Stavros Stivaros
A5017483202- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Vascular Malformations Diagnosis and Treatment
- Radiomics and Machine Learning in Medical Imaging
- Fetal and Pediatric Neurological Disorders
- MRI in cancer diagnosis
- Advanced MRI Techniques and Applications
- Hearing, Cochlea, Tinnitus, Genetics
- RNA regulation and disease
- Cerebrospinal fluid and hydrocephalus
- Pituitary Gland Disorders and Treatments
- Bone Tumor Diagnosis and Treatments
- Transcranial Magnetic Stimulation Studies
- Advanced Neuroimaging Techniques and Applications
- Histiocytic Disorders and Treatments
- Vestibular and auditory disorders
- Hearing Loss and Rehabilitation
- Ear Surgery and Otitis Media
- Genetic and rare skin diseases.
- Cerebrovascular and genetic disorders
- Medical Imaging and Pathology Studies
- Cognitive Functions and Memory
- Cerebrovascular and Carotid Artery Diseases
Manchester University NHS Foundation Trust
2019-2025
Royal Manchester Children's Hospital
2015-2025
University of Manchester
2015-2025
Manchester Academic Health Science Centre
2016-2025
Brain Tumour Research
2014-2025
Northern Health and Social Care Trust
2022-2025
St Mary's Hospital
2020
Salford Royal Hospital
2020
Countess of Chester Hospital NHS Foundation Trust
2017
Salford Royal NHS Foundation Trust
2009-2017
PurposeBy incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) establish Legius syndrome (LGSS).MethodsWe used a multistep process, beginning with Delphi method involving global experts subsequently non-NF experts, patients, foundations/patient advocacy groups.ResultsWe reached consensus on minimal clinical genetic diagnosing differentiating NF1 LGSS, which have phenotypic overlap...
Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 SWN by incorporating recent advances in genetics, ophthalmology, neuropathology, neuroimaging.We used a multistep process, beginning Delphi method involving global disease experts subsequently non-neurofibromatosis clinical experts, patients, foundations/patient advocacy groups.We reached consensus on...
The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition maintaining hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have described. Here we show recessive loss-of-function SLC12A5 mutations patients with severe infantile-onset pharmacoresistant syndrome, of infancy migrating focal seizures (EIMFS). Decreased surface...
To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2).Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for variants lymphocyte DNA and where available tumor DNA. The proportion individuals proven or presumed mosaic variant was assessed allele frequencies identified evaluated using next-generation sequencing.The rate proven/presumed 232/1055 (22.0%). However, nonmosaic heterozygous pathogenic...
Aim In this observational study, we adopted a systematic approach to the radiological phenotyping of disorders associated with intracranial calcification, aim determining if characteristic patterns could be defined as an aid future diagnosis known conditions and identification new disorders. Method A cranial imaging‐based scoring system was devised using both computed tomography magnetic resonance imaging data. Patients were grouped into diagnostic categories where definitive molecular...
Neurofibromatosis 1 (NF1) is a monogenic model for syndromic autism. Statins rescue the social and cognitive phenotype in animal knockout models, but translational trials with subjects > 8 years using cognition/behaviour outcomes have shown mixed results. This trial breaks new ground by studying statin effects first time younger children NF1 co-morbid autism multiparametric imaging outcomes. A single-site triple-blind RCT of simvastatin vs. placebo was done. Assessment (baseline 12-week...
Abstract Background Radiation treatment of benign tumors in tumor predisposition syndromes is controversial, but short-term studies from centers suggest safety despite apparent radiation-associated malignancy being reported. We determined whether radiation NF2-related schwannomatosis patients associated with increased rates subsequent (M)/malignant progression (MP). Methods All UK NF2 were eligible if they had a clinical/molecular diagnosis. Cases treated for tumors. Controls matched...
Objectives New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated accordance with these, an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted genetic counselling). The distribution variant types among and familial cases also assessed. Methods National database identifies patients meeting from a highly ascertained population cared by England’s specialised service. Diagnostic assessed 1 February 2023....
A Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. The GG undertook thorough literature review wrote recommendations for treatment surveillance. modified Delphi process used gain approval which were further altered maximal consensus. Schwannomatosis is a tumour predisposition syndrome leading development of benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect vestibulocochlear...
Background: Neurofibromatosis-1 (NF1) is an autosomal dominant neurodevelopmental condition commonly characterised by learning difficulties, with co-occurring autism spectrum conditions in 30% and attention deficit hyperactivity disorder about 50% of affected school-age children. The structural brain phenotype characteristically shows T2-white matter hyperintensities, particularly the thalamus basal ganglia, previous diffusion MRI studies have demonstrated widespread white microstructural...
<h3>Background</h3> Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with phenotype which includes bilateral vestibular (eighth cranial nerve) schwannomas. Conventional thinking suggests that these tumours originate at single point along the superior division of eighth nerve. <h3>Methods</h3> High resolution MRI was performed in children genetically proven to have NF2. The nerve (SVN) and inferior (IVN) were visualised their course points origin calculated as...
<b>Objective</b> With the identification of mutations in conserved telomere maintenance component 1 (<i>CTC1</i>) gene as cause Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct genetic entity. <b>Patients Methods</b> A total 15 patients LCC were identified from our database intracranial calcification. The clinical radiological features are described. <b>Results</b> median age (range) at presentation was 10 months...
Aim This study describes the prevalence and severity of perceived fatigue in a young neurofibromatosis type 1 (NF1) population. Methods Ethical approval was obtained NF1 affected Individuals aged 2–18 years from Manchester's clinic invited along with any unaffected siblings. The PedsQL Multidimensional Fatigue Scale Parental child report used. validated measure explores cognitive, physical sleep/rest domains on 0–100 scale. Higher scores indicate less fatigue. children were compared to...
Craniopharyngiomas are one of the most frequently diagnosed hypothalamo-pituitary tumors in childhood. The adamantinomatous histological subtype accounts for pediatric cases, while papillary variant is almost exclusively adults. Here, we report a case craniopharyngioma very young child, confirmed by molecular tissue analysis. A 4-year-old girl was being investigated symptomatic central hypothyroidism. Brain MR imaging revealed large solid/cystic suprasellar mass, splaying optic chiasm and...
Abstract Background Limited data exist on the disease course of neurofibromatosis type 2 (NF2) to guide clinical trial design. Methods A prospective database patients meeting NF2 diagnostic criteria, reviewed between 1990 and 2020, was evaluated. Follow-up first vestibular schwannoma (VS) intervention death assessed by univariate analysis stratified age at onset, era referred, inheritance type. Interventions for NF2-related tumors were assessed. Cox regression performed determine...