X-Linked Bilateral Polymicrogyria With Epilepsy and Intellectual Disability Associated With a Novel KIF4A Variant.

We studied three brothers and a maternal half-brother featuring global developmental delay, mild to moderate intellectual disability, epilepsy, microcephaly, and strabismus. All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem asymmetric dysplasia. Exome sequencing showed that all four patients had a novel variant (c.1597C>T:p.Leu533Phe) on the KIF4A gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.

Severe Relapsing Autoimmune Encephalitis with GABAA Receptor, Titin, and AchR Antibodies in a Patient with Thymoma: A Case Report.

Introduction: We report a challenging case of autoimmune encephalitis in a patient with a thymoma harboring titin and acetylcholine receptor antibodies, who experienced multiple relapses despite thymectomy and aggressive first-line immunotherapy, and for whom GABAA receptor antibodies were ultimately identified. Case Presentation: This 40-year-old man presented with headaches, weakness, diplopia, hearing loss, and seizures progressing to status epilepticus. Brain MRI showed multifocal cortical and subcortical T2/fluid attenuated inversion recovery hyperintense lesions without enhancement. Initial neural antibody testing identified only acetylcholine receptor and titin antibodies. He presented multiple severe relapses despite complete thymoma resection, intravenous methylprednisolone with immunoglobulins or plasmapheresis, and mycophenolate mofetil. Second-line immunotherapy with rituximab was successful to alleviate symptoms and normalize the EEG and MRI after identification of anti-GABAA receptor antibodies on more comprehensive neural antibody testing for autoimmune encephalitis. Conclusion: This case demonstrates the complexity and importance of identifying pathogenic antibodies and selecting 2nd line treatment accordingly in patients with autoimmune encephalitis when multiple antibodies coexist. Despite tumor resection, aggressive immunotherapy may be needed to prevent further deterioration in anti-GABAA receptor encephalitis.

Simultaneous multiple cervical vessel dissection manifested as pulsatile tinnitus.

A previously healthy 43-year-old woman with Wallenberg syndrome, stemming from a left vertebral artery dissection and resulting in a left lateral medulla oblongata infarct, was later diagnosed with simultaneous bi-carotid and right V3 dissection. Seven days post-admission, she experienced sudden right-sided pulsatile tinnitus and exhibited a right-sided carotid murmur. High-resolution vessel wall MR imaging confirmed the new dissections. While spontaneous cervical vessel dissections involving more than two arteries are rare (less than 2% of cases), the prognosis is generally favorable. This case is noteworthy for presenting pulsatile tinnitus as a rare post-stroke dissection recurrence symptom, as documented in medical literature.

Nonaneurysmal perimesencephalic subarachnoid hemorrhage on noncontrast head CT: An accuracy, inter-rater, and intra-rater reliability study.

BACKGROUND AND PURPOSE: To evaluate the reliability and accuracy of nonaneurysmal perimesencephalic subarachnoid hemorrhage (NAPSAH) on Noncontrast Head CT (NCCT) between numerous raters. MATERIALS AND METHODS: 45 NCCT of adult patients with SAH who also had a catheter angiography (CA) were independently evaluated by 48 diverse raters; 45 raters performed a second assessment one month later. For each case, raters were asked: 1) whether they judged the bleeding pattern to be perimesencephalic; 2) whether there was blood anterior to brainstem; 3) complete filling of the anterior interhemispheric fissure (AIF); 4) extension to the lateral part of the sylvian fissure (LSF); 5) frank intraventricular hemorrhage; 6) whether in the hypothetical presence of a negative CT angiogram they would still recommend CA. An automatic NAPSAH diagnosis was also generated by combining responses to questions 2-5. Reliability was estimated using Gwet's AC1 (κG), and the relationship between the NCCT diagnosis of NAPSAH and the recommendation to perform CA using Cramer's V test. Multi-rater accuracy of NCCT in predicting negative CA was explored. RESULTS: Inter-rater reliability for the presence of NAPSAH was moderate (κG = 0.58; 95%CI: 0.47, 0.69), but improved to substantial when automatically generated (κG = 0.70; 95%CI: 0.59, 0.81). The most reliable criteria were the absence of AIF filling (κG = 0.79) and extension to LSF (κG = 0.79). Mean intra-rater reliability was substantial (κG = 0.65). NAPSAH weakly correlated with CA decision (V = 0.50). Mean sensitivity and specificity were 58% (95%CI: 44%, 71%) and 83 % (95%CI: 72 %, 94%), respectively. CONCLUSION: NAPSAH remains a diagnosis of exclusion. The NCCT diagnosis was moderately reliable and its impact on clinical decisions modest.

Benchmarking the CoW with the TopCoW Challenge: Topology-Aware Anatomical Segmentation of the Circle of Willis for CTA and MRA.

The Circle of Willis (CoW) is an important network of arteries connecting major circulations of the brain. Its vascular architecture is believed to affect the risk, severity, and clinical outcome of serious neuro-vascular diseases. However, characterizing the highly variable CoW anatomy is still a manual and time-consuming expert task. The CoW is usually imaged by two angiographic imaging modalities, magnetic resonance angiography (MRA) and computed tomography angiography (CTA), but there exist limited public datasets with annotations on CoW anatomy, especially for CTA. Therefore we organized the TopCoW Challenge in 2023 with the release of an annotated CoW dataset. The TopCoW dataset was the first public dataset with voxel-level annotations for thirteen possible CoW vessel components, enabled by virtual-reality (VR) technology. It was also the first large dataset with paired MRA and CTA from the same patients. TopCoW challenge formalized the CoW characterization problem as a multiclass anatomical segmentation task with an emphasis on topological metrics. We invited submissions worldwide for the CoW segmentation task, which attracted over 140 registered participants from four continents. The top performing teams managed to segment many CoW components to Dice scores around 90%, but with lower scores for communicating arteries and rare variants. There were also topological mistakes for predictions with high Dice scores. Additional topological analysis revealed further areas for improvement in detecting certain CoW components and matching CoW variant topology accurately. TopCoW represented a first attempt at benchmarking the CoW anatomical segmentation task for MRA and CTA, both morphologically and topologically.

Incidence and predictive factors of retropharyngeal lymph node metastases in patients with oropharyngeal cancer undergoing multimodality treatment planning imaging.

BACKGROUND: We investigated the incidence and predictive factors of retropharyngeal lymph node (RPLN) metastases in patients with oropharyngeal cancer (OPC) undergoing multimodality treatment planning imaging before radiotherapy. METHODS: Consecutive patients with OPC treated with curative-intent radiotherapy from 2017 to 2019 were retrospectively analyzed. Treatment planning comprised contrast-enhanced computed tomography (CT), magnetic resonance imaging (MRI), and fluorodeoxyglucose-positron emission tomography (FDG-PET) unless contraindicated. RESULTS: Of 300 patients, 66 (22%) had radiological evidence of RPLN involvement on planning images, compared to 17 (6%) on diagnostic CT alone. On multivariate analysis, RPLN involvement was statistically (p < 0.05) associated with tonsil, soft palate, and posterior pharyngeal wall primaries, and with disease extension to the soft palate or vallecula. CONCLUSIONS: Multimodality treatment planning imaging reveals a high rate of RPLN metastases from OPC compared to diagnostic CT alone. Patients with tonsil, soft palate, or posterior pharyngeal wall primaries or disease extending to the soft palate or vallecula appear at higher risk.

Assessment of Radiology Artificial Intelligence Software: A Validation and Evaluation Framework.

Artificial intelligence (AI) software in radiology is becoming increasingly prevalent and performance is improving rapidly with new applications for given use cases being developed continuously, oftentimes with development and validation occurring in parallel. Several guidelines have provided reporting standards for publications of AI-based research in medicine and radiology. Yet, there is an unmet need for recommendations on the assessment of AI software before adoption and after commercialization. As the radiology AI ecosystem continues to grow and mature, a formalization of system assessment and evaluation is paramount to ensure patient safety, relevance and support to clinical workflows, and optimal allocation of limited AI development and validation resources before broader implementation into clinical practice. To fulfil these needs, we provide a glossary for AI software types, use cases and roles within the clinical workflow; list healthcare needs, key performance indicators and required information about software prior to assessment; and lay out examples of software performance metrics per software category. This conceptual framework is intended to streamline communication with the AI software industry and provide healthcare decision makers and radiologists with tools to assess the potential use of these software. The proposed software evaluation framework lays the foundation for a radiologist-led prospective validation network of radiology AI software. Learning Points: The rapid expansion of AI applications in radiology requires standardization of AI software specification, classification, and evaluation. The Canadian Association of Radiologists' AI Tech & Apps Working Group Proposes an AI Specification document format and supports the implementation of a clinical expert evaluation process for Radiology AI software.

Preoperative evaluation of depth of invasion in oral tongue squamous cell carcinoma: A systematic review and meta-analysis.

The inclusion of depth of invasion (DOI) in the American Joint Committee on Cancer's staging system for oral cavity squamous cell carcinoma (SCC) has major clinical impacts. Recent studies have evaluated the reliability of imaging modalities and biopsy techniques to measure DOI preoperatively. The objective of this systematic review and meta-analysis was to comprehensively include all previously described methods to measure preoperative DOI in oral tongue SCC (OTSCC) and to compare their reliability. A systematic review was conducted on PubMed, Embase and Cochrane according to the PRISMA guidelines. Studies that evaluated the reliability of DOI measured on biopsy or imaging (rDOI) by comparing it to DOI on histopathology (pDOI) were included for extraction. A meta-analysis was conducted to obtain pooled correlation coefficients for each imaging modality. The pooled correlation coefficients between rDOI and pDOI were 0.86 (CI95% = [0.82-0.88]) and 0.80 (CI95% = [0.70-0.87]) for magnetic resonance imaging (MRI) studies and computed tomography (CT) studies, respectively. For ultrasound (US), the correlation coefficient could only be measured by including studies which measured not only DOI but also tumor thickness. It was 0.89 (CI95%= [0.82-0.94]). Overall, MRI is the better studied modality. It has a good reliability to measure preoperative rDOI in OTSCC. CT is less studied but appears to be less reliable. US cannot be compared to these imaging modality as it has been used more often to measure TT than DOI.

Should Magnetic Resonance Angiography Be Used for Screening of Intracranial Aneurysm in Adults with Sickle Cell Disease?

Magnetic resonance imaging (MRI) is used in patients with sickle cell disease (SCD) to detect silent cerebral infarcts. MR angiography (MRA) can identify arterial stenoses and intracranial aneurysms (ICANs) associated with SCD. In this study, we aimed to estimate the prevalence of ICANs in asymptomatic adult patients with SCD referred from the SCD clinic for routine screening by MRI/MRA using a 3T-MRI scanner. Findings were independently reviewed by two neuroradiologists. Between 2016 and 2020, 245 asymptomatic adults with SCD were stratified according to genotype (SS/S-ß0thalassemia and SC/Sß+). ICANs were found in 27 patients (11%; 0.95 CI: 8-16%). ICANs were more frequent in SS/S-ß0thalassemia patients (20/118 or 17%; 0.95 CI: 11-25%) than in SC/ßb+ patients (7/127 or 6%; 0.95 CI: 2-11%; p = 0.007). Individuals with SCD (particularly SS/S-ß0thalassemia) have a higher prevalence of ICANs than the general population. We believe that MRA should be considered in the current American Society of Hematology guidelines, which already contain a recommendation for MRI at least once in adult SCD patients. However, the clinical significance of preventive treatment of unruptured aneurysms remains controversial.

Magnetic Resonance-Guided Radiation Therapy for Head and Neck Cancers.

Despite the significant evolution of radiation therapy (RT) techniques in recent years, many patients with head and neck cancer still experience significant toxicities during and after treatments. The increased soft tissue contrast and functional sequences of magnetic resonance imaging (MRI) are particularly attractive in head and neck cancer and have led to the increasing development of magnetic resonance-guided RT (MRgRT). This approach refers to the inclusion of the additional information acquired from a diagnostic or planning MRI in radiation treatment planning, and now extends to online high-quality daily imaging generated by the recently developed MR-Linac. MRgRT holds numerous potentials, including enhanced baseline and planning evaluations, anatomical and functional treatment adaptation, potential for hypofractionation, and multiparametric assessment of response. This article offers a structured review of the current literature on these established and upcoming roles of MRI for patients with head and neck cancer undergoing RT.

4 days in dry immersion increases arterial wall response to ultrasound wave as measured using radio-frequency signal, comparison with spaceflight data.

Recent studies have reported a significant increase in common carotid artery (CCA) intima media thickness, wall stiffness and reflectivity to ultrasound, in astronauts, after six months of spaceflight. The hypothesis was that 4 days in dry immersion (subjects under bags of water) will be sufficient to change the CCA wall reflectivity to ultrasound similar to what observed after spaceflight. Such response would be quantified using the amplitude of the ultrasound signal returned to the probe by the target concerned. [coefficient of signal return (Rs)]. The Rs for anterior and posterior CCA wall, sternocleidomastoid muscle, intima layer and CCA lumen were calculated from the ultrasound radio frequency (RF) data displayed along each echographic line. After four days of DI, Rs increased in the CCA posterior wall (+15% +/- 10 from pre DI, p < 0.05), while no significant change was observed in the other targets. The observed increase in Rs with DI was approximately half compared to what was observed after six months of space flight (+34% +/- 14). This difference may be explained by dose response (dry immersion only four days in duration). As a marker of tissue-level physical changes, Rs provide complimentary information alongside previously observed CCA wall thickness and stiffness.

Numerical modeling and observations of seismo-acoustic waves propagating as modes in a fluid-solid waveguide.

This paper discusses the nature of the low-frequency seismo-acoustic waves generated by submarine earthquakes in the ocean. In a finite-depth homogeneous ocean over a semi-infinite solid crust, the derivation of the acoustic equations shows that waves propagate as modes. The waves propagating with the speed of sound in water (T waves) are preceded by waves with frequencies below the Airy phase. Furthermore, the group speeds of these modes are sensitive to the environmental setting. As a test, we applied the spectral finite-element code SPECFEM2D in a simplified configuration with an ocean layer overlaying a solid crust, and a seismic source below a Gaussian seamount surrounded by a flat seafloor. The simulations confirm that the generated T waves and their precursors follow the theoretical dispersion curves. A more realistic environment with a seismically-layered crust and a sound-speed profile in the ocean is then used to predict the expected acoustic modes. Although noisy, recordings by ocean bottom seismometers from the southwest Indian Ocean show T waves preceded by ultra-low frequency waves, which display two modes comparable to the theoretical ones. They are in good agreement for mode 1, whereas, for mode 0, a slight offset in frequency has yet to be explained.

Non-contrast CT markers of intracerebral hematoma expansion: a reliability study.

OBJECTIVES: We evaluated whether clinicians agree in the detection of non-contrast CT markers of intracerebral hemorrhage (ICH) expansion. METHODS: From our local dataset, we randomly sampled 60 patients diagnosed with spontaneous ICH. Fifteen physicians and trainees (Stroke Neurology, Interventional and Diagnostic Neuroradiology) were trained to identify six density (Barras density, black hole, blend, hypodensity, fluid level, swirl) and three shape (Barras shape, island, satellite) expansion markers, using standardized definitions. Thirteen raters performed a second assessment. Inter- and intra-rater agreement were measured using Gwet's AC1, with a coefficient > 0.60 indicating substantial to almost perfect agreement. RESULTS: Almost perfect inter-rater agreement was observed for the swirl (0.85, 95% CI: 0.78-0.90) and fluid level (0.84, 95% CI: 0.76-0.90) markers, while the hypodensity (0.67, 95% CI: 0.56-0.76) and blend (0.62, 95% CI: 0.51-0.71) markers showed substantial agreement. Inter-rater agreement was otherwise moderate, and comparable between density and shape markers. Inter-rater agreement was lower for the three markers that require the rater to identify one specific axial slice (Barras density, Barras shape, island: 0.46, 95% CI: 0.40-0.52 versus others: 0.60, 95% CI: 0.56-0.63). Inter-observer agreement did not differ when stratified for raters' experience, hematoma location, volume, or anticoagulation status. Intra-rater agreement was substantial to almost perfect for all but the black hole marker. CONCLUSION: In a large sample of raters with different backgrounds and expertise levels, only four of nine non-contrast CT markers of ICH expansion showed substantial to almost perfect inter-rater agreement. KEY POINTS: • In a sample of 15 raters and 60 patients, only four of nine non-contrast CT markers of ICH expansion showed substantial to almost perfect inter-rater agreement (Gwet's AC1> 0.60). • Intra-rater agreement was substantial to almost perfect for eight of nine hematoma expansion markers. • Only the blend, fluid level, and swirl markers achieved substantial to almost perfect agreement across all three measures of reliability (inter-rater agreement, intra-rater agreement, agreement with the results of a reference reading).

Papilledema: A Review of the Pathophysiology, Imaging Findings, and Mimics.

Increased intracranial pressure is the most common cause of papilledema. Multiple etiologies such as cerebral edema, hydrocephalus, space occupying lesions, infection, and idiopathic intracranial hypertension among others should be considered. Imaging plays a critical role in the detection of pathologies that can cause papilledema. MRI with contrast and CE-MRV, in particular, are key for the diagnosis of idiopathic intracranial hypertension. This review will focus in common and infrequent causes of papilledema, the role of imaging in patients with papilledema as well as its potential mimickers.

Pregnancy as a Subgroup in the Pathophysiologic Classification of Spinal Aneurysms.

BACKGROUND: Aneurysms of spinal arteries not associated with any known predisposing condition are referred to as isolated spinal aneurysms (SAs). In our series, an SA was found in 2 patients during the postpartum period. The goal of this study is to determine whether an occurrence of an SA may be related to puerperium. METHODS: In a retrospective analysis of our consecutive series of 10 cases of SAs from 2008 to 2020, we identified 2 cases of SAs during puerperium. Patients' charts and imaging were reviewed, for potential predisposing factors. RESULTS: In both cases, angiography showed fusiform aneurysms of the anterior SA with concomitant bilateral vertebral artery (VA) dissections. Serum vasculitis and inflammatory panel and genetic testing for collagen disorders were negative in both cases. Review of the literature showed that pregnancy is associated with an increased risk of arterial dissections in various locations and supports the hypothesis that hemodynamic and hormonal changes may play a role in the formation of SAs. CONCLUSIONS: Pregnancy and peripartum state may be a distinct cause of the formation of SAs, possibly as a result of increased hemodynamic stress and hormonal changes that may alter the arterial wall. It would be appropriate to add pregnancy as a subgroup in the classification of SAs. In our series, both cases were associated with bilateral VA dissections; it is possible that the bilateral VA stenosis may have contributed to the formation of the SAs. It is important to recognize this possibility when considering the occlusion of a dissected VA.

Reduced Regional Cerebral Blood Flow Measured by 99mTc-Hexamethyl Propylene Amine Oxime Single-Photon Emission Computed Tomography in Microgravity Simulated by 5-Day Dry Immersion.

Microgravity induces a cephalad fluid shift that is responsible for cephalic venous stasis that may increase intracranial pressure (ICP) in astronauts. However, the effects of microgravity on regional cerebral blood flow (rCBF) are not known. We therefore investigated changes in rCBF in a 5-day dry immersion (DI) model. Moreover, we tested thigh cuffs as a countermeasure to prevent potential microgravity-induced modifications in rCBF. Around 18 healthy male participants underwent 5-day DI with or without a thigh cuffs countermeasure. They were randomly allocated to a control (n=9) or cuffs (n=9) group. rCBF was measured 4days before DI and at the end of the fifth day of DI (DI5), using single-photon emission computed tomography (SPECT) with radiopharmaceutical 99mTc-hexamethyl propylene amine oxime (99mTc-HMPAO). SPECT images were processed using statistical parametric mapping (SPM12) software. At DI5, we observed a significant decrease in rCBF in 32 cortical and subcortical regions, with greater hypoperfusion in basal ganglia (right putamen peak level: z=4.71, p uncorr<0.001), bilateral occipital regions (left superior occipital peak level: z=4.51, p uncorr<0.001), bilateral insula (right insula peak level: 4.10, p uncorr<0.001), and bilateral inferior temporal (right inferior temporal peak level: 4.07, p uncorr<0.001). No significant difference was found between the control and cuffs groups on change in rCBF after 5days of DI. After a 5-day DI, we found a decrease in rCBF in cortical and subcortical regions. However, thigh cuffs countermeasure failed to prevent hypoperfusion. To date, this is the first study measuring rCBF in DI. Further investigations are needed in order to better understand the underlying mechanisms in cerebral blood flow (CBF) changes after exposure to microgravity.

4 Day in dry immersion reproduces partially the aging effect on the arteries as observed during 6 month spaceflight or confinement.

The objectives of this study were to determine whether 4 days of dry immersion (DI) induced similar arterial aging as spaceflight and to test the impact of thigh cuffs. Eighteen subjects underwent DI; nine wore thigh cuffs. Cardiac and arterial targets were assessed by ultrasound. No significant differences were found between the groups. The left ventricle volume, stroke volume (SV), and ejection fraction decreased with DI (p < 0.001). Carotid distensibility reduced (p < 0.05), carotid to femoral arterial tree became stiffer in 33% of the subjects, and femoral artery intima media thickness increased (p < 0.05). A reduction in plasma volume is likely to have caused the observed cardiac changes, whereas the arterial wall changes are probably best explained by hypokinesia and/or environmental stress. These changes are similar but lower in amplitude than those observed in spaceflight and mimic the natural aging effect on earth. The daytime-worn thigh cuffs had no acute or chronic impact on these arterial-focused measurements.