MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study.

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve. OBJECTIVES: To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease). METHODS: In this prospective multicenter study, 3D-T1-weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters. RESULTS: The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut-off value equal to 1.67 of the pons-to-superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7. CONCLUSIONS: Evaluation of the pons-to-superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI-ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

OBJECTIVE: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature. METHODS: Patients harboring de novo DYNC1H1 pathogenic variants were recruited through international collaborations. Clinical data were retrospectively collected. Latent class analysis was performed to identify subphenotypes. Multivariable binary logistic regression analysis was applied to investigate the association with DYNC1H1 protein domains. RESULTS: DYNC1H1-related epilepsy presented with infantile epileptic spasms syndrome (IESS) in 17 subjects (50%), and in 25% of these individuals the epileptic phenotype evolved into Lennox-Gastaut syndrome (LGS). In 12 patients (35%), focal onset epilepsy was defined. In two patients, the epileptic phenotype consisted of generalized myoclonic epilepsy, with a progressive phenotype in one individual harboring a frameshift variant. In approximately 60% of our cohort, seizures were drug-resistant. Malformations of cortical development were noticed in 79% of our patients, mostly on the lissencephaly-pachygyria spectrum, particularly with posterior predominance in a half of them. Midline and infratentorial abnormalities were additionally reported in 45% and 27% of subjects. We have identified three main classes of subphenotypes on the DYNC1H1-related epilepsy spectrum. SIGNIFICANCE: We propose a classification in which pathogenic de novo DYNC1H1 variants feature drug-resistant IESS in half of cases with potential evolution to LGS (Class 1), developmental and epileptic encephalopathy other than IESS and LGS (Class 2), or less severe focal or genetic generalized epilepsy including a progressive phenotype (Class 3). We observed an association between stalk domain variants and Class 1 phenotypes. The variants p.Arg309His and p.Arg1962His were common and associated with Class 1 subphenotype in our cohort. These findings may aid genetic counseling of patients with DYNC1H1-related epilepsy.

Reproducibility of radiomics quality score: an intra- and inter-rater reliability study.

OBJECTIVES: To investigate the intra- and inter-rater reliability of the total radiomics quality score (RQS) and the reproducibility of individual RQS items' score in a large multireader study. METHODS: Nine raters with different backgrounds were randomly assigned to three groups based on their proficiency with RQS utilization: Groups 1 and 2 represented the inter-rater reliability groups with or without prior training in RQS, respectively; group 3 represented the intra-rater reliability group. Thirty-three original research papers on radiomics were evaluated by raters of groups 1 and 2. Of the 33 papers, 17 were evaluated twice with an interval of 1 month by raters of group 3. Intraclass coefficient (ICC) for continuous variables, and Fleiss' and Cohen's kappa (k) statistics for categorical variables were used. RESULTS: The inter-rater reliability was poor to moderate for total RQS (ICC 0.30-055, p < 0.001) and very low to good for item's reproducibility (k - 0.12 to 0.75) within groups 1 and 2 for both inexperienced and experienced raters. The intra-rater reliability for total RQS was moderate for the less experienced rater (ICC 0.522, p = 0.009), whereas experienced raters showed excellent intra-rater reliability (ICC 0.91-0.99, p < 0.001) between the first and second read. Intra-rater reliability on RQS items' score reproducibility was higher and most of the items had moderate to good intra-rater reliability (k - 0.40 to 1). CONCLUSIONS: Reproducibility of the total RQS and the score of individual RQS items is low. There is a need for a robust and reproducible assessment method to assess the quality of radiomics research. CLINICAL RELEVANCE STATEMENT: There is a need for reproducible scoring systems to improve quality of radiomics research and consecutively close the translational gap between research and clinical implementation. KEY POINTS: • Radiomics quality score has been widely used for the evaluation of radiomics studies. • Although the intra-rater reliability was moderate to excellent, intra- and inter-rater reliability of total score and point-by-point scores were low with radiomics quality score. • A robust, easy-to-use scoring system is needed for the evaluation of radiomics research.

The Current Diagnostic Performance of MRI-Based Radiomics for Glioma Grading: A Meta-Analysis.

BACKGROUND: Multiple radiomics models have been proposed for grading glioma using different algorithms, features, and sequences of magnetic resonance imaging. The research seeks to assess the present overall performance of radiomics for grading glioma. METHODS: A systematic literature review of the databases Ovid MEDLINE PubMed, and Ovid EMBASE for publications published on radiomics for glioma grading between 2012 and 2023 was performed. The systematic review was carried out following the criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis. RESULTS: In the meta-analysis, a total of 7654 patients from 40 articles, were assessed. R-package mada was used for modeling the joint estimates of specificity (SPE) and sensitivity (SEN). Pooled event rates across studies were performed with a random-effects meta-analysis. The heterogeneity of SPE and SEN were based on the χ2 test. Overall values for SPE and SEN in the differentiation between high-grade gliomas (HGGs) and low-grade gliomas (LGGs) were 84% and 91%, respectively. With regards to the discrimination between World Health Organization (WHO) grade 4 and WHO grade 3, the overall SPE was 81% and the SEN was 89%. The modern non-linear classifiers showed a better trend, whereas textural features tend to be the best-performing (29%) and the most used. CONCLUSIONS: Our findings confirm that present radiomics' diagnostic performance for glioma grading is superior in terms of SEN and SPE for the HGGs vs. LGGs discrimination task when compared to the WHO grade 4 vs. 3 task.

Systematic review of the radiomics quality score applications: an EuSoMII Radiomics Auditing Group Initiative.

OBJECTIVE: The main aim of the present systematic review was a comprehensive overview of the Radiomics Quality Score (RQS)-based systematic reviews to highlight common issues and challenges of radiomics research application and evaluate the relationship between RQS and review features. METHODS: The literature search was performed on multiple medical literature archives according to PRISMA guidelines for systematic reviews that reported radiomic quality assessment through the RQS. Reported scores were converted to a 0-100% scale. The Mann-Whitney and Kruskal-Wallis tests were used to compare RQS scores and review features. RESULTS: The literature research yielded 345 articles, from which 44 systematic reviews were finally included in the analysis. Overall, the median of RQS was 21.00% (IQR = 11.50). No significant differences of RQS were observed in subgroup analyses according to targets (oncological/not oncological target, neuroradiology/body imaging focus and one imaging technique/more than one imaging technique, characterization/prognosis/detection/other). CONCLUSIONS: Our review did not reveal a significant difference of quality of radiomic articles reported in systematic reviews, divided in different subgroups. Furthermore, low overall methodological quality of radiomics research was found independent of specific application domains. While the RQS can serve as a reference tool to improve future study designs, future research should also be aimed at improving its reliability and developing new tools to meet an ever-evolving research space. KEY POINTS: • Radiomics is a promising high-throughput method that may generate novel imaging biomarkers to improve clinical decision-making process, but it is an inherently complex analysis and often lacks reproducibility and generalizability. • The Radiomics Quality Score serves a necessary role as the de facto reference tool for assessing radiomics studies. • External auditing of radiomics studies, in addition to the standard peer-review process, is valuable to highlight common limitations and provide insights to improve future study designs and practical applicability of the radiomics models.

Neoplasms and tumor-like lesions of the sellar region: imaging findings with correlation to pathology and 2021 WHO classification.

The sellar region represents a complex anatomical area, composed of multiple structures of different embryological derivation, including the skull base and the pituitary gland, along with vascular, nervous, and meningeal structures. Masses arising in this region include benign and malignant lesions arising from the pituitary gland itself, but also from vestigial embryological residues or surrounding tissues, that may require different therapeutic approaches. While assessing sellar region masses, the combination of clinical presentation and imaging features is fundamental to define hypotheses about their nature. MR represents the imaging modality of choice, providing information about the site of the lesion, its imaging features, and relation with adjacent structures, while CT is useful to confirm the presence of lesion calcifications or to reveal tumor invasion of bony structures. The aim of this pictorial review is to provide an overview of the common neoplasms and tumor-like conditions of the sellar region, according to the 2021 WHO Classification of Tumors of the Central Nervous System (fifth edition), with an emphasis on the radiologic-pathologic correlation. After a brief introduction on the anatomy of this region and the imaging and pathological techniques currently used, the most relevant MRI characteristics, clinical findings, and pathological data, including histologic and molecular features, will be shown and discussed, with the aim of facilitating an appropriate differential diagnosis among these entities.

MRI and steroid-responsive encephalopathy associated with autoimmune thyroiditis: first report of conus medullaris involvement and literature review of the known neuroimaging profiles.

BACKGROUND: Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT) is a rare but potentially reversible autoimmune encephalopathy. The most frequent neuroimaging correlates are normal brain MRI or non-specific white matter hyperintensities. METHODS: We present the first description of conus medullaris involvement, also providing an extensive review of MRI patterns described so far. RESULTS: Our results show that in less than 30% of cases, it is possible to find focal SREAT neuroanatomical correlates. Among these, T2w/FLAIR temporal hyperintensities are the most frequent, followed by basal ganglia/thalamic and brainstem involvement, respectively. CONCLUSIONS: Unfortunately, spinal cord investigation is an uncommon practice in the diagnostic approach of encephalopathies, thus neglecting potential pathological lesions of the medulla spinalis. In our opinion, the extension of the MRI study to the cervical, thoracic, and lumbosacral regions may allow finding new, and hopefully specific, anatomical correlates.

Radiologic diagnosis of non-traumatic paediatric head and neck emergencies.

Imaging plays a crucial role in evaluating paediatric patients with non-traumatic head and neck lesions in an emergency setting because clinical manifestations of these entities can overlap. For this reason, radiologists must be familiar with the clinical and imaging findings of prevalent paediatric head and neck emergencies. In this review, we present techniques and imaging clues for common complications of pathological processes in the paediatric head and neck, with a focus on the clinical scenario as a starting point for the radiologic approach.

Temporal bone CT-based anatomical parameters associated with the development of cholesteatoma.

BACKGROUND: Cholesteatoma is caused by disorders of the middle ear ventilation that trigger a progressive series of events responsible for its formation. The aim of this study was to identify possible radiological CT-derived parameters predisposing to ventilation disorders and cholesteatoma. METHODS: In this retrospective study, patients diagnosed with cholesteatomatous chronic otitis media who underwent temporal bone CT and open tympanoplasty surgery have been included, as well as control patients with clinical examination negative for organic otological pathology who underwent temporal bone CT for other reasons. For each patient, the following parameters have been extracted from CT volumes: degree of mastoid pneumatization, prominence of the cog, patency of the Eustachian tube, antrum width, aditus width, anterior and posterior epitympanic widths, and epitympanic height. RESULTS: Sixty patients have been included, thirty of whom belonged to the group of patients with cholesteatoma and the remaining part to the group of patients without organic otological pathology. The prevalence of a low degree of mastoid pneumatization was significantly higher among patients with cholesteatoma, as well as for the prevalence of cog prominence (p < 0.001). All the continuous variables were found to have statistical significance (p < 0.05) in the comparison between groups except for the width of the antrum. CONCLUSION: Mastoid pneumatization degree, prominence of the cog and epitympanic measures based on temporal bone CT could be good radiological correlates of the ventilatory capabilities of the epitympanum which, if compromised, can facilitate the development of cholesteatoma.

Virtual conferences: results of an international survey on radiologist preferences and perspectives.

BACKGROUND: We explored perceptions and preferences regarding the conversion of in-person to virtual conferences as necessitated by travel and in-person meeting restrictions. METHODS: A 16-question online survey to assess preferences regarding virtual conferences during the COVID-19 pandemic and future perspectives on this subject was disseminated internationally online between June and August 2020. FINDINGS: A total of 508 responses were received from 73 countries. The largest number of responses came from Italy and the USA. The majority of respondents had already attended a virtual conference (80%) and would like to attend future virtual meetings (97%). The ideal duration of such an event was 2-3 days (42%). The preferred time format was a 2-4-h session (43%). Most respondents also noted that they would like a significant fee reduction and the possibility to attend a conference partly in-person and partly online. Respondents indicated educational sessions as the most valuable sections of virtual meetings. The reported positive factor of the virtual meeting format is the ability to re-watch lectures on demand. On the other hand, the absence of networking and human contact was recognized as a significant loss. In the future, people expressed a preference to attend conferences in person for networking purposes, but only in safer conditions. CONCLUSIONS: Respondents appreciated the opportunity to attend the main radiological congresses online and found it a good opportunity to stay updated without having to travel. However, in general, they would prefer these conferences to be structured differently. The lack of networking opportunities was the main reason for preferring an in-person meeting. KEY POINTS: • Respondents appreciated the opportunity to attend the main radiological meetings online, considering it a good opportunity to stay updated without having to travel. • In the future, it is likely for congresses to offer attendance options both in person and online, making them more accessible to a larger audience. • Respondents indicated that networking represents the most valuable advantage of in-person conferences compared to online ones.

The impact of radiomics for human papillomavirus status prediction in oropharyngeal cancer: systematic review and radiomics quality score assessment.

PURPOSE: Human papillomavirus (HPV) status assessment is crucial for decision making in oropharyngeal cancer patients. In last years, several articles have been published investigating the possible role of radiomics in distinguishing HPV-positive from HPV-negative neoplasms. Aim of this review was to perform a systematic quality assessment of radiomic studies published on this topic. METHODS: Radiomics studies on HPV status prediction in oropharyngeal cancer patients were selected. The Radiomic Quality Score (RQS) was assessed by three readers to evaluate their methodological quality. In addition, possible correlations between RQS% and journal type, year of publication, impact factor, and journal rank were investigated. RESULTS: After the literature search, 19 articles were selected whose RQS median was 33% (range 0-42%). Overall, 16/19 studies included a well-documented imaging protocol, 13/19 demonstrated phenotypic differences, and all were compared with the current gold standard. No study included a public protocol, phantom study, or imaging at multiple time points. More than half (13/19) included feature selection and only 2 were comprehensive of non-radiomic features. Mean RQS was significantly higher in clinical journals. CONCLUSION: Radiomics has been proposed for oropharyngeal cancer HPV status assessment, with promising results. However, these are supported by low methodological quality investigations. Further studies with higher methodological quality, appropriate standardization, and greater attention to validation are necessary prior to clinical adoption.

Functional and clinical outcomes after superior eyelid transorbital endoscopic approach for spheno-orbital meningiomas: illustrative case and literature review.

The pattern of growth of spheno-orbital meningiomas accounts for the main presenting symptoms, such as proptosis, eye motility deficit, visual impairment, diplopia. As these are benign tumors, the postoperative patient's quality of life is an important factor to consider during the preoperative planning. A detailed literature review of superior eyelid transorbital endoscopic approach for spheno-orbital meningiomas, including our own case, was made. A Medline search up to March 2022 in PubMed online electronic database was made using the following key phrases: "superior eyelid endoscopic transorbital approach spheno-orbital meningiomas," "superior eyelid endoscopic transorbital approach," "spheno-orbital meningiomas endoscopic approach." The inclusion criteria were surgical series, reviews, and case reports in English language, as well as papers written in other languages, but including the abstract in English. Cadaveric studies, multiportal combined approaches for SOM, were excluded. The literature review has disclosed five studies for a total of 65 patients, whose demographic, clinical, pathological, surgical, complications, and outcome data were analyzed. Functional and esthetic outcome data after superior eyelid transorbital approach are the following: improvement of proptosis (100%), of visual deficits (66.66%) and of ocular paresis (75%), with only 11 complications (4 trigeminal dysesthesia, 2 CSF leak, 2 wound complications, 1 upper eyelid necrosis, 1 hemorrhage of surgical field, 1 keratitis) reported, but at the expense of extent of resection (gross total resection 33.39%). Based on the outcome data, the superior eyelid transorbital endoscopic approach results in a suitable operative technique for selected spheno-orbital meningiomas.

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Neurofibromatosis 1 (NF1) is a disorder characterized by variable expressivity caused by loss-of-function variants in NF1, encoding neurofibromin, a protein negatively controlling RAS signaling. We evaluated whether concurrent variation in proteins functionally linked to neurofibromin contribute to the variable expressivity of NF1. Parallel sequencing of a RASopathy gene panel in 138 individuals with molecularly confirmed clinical diagnosis of NF1 identified missense variants in PTPN11, encoding SHP2, a positive regulator of RAS signaling, in four subjects from three unrelated families. Three subjects were heterozygous for a gain-of-function variant and showed a severe expression of NF1 (developmental delay, multiple cerebral neoplasms and peculiar cortical MRI findings), and features resembling Noonan syndrome (a RASopathy caused by activating variants in PTPN11). Conversely, the fourth subject, who showed an attenuated presentation, carried a previously unreported PTPN11 variant that had a hypomorphic behavior in vitro. Our findings document that functionally relevant PTPN11 variants occur in a small but significant proportion of subjects with NF1 modulating disease presentation, suggesting a model in which the clinical expression of pathogenic NF1 variants is modified by concomitant dysregulation of protein(s) functionally linked to neurofibromin. We also suggest targeting of SHP2 function as an approach to treat evolutive complications of NF1.

Meningioma MRI radiomics and machine learning: systematic review, quality score assessment, and meta-analysis.

PURPOSE: To systematically review and evaluate the methodological quality of studies using radiomics for diagnostic and predictive purposes in patients with intracranial meningioma. To perform a meta-analysis of machine learning studies for the prediction of intracranial meningioma grading from pre-operative brain MRI. METHODS: Articles published from the year 2000 on radiomics and machine learning applications in brain imaging of meningioma patients were included. Their methodological quality was assessed by three readers with the radiomics quality score, using the intra-class correlation coefficient (ICC) to evaluate inter-reader reproducibility. A meta-analysis of machine learning studies for the preoperative evaluation of meningioma grading was performed and their risk of bias was assessed with the Quality Assessment of Diagnostic Accuracy Studies tool. RESULTS: In all, 23 studies were included in the systematic review, 8 of which were suitable for the meta-analysis. Total (possible range, -8 to 36) and percentage radiomics quality scores were respectively 6.96 ± 4.86 and 19 ± 13% with a moderate to good inter-reader reproducibility (ICC = 0.75, 95% confidence intervals, 95%CI = 0.54-0.88). The meta-analysis showed an overall AUC of 0.88 (95%CI = 0.84-0.93) with a standard error of 0.02. CONCLUSIONS: Machine learning and radiomics have been proposed for multiple applications in the imaging of meningiomas, with promising results for preoperative lesion grading. However, future studies with adequate standardization and higher methodological quality are required prior to their introduction in clinical practice.

Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding.

Tuberous sclerosis complex (TSC) is an autosomal dominant condition clinically presenting with heterogenous clinical features. Multiple neuroradiological manifestations have been associated with TSC, such as tubers, radial migration lines, subependymal nodules, subependymal giant cell astrocytomas, and cyst-like lesions of the white matter (CLLWMs). The latter have been described as non-enhancing well-defined cysts whose pathogenesis is still unknown. We describe 2 TSC patients with CLLWM showing contrast enhancement after Gadolinium injection, a previously unreported entity.

Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.

PURPOSE: Cerebellar ataxias are a large and heterogeneous group of disorders. The evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of these conditions, being mandatory to exclude the presence of other underlying causes in determining the clinical phenotype. Once these possible causes are ruled out, the diagnosis is usually researched in the wide range of hereditary or sporadic ataxias. METHODS: We here propose a review of the main clinical and conventional imaging findings of the most common hereditary degenerative ataxias, to help neuroradiologists in the evaluation of these patients. RESULTS: Hereditary degenerative ataxias are all usually characterized from a neuroimaging standpoint by the presence, in almost all cases, of cerebellar atrophy. Nevertheless, a proper assessment of imaging data, extending beyond the mere evaluation of cerebellar atrophy, evaluating also the pattern of volume loss as well as concomitant MRI signs, is crucial to achieve a proper diagnosis. CONCLUSION: The integration of typical neuroradiological characteristics, along with patient's clinical history and laboratory data, could allow the neuroradiologist to identify some conditions and exclude others, addressing the neurologist to the more appropriate genetic testing.

Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome.

PURPOSE: Moyamoya syndrome (MMS) is a rare intracranial arterial vasculopathy which can occur in neurofibromatosis type 1 (NF1) disease, representing a cause of cerebrovascular reserve (CVR) impairment, possibly leading to ischemic stroke. Here, we evaluated noninvasive imaging techniques used to assess CVR in MMS patients, describing clinical and imaging findings in patients affected by MMS-NF1. METHODS: Following strict inclusion and exclusion criteria, in this retrospective observational study, we evaluated imaging data of nine consecutive MMS-NF1 patients (M/F = 5/4, mean age: 12.6 ± 4.0). Subjects underwent a multimodal evaluation of cerebral vascular status, including intracranial arterial MR Angiography (MRA), MRI perfusion with dynamic susceptibility contrast (DSC) technique, and 99mTc-hexamethylpropyleneamine oxime (HMPAO) SPECT. RESULTS: In 8 out 9 patients (88.8%, 6/8 symptomatic), time-to-peak maps were correlated with the involved cerebral hemisphere, while in 6 out 9 patients (66.6%, 5/6 symptomatic), mean transit time (MTT) maps showed correspondence with the affected cerebrovascular territories. Cerebral blood flow (CBF) calculated using DSC perfusion failed to detect the hypoperfused regions instead identified by SPECT-CBF in all patients, while MTT maps overlapped with SPECT-CBF data in all cases and time-to-peak maps in 60.0%. CONCLUSIONS: Although SPECT imaging still represents the gold standard for CBF assessment, our results suggest that data obtained using DSC perfusion technique, and in particular MTT maps, might be a very useful and noninvasive tool for evaluating hemodynamic status in MMS-NF1 patients.

Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.

Noonan syndrome (NS) is an autosomal dominant disease caused by aberrant up-regulated signaling through RAS GTPase. It is characterized by facial dysmorphisms, short stature, congenital heart defects, malformations of rib cage bones, bleeding problems, learning difficulties, or mild intellectual disability. Additional intracranial findings in NS patients include tumors, midline anomalies, and malformations of cortical development. In this report, we present the case of a young female patient, with a known diagnosis of Noonan syndrome that in complete well being developed two brain lesions, in the right nucleus pallidus and in the left cerebellar hemisphere respectively, whose location and signal on MRI looked similar to neurofibromatosis type 1 unidentified bright objects (UBOs), and whose spectroscopic characteristics excluded neoplasms.

Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding.

Neurofibromatosis type 1 (NF1) is a genetic autosomal dominant disease caused by mutation of the protein neurofibromin, a regulator of cell growth. The most frequent intracranial findings are unidentified bright objects (UBOs), thickening of the corpus callosum, sphenoid wing dysplasia, cerebral vasculopathy, optic and non-optic pilocytic astrocytomas, and plexiform neurofibromas. We report two cases of NF1 patients with asymptomatic olfactory bulbs (OBs) enlargement depicted with Magnetic Resonance Imaging (MRI). To the best of our knowledge, this finding has not been reported in the scientific literature so far. We hypothesize that olfactory bulbs enlargement may have a pathogenetic nature like that of the UBOs as in one of our patients there was spontaneous regression during follow-up. The olfactory bulbs enlargement expands the broad neuroradiological spectrum of finding of NF1. More reports are required to better understand incidence, pathogenesis, and clinical behavior of olfactory bulbs enlargement in NF1 patients.

Machine learning for the identification of clinically significant prostate cancer on MRI: a meta-analysis.

OBJECTIVES: The aim of this study was to systematically review the literature and perform a meta-analysis of machine learning (ML) diagnostic accuracy studies focused on clinically significant prostate cancer (csPCa) identification on MRI. METHODS: Multiple medical databases were systematically searched for studies on ML applications in csPCa identification up to July 31, 2019. Two reviewers screened all papers independently for eligibility. The area under the receiver operating characteristic curves (AUC) was pooled to quantify predictive accuracy. A random-effects model estimated overall effect size while statistical heterogeneity was assessed with the I2 value. A funnel plot was used to investigate publication bias. Subgroup analyses were performed based on reference standard (biopsy or radical prostatectomy) and ML type (deep and non-deep). RESULTS: After the final revision, 12 studies were included in the analysis. Statistical heterogeneity was high both in overall and in subgroup analyses. The overall pooled AUC for ML in csPCa identification was 0.86, with 0.81-0.91 95% confidence intervals (95%CI). The biopsy subgroup (n = 9) had a pooled AUC of 0.85 (95%CI = 0.79-0.91) while the radical prostatectomy one (n = 3) of 0.88 (95%CI = 0.76-0.99). Deep learning ML (n = 4) had a 0.78 AUC (95%CI = 0.69-0.86) while the remaining 8 had AUC = 0.90 (95%CI = 0.85-0.94). CONCLUSIONS: ML pipelines using prostate MRI to identify csPCa showed good accuracy and should be further investigated, possibly with better standardisation in design and reporting of results. KEY POINTS: • Overall pooled AUC was 0.86 with 0.81-0.91 95% confidence intervals. • In the reference standard subgroup analysis, algorithm accuracy was similar with pooled AUCs of 0.85 (0.79-0.91 95% confidence intervals) and 0.88 (0.76-0.99 95% confidence intervals) for studies employing biopsies and radical prostatectomy, respectively. • Deep learning pipelines performed worse (AUC = 0.78, 0.69-0.86 95% confidence intervals) than other approaches (AUC = 0.90, 0.85-0.94 95% confidence intervals).