Publications by authors named "Maeder P"

MYCN-amplified RB1 wild-type (MYCNRB1) retinoblastoma is a rare and aggressive subtype, often resistant to standard therapies. Identifying unique MRI features is crucial for diagnosing this subtype, as biopsy is not recommended. This study aimed to differentiate MYCNRB1 from the most prevalent RB1 retinoblastoma using pretreatment MRI and radiomics.

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Purpose: To evaluate the effectiveness of baseline screening and follow-up with magnetic resonance imaging (MRI) for detecting trilateral retinoblastoma (TRb) and assessing the risk of TRb development.

Design: Prospective multicenter cohort study.

Methods: A total of 607 retinoblastoma patients from 2012 through 2022 were included and followed up until September 1, 2023.

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This retrospective multicenter study examines therapy-induced orbital and ocular MRI findings in retinoblastoma patients following selective intra-arterial chemotherapy (SIAC) and quantifies the impact of SIAC on ocular and optic nerve growth. Patients were selected based on medical chart review, with inclusion criteria requiring the availability of posttreatment MR imaging encompassing T2-weighted and T1-weighted images (pre- and post-intravenous gadolinium administration). Qualitative features and quantitative measurements were independently scored by experienced radiologists, with deep learning segmentation aiding total eye volume assessment.

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Objectives: To assess the diagnostic accuracy of nerve thickening on MRI to predict early-stage postlaminar optic nerve invasion (PLONI) in retinoblastoma. Furthermore, this study aimed to incorporate measurements into a multiparametric model for radiological determination of PLONI.

Methods: In this retrospective multicenter case-control study, high-spatial-resolution 3D T2-weighted MR images were used to measure the distal optic nerve.

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Objectives: To validate associations between MRI features and gene expression profiles in retinoblastoma, thereby evaluating the repeatability of radiogenomics in retinoblastoma.

Methods: In this retrospective multicenter cohort study, retinoblastoma patients with gene expression data and MRI were included. MRI features (scored blinded for clinical data) and matched genome-wide gene expression data were used to perform radiogenomic analysis.

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Background And Purpose: Endovascular treatment of acute ischemic stroke is now performed more frequently in the late window in radiologically selected patients. However, little is known about whether the frequency and clinical impact of incomplete recanalization and postprocedural cerebrovascular complications differ between early and late windows in the real world.

Materials And Methods: We retrospectively reviewed all patients with acute ischemic stroke receiving endovascular treatment within 24 hours from 2015 to 2019 and included in the Acute STroke Registry and Analysis of Lausanne.

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Background -amplified wild-type () retinoblastoma is a rare but clinically important subtype of retinoblastoma due to its aggressive character and relative resistance to typical therapeutic approaches. Because biopsy is not indicated in retinoblastoma, specific MRI features might be valuable to identify children with this genetic subtype. Purpose To define the MRI phenotype of retinoblastoma and evaluate the ability of qualitative MRI features to help identify this specific genetic subtype.

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Background And Purpose: Procedural complications occur in 4%-29% of endovascular treatments in acute ischemic stroke. However, little is known about their predictors and clinical impact in the real world. We aimed to investigate the frequency and clinical impact of procedural complications of endovascular treatment and identify associated risk factors.

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Background: Rare mechanisms of stroke (RMS) in acute ischemic stroke (AIS) have rarely been studied applying a systematic approach. Our aim was to define the frequency, etiologies, predictors, and outcomes of RMS in a consecutive series of AIS.

Methods: Data from consecutive patients from 2003 to 2016 were derived from the Acute STroke Registry and Analysis of Lausanne (ASTRAL).

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We report the case of a 34-year-old female patient complaining of headaches 1 day after childbirth, initially interpreted as postdural puncture headache (PDPH) and treated successfully with an epidural blood patch. Five days later, she presented with an acute proportional right sensorimotor hemisyndrome and a new-onset left-sided headache, attributed to a venous stroke from left-sided cerebral sinus venous thrombosis (CSVT). Simultaneously, we found radiologic signs of reversible cerebral vasoconstriction syndrome (RCVS), considered asymptomatic.

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Background: Transient global amnesia (TGA) represents a benign neurological syndrome of unknown pathophysiology, often accompanied by vanishing hippocampal punctate diffusion-weighted imaging lesions (HPDL). The literature suggests that TGA may present with unusual features. This study analyses atypical clinical and radiological manifestations of patients with TGA and/or HPDL.

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Background: Transient global amnesia (TGA) represents a benign neurological syndrome of unknown pathophysiology, often accompanied by vanishing hippocampal punctate lesions on diffusion-weighted imaging (hippocampal punctate diffusion lesion, HPDL). The recent literature suggests that TGA may be triggered by acute neurological conditions.

Objective: To study patients with TGA triggered by an acute neurological disease.

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Purpose: To investigate the prevalence and magnetic resonance imaging (MRI) phenotype of retinoblastoma-associated orbital cellulitis. Additionally, this study aimed to identify postlaminar optic nerve enhancement (PLONE) patterns differentiating between inflammation and tumor invasion.

Design: A monocenter cohort study assessed the prevalence of orbital cellulitis features on MRI in retinoblastoma patients.

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We present a patient who developed, after an early-onset, a stable course of spastic paraplegia and ataxia for 4 decades and eventually succumbed to two episodes of postinfectious lactic acidosis. Diagnostic workup including muscle biopsy and postmortem analysis, oxymetric analysis, spectrophotometric enzyme analysis, and MitoExome sequencing revealed a necrotizing leukoencephalomyelopathy due to the so far unreported biallelic variant of the NDUFV1 gene (p.(Pro122Leu)).

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We present the comparison of two-dimensional (2D) fetal brain biometry on magnetic resonance (MR) images using orthogonal 2D T2-weighted sequences (T2WSs) vs. one 3D super-resolution (SR) reconstructed volume and evaluation of the level of confidence and concordance between an experienced pediatric radiologist (obs1) and a junior radiologist (obs2). Twenty-five normal fetal brain MRI scans (18-34 weeks of gestation) including orthogonal 3-mm-thick T2WSs were analyzed retrospectively.

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Objective: Impact of different MR perfusion software on selection and outcome of patients with acute ischemic stroke (AIS) and large vessel occlusion (LVO) treated by endovascular thrombectomy (EVT) is unclear. We aimed at comparing two commercial MRI software, semi-automated with unadjusted (method A) and adjusted mask (method B), and fully automated (method C) in this setting.

Methods: MRI from 144 consecutive AIS patients with anterior circulation LVO was retrospectively analysed.

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Secondary enucleation (SE) puts an irreversible end to eye-preserving therapies, whenever their prolongation is expected to violate the presumed state of metastatic grace. At present, it must be acknowledged that clear criteria for SE are missing, leading to empiric and subjective indications commonly related to disease progression or relapse, disease persistence masking the optic nerve head or treatment-related complications obscuring the fundus view. This absence of evidence-based consensus regarding SE is explained by the continuously moving frontiers of the conservative management as a result of diagnostic and therapeutic advances, as well as by the lack of studies sufficiently powered to accurately stratify the risk of metastasis in conservatively treated patients.

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Vestibular schwannomas (VSs) are benign, slow-growing tumors. Management options include observation, surgery, and radiation. In this retrospective trial, we aimed at evaluating whether biologically effective dose (BED) plays a role in tumor volume changes after single-fraction first intention stereotactic radiosurgery (SRS) for VS.

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Retinoblastoma mimickers, or pseudoretinoblastoma, are conditions that show similarities with the pediatric cancer retinoblastoma. However, false-positive retinoblastoma diagnosis can cause mistreatment, while false-negative diagnosis can cause life-threatening treatment delay. The purpose of this study is to identify the MR imaging features that best differentiate between retinoblastoma and the most common pseudoretinoblastoma diagnoses: Coats' disease and persistent fetal vasculature (PFV).

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Osteoblastoma of the skull is a rare entity, and they account only for 2-4% of all the cases of osteoblastoma. We perform a comprehensive review of the pertinent literature on the subject and we report a case of a 3-year-old girl presenting with a 6-month history of a supraorbital mass and exophthalmos due to an osteoblastoma of the frontal and ethmoid bones involving the orbit and anterior skull base. A 3D printed model of the patient's skull was used for the preoperative planning and reconstruction strategy.

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Purpose: We aimed at assessing the potential of automated MR morphometry to assess individual basal ganglia and thalamus volumetric changes at the chronic phase after cortical stroke.

Methods: Ninety-six patients (mean age: 65 ± 18 years, male 55) with cortical stroke at the chronic phase were retrospectively included. Patients were scanned at 1.

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Purpose: The thalamus is an important brain structure and neurosurgical target, but its constituting nuclei are challenging to image non-invasively. Recently, susceptibility-weighted imaging (SWI) at ultra-high field has shown promising capabilities for thalamic nuclei mapping. In this work, several methodological improvements were explored to enhance SWI quality and contrast, and specifically its ability for thalamic imaging.

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