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Quantitative MRI (qMRI) has been shown to be clinically useful for numerous applications in the brain and body. The development of rapid, accurate, and reproducible qMRI techniques offers access to new multiparametric data, which can provide a comprehensive view of tissue pathology. This work introduces a multiparametric qMRI protocol along with full postprocessing pipelines, optimized for brain imaging at 3 Tesla and using state-of-the-art qMRI tools. The total scan time is under 50 minutes and includes eight pulse-sequences, which produce range of quantitative maps including T1, T2, and T2* relaxation times, magnetic susceptibility, water and macromolecular tissue fractions, mean diffusivity and fractional anisotropy, magnetization transfer ratio (MTR), and inhomogeneous MTR. Practical tips and limitations of using the protocol are also provided and discussed. Application of the protocol is presented on a cohort of 28 healthy volunteers and 12 brain regions-of-interest (ROIs). Quantitative values agreed with previously reported values. Statistical analysis revealed low variability of qMRI parameters across subjects, which, compared to intra-ROI variability, was x4.1 ± 0.9 times higher on average. Significant and positive linear relationship was found between right and left hemispheres' values for all parameters and ROIs with Pearson correlation coefficients of r>0.89 (P<0.001), and mean slope of 0.95 ± 0.04. Finally, scan-rescan stability demonstrated high reproducibility of the measured parameters across ROIs and volunteers, with close-to-zero mean difference and without correlation between the mean and difference values (across map types, mean P value was 0.48 ± 0.27). The entire quantitative data and postprocessing scripts described in the manuscript are publicly available under dedicated GitHub and Figshare repositories. The quantitative maps produced by the presented protocol can promote longitudinal and multi-center studies, and improve the biological interpretability of qMRI by integrating multiple metrics that can reveal information, which is not apparent when examined using only a single contrast mechanism.
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Encéfalo , Imagen por Resonancia Magnética , Humanos , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Adulto , Masculino , Femenino , Procesamiento de Imagen Asistido por Computador/métodos , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Multiple studies demonstrated hypothalamic-pituitary dysfunction in survivors of pediatric brain tumors. However, few studies investigated the trajectories of pituitary height in these patients and their associations with pituitary function. We aimed to evaluate longitudinal changes of pituitary height in children and adolescents with brain tumors, and their association with endocrine deficiencies. MATERIALS AND METHODS: We conducted a retrospective analysis of 193 pediatric patients (54.9% male) diagnosed with brain tumors from 2002 to 2018, with a minimum of two years of radiological follow-up. Pituitary height was measured using MRI scans at diagnosis and at 2, 5, and 10 years post-diagnosis, with clinical data sourced from patient charts. RESULTS: Average age at diagnosis was 7.6 ± 4.5 years, with a follow-up of 6.1 ± 3.4 years. 52.8% underwent radiotherapy and 37.8% experienced pituitary hormone deficiency. Radiation treatment was a significant predictor of decreased pituitary height at all observed time points (p = 0.016, p < 0.001, p = 0.008, respectively). Additionally, chemotherapy (p = 0.004) or radiotherapy (p = 0.022) history and pituitary height at 10 years (p = 0.047) were predictors of endocrine deficiencies. ANOVA revealed an expected increase in pituitary height over time in pediatric patients, but this growth was significantly impacted by radiation treatment and gender (p for interaction = 0.005 and 0.025, respectively). CONCLUSION: Cranial irradiation in pediatric patients is associated with impairment of the physiologic increase in pituitary size; in turn, decreased pituitary height is associated with endocrine dysfunction. We suggest that pituitary gland should be evaluated on surveillance imaging of pediatric brain tumor survivors, and if small for age, clinical endocrine evaluation should be pursued.
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Neoplasias Encefálicas , Humanos , Niño , Masculino , Femenino , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/diagnóstico por imagen , Estudios Retrospectivos , Adolescente , Traumatismos por Radiación/etiología , Traumatismos por Radiación/diagnóstico por imagen , Hipófisis/efectos de la radiación , Hipófisis/diagnóstico por imagen , Preescolar , Imagen por Resonancia Magnética , Irradiación Craneana/efectos adversos , Hipopituitarismo/etiologíaRESUMEN
Background: The impaired drainage of cerebrospinal fluid through the glymphatic system is thought to play a role in the idiopathic intracranial hypertension (IIH) pathophysiology. Limited data exist regarding the glymphatic system's involvement in pediatric patients with IIH. Therefore, the study's objective was to quantitatively evaluate alterations in parenchymal diffusivity and magnetic resonance imaging (MRI)-visible dilated perivascular spaces (PVS) as imaging indicators of glymphatic dysfunction in pediatric patients with IIH. Methods: Patients diagnosed with IIH in 2017-2022 in a single tertiary center (Sheba Medical Center, Israel) were retrospectively reviewed. Twenty-four pediatric patients were enrolled. All patients underwent clinical 3-T brain MRI. The control group included 24 age- and gender-matched healthy subjects with a normal-appearing brain on imaging. We used automatic atlas-based diffusion-weighted imaging analysis to determine regional diffusivity of the thalamus, caudate, putamen, globus pallidus, hippocampus, amygdala, and brain stem. PVS were evaluated using a semi-quantitative rating scale on T2-weighted images. Variables were compared using the Mann-Whitney test. Multivariate analysis of covariance was used to test for differences between controls and IIH patients. Results: No significant differences in regional brain diffusivity were observed between individuals with IIH and healthy controls (P=0.14-0.91 for various brain regions). The number of visible PVS was comparable between patients with IIH and the control group across all evaluated sites (P=0.12-0.74 for various brain regions). Conclusions: Pediatric IIH patients exhibited similar patterns of parenchymal diffusivity and PVS compared to age-matched controls. These findings do not support the hypothesis that the glymphatic system may play a role in the pathophysiology of pediatric IIH, although previously postulated. However, employing more sophisticated magnetic resonance (MR) techniques could enhance the sensitivity in uncovering underlying glymphatic dysfunction. Further research is warranted to validate and explore this association in larger cohorts and investigate the underlying mechanisms involved in IIH.
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Retinal vein occlusion (RVO) and superior ophthalmic vein thrombosis (SOVT) are rare diseases in the pediatric population; however, the ophthalmic and neurologic morbidity are significant. As published data are scarce for these conditions, we present our experience with pediatric ocular venous thrombosis in four patients, and discuss recommended management for evaluation and treatment. We suggest performing thrombophilia workup for all pediatric patients with RVO or SOVT. In patients with thrombophilia risk factors or patients with additional thrombi, we highly recommend initiating anticoagulation therapy. There is a need for more research in order to determine the optimal management strategy.
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PURPOSE: Abnormal fetal brain measurements might affect clinical management and parental counseling. The effect of between-field-strength differences was not evaluated in quantitative fetal brain imaging until now. Our study aimed to compare fetal brain biometry measurements in 3.0 T with 1.5 T scanners. METHODS: A retrospective cohort of 1150 low-risk fetuses scanned between 2012 and 2021, with apparently normal brain anatomy, were retrospectively evaluated for biometric measurements. The cohort included 1.5 T (442 fetuses) and 3.0 T scans (708 fetuses) of populations with comparable characteristics in the same tertiary medical center. Manually measured biometry included bi-parietal, fronto-occipital and trans-cerebellar diameters, length of the corpus-callosum, vermis height, and width. Measurements were then converted to centiles based on previously reported biometric reference charts. The 1.5 T centiles were compared with the 3.0 T centiles. RESULTS: No significant differences between centiles of bi-parietal diameter, trans-cerebellar diameter, or length of the corpus callosum between 1.5 T and 3.0 T scanners were found. Small absolute differences were found in the vermis height, with higher centiles in the 3.0 T, compared to the 1.5 T scanner (54.6th-centile, vs. 39.0th-centile, p < 0.001); less significant differences were found in vermis width centiles (46.9th-centile vs. 37.5th-centile, p = 0.03). Fronto-occipital diameter was higher in 1.5 T than in the 3.0 T scanner (66.0th-centile vs. 61.8th-centile, p = 0.02). CONCLUSIONS: The increasing use of 3.0 T MRI for fetal imaging poses a potential bias when using 1.5 T-based charts. We elucidate those biometric measurements are comparable, with relatively small between-field-strength differences, when using manual biometric measurements. Small inter-magnet differences can be related to higher spatial resolution with 3 T scanners and may be substantial when evaluating small brain structures, such as the vermis.
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Imagen por Resonancia Magnética , Imanes , Femenino , Humanos , Estudios Retrospectivos , Estudios de Cohortes , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/anatomía & histología , Biometría/métodosRESUMEN
BACKGROUND: Papilledema is thought to be the hallmark sign of increased intracranial pressure (ICP). Distension of the subarachnoid space within the optic nerve sheath is also commonly reported in MR studies as an indirect sign of increased ICP. HYPOTHESIS: General anesthesia and positive pressure ventilation might result in changes in optic sheath diameter (OSD) observed on clinical brain MRI. STUDY TYPE: Retrospective. POPULATION: One hundred forty-five patients (154 MRI scans, 7.3 years ± 5.1); 97 studies in the anesthesia group (4.4 years ± 3.4) of which 22 had papilledema, and 57 in the non-anesthesia group (12.3 years ± 3.2), of which 28 had papilledema. FIELD STRENGTH/SEQUENCE: 1.5T or 3.0T volumetric T2 images. T2 images were obtained from different vendors. ASSESSMENT: OSD, optic nerve diameter (OND), and peri-optic cerebrospinal fluid (CSF) were measured manually on T2-weighted MR images for various population subgroups (with and without anesthesia; with or without papilledema). The correlation between these measurements and the clinical diagnosis of papilledema was evaluated via receiver operating characteristic (ROC) analysis. STATISTICAL TESTS: Chi-square test; Mann-Whitney Test; Spearman's test and ROCs; Interclass correlation coefficient, P = 0.05. RESULTS: General anesthesia resulted in significantly larger mean OSD in patients with or without papilledema (7.3 ± 1.0 mm vs. 6.1 ± 1.1 mm and 6.7 ± 1.0 mm vs. 5.4 ± 0.9 mm, respectively). In the non-anesthesia group, the average OSD values (6.1 ± 1.1 mm) were significantly higher in papilledema patients compared to non-papilledema patients (5.4 ± 0.9 mm), with larger peri-optic CSF rim (1.6 ± 0.4 mm vs. 1.3 ± 0.3 mm). In the anesthesia group, OND was significantly larger in papilledema patients (3.4 ± 0.4 mm vs. 3.1 ± 0.5 mm), though the average peri-optic CSF rim did not reach a significance in papilledema compared with non-papilledema patients (2.0 ± 0.3 mm vs. 1.8 ± 0.4 mm, P = 0.06). In patients with general anesthesia, peri-optic CSF rim had a limited correlation with increased ICP. DATA CONCLUSION: In the pediatric population, imaging findings of increased OSD on brain MRI might be related to general anesthesia rather than increased ICP. The interpretation of optic nerve sheath distention should be reported cautiously in conjunction with anesthesia status, especially in the pediatric population. EVIDENCE LEVEL: 4 Technical Efficacy: 5.
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Hipertensión Intracraneal , Papiledema , Humanos , Niño , Papiledema/diagnóstico , Estudios Retrospectivos , Nervio Óptico/diagnóstico por imagen , Anestesia GeneralRESUMEN
BACKGROUND: Magnetic resonance imaging (MRI) diagnosis is usually performed by analyzing contrast-weighted images, where pathology is detected once it reached a certain visual threshold. Computer-aided diagnosis (CAD) has been proposed as a way for achieving higher sensitivity to early pathology. PURPOSE: To compare conventional (i.e., visual) MRI assessment of artificially generated multiple sclerosis (MS) lesions in the brain's white matter to CAD based on a deep neural network. STUDY TYPE: Prospective. POPULATION: A total of 25 neuroradiologists (15 males, age 39 ± 9, 9 ± 9.8 years of experience) independently assessed all synthetic lesions. FIELD STRENGTH/SEQUENCE: A 3.0 T, T2 -weighted multi-echo spin-echo (MESE) sequence. ASSESSMENT: MS lesions of varying severity levels were artificially generated in healthy volunteer MRI scans by manipulating T2 values. Radiologists and a neural network were tasked with detecting these lesions in a series of 48 MR images. Sixteen images presented healthy anatomy and the rest contained a single lesion at eight increasing severity levels (6%, 9%, 12%, 15%, 18%, 21%, 25%, and 30% elevation in T2 ). True positive (TP) rates, false positive (FP) rates, and odds ratios (ORs) were compared between radiological diagnosis and CAD across the range lesion severity levels. STATISTICAL TESTS: Diagnostic performance of the two approaches was compared using z-tests on TP rates, FP rates, and the logarithm of ORs across severity levels. A P-value <0.05 was considered statistically significant. RESULTS: ORs of identifying pathology were significantly higher for CAD vis-à-vis visual inspection for all lesions' severity levels. For a 6% change in T2 value (lowest severity), radiologists' TP and FP rates were not significantly different (P = 0.12), while the corresponding CAD results remained statistically significant. DATA CONCLUSION: CAD is capable of detecting the presence or absence of more subtle lesions with greater precision than the representative group of 25 radiologists chosen in this study. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY: Stage 3.
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Imagen por Resonancia Magnética , Esclerosis Múltiple , Masculino , Humanos , Estudios Prospectivos , Sensibilidad y Especificidad , Imagen por Resonancia Magnética/métodos , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Computadores , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Estudios RetrospectivosRESUMEN
OBJECTIVE: To assess whether white matter (WM) diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) derived measures correlate with tuberous sclerosis complex (TSC) disease severity. COHORT AND METHODS: A multi-shell diffusion protocol was added to the clinical MRI brain scans of thirteen patients including 6 males and 7 females with a mean ± std age of 17.2 ± 5.8 years. Fractional anisotropy (FA) and mean diffusivity (MD) were generated from DTI and neurite density index (NDI), orientation dispersion index (ODI) and free water index (fiso) were generated from NODDI. A clinical score was determined for each patient according to the existence of epilepsy, developmental delay, autism or psychiatric disorders. Whole-brain segmented WM was averaged for each parametric map and 3 group k-means clustering was performed on the NDI and FA maps. MRI quantitative parameters were correlated with the clinical scores. RESULTS: Segmented whole brain WM averages of MD and NDI values showed significant negative (p = 0.0058) and positive (p = 0.0092) correlations with the clinical scores, respectively. Additionally, the contribution of the low and high NDI-based clusters to the whole brain WM significantly correlated with the clinical scores (p = 0.03 and p = 0.00047, respectively). No correlation was found when the clusters were based on the FA maps. CONCLUSION: Advanced diffusion MRI of TSC patients revealed widespread WM alterations. Neurite density showed significant correlations with disease severity and is therefore suggested to reflect an underlying biological process in TSC WM. The quantification of WM alterations by advanced diffusion MRI may be an additional biomarker for TSC and may be advantageous as a complementary MR protocol for the evaluation of TSC patients.
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Leucoaraiosis , Esclerosis Tuberosa , Sustancia Blanca , Adolescente , Adulto , Encéfalo/diagnóstico por imagen , Niño , Imagen de Difusión Tensora/métodos , Femenino , Humanos , Masculino , Neuritas , Índice de Severidad de la Enfermedad , Esclerosis Tuberosa/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen , Adulto JovenRESUMEN
OBJECTIVES: To determine the rate of fetal and neonatal brain lesions and define risk factors for such lesions in pregnancies complicated by Twin Anemia Polycythemia Sequence (TAPS). METHODS: A retrospective cohort study of monochorionic twin pregnancies which were diagnosed with TAPS in a single tertiary medical center between 2013 and 2021. Pregnancies were followed with fetal brain neurosonogram every 2 weeks and fetal brain MRI (magnetic resonance imaging) was performed when indicated at 28-32 weeks of gestation; post-natal brain imaging included neonatal brain ultrasound. Pregnancies with pre- and post-natal brain lesions were compared to those without such findings. RESULTS: Overall, 23 monochorionic diamniotic pregnancies were diagnosed with TAPS over the study period resulting in perinatal survival of 91.3% (42/46). In 6/23 (26%) pregnancies and 7/46 (15.2%) fetuses pre- or post-natal brain lesions were detected, of whom five were the polycythemic twins and two were the anemic twins. Brain findings included intra-cerebral hemorrhage and ischemic lesions and were diagnosed prenatally in 6/7 (85.7%) cases. No risk factors for severe brain lesions were identified. CONCLUSIONS: TAPS may place the fetuses and neonates at increased risk for cerebral injuries. Incorporation of fetal brain imaging protocols may enhance precise prenatal diagnosis and allow for accurate parental counseling and post-natal care.
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Anemia , Lesiones Encefálicas , Transfusión Feto-Fetal , Policitemia , Anemia/complicaciones , Anemia/diagnóstico por imagen , Anemia/epidemiología , Femenino , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Transfusión Feto-Fetal/epidemiología , Feto , Humanos , Recién Nacido , Policitemia/complicaciones , Policitemia/diagnóstico por imagen , Policitemia/epidemiología , Embarazo , Embarazo Gemelar , Estudios Retrospectivos , Gemelos Monocigóticos , Ultrasonografía PrenatalRESUMEN
PURPOSE: Apparent diffusion coefficient (ADC) values in the developing fetus provide valuable information on the diagnosis and prognosis of prenatal brain pathologies. Normative ADC data has been previously established in 1.5 T MR scanners but lacking in 3.0 T scanners. Our objective was to measure ADC values in various brain areas in a cohort of normal singleton fetuses scanned in a 3.0 T MR scanner. METHODS: DWI (diffusion-weighted imaging) was performed in 47 singleton fetuses with normal or questionably abnormal results on sonography followed by normal structural MR imaging. ADC values were measured in cerebral lobes (frontal, parietal, temporal lobes), basal ganglia, and pons. Regression analysis was used to examine gestational age-related changes in regional ADC. RESULTS: Median gestational age was 30.1 weeks (range, 26-34 weeks). There was a significant effect of region on ADC values, whereby ADC values were highest in cerebral lobes (parietal > frontal > temporal lobes), compared with basal ganglia. The lowest values were found in the pons. On regression analysis, there was a decrease in ADC values in basal ganglia and pons with increasing gestational age. ADC values in frontal, parietal, and temporal lobes were stable in our cohort. CONCLUSION: Regional brain ADC values in 3.0 T scanners are comparable with previously reported values in 1.5 T scanners, with similar changes over gestational age. Using 3.0 T scanners is increasing worldwide. For fetal imaging, establishing normal ADC values is critical as DWI enables a sensitive and quantitative technique to evaluate normal and abnormal brain development.
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Imagen de Difusión por Resonancia Magnética , Imagen por Resonancia Magnética , Encéfalo/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética/métodos , Femenino , Humanos , Lactante , Embarazo , Tercer Trimestre del Embarazo , Diagnóstico Prenatal/métodosRESUMEN
PURPOSE: MRI has become the tool of choice for brain imaging, providing unrivalled contrast between soft tissues, as well as a wealth of information about anatomy, function, and neurochemistry. Image quality, in terms of spatial resolution and noise, is strongly dependent on acquisition duration. A typical brain MRI scan may last several minutes, with total protocol duration often exceeding 30 minutes. Long scan duration leads to poor patient experience, long waiting time for appointments, and high costs. Therefore, shortening MRI scans is crucial. In this paper, we investigate the enhancement of low-resolution (LR) brain MRI scanning, to enable shorter acquisition times without compromising the diagnostic value of the images. METHODS: We propose a novel fully convolutional neural enhancement approach. It is optimized for accelerated LR MRI acquisitions obtained by reducing the acquisition matrix size only along phase encoding direction. The network is trained to transform the LR acquisitions into corresponding high-resolution (HR) counterparts in an end-to-end manner. In contrast to previous neural-based MRI enhancement algorithms, such as DAGAN, the LR images used for training are real acquisitions rather than smoothed, downsampled versions of the HR images. RESULTS: The proposed method is validated qualitatively and quantitatively for an acceleration factor of 4. Favourable comparison is demonstrated against the state-of-the-art DeblurGAN and DAGAN algorithms in terms of PSNR and SSIM scores. The result was further confirmed by an image quality rating experiment performed by four senior neuroradiologists. CONCLUSIONS: The proposed method may become a valuable tool for scan time reduction in brain MRI. In continuation of this research, the validation should be extended to larger datasets acquired for different imaging protocols, and considering several MRI machines produced by different vendors.
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Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Aceleración , Encéfalo/diagnóstico por imagen , Humanos , NeuroimagenRESUMEN
OBJECTIVE: Bone impaction (BI) is a common cause for emergency room visits. Among foreign bodies, fish bone is considered the most common. The sensitivity of symptoms in predicting BI is relatively low, making imaging a central tool to aid diagnosis. Current imaging practices include both neck plain film radiography and none-contrast CT scans of the neck. We evaluated the accuracy of neck plain film radiography and CT scans of the neck for the diagnosis of BI. METHODS: Retrospective review of all patients who presented to the emergency room between 2009 and 2016 with a suspicious history of BI whom underwent plain film neck radiography or CT. All Images were reviewed by two neuro-radiologist blinded to the clinical symptoms and findings. Symptoms, clinical findings and images results were compared to the final diagnosis. RESULTS: 89 patients (30.7%), out of 290 patients who presented with complaints of BI, were diagnosed with BI. Mean age was 44.7 years old. Plain film neck radiography failed to predict BI (sen. 14.4%, spe 89.8% accuracy 63.2%), neck CT has an improved accuracy and sensitivity in locating BI (sen. 83.3%, spe. 94.1% accuracy 92.5%). Interobserver agreement between the two neuro-radiologists was moderate (0.46) and substantial (0.77) in neck radiography and CT images, respectively. Neck radiography missed 60 (out of 61) oropharyngeal BI's. CONCLUSION: Neck radiography has high inter-observer variability and low sensitivity for the diagnosis of BI. Neck CT should be the first imaging modality in patients with suspicious complaints for BI and negative physical exam.
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Cuerpos Extraños/diagnóstico por imagen , Dolor de Cuello/diagnóstico por imagen , Cuello/diagnóstico por imagen , Radiografía/estadística & datos numéricos , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Adulto , Animales , Huesos/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Peces , Cuerpos Extraños/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Dolor de Cuello/etiología , Variaciones Dependientes del Observador , Radiografía/métodos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodosRESUMEN
PURPOSE: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiorgan hamartomas, including cerebral lesions, with seizures as a common presentation. Most TSC patients will also experience neurocognitive comorbidities. Our objective was to use machine learning techniques incorporating clinical and imaging data to predict the occurrence of major neurocognitive disorders and seizures in TSC patients. METHODS: A cohort of TSC patients were enrolled in this retrospective study. Clinical data included genetic, demographic, and seizure characteristics. Imaging parameters included the number, characteristics, and location of cortical tubers and the presence of subependymal nodules, SEGAs, and cerebellar tubers. A random forest machine learning scheme was used to predict seizures and neurodevelopmental delay or intellectual developmental disability. Prediction ability was assessed by the area-under-the-curve of receiver-operating-characteristics (AUC-ROC) of ten-fold cross-validation training set and an independent validation set. RESULTS: The study population included 77 patients, 55% male (17.1 ± 11.7 years old). The model achieved AUC-ROC of 0.72 ± 0.1 and 0.68 in the training and internal validation datasets, respectively, for predicting neurocognitive comorbidity. Performance was limited in predicting seizures (AUC-ROC of 0.54 ± 0.19 and 0.71 in the training and internal validation datasets, respectively). The integration of seizure characteristics into the model improved the prediction of neurocognitive comorbidity with AUC-ROC of 0.84 ± 0.07 and 0.75 in the training and internal validation datasets, respectively. CONCLUSIONS: This proof of concept study shows that it is possible to achieve a reasonable prediction of major neurocognitive morbidity in TSC patients using structural brain imaging and machine learning techniques. These tools can help clinicians identify subgroups of TSC patients with an increased risk of developing neurocognitive comorbidities.
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Esclerosis Tuberosa , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Aprendizaje Automático , Imagen por Resonancia Magnética , Masculino , Trastornos Neurocognitivos/complicaciones , Estudios Retrospectivos , Convulsiones/diagnóstico por imagen , Convulsiones/etiología , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico por imagen , Adulto JovenRESUMEN
BACKGROUND: Temporal lobe T2 hyperintensity has been described in association with prenatal cytomegalovirus (CMV) infection on fetal MRI. However, these findings are often perplexing with high inter-observer variability. Our objective was to evaluate temporal lobe T2 signal quantitatively in prenatal CMV infection. METHODS: In this retrospective study, 119 fetuses, of which 51 fetuses with suspected CMV exposure (29-36 weeks of gestation) based on maternal seroconversion and age-matched 68 normal controls, were included. Mean and maximal temporal lobe T2 signal were evaluated quantitatively by measuring the T2 signal in the temporal lobes relative to the amniotic fluid's signal. Intra-observer, inter-observer variability and diagnostic performance were assessed. The occurrence of neonatal sensorineural hearing loss (SNHL) was recorded. RESULTS: Relative temporal lobe T2 signal did not change along with the examined gestational age. Of our suspected CMV cohort, 29 fetuses were positive for fetal CMV infection on polymerase chain reaction (PCR) analysis. There were no statistically significant differences in the relative mean or maximal temporal lobes T2 signal between CMV positive, CMV negative fetuses, or normal controls. No correlation was found between neonatal SNHL and temporal lobe T2 signal. CONCLUSIONS: When temporal lobe T2 signal is analyzed quantitatively, CMV infected fetuses do not present an increased signal than age-matched controls. Thus, reported subjective temporal T2 hyperintensities should be interpreted carefully and should have a limited effect on pregnancy management, especially as an isolated finding. Our study illustrates the importance of quantitative imaging in diagnostic neuroradiology.
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BACKGROUND: Only a small proportion of schizophrenia patients present with catatonic symptoms. Imaging studies suggest that brain motor circuits are involved in the underlying pathology of catatonia. However, data about diffusivity dysregulation of these circuits in catatonic schizophrenia are scarce. OBJECTIVES: To assess the involvement of brain motor circuits in schizophrenia patients with catatonia. METHODS: Diffusion tensor imaging (DTI) was used to measure white matter signals in selected brain regions linked to motor circuits. Relevant DTI data of seven catatonic schizophrenia patients were compared to those of seven non-catatonic schizophrenia patients, matched for sex, age, and education level. RESULTS: Significantly elevated fractional anisotropy values were found in the splenium of the corpus callosum, the right peduncle of the cerebellum, and the right internal capsule of the schizophrenia patients with catatonia compared to those without catatonia. This finding showed altered diffusivity in selected motor-related brain areas. CONCLUSIONS: Catatonic schizophrenia is associated with dysregulation of the connectivity in specific motoric brain regions and corresponding circuits. Future DTI studies are needed to address the neural correlates of motor abnormalities in schizophrenia-related catatonia during the acute and remitted state of the illness to identify the specific pathophysiology of this disorder.
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Imagen de Difusión Tensora/métodos , Corteza Motora , Esquizofrenia Catatónica , Adulto , Anisotropía , Cerebelo/diagnóstico por imagen , Cerebelo/fisiopatología , Conectoma/métodos , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/fisiopatología , Correlación de Datos , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Cápsula Interna/diagnóstico por imagen , Cápsula Interna/fisiopatología , Masculino , Corteza Motora/diagnóstico por imagen , Corteza Motora/fisiopatología , Escalas de Valoración Psiquiátrica , Esquizofrenia Catatónica/diagnóstico , Esquizofrenia Catatónica/fisiopatologíaRESUMEN
OBJECTIVE: We investigated the findings and pitfalls of FDG-PET/CT scanning after maxillectomy with reconstruction/rehabilitation procedures, in patients with head and neck malignancies treated during nine years at one tertiary medical centre. METHODS: Fourteen patients (10 males), aged 22-84 years, underwent 17 reconstruction/rehabilitation maxillectomy surgeries and 35 PET/CT scans. Postoperative PET/CT findings were correlated with clinical and imaging follow-up. RESULTS: Increased FDG uptake, mean SUVmax 2.4 ± 1.4 (range 0.3-4.3), was observed at the postoperative bed following 12 of 17 surgeries (71%; 10 obturators, two mesh reconstructions). Following the remaining 5/17 surgeries (three with a fat flap and two without any reconstructions), abnormal FDG uptake was not observed at the postoperative bed.CT features of postoperative sites included: non-homogeneous mixed iso/hyperdense structures (hollow or filled) with multiple surrounding and/or inside air bubbles ("sponge appearance") and mucosal thickening along the postoperative bed wall (in all cases with obturator implants); rich fat density material in reconstructions with a fat flap and in closures without reconstruction, and radiopaque elongated structures in mesh reconstructions.No correlation was found of the mean SUVmax in initial scans, with the time from the surgery date (10 ± 6 months; r=0.04, P=0.90), or with the mean SUVmax in final scans (at 25± 17 months, P=0.17). CONCLUSIONS:: Increased FDG uptake, together with corresponding non-specific CT features, may persist for a prolonged period after surgery with obturators and mesh implantations, mimicking malignancy or infection. Awareness of variations in postoperative PET-CT appearance can help avoid false interpretations and redundant invasive procedures.
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Fluorodesoxiglucosa F18 , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Masculino , Tomografía de Emisión de Positrones , Radiofármacos , Estudios RetrospectivosRESUMEN
Inborn errors of TLR3-dependent IFN-α/ß- and IFN-λ-mediated immunity in the CNS can underlie herpes simplex virus 1 (HSV-1) encephalitis (HSE). The respective contributions of IFN-α/ß and IFN-λ are unknown. We report a child homozygous for a genomic deletion of the entire coding sequence and part of the 3'-UTR of the last exon of IFNAR1, who died of HSE at the age of 2 years. An older cousin died following vaccination against measles, mumps, and rubella at 12 months of age, and another 17-year-old cousin homozygous for the same variant has had other, less severe, viral illnesses. The encoded IFNAR1 protein is expressed on the cell surface but is truncated and cannot interact with the tyrosine kinase TYK2. The patient's fibroblasts and EBV-B cells did not respond to IFN-α2b or IFN-ß, in terms of STAT1, STAT2, and STAT3 phosphorylation or the genome-wide induction of IFN-stimulated genes. The patient's fibroblasts were susceptible to viruses, including HSV-1, even in the presence of exogenous IFN-α2b or IFN-ß. HSE is therefore a consequence of inherited complete IFNAR1 deficiency. This viral disease occurred in natural conditions, unlike those previously reported in other patients with IFNAR1 or IFNAR2 deficiency. This experiment of nature indicates that IFN-α/ß are essential for anti-HSV-1 immunity in the CNS.
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Encefalitis por Herpes Simple , Herpesvirus Humano 1/metabolismo , Receptor de Interferón alfa y beta/deficiencia , Adolescente , Preescolar , Encefalitis por Herpes Simple/genética , Encefalitis por Herpes Simple/metabolismo , Encefalitis por Herpes Simple/patología , Células HEK293 , Herpesvirus Humano 1/genética , Humanos , Interferones/genética , Interferones/metabolismo , Masculino , Receptor de Interferón alfa y beta/metabolismoRESUMEN
We present a case of reversible extensive ischemic injury seen on fetal-brain MRI in a fetus following laser coagulation performed for treatment of severe twin-twin transfusion syndrome twin-twin transfusion syndrome. A 32-year-old pregnant mother presented with twin-twin transfusion syndrome. Following fetoscopic laser coagulation, intrauterine fetal death of the donor fetus was diagnosed. On fetal-brain MRI, multiple areas of restricted diffusion were noted, consistent with acute infarctions. Nevertheless, follow-up MRI showed only subtle parenchymal injury, also confirmed on postnatal brain MRI. Our case illustrates that ischemic injury, as depicted on diffusion-weighted imaging, might be reversible, possibly with reperfusion before irreversible insult follows. Two to 3 weeks follow-up fetal MRI might provide additional information on the extent of irreversible injury in cases of restricted diffusion seen on initial fetal-brain MRI and might assist in parental counseling regarding long-term sequela.