Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.

OBJECTIVE: Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with ACOX1 deficiency, including the younger sibling's response to allogeneic unrelated donor hematopoietic stem cell transplantation (HSCT). METHODS: We conducted retrospective chart review to obtain clinical history, neuro-imaging, and neuropathology data. ACOX1 genotyping were performed to confirm the disease. In vitro fibroblast and neural stem cell fatty acid oxidation assays were also performed. RESULTS: Both patients experienced a fatal neurodegenerative course, with late-stage cerebellar and cerebral gray matter atrophy. Serial brain magnetic resonance imaging in the younger sibling indicated demyelination began in the medulla and progressed rostrally to include the white matter of the cerebellum, pons, midbrain, and eventually subcortical white matter. The successfully engrafted younger sibling had less brain inflammation, cortical atrophy, and neuronal loss on neuro-imaging and neuropathology compared to the untreated older sister. Fibroblasts and stem cells demonstrated deficient very long chain fatty acid oxidation. INTERPRETATION: Although HSCT did not halt the course of ACOX1 deficiency, it reduced the extent of white matter inflammation in the brain. Demyelination continued because of ongoing neuronal loss, which may be due to inability of transplant to prevent progression of gray matter disease, adverse effects of chronic corticosteroid use to control graft-versus-host disease, or intervention occurring beyond a critical point for therapeutic efficacy.

A Feature-based Affine Registration Method for Capturing Background Lung Tissue Deformation for Ground Glass Nodule Tracking.

Lung nodule tracking assessment relies on cross-sectional measurements of the largest lesion profile depicted in initial and follow-up computed tomography (CT) images. However, apparent changes in nodule size assessed via simple image-based measurements may also be compromised by the effect of the background lung tissue deformation on the GGN between the initial and follow-up images, leading to erroneous conclusions about nodule changes due to disease. To compensate for the lung deformation and enable consistent nodule tracking, here we propose a feature-based affine registration method and study its performance vis-a-vis several other registration methods. We implement and test each registration method using both a lung- and a lesion-centered region of interest on ten patient CT datasets featuring twelve nodules, including both benign and malignant GGO lesions containing pure GGNs, part-solid, or solid nodules. We evaluate each registration method according to the target registration error (TRE) computed across 30 - 50 homologous fiducial landmarks surrounding the lesions and selected by expert radiologists in both the initial and follow-up patient CT images. Our results show that the proposed feature-based affine lesion-centered registration yielded a 1.1 ± 1.2 mm TRE, while a Symmetric Normalization deformable registration yielded a 1.2 ± 1.2 mm TRE, and a least-square fit registration of the 30-50 validation fiducial landmark set yielded a 1.5 ± 1.2 mm TRE. Although the deformable registration yielded a slightly higher registration accuracy than the feature-based affine registration, it is significantly more computationally efficient, eliminates the need for ambiguous segmentation of GGNs featuring ill-defined borders, and reduces the susceptibility of artificial deformations introduced by the deformable registration, which may lead to increased similarity between the registered initial and follow-up images, over-compensating for the background lung tissue deformation, and, in turn, compromising the true disease-induced nodule change assessment. We also assessed the registration qualitatively, by visual inspection of the subtraction images, and conducted a pilot pre-clinical study that showed the proposed feature-based lesion-centered affine registration effectively compensates for the background lung tissue deformation between the initial and follow-up images and also serves as a reliable baseline registration method prior to assessing lung nodule changes due to disease.

Early-stage COVID-19 pandemic observations on pulmonary embolism using nationwide multi-institutional data harvesting.

We introduce a multi-institutional data harvesting (MIDH) method for longitudinal observation of medical imaging utilization and reporting. By tracking both large-scale utilization and clinical imaging results data, the MIDH approach is targeted at measuring surrogates for important disease-related observational quantities over time. To quantitatively investigate its clinical applicability, we performed a retrospective multi-institutional study encompassing 13 healthcare systems throughout the United States before and after the 2020 COVID-19 pandemic. Using repurposed software infrastructure of a commercial AI-based image analysis service, we harvested data on medical imaging service requests and radiology reports for 40,037 computed tomography pulmonary angiograms (CTPA) to evaluate for pulmonary embolism (PE). Specifically, we compared two 70-day observational periods, namely (i) a pre-pandemic control period from 11/25/2019 through 2/2/2020, and (ii) a period during the early COVID-19 pandemic from 3/8/2020 through 5/16/2020. Natural language processing (NLP) on final radiology reports served as the ground truth for identifying positive PE cases, where we found an NLP accuracy of 98% for classifying radiology reports as positive or negative for PE based on a manual review of 2,400 radiology reports. Fewer CTPA exams were performed during the early COVID-19 pandemic than during the pre-pandemic period (9806 vs. 12,106). However, the PE positivity rate was significantly higher (11.6 vs. 9.9%, p < 10-4) with an excess of 92 PE cases during the early COVID-19 outbreak, i.e., ~1.3 daily PE cases more than statistically expected. Our results suggest that MIDH can contribute value as an exploratory tool, aiming at a better understanding of pandemic-related effects on healthcare.

Conspicuity of diffuse axonal injury lesions on diffusion-weighted MR imaging.

OBJECTIVE: (1) To detect diffuse axonal injury (DAI) lesions by diffusion-weighted imaging (DWI), as compared with fluid-attenuated inversion recovery (FLAIR) imaging and (2) to evaluate hemorrhagic DAI lesions by b0 images obtained from DWI, as compared with gradient-echo (GRE) imaging. METHODS: We reviewed MR images of 36 patients with a diagnosis of DAI. MR imaging was performed 20 h to 14 days (mean, 3.7 days) after traumatic brain injury. We evaluated: (1) conspicuity of lesions on DWI and FLAIR and (2) conspicuity of hemorrhage in DAI lesions on b0 images and GRE imaging. RESULTS: DWI clearly depicted high-signal DAI lesions. The sensitivity of DWI to lesional conspicuity in DAI lesions was almost equal to that of FLAIR. The sensitivity of b0 images to identification of hemorrhagic DAI lesions was inferior to that of GRE. CONCLUSION: DWI is as useful as FLAIR in detecting DAI lesions. GRE imaging is still the superior tool for the evaluation of hemorrhagic DAI.

Imaging findings in intracranial aspergillosis.

RATIONALE AND OBJECTIVES: The authors' purpose was to elucidate the various computed tomographic (CT) and magnetic resonance (MR) imaging findings in intracranial aspergillosis. MATERIALS AND METHODS: Retrospective analysis of cranial imaging findings was performed in eight proved cases of central nervous system aspergillosis. The patients ranged in age from 17 to 75 years. Four patients were immunocompromised, and four were immunocompetent. CT was performed in all eight patients, and MR imaging in five. RESULTS: Six patients (75%) had multiple lesions seen on the imaging studies, with a total of 27 focal brain lesions demonstrated. The lesions were most commonly seen in the cerebral hemispheres (n = 21), with lesser involvement of the basal ganglia (n = 2) and the posterior fossa (n = 4). Seven lesions were hemorrhagic on CT and/or MR images. There was a correlation between lesion size and hemorrhage, with hemorrhage more likely in larger lesions (>15 mm). At pathologic examination, foci of hemorrhage were noted within both infarcts and abscesses. Enhancement was noted in five lesions, four of which were confirmed abscesses. Contrast enhancement of the lesions was vague and week in immunocompromised patients but solid and strong in immunocompetent patients. There were 18 lesions without hemorrhage or enhancement; they were either infarcts or abscesses at pathologic examination. Some of these small nonhemorrhagic nonenhancing brain lesions in the subcortical white matter mimicked lacunar infarcts. CONCLUSION: Typical imaging findings of intracranial aspergillosis include multifocal lesions involving the cerebral hemispheres, with hemorrhage in approximately 25% of lesions. Lesional contrast enhancement tends to be stronger in immunocompetent hosts.

CNS vasculitis and vasculopathy: efficacy and usefulness of diffusion-weighted echoplanar MR imaging.

This pictorial essay illustrates the usefulness of diffusion-weighted imaging (DWI) on various vasculitis or vasculopathies, including systemic lupus erythematosus (SLE), Behçet's disease, Churg-Strauss disease, primary angitis of the central nervous system (PACNS), giant cell arteritis, infectious vasculitis, sickle cell disease, drug-induced vasculopathy and hypertensive vasculopathy. DWI proves to detect small and active ischemic changes not visible on conventional MRI, and it clearly discriminates cytotoxic from vasogenic edema in patients with cerebral vasculitis or vasculopathy. DWI seems useful in assessing the treatment and patient outcome.

Diffusion-weighted MR imaging of posterior reversible leukoencephalopathy syndrome: a pictorial essay.

Posterior reversible leukoencephalopathy syndrome is characterized by reversible white matter lesions. However, ischemic injury with irreversible damage may occur. This pictorial essay illustrates MR features associated with posterior reversible leukoencephalopathy syndrome. We will emphasize the role of diffusion-weighted imaging for the discrimination of irreversible ischemic injury from reversible vasogenic edema.

Secondary degeneration of the substantia nigra and corticospinal tract after hemorrhagic middle cerebral artery infarction: diffusion-weighted MR findings.

Middle cerebral artery (MCA) infarction involving the striatum can cause secondary degeneration of the substantia nigra and corticospinal tract. We present a patient with subacute hemorrhagic MCA infarction in whom diffusion-weighted MR images showed high signal intensity in the ipsilateral substantia nigra and corticospinal tract. A corresponding apparent diffusion coefficient map revealed a uniformly decreased signal in the same area. This represents secondary degeneration and should not be mistaken for other pathological conditions, such as a new infarction.

Morphologic changes in the upper airway of children during awakening from propofol administration.

BACKGROUND: The purpose of this study was to determine the morphologic changes that occur in the upper airway of children during awakening from propofol sedation. METHODS: Children undergoing magnetic resonance imaging of the head underwent additional scans of the upper airway during deep sedation with propofol; this was repeated on awakening. Axial views were obtained at the most posterior sites of the pharynx at the levels of the soft palate and tongue. Measurements were then obtained of the anterior-posterior (A-P) diameter, transverse diameter, and cross-sectional areas at these levels. RESULTS: Data were obtained on 16 children, aged 10 months to 7 yr. In both sedated and awakening states, most children had the smallest cross-sectional area of the pharynx at the level of the soft palate. During the sedated state, at the soft palate level, the transverse diameter was most narrow in 11 children, the A-P diameter was most narrow in 1 child, and they were equal in 2 children. During the sedated state, at the level of the tongue, the transverse diameter was most narrow in 9 children, the A-P diameter was most narrow in 5 children, and they were equal in 2 children. During awakening, at the soft palate level, the transverse diameter was most narrow in none of the children, the A-P diameter was most narrow in 13 children, and they were equal in 1 child. At the level of the tongue, the transverse diameter was most narrow in 4 children, and the A-P diameter was most narrow in 12 children. During awakening, the A-P diameter of the pharynx at the level of the soft palate decreased in 12 children, increased in 1 child, and remained the same in 1 child. (P < 0.001). The transverse diameter increased in 11 children, decreased in 1 child, and remained the same in 2 children (P = 0.001). The cross-sectional area at the level of the soft palate increased in 4 children, decreased in 8 children, and stayed the same in 2 children (P = 0.5). During awakening, the A-P diameter of the pharynx at the level of the tongue decreased in 11 children, increased in 4 children, and remained the same in 1 child. (P = 0.01). The transverse diameter increased in 11 children and decreased in 5 children (P = 0.07). The cross-sectional area at the level of the tongue increased in 7 children, decreased in 7 children, and stayed the same in 2 children (P = 0.9). CONCLUSIONS: The dimensions of the upper airways of children change shape significantly on awakening from propofol sedation. When sedated, the upper airway is oblong shaped, with the A-P diameter larger than the transverse diameter. On awakening, the shape of the upper airway in most children changed such that the transverse diameter was larger. Cross-sectional areas between sedated and awakening states were unchanged. These changes may reflect the differential effects of propofol on upper airway musculature during awakening.