Publications by authors named "Cocker L"

Ecchordosis physaliphora (EP) is a benign notochordal remnant most commonly encountered in the skull base. In opposition to typical cases of its invasive counterpart, that is, chordoma, EP does not show T1-enhancement. Now, we describe three patients with EP, discovered on delayed contrast-enhanced 3D FLAIR performed for endolymphatic hydrops imaging in suspected Menière's disease.

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Article Synopsis
  • Mutations in the PRKN gene are a leading cause of early-onset Parkinson disease, with the p.R275W variant being the most common among patients.
  • Research using patient fibroblasts, isogenic neurons, and human brain samples reveals that the p.R275W mutation significantly reduces PRKN protein levels, impairing mitophagy and mitochondrial degradation.
  • Structural simulations indicate that this mutation destabilizes the PRKN protein, leading to a loss-of-function under normal biological conditions.
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Complete loss-of-function mutations in the PRKN gene are a major cause of early-onset Parkinson's disease (PD). PRKN encodes the Parkin protein, an E3 ubiquitin ligase that works in conjunction with the ubiquitin kinase PINK1 in a distinct quality control pathway to tag damaged mitochondria for autophagic clearance, i.e.

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Despite its small size the cerebellum is an anatomically complex and functionally important part of the brain. Traditionally the cerebellum is viewed as a motor control structure entirely devoted to motor control and learning, but recent functional magnetic resonance imaging (fMRI) studies demonstrated significant involvement of the cerebellum in higher order cognitive functions. The anatomical complexity of the cerebellum is reflected by the several nomenclature systems that exist for the description of cerebellar anatomy.

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Enfortumab vedotin (EV), an antibody-drug conjugate directed against Nectin-4, significantly prolonged survival compared to standard chemotherapy in patients with locally advanced or metastatic urothelial carcinoma who previously received platinum-based chemotherapy and a PD-1 or PD-L1 inhibitor. The overall response rate in the phase 3 EV301 trial leading to approval was 40.6%.

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Unlabelled: A patient, recently diagnosed with non-Hodgkin lymphoma, presented with acute tetraplegia after surgical cervical lymph node biopsy. MRI of the cervical spine demonstrated an epidural space-occupying lesion with compressive myelopathy. While epidural hematoma was the tentative diagnosis, intra-operatively non-Hodgkin lymphoma was found.

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We report a case of a 61-year-old woman who presented to the emergency department with high inflammatory parameters and acute renal failure. Marked enlarged kidneys with persistent nephrogram were found on contrast-enhanced computed tomography . Renal biopsy showed acute interstitial nephritis.

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Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B in susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings.

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Cerebral abscess formation is a serious and life-threatening clinical entity, secondary to contiguous spread, hematogenous dissemination or direct inoculation. We present the case of a 61-year-old woman with a recent diagnosis of a locally advanced squamous cell carcinoma of the esophagus who was diagnosed with a brainstem abscess. In literature we only found three cases reporting cerebral abscess formation in patients with esophageal carcinoma.

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Article Synopsis
  • - Genetic leukoencephalopathies are inherited disorders that primarily affect the brain's white matter, with most cases seen in children, but more late-onset forms are being identified in adults.
  • - Adult leukoencephalopathies can manifest as neurodegenerative diseases, causing cognitive decline and motor symptoms, and they have unique appearances on MRI scans.
  • - Diffusion-weighted imaging (DWI) has been shown to reveal specific patterns of restriction in diffusion for these adult-onset leukoencephalopathies, making it a valuable diagnostic tool in identifying these conditions.
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Pontocerebellar hypoplasia type 9 (PCH9) is a rare autosomal recessive neurodegenerative disorder with prenatal onset caused by mutations in adenosine monophosphate deaminase 2 (). PCH9 patients demonstrate severe neurodevelopmental delay with early onset and typical magnetic resonance imaging (MRI) findings consisting in: pontine hypoplasia or atrophy with dragonfly cerebellar atrophy appearance on coronal images, reduction in size of the pons and middle cerebellar peduncles, abnormal midbrain describing a figure of "8" on axial images, diffuse loss of cerebral white matter with striking periventricular leukomalacia (PVL), and absence or extreme thinning of the corpus callosum. A review of the literature on PCH9 shows that the MRI phenotype observed in the series herein presented is similar to the eleven cases of PCH9 previously reported.

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Pediatric brain tumors differ from those in adults by location, phenotype and genotype. In addition, they show dissimilar imaging characteristics before and after treatment. While adult brain tumor treatment effects are primarily assessed on MRI by measuring the contrast-enhancing components in addition to abnormalities on T2-weighted and fluid-attenuated inversion recovery images, these methods cannot be simply extrapolated to pediatric central nervous system tumors.

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Background: Evidence suggests that lacunar infarcts have different etiologies, possibly related to their anatomical location and vascular territory. We investigated the risk factor profiles of patients with new lacunar infarcts in the basal ganglia and deep white matter.

Methods: Within the Second Manifestations of ARTerial disease-Magnetic Resonance study, a prospective cohort on brain changes on MRI in patients with symptomatic atherosclerotic disease, 679 patients (57 ± 9 years) had vascular screening and MRI at baseline and after a mean follow-up of 3.

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Background: MRI is the imaging modality of choice for diagnosing brain infarction. Because of few or atypical clinical symptoms and a relatively low sensitivity of CT scans, many cerebellar infarctions may be detected only with MRI. With adequate recognition of cerebellar infarction on MRI and prompt initiation or optimisation of preventive therapeutic measures, more dramatic strokes may be avoided in selected cases.

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Stroke and related cerebrovascular diseases are a major cause of mortality and disability. Even at standard-field-strengths (1.5T), MRI is by far the most sensitive imaging technique to detect acute brain infarctions and to characterize incidental cerebrovascular lesions, such as white matter hyperintensities, lacunes and microbleeds.

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The goal of this thesis was to elucidate the details of cerebellovascular diseases with advanced magnetic resonance (MR) imaging (MRI) and to translate the findings to routine clinical MRI. The first aim was to image cerebellar arterial perfusion territories, which was achieved by applying super-selective arterial spin labelling (ASL) MRI with labelling of both vertebral arteries in addition to the carotid arteries. The second aim was to unravel the imaging patterns of cerebellar infarctions with 7T post-mortem MRI in addition to volume (3D) clinical MRI.

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Purpose: Cerebral perfusion territories are known to vary widely among individuals. This may lead to misinterpretation of the symptomatic artery in patients with ischaemic stroke to a wrong assumption of the underlying aetiology being thromboembolic or hypoperfusion. The aim of the present study was to investigate such potential misinterpretation with territorial arterial spin labelling (T-ASL) by correlating infarct location with imaging of the perfusion territory of the carotid arteries or basilar artery.

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Introduction: Cerebellar cortical infarct cavities are a newly recognised entity associated with atherothromboembolic cerebrovascular disease and worse physical functioning. We aimed to investigate the relationship of cerebellar cortical infarct cavities with symptomatic vertebrobasilar ischaemia and with vascular risk factors.

Methods: We evaluated the MR images of 46 patients with a recent vertebrobasilar TIA or stroke and a symptomatic vertebral artery stenosis ≥50 % from the Vertebral Artery Stenting Trial (VAST) for the presence of cerebellar cortical infarct cavities ≤1.

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Knowledge of the distribution of blood flowing from the heart to the brain-feeding arteries is important for the understanding and diagnosis of cerebrovascular diseases. Due to anatomical variations and anomalies within the cerebrovasculature, together with changes caused by various cerebrovascular diseases, there is high variability in the distribution of blood to the parenchyma. This article reviews the various methods that are available for determining the flow territories of the brain-feeding arteries and provides an overview of the different territorial arterial spin labeling (ASL) magnetic resonance imaging (MRI) techniques that have been introduced during the past 2 decades.

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