An artificial intelligence-accelerated 2-minute multi-shot echo planar imaging protocol for comprehensive high-quality clinical brain imaging.

PURPOSE: We introduce and validate an artificial intelligence (AI)-accelerated multi-shot echo-planar imaging (msEPI)-based method that provides T1w, T2w, T2∗ , T2-FLAIR, and DWI images with high SNR, high tissue contrast, low specific absorption rates (SAR), and minimal distortion in 2 minutes. METHODS: The rapid imaging technique combines a novel machine learning (ML) scheme to limit g-factor noise amplification and improve SNR, a magnetization transfer preparation module to provide clinically desirable contrast, and high per-shot EPI undersampling factors to reduce distortion. The ML training and image reconstruction incorporates a tunable parameter for controlling the level of denoising/smoothness. The performance of the reconstruction method is evaluated across various acceleration factors, contrasts, and SNR conditions. The 2-minute protocol is directly compared to a 10-minute clinical reference protocol through deployment in a clinical setting, where five representative cases with pathology are examined. RESULTS: Optimization of custom msEPI sequences and protocols was performed to balance acquisition efficiency and image quality compared to the five-fold longer clinical reference. Training data from 16 healthy subjects across multiple contrasts and orientations were used to produce ML networks at various acceleration levels. The flexibility of the ML reconstruction was demonstrated across SNR levels, and an optimized regularization was determined through radiological review. Network generalization toward novel pathology, unobserved during training, was illustrated in five clinical case studies with clinical reference images provided for comparison. CONCLUSION: The rapid 2-minute msEPI-based protocol with tunable ML reconstruction allows for advantageous trade-offs between acquisition speed, SNR, and tissue contrast when compared to the five-fold slower standard clinical reference exam.

Clinical validation of Wave-CAIPI susceptibility-weighted imaging for routine brain MRI at 1.5 T.

OBJECTIVES: Wave-CAIPI (Controlled Aliasing in Parallel Imaging) enables dramatic reduction in acquisition time of 3D MRI sequences such as 3D susceptibility-weighted imaging (SWI) but has not been clinically evaluated at 1.5 T. We sought to compare highly accelerated Wave-CAIPI SWI (Wave-SWI) with two alternative standard sequences, conventional three-dimensional SWI and two-dimensional T2*-weighted Gradient-Echo (T2*w-GRE), in patients undergoing routine brain MRI at 1.5 T. METHODS: In this study, 172 patients undergoing 1.5 T brain MRI were scanned with a more commonly used susceptibility sequence (standard SWI or T2*w-GRE) and a highly accelerated Wave-SWI sequence. Two radiologists blinded to the acquisition technique scored each sequence for visualization of pathology, motion and signal dropout artifacts, image noise, visualization of normal anatomy (vessels and basal ganglia mineralization), and overall diagnostic quality. Superiority testing was performed to compare Wave-SWI to T2*w-GRE, and non-inferiority testing with 15% margin was performed to compare Wave-SWI to standard SWI. RESULTS: Wave-SWI performed superior in terms of visualization of pathology, signal dropout artifacts, visualization of normal anatomy, and overall image quality when compared to T2*w-GRE (all p < 0.001). Wave-SWI was non-inferior to standard SWI for visualization of normal anatomy and pathology, signal dropout artifacts, and overall image quality (all p < 0.001). Wave-SWI was superior to standard SWI for motion artifact (p < 0.001), while both conventional susceptibility sequences were superior to Wave-SWI for image noise (p < 0.001). CONCLUSIONS: Wave-SWI can be performed in a 1.5 T clinical setting with robust performance and preservation of diagnostic quality. KEY POINTS: • Wave-SWI accelerated the acquisition of 3D high-resolution susceptibility images in 70% of the acquisition time of the conventional T2*GRE. • Wave-SWI performed superior to T2*w-GRE for visualization of pathology, signal dropout artifacts, and overall diagnostic image quality. • Wave-SWI was noninferior to standard SWI for visualization of normal anatomy and pathology, signal dropout artifacts, and overall diagnostic image quality.

"All-in-one" window/level whole-body computed tomography scan - A faster way to evaluate trauma cases.

PURPOSE: To investigate the accuracy and total assessment time (TAT) of the "All-in-one" (AIO)-window/level setting for whole-body computed tomography (CT) image compared to multiple tissue-specific window/level settings conventionally used for detection of traumatic injuries. METHOD: Contrast-enhanced chest, abdomen, and pelvic CT scans of 50 patients who presented to our emergency department (ED) for major trauma were retrospectively selected. In a simulation of a "wet read" performed at the CT scanner console, 6 readers with different levels of experience had up to 3 min to describe any traumatic finding identified on the CTs. The readers reviewed each patient in two different sessions separated by a washout period to suppress any recall bias from one session to the next. Each scan was reviewed once using the AIO-window/level setting and another time using the conventional bone, lung, and soft tissue window/level display settings, in a randomized order. The CT reports were used as reference standard. RESULTS: Overall, there was no statistically significant difference in the assessment accuracy of the review based on the AIO or the conventional window/level settings (0.89 ± 0.09 vs 0.90 ± 0.08). Using the AIO-window/level settings, TAT was 14.3 s faster when compared with the conventional window/level settings (2.33 ± 0.63 vs 2.57 ± 0.51 min; p < 0.001). CONCLUSIONS: In a time-delimited image review, similar diagnostic accuracy was reached faster using the AIO vs the conventional window/level settings. When providing a "wet read" at the CT console, the ability to identify traumatic injury using a single AIO-window/level may help expedite patient management.

Evaluation of highly accelerated wave controlled aliasing in parallel imaging (Wave-CAIPI) susceptibility-weighted imaging in the non-sedated pediatric setting: a pilot study.

BACKGROUND: Susceptibility-weighted imaging (SWI) is highly sensitive for intracranial hemorrhagic and mineralized lesions but is associated with long scan times. Wave controlled aliasing in parallel imaging (Wave-CAIPI) enables greater acceleration factors and might facilitate broader application of SWI, especially in motion-prone populations. OBJECTIVE: To compare highly accelerated Wave-CAIPI SWI to standard SWI in the non-sedated pediatric outpatient setting, with respect to the following variables: estimated scan time, image noise, artifacts, visualization of normal anatomy and visualization of pathology. MATERIALS AND METHODS: Twenty-eight children (11 girls, 17 boys; mean age ± standard deviation [SD] = 128.3±62 months) underwent 3-tesla (T) brain MRI, including standard three-dimensional (3-D) SWI sequence followed by a highly accelerated Wave-CAIPI SWI sequence for each subject. We rated all studies using a predefined 5-point scale and used the Wilcoxon signed rank test to assess the difference for each variable between sequences. RESULTS: Wave-CAIPI SWI provided a 78% and 67% reduction in estimated scan time using the 32- and 20-channel coils, respectively, corresponding to estimated scan time reductions of 3.5 min and 3 min, respectively. All 28 children were imaged without anesthesia. Inter-reader agreement ranged from fair to substantial (k=0.67 for evaluation of pathology, 0.55 for anatomical contrast, 0.3 for central noise, and 0.71 for artifacts). Image noise was rated higher in the central brain with wave SWI (P<0.01), but not in the peripheral brain. There was no significant difference in the visualization of normal anatomical structures and visualization of pathology between the standard and wave SWI sequences (P=0.77 and P=0.79, respectively). CONCLUSION: Highly accelerated Wave-CAIPI SWI of the brain can provide similar image quality to standard SWI, with estimated scan time reduction of 3-3.5 min depending on the radiofrequency coil used, with fewer motion artifacts, at a cost of mild but perceptibly increased noise in the central brain.

Comparison of ultrafast wave-controlled aliasing in parallel imaging (CAIPI) magnetization-prepared rapid acquisition gradient echo (MP-RAGE) and standard MP-RAGE in non-sedated children: initial clinical experience.

BACKGROUND: Fast magnetic resonance imaging (MRI) sequences are advantageous in pediatric imaging as they can lessen child discomfort, decrease motion artifact and improve scanner availability. OBJECTIVE: To evaluate the feasibility of an ultrafast wave-CAIPI (controlled aliasing in parallel imaging) MP-RAGE (magnetization-prepared rapid gradient echo) sequence for brain imaging of awake pediatric patients. MATERIALS AND METHODS: Each MRI included a standard MP-RAGE sequence and an ultrafast wave-MP-RAGE sequence. Two neuroradiologists evaluated both sequences in terms of artifacts, noise, anatomical contrast and pathological contrast. A predefined 5-point scale was used by two independent pediatric neuroradiologists. A Wilcoxon signed-rank test was used to evaluate the difference between sequences for each variable. RESULTS: Twenty-four patients (14 males; mean age: 11.5±4.5 years, range: 1 month to 17.8 years) were included. Wave-CAIPI MP-RAGE provided a 77% reduction in scan time using a 32-channel coil and a 70% reduction using a 20-channel coil. Visualization of the pathology, artifacts and pathological enhancement (including parenchymal, leptomeningeal and dural enhancement) was not significantly different between standard MP-RAGE and wave-CAIPI MP-RAGE (all P>0.05). For central (P<0.001) and peripheral (P<0.001) noise, and the evaluation of the anatomical structures (P<0.001), the observers favored standard MP-RAGE over wave-CAIPI MP-RAGE. CONCLUSION: Ultrafast brain imaging with wave-CAIPI MP-RAGE is feasible in awake pediatric patients, providing a substantial reduction in scan time at a cost of subjectively increased image noise.

Highly-accelerated volumetric brain examination using optimized wave-CAIPI encoding.

BACKGROUND: Rapid volumetric imaging protocols could better utilize limited scanner resources. PURPOSE: To develop and validate an optimized 6-minute high-resolution volumetric brain MRI examination using Wave-CAIPI encoding. STUDY TYPE: Prospective. POPULATION/SUBJECTS: Ten healthy subjects and 20 patients with a variety of intracranial pathologies. FIELD STRENGTH/SEQUENCE: At 3 T, MPRAGE, T2 -weighted SPACE, SPACE FLAIR, and SWI were acquired at 9-fold acceleration using Wave-CAIPI and for comparison at 2-4-fold acceleration using conventional GRAPPA. ASSESSMENT: Extensive simulations were performed to optimize the Wave-CAIPI protocol and minimize both g-factor noise amplification and potential T1 /T2 blurring artifacts. Moreover, refinements in the autocalibrated reconstruction of Wave-CAIPI were developed to ensure high-quality reconstructions in the presence of gradient imperfections. In a randomized and blinded fashion, three neuroradiologists assessed the diagnostic quality of the optimized 6-minute Wave-CAIPI exam and compared it to the roughly 3× slower GRAPPA accelerated protocol using both an individual and head-to-head analysis. STATISTICAL TEST: A noninferiority test was used to test whether the diagnostic quality of Wave-CAIPI was noninferior to the GRAPPA acquisition, with a 15% noninferiority margin. RESULTS: Among all sequences, Wave-CAIPI achieved negligible g-factor noise amplification (gavg ≤ 1.04) and burring artifacts from T1 /T2 relaxation. Improvements of our autocalibration approach for gradient imperfections enabled increased robustness to gradient mixing imperfections in tilted-field of view (FOV) prescriptions as well as variations in gradient and analog-to-digital converter (ADC) sampling rates. In the clinical evaluation, Wave-CAIPI achieved similar mean scores when compared with GRAPPA (MPRAGE: ØW = 4.03, ØG = 3.97; T2 w SPACE: ØW = 4.00, ØG = 4.00; SPACE FLAIR: ØW = 3.97, ØG = 3.97; SWI: ØW = 3.93, ØG = 3.83) and was statistically noninferior (N = 30, P < 0.05 for all sequences). DATA CONCLUSION: The proposed volumetric brain exam retained comparable image quality when compared with the much longer conventional protocol. LEVEL OF EVIDENCE: 2 Technical Efficacy: Stage 1 J. Magn. Reson. Imaging 2019;50:961-974.

Clinical Evaluation of a 2-Minute Ultrafast Brain MR Protocol for Evaluation of Acute Pathology in the Emergency and Inpatient Settings.

BACKGROUND AND PURPOSE: The use of MR imaging in emergency settings has been limited by availability, long scan times, and sensitivity to motion. This study assessed the diagnostic performance of an ultrafast brain MR imaging protocol for evaluation of acute intracranial pathology in the emergency department and inpatient settings. MATERIALS AND METHODS: Sixty-six adult patients who underwent brain MR imaging in the emergency department and inpatient settings were included in the study. All patients underwent both the reference and the ultrafast brain MR protocols. Both brain MR imaging protocols consisted of T1-weighted, T2/T2*-weighted, FLAIR, and DWI sequences. The ultrafast MR images were reconstructed by using a machine-learning assisted framework. All images were reviewed by 2 blinded neuroradiologists. RESULTS: The average acquisition time was 2.1 minutes for the ultrafast brain MR protocol and 10 minutes for the reference brain MR protocol. There was 98.5% agreement on the main clinical diagnosis between the 2 protocols. In head-to-head comparison, the reference protocol was preferred in terms of image noise and geometric distortion (P < .05 for both). The ultrafast ms-EPI protocol was preferred over the reference protocol in terms of reduced motion artifacts (P < .01). Overall diagnostic quality was not significantly different between the 2 protocols (P > .05). CONCLUSIONS: The ultrafast brain MR imaging protocol provides high accuracy for evaluating acute pathology while only requiring a fraction of the scan time. Although there was greater image noise and geometric distortion on the ultrafast brain MR protocol images, there was significant reduction in motion artifacts with similar overall diagnostic quality between the 2 protocols.

Pediatric Emergency MRI.

There is an overall increase in the use of imaging in the pediatric emergency room setting, which is accompanied by a reduction in computed tomography examinations performed mainly due to the increased awareness of the risks of ionizing radiation. Advances in MRI technology have led to shortened scan time, decreased motion sensitivity, and improved spatial resolution. With increased access to MRI in the emergency room setting, the goal of this article is to review major applications of MR in pediatric emergency room patients.

Accurate auto-labeling of chest X-ray images based on quantitative similarity to an explainable AI model.

The inability to accurately, efficiently label large, open-access medical imaging datasets limits the widespread implementation of artificial intelligence models in healthcare. There have been few attempts, however, to automate the annotation of such public databases; one approach, for example, focused on labor-intensive, manual labeling of subsets of these datasets to be used to train new models. In this study, we describe a method for standardized, automated labeling based on similarity to a previously validated, explainable AI (xAI) model-derived-atlas, for which the user can specify a quantitative threshold for a desired level of accuracy (the probability-of-similarity, pSim metric). We show that our xAI model, by calculating the pSim values for each clinical output label based on comparison to its training-set derived reference atlas, can automatically label the external datasets to a user-selected, high level of accuracy, equaling or exceeding that of human experts. We additionally show that, by fine-tuning the original model using the automatically labelled exams for retraining, performance can be preserved or improved, resulting in a highly accurate, more generalized model.

MarkIt: A Collaborative Artificial Intelligence Annotation Platform Leveraging Blockchain For Medical Imaging Research.

Current research on medical image processing relies heavily on the amount and quality of input data. Specifically, supervised machine learning methods require well-annotated datasets. A lack of annotation tools limits the potential to achieve high-volume processing and scaled systems with a proper reward mechanism. We developed MarkIt, a web-based tool, for collaborative annotation of medical imaging data with artificial intelligence and blockchain technologies. Our platform handles both Digital Imaging and Communications in Medicine (DICOM) and non-DICOM images, and allows users to annotate them for classification and object detection tasks in an efficient manner. MarkIt can accelerate the annotation process and keep track of user activities to calculate a fair reward. A proof-of-concept experiment was conducted with three fellowship-trained radiologists, each of whom annotated 1,000 chest X-ray studies for multi-label classification. We calculated the inter-rater agreement and estimated the value of the dataset to distribute the reward for annotators using a crypto currency. We hypothesize that MarkIt allows the typically arduous annotation task to become more efficient. In addition, MarkIt can serve as a platform to evaluate the value of data and trade the annotation results in a more scalable manner in the future. The platform is publicly available for testing on https://markit.mgh.harvard.edu.

Accelerated Post-contrast Wave-CAIPI T1 SPACE Achieves Equivalent Diagnostic Performance Compared With Standard T1 SPACE for the Detection of Brain Metastases in Clinical 3T MRI.

Background and Purpose: Brain magnetic resonance imaging (MRI) examinations using high-resolution 3D post-contrast sequences offer increased sensitivity for the detection of metastases in the central nervous system but are usually long exams. We evaluated whether the diagnostic performance of a highly accelerated Wave-controlled aliasing in parallel imaging (Wave-CAIPI) post-contrast 3D T1 SPACE sequence was non-inferior to the standard high-resolution 3D T1 SPACE sequence for the evaluation of brain metastases. Materials and Methods: Thirty-three patients undergoing evaluation for brain metastases were prospectively evaluated with a standard post-contrast 3D T1 SPACE sequence and an optimized Wave-CAIPI 3D T1 SPACE sequence, which was three times faster than the standard sequence. Two blinded neuroradiologists performed a head-to-head comparison to evaluate the visualization of pathology, perception of artifacts, and the overall diagnostic quality. Wave-CAIPI post-contrast T1 SPACE was tested for non-inferiority relative to standard T1 SPACE using a 15% non-inferiority margin. Results: Wave-CAIPI post-contrast T1 SPACE was non-inferior to the standard T1 SPACE for visualization of enhancing lesions (P < 0.01) and offered equivalent diagnostic quality performance and only marginally higher background noise compared to the standard sequence. Conclusions: Our findings suggest that Wave-CAIPI post-contrast T1 SPACE provides equivalent visualization of pathology and overall diagnostic quality with three times reduced scan time compared to the standard 3D T1 SPACE.

Effect of Transcranial Low-Level Light Therapy vs Sham Therapy Among Patients With Moderate Traumatic Brain Injury: A Randomized Clinical Trial.

Importance: Preclinical studies have shown that transcranial near-infrared low-level light therapy (LLLT) administered after traumatic brain injury (TBI) confers a neuroprotective response. Objectives: To assess the feasibility and safety of LLLT administered acutely after a moderate TBI and the neuroreactivity to LLLT through quantitative magnetic resonance imaging metrics and neurocognitive assessment. Design, Setting, and Participants: A randomized, single-center, prospective, double-blind, placebo-controlled parallel-group trial was conducted from November 27, 2015, through July 11, 2019. Participants included 68 men and women with acute, nonpenetrating, moderate TBI who were randomized to LLLT or sham treatment. Analysis of the response-evaluable population was conducted. Interventions: Transcranial LLLT was administered using a custom-built helmet starting within 72 hours after the trauma. Magnetic resonance imaging was performed in the acute (within 72 hours), early subacute (2-3 weeks), and late subacute (approximately 3 months) stages of recovery. Clinical assessments were performed concomitantly and at 6 months via the Rivermead Post-Concussion Questionnaire (RPQ), a 16-item questionnaire with each item assessed on a 5-point scale ranging from 0 (no problem) to 4 (severe problem). Main Outcomes and Measures: The number of participants to successfully and safely complete LLLT without any adverse events within the first 7 days after the therapy was the primary outcome measure. Secondary outcomes were the differential effect of LLLT on MR brain diffusion parameters and RPQ scores compared with the sham group. Results: Of the 68 patients who were randomized (33 to LLLT and 35 to sham therapy), 28 completed at least 1 LLLT session. No adverse events referable to LLLT were reported. Forty-three patients (22 men [51.2%]; mean [SD] age, 50.49 [17.44] years]) completed the study with at least 1 magnetic resonance imaging scan: 19 individuals in the LLLT group and 24 in the sham treatment group. Radial diffusivity (RD), mean diffusivity (MD), and fractional anisotropy (FA) showed significant time and treatment interaction at 3-month time point (RD: 0.013; 95% CI, 0.006 to 0.019; P < .001; MD: 0.008; 95% CI, 0.001 to 0.015; P = .03; FA: -0.018; 95% CI, -0.026 to -0.010; P < .001).The LLLT group had lower RPQ scores, but this effect did not reach statistical significance (time effect P = .39, treatment effect P = .61, and time × treatment effect P = .91). Conclusions and Relevance: In this randomized clinical trial, LLLT was feasible in all patients and did not exhibit any adverse events. Light therapy altered multiple diffusion tensor parameters in a statistically significant manner in the late subacute stage. This study provides the first human evidence to date that light therapy engages neural substrates that play a role in the pathophysiologic factors of moderate TBI and also suggests diffusion imaging as the biomarker of therapeutic response. Trial Registration: ClinicalTrials.gov Identifier: NCT02233413.

Therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy: magnetic resonance imaging findings and neurological outcomes in a Brazilian cohort.

OBJECTIVE: To determine the neurodevelopment outcomes after therapeutic hypothermia for neonatal hypoxic-ischemic encephalopathy (HIE) and identify the neonatal magnetic resonance imaging (MRI) findings associated with neurological outcome in a middle-income country. STUDY DESIGN: All infants born after 35 completed weeks' gestation with signs of moderate to severe encephalopathy and evidence of perinatal asphyxia before 6 hours of life were submitted to whole-body hypothermia and were imaged at 18 ± 8.4 days of life (range 7-33 days) after birth. Surviving infants had the neurodevelopment outcome assessed at 12 to 18 months of age by trained professional masked to MRI findings. RESULTS: Forty-eight infants included, MRI scans were obtained from 34 infants; 14 (29.1%) patients died during hospitalization before MRI was performed. Nine (64.3%) of 14 patients were classified as severe encephalopathy presented Posterior Limb Internal Capsule (PLIC) sign at the MRI, 10 (71.4%) thalamus and basal ganglia (TBG) lesion, 9 (64.3%) white matter (WM) lesion, and 7 (50.0%) cortical lesion. Severe encephalopathy was associated with the motor delay at 12-18 months by Bayley III, Alberta Infant Motor Scale (AIMS), and Gross Motor Function Classification System (GMFCS) scores (p = .020, p = .048, p = .033, respectively), but not for the cognitive (p = .167) or language skills (p = .309). Lower BSID-III motor, cognitive, and language composite scores were associated with PLIC sign (p = .047; p = .006 and p = .003, respectively). TBG lesion (p = .051) and cortical lesion (p = .030) were associated with lower language composite score. Motor delay by AIMS and the presence of PLIC sign, TBG lesion, WM lesion, and Cortical lesion on MRI were observed (p < .001; p = .002; p = .001 and p = .027, respectively); as well as higher GMFCS score were associated with the presence of PLIC sign, TBG lesion, WM lesion, and Cortical lesion on MRI (p < .001; p = .001; p = .001, and p = .011, respectively). CONCLUSIONS: Brain MRI in neonates with HIE after therapeutic hypothermia is a valuable tool for diagnosis of encephalopathy cerebral abnormalities and is an early predictor of outcome in infants treated with whole body hypothermia for HIE in the Brazilian experience.

Computed Tomography Evaluation of the Correspondence Between the Arcuate Eminence and the Superior Semicircular Canal.

BACKGROUND: The arcuate eminence (AE) has been traditionally used in middle cranial fossa (MCF) surgery as a guide to accurate location of the superior semicircular canal (SSC) deep within the temporal bone. However, the anatomic relationship between the AE and SSC is controversial. We evaluated the anatomic coincidence between the AE and the SSC in the MCF surface. Distances between the most relevant anatomic structures in the MCF and prevalence of SSC dehiscence were measured. METHODS: We analyzed 75 (150 sides) 0.75-mm slice thickness temporal bone computed tomography scans and classified the AE and SSC relationship as coincident and noncoincident. Radiologic findings were reported independently in a blind fashion by 2 authors. Data were presented as mean ± SD or frequency and percentage. Student t test or an unequal variance t test was used. Interobserver agreement among readings was assessed using κ statistic for categorical variables and intraclass Kendall tau-a correlations for continuous measures. P < 0.05 was considered to indicate statistical significance. RESULTS: The AE matched the SSC in only 31.3% of cases. The AE could be localized as lateral as 11.6 mm from the SSC. It was impossible to identify the AE in 33 scans (22.0%). SSC dehiscence was found in 5 cases (3.3%). A few millimeters separated most analyzed landmarks, and a wide variability in secondary measurements was observed. CONCLUSIONS: The AE does not systematically overlie the SSC and should not be routinely used as a reference to reach this structure in MCF surgery.

Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

BACKGROUND: Very little is known about the incidence and prevalence of hydrocephalus in patients with mucopolysaccharidoses (MPS). The biggest challenge is to distinguish communicating hydrocephalus from ventricular dilatation secondary to brain atrophy, because both conditions share common clinical and neuroradiological features. The main purpose of this study is to assess the relationship between ventriculomegaly, brain and cerebrospinal fluid (CSF) volumes, aqueductal and cervical CSF flows, and CSF opening pressure in MPS patients, and to provide potential biomarkers for abnormal CSF circulation. METHODS: Forty-three MPS patients (12 MPS I, 15 MPS II, 5 MPS III, 9 MPS IV A and 2 MPS VI) performed clinical and developmental tests, and T1, T2, FLAIR and phase-contrast magnetic resonance imaging (MRI) followed by a lumbar puncture with the CSF opening pressure assessment. For the analysis of MRI variables, we measured the brain and CSF volumes, white matter (WM) lesion load, Evans' index, third ventricle width, callosal angle, dilated perivascular spaces (PVS), craniocervical junction stenosis, aqueductal and cervical CSF stroke volumes, and CSF glycosaminoglycans concentration. RESULTS: All the scores used to assess the supratentorial ventricles enlargement and the ventricular CSF volume presented a moderate correlation with the aqueductal CSF stroke volume (ACSV). The CSF opening pressure did not correlate either with the three measures of ventriculomegaly, or the ventricular CSF volume, or with the ACSV. Dilated PVS showed a significant association with the ventriculomegaly, ventricular CSF volume and elevated ACSV. CONCLUSIONS: In MPS patients ventriculomegaly is associated with a severe phenotype, increased cognitive decline, WM lesion severity and enlarged PVS. The authors have shown that there are associations between CSF flow measurements and measurements related to CSF volumetrics. There was also an association of volumetric measurements with the degree of dilated PVS.

Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses.

After publication of the article [1], it has been brought to our attention that the full funding acknowledgement is missing from the original article.

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.

In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.

Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system.

In this article, an update is presented of the correlation of imaging and genetic findings in congenital malformations of the central nervous system (CMCNS). A nonsystematic search of the PubMed/Medline database was performed. The congenital disorders were classified in 3 groups of malformation: ventral induction disorders, cortical malformations, and congenital malformations of the posterior fossa. The highlights of genotype-imaging phenotype correlation of some congenital malformations are provided. It is hoped that developments in genotype-MR phenotype in CMCNS will foster further prognostic and pathogenic breakthroughs for the frequently associated neurologic dysfunction in children affected by these common diseases.