed measurements were extracted from each scan. By t-tests and linear mixed models, the smaller nucleus accumbens and larger bilateral lateral, third, and fourth ventricles were identified in the ASD group. Vertex-wise t-statistical maps showed decreased thickness in the caudal anterior cingulate cortex and increased thickness in the right medial orbitofrontal cortex in ASD. The smaller bilateral accumbens nuclei and larger cerebral ventricles were independent of age, gender, or gestational age at birth, suggesting that there are MRI-based biomarkers in prospective ASD patients before they receive the diagnosis and that the volume of the nucleus accumbens and cerebral ventricles can be key MRI-based early biomarkers to predict the emergence of ASD.


Assuntos
Transtorno do Espectro Autista , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/patologia , Biomarcadores , Ventrículos Cerebrais/patologia , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Núcleo Accumbens/diagnóstico por imagem , Estudos Prospectivos , Estudos Retrospectivos
2.
Cardiol Young ; 33(3): 388-395, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35373725

RESUMO

BACKGROUND: Although serum lactate levels are widely accepted markers of haemodynamic instability, an alternative method to evaluate haemodynamic stability/instability continuously and non-invasively may assist in improving the standard of patient care. We hypothesise that blood lactate in paediatric ICU patients can be predicted using machine learning applied to arterial waveforms and perioperative characteristics. METHODS: Forty-eight post-operative children, median age 4 months (2.9-11.8 interquartile range), mean baseline heart rate of 131 beats per minute (range 33-197), mean lactate level at admission of 22.3 mg/dL (range 6.3-71.1), were included. Morphological arterial waveform characteristics were acquired and analysed. Predicting lactate levels was accomplished using regression-based supervised learning algorithms, evaluated with hold-out cross-validation, including, basing prediction on the currently acquired physiological measurements along with those acquired at admission, as well as adding the most recent lactate measurement and the time since that measurement as prediction parameters. Algorithms were assessed with mean absolute error, the average of the absolute differences between actual and predicted lactate concentrations. Low values represent superior model performance. RESULTS: The best performing algorithm was the tuned random forest, which yielded a mean absolute error of 3.38 mg/dL when predicting blood lactate with updated ground truth from the most recent blood draw. CONCLUSIONS: The random forest is capable of predicting serum lactate levels by analysing perioperative variables, including the arterial pressure waveform. Thus, machine learning can predict patient blood lactate levels, a proxy for haemodynamic instability, non-invasively, continuously and with accuracy that may demonstrate clinical utility.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Aprendizado de Máquina , Humanos , Criança , Lactente , Algoritmos , Ácido Láctico , Unidades de Terapia Intensiva Pediátrica
3.
Cereb Cortex ; 31(11): 4916-4932, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34289021

RESUMO

We aimed to identify symptom-related neuroimaging biomarkers for patients with dysgenesis of the corpus callosum (dCC) by summarizing neurological symptoms reported in clinical evaluations and correlating them with retrospectively collected structural/diffusion brain magnetic resonance imaging (MRI) measures from 39 patients/controls (mean age 8.08 ± 3.98). Most symptoms/disorders studied were associated with CC abnormalities. Total brain (TB) volume was related to language, cognition, muscle tone, and metabolic/endocrine abnormalities. Although white matter (WM) volume was not related to symptoms studied, gray matter (GM) volume was related to cognitive, behavioral, and metabolic/endocrine disorders. Right hemisphere (RH) cortical thickness (CT) was linked to language abnormalities, while left hemisphere (LH) CT was linked to epilepsy. While RH gyrification index (GI) was not related to any symptoms studied, LH GI was uniquely related to cognitive disorders. Between patients and controls, GM volume and LH/RH CT were significantly greater in dCC patients, while WM volume and LH/RH GI were significantly greater in controls. TB volume and diffusion indices for tissue microstructures did not show differences between the groups. In summary, our brain MRI-based measures successfully revealed differential links to many symptoms. Specifically, LH GI abnormality can be a predictor for dCC patients, which is uniquely associated with the patients' symptom. In addition, patients with CC abnormalities had normal TB volume and overall tissue microstructures, with potentially deteriorated mechanisms to expand/fold the brain, indicated by GI.


Assuntos
Corpo Caloso , Substância Branca , Biomarcadores , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Criança , Pré-Escolar , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Neuroimagem , Estudos Retrospectivos , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
4.
Clin Anat ; 35(8): 1085-1099, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35560729

RESUMO

This study aimed to utilize high angular resolution diffusion magnetic resonance imaging (HARDI) tractography in the mapping of the pathways of the cerebellum associated with posterior fossa tumors (infratentorial neoplasms) and to determine whether it is useful for preoperative and postoperative evaluation. Retrospective data from 30 patients (age 2-16 yr) with posterior fossa tumor (17 low grade, 13 high grade) and 30 age-sex-matched healthy controls were used. Structural and diffusion-weighted images were collected at a 3-tesla scanner. Tractography was performed using Diffusion Toolkit software, Q-ball model, FACT algorithm, and angle threshold of 45 degrees. Manually assessed regions of interest were placed to identify reconstructed fiber pathways passing through the superior, medial, and inferior cerebellar peduncles for the preoperative, postoperative, and healthy control groups. Fractional anisotropy (FA), apparent diffusion coefficient (ADC), and track volume measures were obtained and analyzed. Statistically significant differences were found between the preop/postop, preop/control, and postop/control comparisons for the volume of the tracts in both groups. Displacement and disruption of the pathways seemed to differ in relation to the severity of the tumor. The loss of pathways after the operation was associated with selective resection during surgery due to tumor infiltration. There were no FA differences but significantly higher ADC in low-grade tumors, and no difference in both FA and ADC in high-grade tumors. The effects of posterior fossa tumors on cerebellar peduncles and reconstructed pathways were successfully evaluated by HARDI tractography. The technique appears to be useful not only for preoperative but also for postoperative evaluation.


Assuntos
Imagem de Tensor de Difusão , Neoplasias Infratentoriais , Adolescente , Cerebelo/diagnóstico por imagem , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética , Humanos , Neoplasias Infratentoriais/complicações , Neoplasias Infratentoriais/diagnóstico por imagem , Neoplasias Infratentoriais/cirurgia , Estudos Retrospectivos
5.
Am J Med Genet A ; 182(5): 1117-1129, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32162846

RESUMO

PTEN hamartoma tumor syndrome (PHTS) is a spectrum of hereditary cancer syndromes caused by germline mutations in PTEN. PHTS is of high interest, because of its high rate of neurological comorbidities including macrocephaly, autism spectrum disorder, and intellectual dysfunction. Since detailed brain morphology and connectivity of PHTS remain unclear, we quantitatively evaluated brain magnetic resonance imaging (MRI) in PHTS. Sixteen structural T1-weighted and 9 diffusion-weighted MR images from 12 PHTS patients and neurotypical controls were used for structural and high-angular resolution diffusion MRI (HARDI) tractography analyses. Mega-corpus callosum was observed in 75%, polymicrogyria in 33%, periventricular white matter lesions in 83%, and heterotopia in 17% of the PHTS participants. While gyrification index and hemispheric cortical thickness showed no significant differences between the two groups, significantly increased global and regional brain volumes, and regionally thicker cortices in PHTS participants were observed. HARDI tractography showed increased volume and length of callosal pathways, increased volume of the arcuate fasciculi (AF), and increased length of the bilateral inferior longitudinal fasciculi (ILF), bilateral inferior fronto-occipital fasciculi (IFOF), and bilateral uncinate fasciculus. A decrease in fractional anisotropy and an increased in apparent diffusion coefficient values of the AF, left ILF, and left IFOF in PHTS.


Assuntos
Transtorno do Espectro Autista/genética , Encéfalo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/genética , PTEN Fosfo-Hidrolase/genética , Anisotropia , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Encéfalo/metabolismo , Encéfalo/fisiopatologia , Criança , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/metabolismo , Corpo Caloso/patologia , Feminino , Síndrome do Hamartoma Múltiplo/diagnóstico por imagem , Síndrome do Hamartoma Múltiplo/epidemiologia , Síndrome do Hamartoma Múltiplo/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Substância Branca/diagnóstico por imagem , Substância Branca/metabolismo , Substância Branca/patologia
6.
Can Assoc Radiol J ; 70(4): 344-353, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31522841

RESUMO

PURPOSE: The required training sample size for a particular machine learning (ML) model applied to medical imaging data is often unknown. The purpose of this study was to provide a descriptive review of current sample-size determination methodologies in ML applied to medical imaging and to propose recommendations for future work in the field. METHODS: We conducted a systematic literature search of articles using Medline and Embase with keywords including "machine learning," "image," and "sample size." The search included articles published between 1946 and 2018. Data regarding the ML task, sample size, and train-test pipeline were collected. RESULTS: A total of 167 articles were identified, of which 22 were included for qualitative analysis. There were only 4 studies that discussed sample-size determination methodologies, and 18 that tested the effect of sample size on model performance as part of an exploratory analysis. The observed methods could be categorized as pre hoc model-based approaches, which relied on features of the algorithm, or post hoc curve-fitting approaches requiring empirical testing to model and extrapolate algorithm performance as a function of sample size. Between studies, we observed great variability in performance testing procedures used for curve-fitting, model assessment methods, and reporting of confidence in sample sizes. CONCLUSIONS: Our study highlights the scarcity of research in training set size determination methodologies applied to ML in medical imaging, emphasizes the need to standardize current reporting practices, and guides future work in development and streamlining of pre hoc and post hoc sample size approaches.


Assuntos
Pesquisa Biomédica , Diagnóstico por Imagem/estatística & dados numéricos , Aprendizado de Máquina , Humanos , Tamanho da Amostra
7.
Hum Brain Mapp ; 38(12): 5931-5942, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-28898497

RESUMO

Assessment of healthy brain maturation can be useful toward better understanding natural patterns of brain growth and toward the characterization of a variety of neurodevelopmental disorders as deviations from normal growth trajectories. Structural magnetic resonance imaging (MRI) provides excellent soft-tissue contrast, which allows for the assessment of gray and white matter in the developing brain. We performed a large-scale retrospective analysis of 993 pediatric structural brain MRI examinations of healthy subjects (n = 988, aged 0-32 years) imaged clinically at 3 T, and extracted a wide variety of measurements such as white matter volumes, cortical thickness, and gyral curvature localized to subregions of the brain. All extracted structural biomarkers were tested for their correlation with subject age at time of imaging, providing measurements that may assist in the assessment of neurological maturation. Additional analyses were also performed to assess gender-based differences in the brain at a variety of developmental stages, and to assess hemispheric asymmetries. Results add to the literature by analyzing a realistic distribution of healthy participants imaged clinically, a useful cohort toward the investigation and creation of diagnostic tests for a variety of pathologies as aberrations from healthy growth trajectories. The next generation of diagnostic tests will be responsible for identifying pathological conditions from populations of healthy clinically imaged individuals. Hum Brain Mapp 38:5931-5942, 2017. © 2017 Wiley Periodicals, Inc.


Assuntos
Encéfalo/diagnóstico por imagem , Encéfalo/crescimento & desenvolvimento , Imageamento por Ressonância Magnética , Adolescente , Adulto , Encéfalo/anatomia & histologia , Criança , Pré-Escolar , Feminino , Lateralidade Funcional , Humanos , Lactente , Recém-Nascido , Masculino , Tamanho do Órgão , Estudos Retrospectivos , Caracteres Sexuais , Adulto Jovem
8.
J Digit Imaging ; 29(1): 126-33, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26293705

RESUMO

Magnetic resonance imaging (MRI)-enabled cancer screening has been shown to be a highly sensitive method for the early detection of breast cancer. Computer-aided detection systems have the potential to improve the screening process by standardizing radiologists to a high level of diagnostic accuracy. This retrospective study was approved by the institutional review board of Sunnybrook Health Sciences Centre. This study compares the performance of a proposed method for computer-aided detection (based on the second-order spatial derivative of the relative signal intensity) with the signal enhancement ratio (SER) on MRI-based breast screening examinations. Comparison is performed using receiver operating characteristic (ROC) curve analysis as well as free-response receiver operating characteristic (FROC) curve analysis. A modified computer-aided detection system combining the proposed approach with the SER method is also presented. The proposed method provides improvements in the rates of false positive markings over the SER method in the detection of breast cancer (as assessed by FROC analysis). The modified computer-aided detection system that incorporates both the proposed method and the SER method yields ROC results equal to that produced by SER while simultaneously providing improvements over the SER method in terms of false positives per noncancerous exam. The proposed method for identifying malignancies outperforms the SER method in terms of false positives on a challenging dataset containing many small lesions and may play a useful role in breast cancer screening by MRI as part of a computer-aided detection system.


Assuntos
Neoplasias da Mama/diagnóstico por imagem , Meios de Contraste , Aumento da Imagem , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Neoplasias da Mama/patologia , Detecção Precoce de Câncer/métodos , Reações Falso-Positivas , Feminino , Gadolínio DTPA , Humanos , Reconhecimento Automatizado de Padrão/métodos , Reprodutibilidade dos Testes , Estudos Retrospectivos , Risco , Sensibilidade e Especificidade
10.
J Digit Imaging ; 27(5): 670-8, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25091735

RESUMO

Cancer screening with magnetic resonance imaging (MRI) is currently recommended for very high risk women. The high variability in the diagnostic accuracy of radiologists analyzing screening MRI examinations of the breast is due, at least in part, to the large amounts of data acquired. This has motivated substantial research towards the development of computer-aided diagnosis (CAD) systems for breast MRI which can assist in the diagnostic process by acting as a second reader of the examinations. This retrospective study was performed on 184 benign and 49 malignant lesions detected in a prospective MRI screening study of high risk women at Sunnybrook Health Sciences Centre. A method for performing semi-automatic lesion segmentation based on a supervised learning formulation was compared with the enhancement threshold based segmentation method in the context of a computer-aided diagnostic system. The results demonstrate that the proposed method can assist in providing increased separation between malignant and radiologically suspicious benign lesions. Separation between malignant and benign lesions based on margin measures improved from a receiver operating characteristic (ROC) curve area of 0.63 to 0.73 when the proposed segmentation method was compared with the enhancement threshold, representing a statistically significant improvement. Separation between malignant and benign lesions based on dynamic measures improved from a ROC curve area of 0.75 to 0.79 when the proposed segmentation method was compared to the enhancement threshold, also representing a statistically significant improvement. The proposed method has potential as a component of a computer-aided diagnostic system.


Assuntos
Neoplasias da Mama/diagnóstico , Meios de Contraste , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Reconhecimento Automatizado de Padrão/métodos , Mama/patologia , Diagnóstico Diferencial , Feminino , Humanos , Curva ROC , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
11.
J Digit Imaging ; 27(1): 145-51, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23836079

RESUMO

This study investigates the use of a proposed vector machine formulation with application to dynamic contrast-enhanced magnetic resonance imaging examinations in the context of the computer-aided diagnosis of breast cancer. This paper describes a method for generating feature measurements that characterize a lesion's vascular heterogeneity as well as a supervised learning formulation that represents an improvement over the conventional support vector machine in this application. Spatially varying signal-intensity measures were extracted from the examinations using principal components analysis and the machine learning technique known as the support vector machine (SVM) was used to classify the results. An alternative vector machine formulation was found to improve on the results produced by the established SVM in randomized bootstrap validation trials, yielding a receiver-operating characteristic curve area of 0.82 which represents a statistically significant improvement over the SVM technique in this application.


Assuntos
Neoplasias da Mama/diagnóstico , Mama/patologia , Diagnóstico por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Programas de Rastreamento/métodos , Máquina de Vetores de Suporte , Algoritmos , Meios de Contraste , Feminino , Gadolínio DTPA , Humanos , Aumento da Imagem/métodos , Curva ROC , Sensibilidade e Especificidade
12.
J Digit Imaging ; 26(2): 198-208, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22828783

RESUMO

The accuracy of computer-aided diagnosis (CAD) for early detection and classification of breast cancer in dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) is dependent upon the features used by the CAD classifier. Here, we show that fast orthogonal search (FOS), which provides a more efficient iterative manner of computing stepwise regression feature selection, can select features with predictive value from a set of kinetic and texture candidate features computed from dynamic contrast-enhanced magnetic resonance images. FOS can in minutes search candidate feature sets of millions of terms, which may include cross-products of features up to second-, third- or fourth-order. This method is tested on a set of 83 DCE-MRI images, of which 20 are for cancerous and 63 for benign cases, using a leave-one-out trial. The features selected by FOS were used in a FOS predictor and nearest-neighbour predictor and had an area under the receiver operating curve (AUC) of 0.889 and 0.791 respectively. The FOS predictor AUC is significantly improved over the signal enhancement ratio predictor with an AUC of 0.706 (p = 0.0035 for the difference in the AUCs). Moreover, using FOS-selected features in a support vector machine increased the AUC over that resulting when the features were manually selected.


Assuntos
Neoplasias da Mama/diagnóstico , Diagnóstico por Computador/métodos , Gadolínio DTPA , Imageamento por Ressonância Magnética/métodos , Intensificação de Imagem Radiográfica , Algoritmos , Área Sob a Curva , Detecção Precoce de Câncer , Feminino , Humanos , Reconhecimento Automatizado de Padrão , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
13.
J Med Imaging (Bellingham) ; 10(3): 036003, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37323123

RESUMO

Purpose: Random matrix theory (RMT) is an increasingly useful tool for understanding large, complex systems. Prior studies have examined functional magnetic resonance imaging (fMRI) scans using tools from RMT, with some success. However, RMT computations are highly sensitive to a number of analytic choices, and the robustness of findings involving RMT remains in question. We systematically investigate the usefulness of RMT on a wide variety of fMRI datasets using a rigorous predictive framework. Approach: We develop open-source software to efficiently compute RMT features from fMRI images and examine the cross-validated predictive potential of eigenvalue and RMT-based features ("eigenfeatures") with classic machine-learning classifiers. We systematically vary pre-processing extent, normalization procedures, RMT unfolding procedures, and feature selection and compare the impact of these analytic choices on the distributions of cross-validated prediction performance for each combination of dataset binary classification task, classifier, and feature. To deal with class imbalance, we use the area under the receiver operating characteristic curve (AUROC) as the main performance metric. Results: Across all classification tasks and analytic choices, we find RMT- and eigenvalue-based "eigenfeatures" to have predictive utility more often than not (82.4% of median AUROCs>0.5; median AUROC range across classification tasks 0.47 to 0.64). Simple baseline reductions on source timeseries, by contrast, were less useful (58.8% of median AUROCs>0.5, median AUROC range across classification tasks 0.42 to 0.62). Additionally, eigenfeature AUROC distributions were overall more right-tailed than baseline features, suggesting greater predictive potential. However, performance distributions were wide and often significantly affected by analytic choices. Conclusions: Eigenfeatures clearly have potential for understanding fMRI functional connectivity in a wide variety of scenarios. The utility of these features is strongly dependent on analytic decisions, suggesting caution when interpreting past and future studies applying RMT to fMRI. However, our study demonstrates that the inclusion of RMT statistics in fMRI investigations could improve prediction performances across a wide variety of phenomena.

14.
Biology (Basel) ; 12(3)2023 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-36979045

RESUMO

Schizophrenia is a pathological condition characterized by delusions, hallucinations, and a lack of motivation. In this study, we performed a morphological analysis of regional biomarkers in early-onset schizophrenia, including cortical thicknesses, surface areas, surface curvature, and volumes extracted from T1-weighted structural magnetic resonance imaging (MRI) and compared these findings with a large cohort of neurotypical controls. Results demonstrate statistically significant abnormal presentation of the curvature of select brain regions in early-onset schizophrenia with large effect sizes, inclusive of the pars orbitalis, pars triangularis, posterior cingulate cortex, frontal pole, orbital gyrus, lateral orbitofrontal gyrus, inferior occipital gyrus, as well as in medial occipito-temporal, lingual, and insular sulci. We also observed reduced regional volumes, surface areas, and variability of cortical thicknesses in early-onset schizophrenia relative to neurotypical controls in the lingual, transverse temporal, cuneus, and parahippocampal cortices that did not reach our stringent standard for statistical significance and should be confirmed in future studies with higher statistical power. These results imply that abnormal neurodevelopment associated with early-onset schizophrenia can be characterized with structural MRI and may reflect abnormal and possibly accelerated pruning of the cortex in schizophrenia.

15.
Diagnostics (Basel) ; 13(7)2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37046533

RESUMO

Supervised machine learning classification is the most common example of artificial intelligence (AI) in industry and in academic research. These technologies predict whether a series of measurements belong to one of multiple groups of examples on which the machine was previously trained. Prior to real-world deployment, all implementations need to be carefully evaluated with hold-out validation, where the algorithm is tested on different samples than it was provided for training, in order to ensure the generalizability and reliability of AI models. However, established methods for performing hold-out validation do not assess the consistency of the mistakes that the AI model makes during hold-out validation. Here, we show that in addition to standard methods, an enhanced technique for performing hold-out validation-that also assesses the consistency of the sample-wise mistakes made by the learning algorithm-can assist in the evaluation and design of reliable and predictable AI models. The technique can be applied to the validation of any supervised learning classification application, and we demonstrate the use of the technique on a variety of example biomedical diagnostic applications, which help illustrate the importance of producing reliable AI models. The validation software created is made publicly available, assisting anyone developing AI models for any supervised classification application in the creation of more reliable and predictable technologies.

16.
Diagnostics (Basel) ; 13(17)2023 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-37685313

RESUMO

Regional anatomical structures of the brain are intimately connected to functions corresponding to specific regions and the temporospatial pattern of genetic expression and their functions from the fetal period to old age. Therefore, quantitative brain morphometry has often been employed in neuroscience investigations, while controlling for the scanner effect of the scanner is a critical issue for ensuring accuracy in brain morphometric studies of rare orphan diseases due to the lack of normal reference values available for multicenter studies. This study aimed to provide across-site normal reference values of global and regional brain volumes for each sex and age group in children and adolescents. We collected magnetic resonance imaging (MRI) examinations of 846 neurotypical participants aged 6.0-17.9 years (339 male and 507 female participants) from 5 institutions comprising healthy volunteers or neurotypical patients without neurological disorders, neuropsychological disorders, or epilepsy. Regional-based analysis using the CIVET 2.1.0. pipeline provided regional brain volumes, and the measurements were across-site combined using ComBat-GAM harmonization. The normal reference values of global and regional brain volumes and lateral indices in our study could be helpful for evaluating the characteristics of the brain morphology of each individual in a clinical setting and investigating the brain morphology of ultra-rare diseases.

17.
Int J Dev Neurosci ; 82(2): 146-158, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34969179

RESUMO

Moyamoya disease (MMD) is a rare, progressive cerebrovascular disorder, with an unknown aetiology and pathogenesis. It is characterized by steno-occlusive changes at the terminal portion of the internal carotid artery (ICA), which is accompanied by variable development of the basal collaterals called moyamoya vessels. In this study, we investigate the potential for structural T1 magnetic resonance imaging (MRI) to help characterize MMD clinically, with the help of regionally distributed relative signal intensities (RRSIs) and volumes (RRVs). These RRSIs and RRVs provide the ability to characterize aspects of regional brain development and represent an extension to existing automated biomarker extraction technologies. This study included 269 MRI examinations from MMD patients and 993 MRI examinations from neurotypical controls, with regional biomarkers compared between groups with the area under the receiver operating characteristic curve (AUC). Results demonstrate abnormal presentation of RRSIs and RRVs in the insula (15- to 20-year old cohort, left AUC: 0.74, right AUC: 0.71) and the lateral orbitofrontal region (5- to 10-year old cohort, left AUC: 0.67; 15-20 year cohort, left AUC: 0.62, right AUC: 0.65). Results indicate that RRSIs and RRVs may help in characterizing brain development, assist in the assessment of the presentation of the brains of children with MMD and help overcome standardization challenges in multiprotocol clinical MRI. Further investigation of the potential for RRSIs and RRVs in clinical imaging is warranted and supported through the release of open-source software.


Assuntos
Doença de Moyamoya , Adolescente , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Córtex Cerebral/patologia , Criança , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética/métodos , Doença de Moyamoya/diagnóstico por imagem , Doença de Moyamoya/patologia , Curva ROC , Adulto Jovem
18.
Int J Comput Assist Radiol Surg ; 17(4): 711-718, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35278156

RESUMO

PURPOSE: Machine learning (ML) models in medical imaging (MI) can be of great value in computer aided diagnostic systems, but little attention is given to the confidence (alternatively, uncertainty) of such models, which may have significant clinical implications. This paper applied, validated, and explored a technique for assessing uncertainty in convolutional neural networks (CNNs) in the context of MI. MATERIALS AND METHODS: We used two publicly accessible imaging datasets: a chest x-ray dataset (pneumonia vs. control) and a skin cancer imaging dataset (malignant vs. benign) to explore the proposed measure of uncertainty based on experiments with different class imbalance-sample sizes, and experiments with images close to the classification boundary. We also further verified our hypothesis by examining the relationship with other performance metrics and cross-checking CNN predictions and confidence scores with an expert radiologist (available in the Supplementary Information). Additionally, bounds were derived on the uncertainty metric, and recommendations for interpretability were made. RESULTS: With respect to training set class imbalance for the pneumonia MI dataset, the uncertainty metric was minimized when both classes were nearly equal in size (regardless of training set size) and was approximately 17% smaller than the maximum uncertainty resulting from greater imbalance. We found that less-obvious test images (those closer to the classification boundary) produced higher classification uncertainty, about 10-15 times greater than images further from the boundary. Relevant MI performance metrics like accuracy, sensitivity, and sensibility showed seemingly negative linear correlations, though none were statistically significant (p [Formula: see text] 0.05). The expert radiologist and CNN expressed agreement on a small sample of test images, though this finding is only preliminary. CONCLUSIONS: This paper demonstrated the importance of uncertainty reporting alongside predictions in medical imaging. Results demonstrate considerable potential from automatically assessing classifier reliability on each prediction with the proposed uncertainty metric.


Assuntos
Aprendizado de Máquina , Redes Neurais de Computação , Diagnóstico por Imagem , Humanos , Reprodutibilidade dos Testes , Incerteza
19.
Int J Dev Neurosci ; 82(7): 584-595, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35797727

RESUMO

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental condition for which we have an incomplete understanding, and so brain imaging methods, such as magnetic resonance imaging (MRI), may be able to assist in characterising and understanding the presentation of the brain in an ADHD population. Statistical and computational methods were used to compare participants with ADHD and neurotypical controls at a variety of developmental stages to assess detectable abnormal neurodevelopment potentially associated with ADHD and to assess our ability to diagnose and characterise the condition from real-world clinical MRI examinations. T1-weighted structural MRI examinations (n = 993; 0-31 years old [YO]) were obtained from neurotypical controls, and 637 examinations were obtained from patients with ADHD (0-26 YO). Measures of average (mean) regional cortical thickness were acquired, alongside the first reporting of regional cortical thickness variability (as assessed with the standard deviation [SD]) in ADHD. A comparison between the inattentive and combined (inattentive and hyperactive) subtypes of ADHD is also provided. A preliminary independent validation was also performed on the publicly available ADHD200 dataset. Relative to controls, subjects with ADHD had, on average, lowered SD of cortical thicknesses and increased mean thicknesses across several key regions potentially linked with known symptoms of ADHD, including the precuneus and supramarginal gyrus.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Recém-Nascido , Humanos , Adulto Jovem , Lactente , Pré-Escolar , Criança , Adolescente , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Imageamento por Ressonância Magnética/métodos , Mapeamento Encefálico , Encéfalo/patologia , Espectroscopia de Ressonância Magnética
20.
Int J Dev Neurosci ; 82(6): 539-547, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35775746

RESUMO

Tourette syndrome (TS) is a neurological disorder characterized by involuntary and repetitive movements known as tics. A retrospective analysis of magnetic resonance imaging (MRI) scans from 39 children and adolescents with TS was performed and subsequently compared with MRI scans from 834 neurotypical controls. The purpose of this study was to identify any differences in the regions of motor circuitry in TS to further our understanding of their disturbances in motor control (i.e., motor tics). Measures of volume, cortical thickness, surface area, and surface curvature for specific motor regions were derived from each MRI scan. The results revealed increased surface curvature in the opercular part of the inferior frontal gyrus and the triangular part of the inferior frontal gyrus in the TS group compared with the neurotypical control group. These novel findings offer some of the first evidence for surface curvature differences in motor circuitry regions in TS, which may be associated with known motor and vocal tics.


Assuntos
Tiques , Síndrome de Tourette , Adolescente , Criança , Humanos , Imageamento por Ressonância Magnética , Córtex Pré-Frontal/patologia , Estudos Retrospectivos , Tiques/patologia , Síndrome de Tourette/diagnóstico por imagem
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