Publications by authors named "Stavros M Stivaros"

Article Synopsis
  • New diagnostic criteria for NF2-related schwannomatosis were established in 2022, leading to an updated prevalence study in the UK, which focused on the rate of de novo NF2 cases.
  • A total of 1,084 living NF2 patients were identified, indicating a prevalence of 1 in 61,332, with a striking 72% of cases being de novo, many of which were mosaic.
  • The findings also revealed that nonsense variants were most common (24.8%), while missense variants had a higher familial association (56%), emphasizing the importance of patient databases for accurate genetic counseling.
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Background: Many studies on pediatric inflammatory multisystem syndrome temporally associated with severe acute respiratory syndrome coronavirus 2 (PIMS-TS) have described abdominal findings as part of multisystem involvement, with limited descriptions of abdominal imaging findings specific to PIMS-TS.

Objective: To perform a detailed evaluation of abdominal imaging findings in children with PIMS-TS.

Materials And Methods: We performed a single-center retrospective study of children admitted to our institution between April 2020 and January 2021 who fulfilled Royal College of Paediatrics and Child Health criteria for PIMS-TS and who had cross-sectional abdominal imaging.

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Imaging plays a fundamental role in the managing childhood neurologic, neurosurgical and neuro-oncological disease. Employing multi-parametric MRI techniques, such as spectroscopy and diffusion- and perfusion-weighted imaging, to the radiophenotyping of neuroradiologic conditions is becoming increasingly prevalent, particularly with radiogenomic analyses correlating imaging characteristics with molecular biomarkers of disease. However, integration into routine clinical practice remains elusive.

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Objectives: There is an unmet need to match the anticipated natural history of hearing loss (HL) in enlarged vestibular aqueduct (EVA) with clinical management strategies. The objectives of this study are therefore to provide a detailed case characterization of an EVA cohort and explore the relationship between candidate prognostic factors and timing of cochlear implant (CI) surgery.

Study Design: A multicenter retrospective review of patients diagnosed with EVA.

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Background: The CNS manifestations of COVID-19 in children have primarily been described in case reports, which limit the ability to appreciate the full spectrum of the disease in paediatric patients. We aimed to identify enough cases that could be evaluated in aggregate to better understand the neuroimaging manifestations of COVID-19 in the paediatric population.

Methods: An international call for cases of children with encephalopathy related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and abnormal neuroimaging findings was made.

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Clear cell meningioma (CCM) is a rare variant of meningioma. In recent years, an association between cranial and spinal CCMs and germline loss of function mutations in the SMARCE1 gene (SWI/SNF chromatin remodeling complex subunit gene) has been discovered. We report a family with an incidental large spinal clear cell meningioma in a young adult following reflex screening for a germline loss of function pathogenic variant (PV) in the SMARCE1 gene.

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Aim: This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population.

Methods: Ethical approval was obtained and NF1 affected Individuals aged 2-18 years from the Manchester's NF1 clinic invited along with any unaffected siblings. The PedsQL Multidimensional Fatigue Scale Parental and child report was used.

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Purpose: To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).

Methods: Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where available tumor DNA. The proportion of individuals with a proven or presumed mosaic NF2 variant was assessed and allele frequencies of identified variants evaluated using next-generation sequencing.

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Background: Birth-related acute profound hypoxic-ischaemic brain injury has specific patterns of damage including the paracentral lobules.

Objective: To test the hypothesis that there is anatomically coherent regional volume loss of the corpus callosum as a result of this hemispheric abnormality.

Materials And Methods: Study subjects included 13 children with proven acute profound hypoxic-ischaemic brain injury and 13 children with developmental delay but no brain abnormalities.

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Objective: Fanconi anaemia (FA) is an inherited disease associated with congenital and developmental abnormalities resulting from the disruption of a multigenic DNA damage response pathway. This study aimed to define the MRI appearances of the brain in patients with FA in correlation with their genetic and clinical features.

Methods: A review of the brain MRI in 20 patients with FA was performed.

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Article Synopsis
  • - The KCC2 protein, linked to the SLC12A5 gene, is essential for regulating chloride ions in the brain, which helps control fast synaptic inhibition.
  • - Researchers discovered mutations in the SLC12A5 gene that cause a severe form of epilepsy known as epilepsy of infancy with migrating focal seizures (EIMFS).
  • - Problems with KCC2, such as reduced surface expression and impaired function, lead to disrupted synaptic inhibition and increased neuron activity, contributing to this early-onset epilepsy.
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Background: Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours originate at a single point along the superior division of the eighth nerve.

Methods: High resolution MRI was performed in children genetically proven to have NF2.

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The use of biomarkers of microvascular structure and function from perfusion and permeability imaging is now well established in neuro-oncological research. There remain significant challenges to be overcome before these techniques and related biomarkers can find general clinical acceptance. Core to this is the standardization of acquisition and processing protocols for robust use across multiple clinical sites.

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Purpose: To determine whether phase-contrast magnetic resonance (MR) imaging measurements of preoperative cerebral blood and cerebrospinal fluid (CSF) hydrodynamics can be used as a biomarker of response to endoscopic third ventriculostomy (ETV).

Materials And Methods: Approval from the local research ethics committee and written informed consent were obtained for this prospective study. Thirteen patients (six female patients, seven male patients; median age, 43 years) with chronic obstructive hydrocephalus, 12 of whom went on to undergo ETV, were imaged with phase-contrast MR imaging at 1.

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The aim of this study was to assess whether the addition of a black blood (BB) sequence to standard three-dimensional time-of-flight (3D-TOF) imaging yields improved quantitative assessment of intracranial aneurysms. Thirty seven patients with 42 proven intracranial aneurysms underwent intra-arterial digital subtraction angiography, 3D-TOF and BB MRI imaging. This multimodality imaging was used to create a composite reference aneurysm description.

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Purpose: To prospectively use dynamic contrast material-enhanced magnetic resonance (MR) imaging and a tracer kinetic model to compare parotid gland microvascular characteristics in patients who have Sjögren syndrome (SS) with those in healthy volunteers.

Materials And Methods: The local research ethics committee approved the study, and written informed consent was obtained from all participants. Twenty-one patients (19 women, two men; age range, 31-73 years) with a diagnosis of SS and 11 healthy volunteers (10 women, one man; age range, 41-68 years) underwent three-dimensional T1-weighted dynamic contrast-enhanced MR imaging of the parotid gland at 1.

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Phase-contrast magnetic resonance imaging (PC-MRI) or flow-sensitive MRI can be used to noninvasively measure intracranial vascular and CSF flow. Monro-Kellie homeostasis is the complex compensatory mechanism for the increase in intracranial blood volume during systole. Through PC-MRI techniques, our understanding of Monro-Kellie homeostasis and the associated intracranial hydrodynamics has greatly improved.

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An 18-year-old male with no previous medical history presented to hospital with sudden onset of acute epigastric pain radiating to the anterior chest wall and both shoulders. There was no history of recent trauma and he had not been vomiting.

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Endoleaks are now well-recognized complications of endovascular repair of abdominal aortic aneurysm and an incidence of up to 46% has been reported in the literature. These endoleaks can result in rupture of the aneurysmal sac with potentially serious consequences. A type 2 endoleak is the most common type with a feeding vessel reperfusing the aneurysm sac.

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