Latent Transformer Models for out-of-distribution detection.

Any clinically-deployed image-processing pipeline must be robust to the full range of inputs it may be presented with. One popular approach to this challenge is to develop predictive models that can provide a measure of their uncertainty. Another approach is to use generative modelling to quantify the likelihood of inputs.

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.

Giant thoracic discs: treatment, outcome, and follow-up of 33 patients in a single centre.

Purpose: To help guide treatment strategies and create insight into functional outcomes in patients with Giant herniated thoracic discs (GHTD), which are defined as occupying more than 40% of spinal canal.

Methods: Authors did a retrospective analysis of prospective cohort of 33 cases of GHTD, using clinical letters, notes, and telephonic questionnaires to determine their pre and postoperative functional status, surgical details, and complication rates. 16 males and 17 females operated between 2006 and 2014 were included in the study.

Delayed diagnosis of Pendred syndrome.

We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan.

Globus Pallidus Internus Deep Brain Stimulation for Traumatic Hemidystonia Following Penetrating Head Injury.

Background: Deep brain stimulation (DBS) has been a major advance in the treatment of dystonias. Outcomes are, however, less predictable for secondary dystonias, predominantly due to progression of disease or specific brain lesions. There are few cases reported of globus pallidus internus (GPi)-DBS for posttraumatic dystonia.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein.

A study on clinical and radiological features and outcome in patients with posterior reversible encephalopathy syndrome (PRES).

Unlabelled: Posterior reversible encephalopathy syndrome (PRES) is characterized clinically by headaches, seizures, vomiting, nausea, visual abnormalities, and altered mental function and is often (but not invariably) accompanied by parieto-occipital imaging features. The aim of this study is to describe the clinical and radiological features and outcome following PRES in a paediatric cohort. From a retrospectively identified cohort, case records were studied to confirm a diagnosis of PRES.

Posterior fossa ependymomas: new radiological classification with surgical correlation.

Purpose: The key determinant of long-term outcome in infratentorial ependymomas remains the extent of surgical resection. We describe a new radiological classification system which is validated against surgical findings and correlated with risk of post-operative residual tumour.

Methods: Twenty-five consecutive patients (12 females, mean age 4.

The ATHEROMA (Atorvastatin Therapy: Effects on Reduction of Macrophage Activity) Study. Evaluation using ultrasmall superparamagnetic iron oxide-enhanced magnetic resonance imaging in carotid disease.

Objectives: The aim of this study was to evaluate the effects of low-dose (10 mg) and high-dose (80 mg) atorvastatin on carotid plaque inflammation as determined by ultrasmall superparamagnetic iron oxide (USPIO)-enhanced carotid magnetic resonance imaging (MRI). The hypothesis was that treatment with 80 mg atorvastatin would demonstrate quantifiable changes in USPIO-enhanced MRI-defined inflammation within the first 3 months of therapy.

Background: Preliminary studies indicate that USPIO-enhanced MRI can identify macrophage infiltration in human carotid atheroma in vivo and hence may be a surrogate marker of plaque inflammation.

Carotid-artery imaging in the diagnosis and management of patients at risk of stroke.

Carotid atherosclerotic disease is one of the major preventable causes of ischaemic strokes. In clinical practice, decision making with regard to carotid endarterectomy or stenting is still primarily based on the extent of luminal stenosis. In most centres worldwide, luminal stenosis is now mainly assessed with non-invasive techniques, such as Doppler ultrasound, magnetic resonance angiography, and CT angiography, either alone or in combination.

Imaging the cellular biology of the carotid plaque.

Carotid atherosclerotic disease is a significant preventable cause of stroke. Clinical decision-making in current practice is based primarily on detection of the severity of luminal stenosis, as determined by ultrasound or conventional angiographic imaging modalities. New insights in the biology of atherosclerosis now suggests that the morphological characteristics of the carotid plaque as well as the molecular and cellular processes occurring within it may be more important markers of plaque vulnerability and stroke risk.

Quality of CT pulmonary angiography for suspected pulmonary embolus in pregnancy.

The main objective of this study was to assess the quality of CT pulmonary angiography (CTPA) for suspected pulmonary embolus (PE) in the pregnant population. We retrospectively identified 40 consecutive pregnant patients who underwent CTPA from January 2005 to December 2006. Forty consecutive age-matched non-pregnant women were used as a control group.

Correlation of carotid atheromatous plaque inflammation using USPIO-enhanced MR imaging with degree of luminal stenosis.

Background And Purpose: Inflammation is a recognized risk factor for the vulnerable atherosclerotic plaque. The study explores the relationship between the degree of Magnetic Resonance (MR)-defined inflammation using Ultra Small Super-Paramagnetic Iron Oxide (USPIO) particles and the severity of luminal stenosis in asymptomatic carotid plaques.

Methods: Seventy-one patients with an asymptomatic carotid stenosis of > or = 40% underwent multi-sequence USPIO-enhanced MR imaging.

Comparison of the inflammatory burden of truly asymptomatic carotid atheroma with atherosclerotic plaques contralateral to symptomatic carotid stenosis: an ultra small superparamagnetic iron oxide enhanced magnetic resonance study.

Background: Inflammation is a recognised risk factor for the vulnerable atherosclerotic plaque. The aim of this study was to explore whether there is a difference in the degree of magnetic resonance (MR) defined inflammation using ultra small superparamagnetic iron oxide (USPIO) particles within carotid atheroma in completely asymptomatic individuals and the asymptomatic carotid stenosis contralateral to the symptomatic side.

Methods: 20 symptomatic patients with contralateral disease and 20 completely asymptomatic patients underwent multi-sequence MR imaging before and 36 h after USPIO infusion.

Internal carotid artery stenosis: accuracy of subjective visual impression for evaluation with digital subtraction angiography and contrast-enhanced MR angiography.

Purpose: To prospectively determine, for both digital subtraction angiography (DSA) and contrast material-enhanced magnetic resonance (MR) angiography, the accuracy of subjective visual impression (SVI) in the evaluation of internal carotid artery (ICA) stenosis, with objective caliper measurements serving as the reference standard.

Materials And Methods: Local ethics committee approval and written informed patient consent were obtained. A total of 142 symptomatic patients (41 women, 101 men; mean age, 70 years; age range, 44-89 years) suspected of having ICA stenosis on the basis of Doppler ultrasonographic findings underwent both DSA and contrast-enhanced MR angiography.

Non-invasive MR imaging of inflammation in a patient with both asymptomatic carotid atheroma and an abdominal aortic aneurysm: a case report.

Inflammation is a recognized risk factor for the vulnerable atherosclerotic plaque. USPIO-enhanced MRI imaging is a promising non-invasive method to identify high-risk atheromatous plaque inflammation in vivo in humans, in which areas of focal signal loss on MR images have been shown to correspond to the location of activated macrophages, typically at the shoulder regions of the plaque. This is the first report in humans describing simultaneous USPIO uptake within atheroma in two different arterial territories and again emphasises that atherosclerosis is a truly systemic disease.

Identifying inflamed carotid plaques using in vivo USPIO-enhanced MR imaging to label plaque macrophages.

Background: Inflammation within atherosclerotic lesions contributes to plaque instability and vulnerability to rupture. We set out to evaluate the use of a macrophage labeling agent to identify carotid plaque inflammation by in vivo magnetic resonance imaging (MRI).

Methods And Results: Thirty patients with symptomatic severe carotid stenosis scheduled for carotid endarterectomy underwent multi-sequence MRI of the carotid bifurcation before and after injection of ultrasmall superparamagnetic particles of iron oxide (USPIOs).

Cost-effectiveness of diagnostic strategies prior to carotid endarterectomy.

The main objective of this study was to assess the long-term cost-effectiveness of five alternative diagnostic strategies for identification of severe carotid stenosis in recently symptomatic patients. A decision-analytical model with Markov transition states was constructed. Data sources included a prospective study involving 167 patients who had screening Doppler ultrasound (DUS), confirmatory contrast-enhanced magnetic resonance angiography (CEMRA) and confirmatory digital subtraction angiography (DSA), individual patient data from the European Carotid Surgery Trial and other published clinical and cost data.

Imaging the vertebral artery.

Although conventional intraarterial digital subtraction angiography remains the gold standard method for imaging the vertebral artery, noninvasive modalities such as ultrasound, multislice computed tomographic angiography and magnetic resonance angiography are constantly improving and are playing an increasingly important role in diagnosing vertebral artery pathology in clinical practice. This paper reviews the current state of vertebral artery imaging from an evidence-based perspective. Normal anatomy, normal variants and a number of pathological entities such as vertebral atherosclerosis, arterial dissection, arteriovenous fistula, subclavian steal syndrome and vertebrobasilar dolichoectasia are discussed.